Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Ryr3'

186814

Institutional Source

Beutler Lab

Gene Symbol

Ryr3

Ensembl Gene

ENSMUSG00000057378

Gene Name

ryanodine receptor 3

Synonyms

calcium release channel isoform 3

MMRRC Submission

039698-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112461700-113047441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112539618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 3207 (D3207E)

Ref Sequence

ENSEMBL: ENSMUSP00000147250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080673] [ENSMUST00000091818] [ENSMUST00000134358] [ENSMUST00000208151] [ENSMUST00000208290]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080673
AA Change: D3207E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378
AA Change: D3207E

Domain	Start	End	E-Value	Type
low complexity region	90	99	N/A	INTRINSIC
MIR	100	155	3.27e-4	SMART
MIR	162	207	7.52e-4	SMART
MIR	215	269	8.06e-4	SMART
MIR	275	368	8.4e-25	SMART
Pfam:RYDR_ITPR	438	642	1.1e-71	PFAM
SPRY	657	795	1.16e-24	SMART
Pfam:RyR	848	942	1.5e-34	PFAM
Pfam:RyR	962	1056	1.2e-32	PFAM
SPRY	1084	1207	7.99e-37	SMART
SPRY	1325	1465	6.25e-30	SMART
low complexity region	1757	1772	N/A	INTRINSIC
low complexity region	1773	1788	N/A	INTRINSIC
low complexity region	1932	1957	N/A	INTRINSIC
Pfam:RYDR_ITPR	2018	2228	1.8e-59	PFAM
Pfam:RyR	2595	2689	1.2e-36	PFAM
Pfam:RyR	2713	2801	2.1e-31	PFAM
low complexity region	2877	2887	N/A	INTRINSIC
low complexity region	3169	3184	N/A	INTRINSIC
low complexity region	3327	3338	N/A	INTRINSIC
PDB:2BCX\|B	3462	3491	9e-12	PDB
low complexity region	3532	3540	N/A	INTRINSIC
coiled coil region	3585	3614	N/A	INTRINSIC
Pfam:RIH_assoc	3715	3848	4.9e-40	PFAM
low complexity region	3855	3875	N/A	INTRINSIC
SCOP:d1sra__	3893	3989	1e-10	SMART
low complexity region	4096	4134	N/A	INTRINSIC
transmembrane domain	4178	4200	N/A	INTRINSIC
Pfam:RR_TM4-6	4227	4497	4.7e-96	PFAM
Pfam:Ion_trans	4599	4762	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091818
AA Change: D3227E

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378
AA Change: D3227E

Domain	Start	End	E-Value	Type
low complexity region	110	119	N/A	INTRINSIC
MIR	120	175	3.27e-4	SMART
MIR	182	227	7.52e-4	SMART
MIR	235	289	8.06e-4	SMART
MIR	295	388	8.4e-25	SMART
Pfam:RYDR_ITPR	460	655	1.2e-64	PFAM
SPRY	677	815	1.16e-24	SMART
Pfam:RyR	869	959	3.3e-38	PFAM
Pfam:RyR	983	1073	2.5e-32	PFAM
SPRY	1104	1227	7.99e-37	SMART
SPRY	1345	1485	6.25e-30	SMART
low complexity region	1777	1792	N/A	INTRINSIC
low complexity region	1793	1808	N/A	INTRINSIC
low complexity region	1952	1977	N/A	INTRINSIC
Pfam:RYDR_ITPR	2040	2248	5.8e-67	PFAM
Pfam:RyR	2616	2706	6.3e-33	PFAM
Pfam:RyR	2734	2818	6.6e-26	PFAM
low complexity region	2897	2907	N/A	INTRINSIC
low complexity region	3189	3204	N/A	INTRINSIC
PDB:2BCX\|B	3487	3516	1e-11	PDB
low complexity region	3557	3565	N/A	INTRINSIC
coiled coil region	3610	3639	N/A	INTRINSIC
Pfam:RIH_assoc	3744	3862	3.5e-34	PFAM
low complexity region	3880	3900	N/A	INTRINSIC
SCOP:d1sra__	3918	4014	1e-10	SMART
low complexity region	4121	4159	N/A	INTRINSIC
transmembrane domain	4203	4225	N/A	INTRINSIC
Pfam:RR_TM4-6	4252	4522	1.1e-98	PFAM
Pfam:Ion_trans	4625	4799	6.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134358
AA Change: D3207E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000208151
AA Change: D3207E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208290
AA Change: D3207E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted, knock-out(5) Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,505,475 (GRCm39)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,581,967 (GRCm39)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm39)		probably null	Het
Aff1	G	A	5: 103,988,923 (GRCm39)	G830D	probably damaging	Het
AI987944	T	C	7: 41,023,873 (GRCm39)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,184,283 (GRCm39)		probably null	Het
Arhgap40	C	G	2: 158,381,190 (GRCm39)	C349W	probably damaging	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Barhl2	A	T	5: 106,601,365 (GRCm39)	M338K	probably benign	Het
Btd	T	C	14: 31,388,747 (GRCm39)	V156A	probably damaging	Het
Catspere2	A	G	1: 177,874,552 (GRCm39)	K140E	unknown	Het
Ccdc82	T	C	9: 13,262,397 (GRCm39)	V319A	probably damaging	Het
Celsr1	G	T	15: 85,915,263 (GRCm39)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,389,968 (GRCm39)	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,086,857 (GRCm39)	T252I	probably benign	Het
Cma2	T	C	14: 56,210,573 (GRCm39)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,939,401 (GRCm39)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,639,613 (GRCm39)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,553,409 (GRCm39)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,081,323 (GRCm39)	T484I	possibly damaging	Het
Epas1	A	T	17: 87,136,455 (GRCm39)	K742N	probably damaging	Het
Evc2	A	G	5: 37,506,094 (GRCm39)	T138A	probably benign	Het
F5	T	C	1: 164,035,457 (GRCm39)	I1877T	probably damaging	Het
Fat1	T	G	8: 45,406,201 (GRCm39)	V984G	probably benign	Het
Fat4	T	A	3: 39,034,928 (GRCm39)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,436,427 (GRCm39)	R120H	probably damaging	Het
Gcnt3	T	C	9: 69,941,659 (GRCm39)	D303G	probably benign	Het
Gng11	A	T	6: 4,008,066 (GRCm39)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,455,308 (GRCm39)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,357,484 (GRCm39)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,005,708 (GRCm39)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,378,240 (GRCm39)	D187E	probably damaging	Het
Klhl8	A	G	5: 104,019,911 (GRCm39)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,747,967 (GRCm39)		probably benign	Het
Krt12	C	A	11: 99,311,650 (GRCm39)	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,754,623 (GRCm39)	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	C	G	2: 121,136,889 (GRCm39)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,532,593 (GRCm39)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,001,038 (GRCm39)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Mybph	C	T	1: 134,121,374 (GRCm39)	P45S	probably benign	Het
Myo15a	T	A	11: 60,392,527 (GRCm39)	S2157T	probably damaging	Het
Or14j2	G	T	17: 37,886,164 (GRCm39)	T50K	probably damaging	Het
Or1ab2	T	C	8: 72,863,623 (GRCm39)	V71A	probably benign	Het
Or2t35	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Or5h25	T	C	16: 58,930,967 (GRCm39)	E2G	probably benign	Het
Otogl	A	G	10: 107,634,218 (GRCm39)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,601,667 (GRCm39)	F118L	probably damaging	Het
Pak5	T	C	2: 135,958,680 (GRCm39)	D136G	probably damaging	Het
Pik3r2	T	C	8: 71,223,250 (GRCm39)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,254,052 (GRCm39)	N372S	probably benign	Het
Prss30	G	T	17: 24,191,806 (GRCm39)	N238K	possibly damaging	Het
Prss33	C	A	17: 24,053,785 (GRCm39)		probably null	Het
Ptpn4	T	C	1: 119,692,788 (GRCm39)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,558,324 (GRCm39)	V130A	probably benign	Het
Rdh7	A	T	10: 127,724,481 (GRCm39)	M1K	probably null	Het
Rtp3	A	C	9: 110,815,751 (GRCm39)	S205A	probably benign	Het
Scn9a	T	A	2: 66,313,803 (GRCm39)	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,501,551 (GRCm39)	V122A	probably benign	Het
Slc15a4	A	G	5: 127,686,043 (GRCm39)	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,725,173 (GRCm39)	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,864,442 (GRCm39)	D530G	probably benign	Het
Tcf25	T	A	8: 124,108,289 (GRCm39)	S115T	probably benign	Het
Tet2	A	G	3: 133,172,613 (GRCm39)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,211,105 (GRCm39)	R205*	probably null	Het
Ttc23	G	T	7: 67,375,069 (GRCm39)		probably null	Het
Tut7	T	C	13: 59,947,717 (GRCm39)	E466G	possibly damaging	Het
Unc13d	T	C	11: 115,959,499 (GRCm39)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,846,572 (GRCm39)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,551 (GRCm39)	C677S	probably benign	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Ythdc1	G	A	5: 86,975,981 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,343,408 (GRCm39)	R596*	probably null	Het

Other mutations in Ryr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Ryr3	APN	2	112,490,494 (GRCm39)	missense	probably damaging	0.98
IGL00531:Ryr3	APN	2	112,493,357 (GRCm39)	splice site	probably benign
IGL00785:Ryr3	APN	2	112,666,448 (GRCm39)	missense	possibly damaging	0.95
IGL00901:Ryr3	APN	2	112,716,934 (GRCm39)	missense	probably damaging	1.00
IGL00910:Ryr3	APN	2	112,559,279 (GRCm39)	splice site	probably benign
IGL00970:Ryr3	APN	2	112,595,021 (GRCm39)	missense	probably damaging	1.00
IGL01083:Ryr3	APN	2	112,582,191 (GRCm39)	splice site	probably benign
IGL01105:Ryr3	APN	2	112,582,150 (GRCm39)	missense	probably damaging	1.00
IGL01287:Ryr3	APN	2	112,539,418 (GRCm39)	missense	probably damaging	1.00
IGL01343:Ryr3	APN	2	112,490,399 (GRCm39)	missense	probably damaging	1.00
IGL01472:Ryr3	APN	2	112,502,593 (GRCm39)	missense	probably benign	0.20
IGL01552:Ryr3	APN	2	112,656,228 (GRCm39)	missense	possibly damaging	0.53
IGL01594:Ryr3	APN	2	112,603,073 (GRCm39)	missense	probably damaging	1.00
IGL01723:Ryr3	APN	2	112,480,456 (GRCm39)	critical splice donor site	probably null
IGL01837:Ryr3	APN	2	112,631,665 (GRCm39)	missense	probably damaging	1.00
IGL01868:Ryr3	APN	2	112,633,503 (GRCm39)	splice site	probably benign
IGL01907:Ryr3	APN	2	112,699,346 (GRCm39)	splice site	probably benign
IGL02005:Ryr3	APN	2	112,493,608 (GRCm39)	splice site	probably benign
IGL02014:Ryr3	APN	2	112,777,260 (GRCm39)	missense	possibly damaging	0.86
IGL02109:Ryr3	APN	2	112,779,502 (GRCm39)	missense	probably benign
IGL02178:Ryr3	APN	2	112,656,144 (GRCm39)	missense	probably benign	0.17
IGL02185:Ryr3	APN	2	112,797,548 (GRCm39)	missense	probably damaging	0.99
IGL02189:Ryr3	APN	2	112,585,183 (GRCm39)	splice site	probably benign
IGL02200:Ryr3	APN	2	112,679,855 (GRCm39)	missense	probably damaging	0.98
IGL02302:Ryr3	APN	2	112,794,701 (GRCm39)	missense	probably damaging	1.00
IGL02305:Ryr3	APN	2	112,475,622 (GRCm39)	missense	probably damaging	0.96
IGL02306:Ryr3	APN	2	112,664,459 (GRCm39)	missense	probably damaging	0.98
IGL02306:Ryr3	APN	2	112,677,744 (GRCm39)	critical splice donor site	probably null
IGL02340:Ryr3	APN	2	112,777,349 (GRCm39)	splice site	probably benign
IGL02398:Ryr3	APN	2	112,677,767 (GRCm39)	missense	probably benign	0.05
IGL02407:Ryr3	APN	2	112,585,303 (GRCm39)	missense	probably damaging	1.00
IGL02426:Ryr3	APN	2	112,731,250 (GRCm39)	missense	possibly damaging	0.59
IGL02452:Ryr3	APN	2	112,664,335 (GRCm39)	missense	probably damaging	1.00
IGL02453:Ryr3	APN	2	112,512,073 (GRCm39)	splice site	probably benign
IGL02585:Ryr3	APN	2	112,542,648 (GRCm39)	missense	probably damaging	1.00
IGL02724:Ryr3	APN	2	112,732,921 (GRCm39)	critical splice donor site	probably null
IGL02817:Ryr3	APN	2	112,674,968 (GRCm39)	critical splice donor site	probably null
IGL02861:Ryr3	APN	2	112,483,186 (GRCm39)	missense	possibly damaging	0.89
IGL03038:Ryr3	APN	2	112,498,465 (GRCm39)	missense	possibly damaging	0.83
IGL03059:Ryr3	APN	2	112,630,392 (GRCm39)	missense	probably damaging	1.00
IGL03136:Ryr3	APN	2	112,506,319 (GRCm39)	splice site	probably benign
IGL03137:Ryr3	APN	2	112,740,742 (GRCm39)	missense	probably benign
IGL03166:Ryr3	APN	2	112,471,457 (GRCm39)	nonsense	probably null
IGL03177:Ryr3	APN	2	112,859,016 (GRCm39)	missense	probably benign	0.39
IGL03205:Ryr3	APN	2	112,462,487 (GRCm39)	missense	probably damaging	1.00
IGL03224:Ryr3	APN	2	112,784,681 (GRCm39)	nonsense	probably null
IGL03249:Ryr3	APN	2	112,471,001 (GRCm39)	missense	probably benign	0.32
IGL03370:Ryr3	APN	2	112,586,944 (GRCm39)	missense	possibly damaging	0.69
intruder	UTSW	2	112,502,591 (GRCm39)	nonsense	probably null
usurper	UTSW	2	112,630,367 (GRCm39)	missense	probably damaging	1.00
ANU74:Ryr3	UTSW	2	112,661,575 (GRCm39)	critical splice acceptor site	probably null
BB006:Ryr3	UTSW	2	112,664,533 (GRCm39)	missense	probably benign	0.00
BB016:Ryr3	UTSW	2	112,664,533 (GRCm39)	missense	probably benign	0.00
F5426:Ryr3	UTSW	2	112,596,683 (GRCm39)	splice site	probably benign
PIT4494001:Ryr3	UTSW	2	112,672,221 (GRCm39)	missense	probably damaging	0.99
R0022:Ryr3	UTSW	2	112,471,011 (GRCm39)	missense	probably damaging	1.00
R0022:Ryr3	UTSW	2	112,471,011 (GRCm39)	missense	probably damaging	1.00
R0051:Ryr3	UTSW	2	112,699,420 (GRCm39)	missense	probably damaging	1.00
R0051:Ryr3	UTSW	2	112,699,420 (GRCm39)	missense	probably damaging	1.00
R0085:Ryr3	UTSW	2	112,690,108 (GRCm39)	missense	probably damaging	1.00
R0097:Ryr3	UTSW	2	112,630,400 (GRCm39)	missense	probably damaging	1.00
R0097:Ryr3	UTSW	2	112,630,400 (GRCm39)	missense	probably damaging	1.00
R0098:Ryr3	UTSW	2	112,731,376 (GRCm39)	missense	probably damaging	1.00
R0098:Ryr3	UTSW	2	112,731,376 (GRCm39)	missense	probably damaging	1.00
R0116:Ryr3	UTSW	2	112,633,510 (GRCm39)	missense	probably damaging	0.99
R0281:Ryr3	UTSW	2	112,517,155 (GRCm39)	missense	probably damaging	1.00
R0302:Ryr3	UTSW	2	112,477,468 (GRCm39)	splice site	probably benign
R0306:Ryr3	UTSW	2	112,606,000 (GRCm39)	critical splice donor site	probably null
R0445:Ryr3	UTSW	2	112,696,399 (GRCm39)	missense	probably benign	0.16
R0463:Ryr3	UTSW	2	112,492,046 (GRCm39)	missense	probably damaging	1.00
R0592:Ryr3	UTSW	2	112,508,826 (GRCm39)	missense	probably damaging	1.00
R0622:Ryr3	UTSW	2	112,492,900 (GRCm39)	missense	probably damaging	1.00
R0656:Ryr3	UTSW	2	112,478,651 (GRCm39)	splice site	probably benign
R0735:Ryr3	UTSW	2	112,563,327 (GRCm39)	missense	probably benign	0.11
R0783:Ryr3	UTSW	2	112,586,672 (GRCm39)	splice site	probably benign
R0789:Ryr3	UTSW	2	112,611,318 (GRCm39)	splice site	probably null
R0835:Ryr3	UTSW	2	112,480,483 (GRCm39)	missense	probably benign	0.16
R0879:Ryr3	UTSW	2	112,860,588 (GRCm39)	missense	probably benign	0.02
R0924:Ryr3	UTSW	2	112,672,178 (GRCm39)	missense	probably damaging	1.00
R0930:Ryr3	UTSW	2	112,672,178 (GRCm39)	missense	probably damaging	1.00
R0931:Ryr3	UTSW	2	112,484,047 (GRCm39)	missense	probably damaging	1.00
R1037:Ryr3	UTSW	2	112,699,453 (GRCm39)	missense	probably benign	0.42
R1169:Ryr3	UTSW	2	112,563,359 (GRCm39)	missense	probably benign	0.01
R1170:Ryr3	UTSW	2	112,777,332 (GRCm39)	missense	probably damaging	1.00
R1178:Ryr3	UTSW	2	112,794,725 (GRCm39)	missense	probably benign	0.00
R1187:Ryr3	UTSW	2	112,788,521 (GRCm39)	missense	probably damaging	1.00
R1289:Ryr3	UTSW	2	112,475,630 (GRCm39)	missense	probably damaging	1.00
R1337:Ryr3	UTSW	2	112,610,308 (GRCm39)	missense	possibly damaging	0.46
R1342:Ryr3	UTSW	2	112,581,148 (GRCm39)	missense	probably damaging	1.00
R1349:Ryr3	UTSW	2	112,664,546 (GRCm39)	missense	probably damaging	1.00
R1372:Ryr3	UTSW	2	112,664,546 (GRCm39)	missense	probably damaging	1.00
R1434:Ryr3	UTSW	2	112,475,604 (GRCm39)	missense	probably damaging	1.00
R1438:Ryr3	UTSW	2	112,588,046 (GRCm39)	missense	probably benign	0.18
R1467:Ryr3	UTSW	2	112,583,347 (GRCm39)	splice site	probably benign
R1470:Ryr3	UTSW	2	112,483,352 (GRCm39)	missense	probably benign
R1470:Ryr3	UTSW	2	112,483,352 (GRCm39)	missense	probably benign
R1474:Ryr3	UTSW	2	112,740,307 (GRCm39)	missense	probably damaging	1.00
R1481:Ryr3	UTSW	2	112,466,867 (GRCm39)	splice site	probably benign
R1513:Ryr3	UTSW	2	112,539,542 (GRCm39)	nonsense	probably null
R1524:Ryr3	UTSW	2	112,699,427 (GRCm39)	missense	probably damaging	0.98
R1525:Ryr3	UTSW	2	112,508,435 (GRCm39)	missense	probably damaging	1.00
R1526:Ryr3	UTSW	2	112,492,002 (GRCm39)	missense	probably damaging	1.00
R1611:Ryr3	UTSW	2	112,483,850 (GRCm39)	missense	possibly damaging	0.72
R1640:Ryr3	UTSW	2	112,731,178 (GRCm39)	missense	probably damaging	1.00
R1764:Ryr3	UTSW	2	112,690,805 (GRCm39)	missense	probably damaging	1.00
R1769:Ryr3	UTSW	2	112,582,113 (GRCm39)	critical splice donor site	probably null
R1776:Ryr3	UTSW	2	112,787,598 (GRCm39)	missense	probably damaging	0.99
R1780:Ryr3	UTSW	2	112,697,637 (GRCm39)	missense	probably damaging	0.98
R1840:Ryr3	UTSW	2	112,581,165 (GRCm39)	missense	probably damaging	1.00
R1864:Ryr3	UTSW	2	112,560,673 (GRCm39)	missense	possibly damaging	0.65
R1872:Ryr3	UTSW	2	112,539,482 (GRCm39)	missense	possibly damaging	0.94
R1960:Ryr3	UTSW	2	112,624,812 (GRCm39)	missense	probably damaging	1.00
R1994:Ryr3	UTSW	2	112,484,837 (GRCm39)	missense	probably null	0.93
R2018:Ryr3	UTSW	2	112,611,410 (GRCm39)	missense	probably benign	0.24
R2019:Ryr3	UTSW	2	112,611,410 (GRCm39)	missense	probably benign	0.24
R2029:Ryr3	UTSW	2	112,477,361 (GRCm39)	missense	possibly damaging	0.82
R2051:Ryr3	UTSW	2	112,586,986 (GRCm39)	missense	probably damaging	1.00
R2060:Ryr3	UTSW	2	112,784,709 (GRCm39)	missense	possibly damaging	0.92
R2061:Ryr3	UTSW	2	112,493,349 (GRCm39)	missense	possibly damaging	0.83
R2067:Ryr3	UTSW	2	112,777,302 (GRCm39)	missense	probably damaging	1.00
R2106:Ryr3	UTSW	2	112,468,474 (GRCm39)	missense	probably damaging	1.00
R2129:Ryr3	UTSW	2	112,508,715 (GRCm39)	splice site	probably benign
R2140:Ryr3	UTSW	2	112,705,493 (GRCm39)	missense	probably benign	0.01
R2176:Ryr3	UTSW	2	112,496,680 (GRCm39)	missense	possibly damaging	0.48
R2241:Ryr3	UTSW	2	112,631,737 (GRCm39)	missense	probably damaging	1.00
R2261:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R2262:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R2276:Ryr3	UTSW	2	112,479,664 (GRCm39)	missense	possibly damaging	0.79
R2279:Ryr3	UTSW	2	112,479,664 (GRCm39)	missense	possibly damaging	0.79
R2403:Ryr3	UTSW	2	112,516,973 (GRCm39)	missense	probably damaging	1.00
R2510:Ryr3	UTSW	2	112,506,249 (GRCm39)	missense	probably benign	0.18
R2568:Ryr3	UTSW	2	112,506,219 (GRCm39)	missense	probably damaging	1.00
R3013:Ryr3	UTSW	2	112,470,626 (GRCm39)	missense	probably damaging	1.00
R3431:Ryr3	UTSW	2	112,486,876 (GRCm39)	missense	probably damaging	1.00
R3552:Ryr3	UTSW	2	112,582,132 (GRCm39)	missense	probably damaging	1.00
R3761:Ryr3	UTSW	2	112,585,258 (GRCm39)	missense	probably benign
R3909:Ryr3	UTSW	2	112,466,953 (GRCm39)	missense	probably damaging	1.00
R3923:Ryr3	UTSW	2	112,672,218 (GRCm39)	missense	possibly damaging	0.92
R3924:Ryr3	UTSW	2	112,859,048 (GRCm39)	splice site	probably benign
R3927:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R3947:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R3949:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R3976:Ryr3	UTSW	2	112,506,182 (GRCm39)	missense	possibly damaging	0.49
R4004:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R4022:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R4084:Ryr3	UTSW	2	112,731,253 (GRCm39)	missense	probably damaging	0.99
R4106:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R4108:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R4109:Ryr3	UTSW	2	112,506,218 (GRCm39)	missense	probably damaging	0.99
R4131:Ryr3	UTSW	2	112,757,328 (GRCm39)	splice site	probably null
R4156:Ryr3	UTSW	2	112,484,020 (GRCm39)	missense	probably damaging	1.00
R4172:Ryr3	UTSW	2	112,624,815 (GRCm39)	missense	probably damaging	1.00
R4234:Ryr3	UTSW	2	112,740,752 (GRCm39)	missense	probably damaging	1.00
R4399:Ryr3	UTSW	2	112,777,189 (GRCm39)	missense	probably benign	0.01
R4409:Ryr3	UTSW	2	112,560,653 (GRCm39)	missense	probably damaging	1.00
R4418:Ryr3	UTSW	2	112,661,569 (GRCm39)	missense	probably damaging	1.00
R4466:Ryr3	UTSW	2	112,483,447 (GRCm39)	missense	possibly damaging	0.92
R4525:Ryr3	UTSW	2	112,483,966 (GRCm39)	missense	probably damaging	0.98
R4573:Ryr3	UTSW	2	112,585,519 (GRCm39)	splice site	probably null
R4589:Ryr3	UTSW	2	112,705,478 (GRCm39)	missense	probably damaging	1.00
R4653:Ryr3	UTSW	2	112,483,108 (GRCm39)	missense	probably damaging	1.00
R4664:Ryr3	UTSW	2	112,826,900 (GRCm39)	intron	probably benign
R4710:Ryr3	UTSW	2	112,596,646 (GRCm39)	missense	probably damaging	1.00
R4734:Ryr3	UTSW	2	112,740,847 (GRCm39)	missense	probably damaging	0.99
R4741:Ryr3	UTSW	2	112,633,613 (GRCm39)	missense	probably damaging	0.99
R4748:Ryr3	UTSW	2	112,794,750 (GRCm39)	missense	possibly damaging	0.95
R4749:Ryr3	UTSW	2	112,794,750 (GRCm39)	missense	possibly damaging	0.95
R4754:Ryr3	UTSW	2	112,587,984 (GRCm39)	missense	possibly damaging	0.94
R4764:Ryr3	UTSW	2	112,563,376 (GRCm39)	critical splice acceptor site	probably null
R4812:Ryr3	UTSW	2	112,742,581 (GRCm39)	missense	probably damaging	1.00
R4822:Ryr3	UTSW	2	112,483,090 (GRCm39)	missense	probably damaging	1.00
R4841:Ryr3	UTSW	2	112,478,718 (GRCm39)	missense	probably damaging	1.00
R4849:Ryr3	UTSW	2	112,738,807 (GRCm39)	missense	probably damaging	1.00
R4917:Ryr3	UTSW	2	112,661,530 (GRCm39)	missense	probably damaging	1.00
R4942:Ryr3	UTSW	2	112,666,602 (GRCm39)	missense	probably damaging	0.99
R4990:Ryr3	UTSW	2	112,740,318 (GRCm39)	missense	probably damaging	1.00
R4990:Ryr3	UTSW	2	112,466,122 (GRCm39)	missense	probably damaging	1.00
R5049:Ryr3	UTSW	2	112,470,516 (GRCm39)	missense	probably damaging	1.00
R5055:Ryr3	UTSW	2	112,661,504 (GRCm39)	missense	probably benign	0.00
R5112:Ryr3	UTSW	2	112,733,010 (GRCm39)	missense	probably damaging	1.00
R5160:Ryr3	UTSW	2	112,477,272 (GRCm39)	missense	probably damaging	1.00
R5169:Ryr3	UTSW	2	112,501,005 (GRCm39)	missense	possibly damaging	0.63
R5176:Ryr3	UTSW	2	112,588,012 (GRCm39)	missense	possibly damaging	0.95
R5182:Ryr3	UTSW	2	112,585,495 (GRCm39)	missense	probably damaging	1.00
R5206:Ryr3	UTSW	2	112,675,056 (GRCm39)	missense	probably damaging	1.00
R5263:Ryr3	UTSW	2	112,548,347 (GRCm39)	missense	possibly damaging	0.65
R5272:Ryr3	UTSW	2	112,483,558 (GRCm39)	missense	probably damaging	1.00
R5332:Ryr3	UTSW	2	112,733,038 (GRCm39)	missense	probably damaging	1.00
R5340:Ryr3	UTSW	2	112,664,470 (GRCm39)	missense	probably damaging	0.99
R5359:Ryr3	UTSW	2	112,606,186 (GRCm39)	splice site	probably null
R5434:Ryr3	UTSW	2	112,624,814 (GRCm39)	missense	probably damaging	1.00
R5454:Ryr3	UTSW	2	112,560,647 (GRCm39)	splice site	probably null
R5501:Ryr3	UTSW	2	112,492,849 (GRCm39)	missense	possibly damaging	0.80
R5560:Ryr3	UTSW	2	112,585,222 (GRCm39)	missense	probably damaging	1.00
R5580:Ryr3	UTSW	2	112,672,293 (GRCm39)	missense	probably damaging	1.00
R5621:Ryr3	UTSW	2	112,731,329 (GRCm39)	nonsense	probably null
R5731:Ryr3	UTSW	2	112,471,917 (GRCm39)	missense	probably damaging	1.00
R5757:Ryr3	UTSW	2	112,672,320 (GRCm39)	missense	probably damaging	1.00
R5758:Ryr3	UTSW	2	112,672,320 (GRCm39)	missense	probably damaging	1.00
R5768:Ryr3	UTSW	2	112,583,442 (GRCm39)	missense	probably benign	0.05
R5783:Ryr3	UTSW	2	112,483,343 (GRCm39)	missense	probably benign	0.06
R5799:Ryr3	UTSW	2	112,516,925 (GRCm39)	missense	probably damaging	1.00
R5829:Ryr3	UTSW	2	112,690,076 (GRCm39)	missense	probably damaging	1.00
R5883:Ryr3	UTSW	2	112,860,637 (GRCm39)	intron	probably benign
R5911:Ryr3	UTSW	2	112,738,832 (GRCm39)	missense	probably damaging	1.00
R5968:Ryr3	UTSW	2	112,477,394 (GRCm39)	missense	probably benign	0.22
R5972:Ryr3	UTSW	2	112,664,409 (GRCm39)	missense	probably damaging	0.99
R5978:Ryr3	UTSW	2	112,502,614 (GRCm39)	missense	probably benign	0.00
R6084:Ryr3	UTSW	2	112,738,838 (GRCm39)	missense	probably damaging	1.00
R6117:Ryr3	UTSW	2	112,465,741 (GRCm39)	missense	probably damaging	1.00
R6126:Ryr3	UTSW	2	112,588,015 (GRCm39)	missense	probably damaging	1.00
R6128:Ryr3	UTSW	2	112,784,639 (GRCm39)	critical splice donor site	probably null
R6157:Ryr3	UTSW	2	112,672,244 (GRCm39)	missense	probably damaging	0.98
R6258:Ryr3	UTSW	2	112,490,449 (GRCm39)	missense	probably damaging	1.00
R6260:Ryr3	UTSW	2	112,490,449 (GRCm39)	missense	probably damaging	1.00
R6373:Ryr3	UTSW	2	112,486,889 (GRCm39)	missense	probably damaging	1.00
R6377:Ryr3	UTSW	2	112,462,530 (GRCm39)	missense	probably damaging	1.00
R6443:Ryr3	UTSW	2	112,506,278 (GRCm39)	missense	possibly damaging	0.88
R6478:Ryr3	UTSW	2	112,490,413 (GRCm39)	missense	probably damaging	1.00
R6512:Ryr3	UTSW	2	112,697,723 (GRCm39)	missense	possibly damaging	0.83
R6684:Ryr3	UTSW	2	112,583,433 (GRCm39)	missense	probably damaging	1.00
R6753:Ryr3	UTSW	2	112,482,955 (GRCm39)	missense	probably damaging	0.99
R6812:Ryr3	UTSW	2	112,777,251 (GRCm39)	missense	probably damaging	1.00
R6910:Ryr3	UTSW	2	112,788,520 (GRCm39)	missense	probably damaging	1.00
R6930:Ryr3	UTSW	2	112,690,699 (GRCm39)	missense	probably damaging	1.00
R6946:Ryr3	UTSW	2	112,661,545 (GRCm39)	missense	probably damaging	1.00
R6950:Ryr3	UTSW	2	112,517,170 (GRCm39)	missense	possibly damaging	0.78
R6973:Ryr3	UTSW	2	112,596,656 (GRCm39)	missense	probably damaging	0.99
R6984:Ryr3	UTSW	2	112,705,436 (GRCm39)	missense	probably damaging	1.00
R7020:Ryr3	UTSW	2	112,583,423 (GRCm39)	missense	probably benign	0.00
R7037:Ryr3	UTSW	2	112,779,475 (GRCm39)	nonsense	probably null
R7166:Ryr3	UTSW	2	112,705,373 (GRCm39)	missense	probably damaging	1.00
R7172:Ryr3	UTSW	2	112,492,002 (GRCm39)	missense	probably damaging	1.00
R7177:Ryr3	UTSW	2	112,731,188 (GRCm39)	missense	probably damaging	1.00
R7188:Ryr3	UTSW	2	112,858,989 (GRCm39)	missense	probably damaging	1.00
R7202:Ryr3	UTSW	2	112,596,664 (GRCm39)	missense	probably damaging	1.00
R7228:Ryr3	UTSW	2	112,692,197 (GRCm39)	missense	probably damaging	1.00
R7256:Ryr3	UTSW	2	112,502,591 (GRCm39)	nonsense	probably null
R7293:Ryr3	UTSW	2	112,732,948 (GRCm39)	missense	probably benign	0.13
R7331:Ryr3	UTSW	2	112,594,010 (GRCm39)	missense	possibly damaging	0.80
R7380:Ryr3	UTSW	2	112,470,502 (GRCm39)	missense	probably damaging	1.00
R7391:Ryr3	UTSW	2	112,611,322 (GRCm39)	critical splice donor site	probably null
R7455:Ryr3	UTSW	2	112,559,211 (GRCm39)	missense	probably damaging	0.99
R7466:Ryr3	UTSW	2	112,757,302 (GRCm39)	missense	probably benign	0.40
R7481:Ryr3	UTSW	2	112,508,439 (GRCm39)	missense	possibly damaging	0.95
R7481:Ryr3	UTSW	2	112,508,438 (GRCm39)	missense	probably benign	0.16
R7497:Ryr3	UTSW	2	112,560,818 (GRCm39)	missense	probably benign	0.06
R7502:Ryr3	UTSW	2	112,542,706 (GRCm39)	missense	probably benign	0.00
R7505:Ryr3	UTSW	2	112,542,774 (GRCm39)	missense	probably damaging	0.99
R7581:Ryr3	UTSW	2	112,583,372 (GRCm39)	missense	probably damaging	0.99
R7606:Ryr3	UTSW	2	112,475,590 (GRCm39)	nonsense	probably null
R7677:Ryr3	UTSW	2	112,664,245 (GRCm39)	missense	probably benign
R7703:Ryr3	UTSW	2	112,690,110 (GRCm39)	missense	probably damaging	1.00
R7713:Ryr3	UTSW	2	112,465,691 (GRCm39)	missense	probably benign	0.12
R7784:Ryr3	UTSW	2	112,606,040 (GRCm39)	missense	probably damaging	1.00
R7831:Ryr3	UTSW	2	112,757,183 (GRCm39)	missense	possibly damaging	0.92
R7851:Ryr3	UTSW	2	112,508,862 (GRCm39)	missense	probably benign	0.05
R7873:Ryr3	UTSW	2	112,560,773 (GRCm39)	missense	probably benign	0.28
R7890:Ryr3	UTSW	2	112,757,257 (GRCm39)	missense	probably damaging	1.00
R7899:Ryr3	UTSW	2	112,477,295 (GRCm39)	missense	possibly damaging	0.86
R7904:Ryr3	UTSW	2	112,611,369 (GRCm39)	missense	probably damaging	1.00
R7929:Ryr3	UTSW	2	112,664,533 (GRCm39)	missense	probably benign	0.00
R7982:Ryr3	UTSW	2	112,499,594 (GRCm39)	small deletion	probably benign
R8018:Ryr3	UTSW	2	112,508,777 (GRCm39)	missense	probably damaging	1.00
R8043:Ryr3	UTSW	2	112,705,422 (GRCm39)	missense	probably damaging	1.00
R8043:Ryr3	UTSW	2	112,606,009 (GRCm39)	missense	probably damaging	1.00
R8095:Ryr3	UTSW	2	112,498,388 (GRCm39)	critical splice donor site	probably null
R8097:Ryr3	UTSW	2	112,500,615 (GRCm39)	splice site	probably null
R8181:Ryr3	UTSW	2	112,608,588 (GRCm39)	missense	probably damaging	0.98
R8276:Ryr3	UTSW	2	112,470,962 (GRCm39)	missense	probably damaging	1.00
R8329:Ryr3	UTSW	2	112,492,855 (GRCm39)	missense	possibly damaging	0.94
R8345:Ryr3	UTSW	2	112,483,270 (GRCm39)	missense	probably benign	0.01
R8361:Ryr3	UTSW	2	112,483,475 (GRCm39)	missense	probably damaging	0.98
R8421:Ryr3	UTSW	2	112,826,929 (GRCm39)	missense	probably benign	0.00
R8424:Ryr3	UTSW	2	112,672,239 (GRCm39)	missense	possibly damaging	0.91
R8471:Ryr3	UTSW	2	112,484,125 (GRCm39)	missense	probably damaging	1.00
R8505:Ryr3	UTSW	2	112,506,215 (GRCm39)	missense	probably damaging	0.98
R8535:Ryr3	UTSW	2	112,779,433 (GRCm39)	critical splice donor site	probably null
R8540:Ryr3	UTSW	2	112,630,367 (GRCm39)	missense	probably damaging	1.00
R8722:Ryr3	UTSW	2	112,603,116 (GRCm39)	missense	probably benign	0.12
R8818:Ryr3	UTSW	2	112,661,441 (GRCm39)	missense	probably damaging	1.00
R8819:Ryr3	UTSW	2	112,690,069 (GRCm39)	missense	probably benign	0.01
R8819:Ryr3	UTSW	2	112,466,137 (GRCm39)	missense	probably damaging	1.00
R8820:Ryr3	UTSW	2	112,690,069 (GRCm39)	missense	probably benign	0.01
R8820:Ryr3	UTSW	2	112,466,137 (GRCm39)	missense	probably damaging	1.00
R8852:Ryr3	UTSW	2	112,624,844 (GRCm39)	missense	probably damaging	1.00
R8859:Ryr3	UTSW	2	112,483,564 (GRCm39)	missense	probably damaging	0.98
R8896:Ryr3	UTSW	2	112,583,395 (GRCm39)	nonsense	probably null
R8916:Ryr3	UTSW	2	112,608,635 (GRCm39)	missense	probably damaging	1.00
R8935:Ryr3	UTSW	2	112,508,402 (GRCm39)	missense	probably benign	0.33
R8943:Ryr3	UTSW	2	112,465,669 (GRCm39)	missense	probably damaging	1.00
R8963:Ryr3	UTSW	2	112,667,015 (GRCm39)	critical splice donor site	probably null
R8974:Ryr3	UTSW	2	112,742,624 (GRCm39)	missense	possibly damaging	0.74
R9008:Ryr3	UTSW	2	112,465,748 (GRCm39)	missense	probably damaging	0.98
R9040:Ryr3	UTSW	2	112,784,731 (GRCm39)	missense	probably damaging	1.00
R9041:Ryr3	UTSW	2	112,787,546 (GRCm39)	missense	probably damaging	0.97
R9102:Ryr3	UTSW	2	112,508,906 (GRCm39)	splice site	probably benign
R9167:Ryr3	UTSW	2	112,664,398 (GRCm39)	missense	probably damaging	1.00
R9180:Ryr3	UTSW	2	112,491,981 (GRCm39)	missense	probably damaging	0.99
R9219:Ryr3	UTSW	2	112,742,584 (GRCm39)	missense	possibly damaging	0.62
R9258:Ryr3	UTSW	2	112,483,364 (GRCm39)	missense	probably damaging	0.99
R9300:Ryr3	UTSW	2	112,690,695 (GRCm39)	missense	probably benign
R9320:Ryr3	UTSW	2	112,610,336 (GRCm39)	missense	probably damaging	1.00
R9325:Ryr3	UTSW	2	112,479,640 (GRCm39)	missense	probably damaging	0.96
R9405:Ryr3	UTSW	2	112,664,612 (GRCm39)	missense	probably damaging	1.00
R9414:Ryr3	UTSW	2	112,501,011 (GRCm39)	missense	possibly damaging	0.81
R9489:Ryr3	UTSW	2	112,491,966 (GRCm39)	missense	probably damaging	1.00
R9522:Ryr3	UTSW	2	112,560,759 (GRCm39)	missense	probably benign	0.34
R9526:Ryr3	UTSW	2	112,664,270 (GRCm39)	missense	probably benign
R9529:Ryr3	UTSW	2	112,465,660 (GRCm39)	missense	possibly damaging	0.70
R9605:Ryr3	UTSW	2	112,491,966 (GRCm39)	missense	probably damaging	1.00
R9652:Ryr3	UTSW	2	112,635,047 (GRCm39)	missense	possibly damaging	0.66
R9660:Ryr3	UTSW	2	112,664,074 (GRCm39)	missense	probably benign
R9670:Ryr3	UTSW	2	112,560,845 (GRCm39)	missense	probably benign	0.28
R9673:Ryr3	UTSW	2	112,486,883 (GRCm39)	missense	possibly damaging	0.93
R9710:Ryr3	UTSW	2	112,633,534 (GRCm39)	missense	probably damaging	0.99
R9741:Ryr3	UTSW	2	112,477,271 (GRCm39)	missense	probably benign	0.00
R9772:Ryr3	UTSW	2	112,657,048 (GRCm39)	missense	probably damaging	0.96
RF010:Ryr3	UTSW	2	112,606,015 (GRCm39)	missense	probably damaging	0.97
RF040:Ryr3	UTSW	2	112,740,869 (GRCm39)	critical splice acceptor site	probably benign
RF044:Ryr3	UTSW	2	112,740,869 (GRCm39)	critical splice acceptor site	probably benign
X0057:Ryr3	UTSW	2	112,470,504 (GRCm39)	missense	probably damaging	1.00
X0064:Ryr3	UTSW	2	112,742,647 (GRCm39)	missense	probably benign	0.26
Z1088:Ryr3	UTSW	2	112,731,261 (GRCm39)	missense	probably damaging	1.00
Z1176:Ryr3	UTSW	2	112,559,269 (GRCm39)	missense	probably benign	0.01
Z1176:Ryr3	UTSW	2	112,542,719 (GRCm39)	missense	probably damaging	1.00
Z1176:Ryr3	UTSW	2	112,506,265 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGGCAGCTTCCAGACAACTCCTTC -3'
(R):5'- CTGGATTCCTGCTTCACTGTGGAC -3'

Sequencing Primer
(F):5'- TTGTCCACATAGCGGATCAG -3'
(R):5'- CACTGTGGACTTGGGAGAG -3'

Posted On

2014-05-09