Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Ryr3'

558324

Institutional Source

Beutler Lab

Gene Symbol

Ryr3

Ensembl Gene

ENSMUSG00000057378

Gene Name

ryanodine receptor 3

Synonyms

calcium release channel isoform 3

MMRRC Submission

045264-MU

Accession Numbers

Essential gene?

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

Stock #

R7172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112461700-113047441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112492002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 3783 (N3783I)

Ref Sequence

ENSEMBL: ENSMUSP00000089426 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000080673
AA Change: N3758I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378
AA Change: N3758I

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 damaging
Transcript: ENSMUST00000091818
AA Change: N3783I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378
AA Change: N3783I

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: N3753I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208151
AA Change: N3758I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208290
AA Change: N3763I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,480,238 (GRCm39)	Y33F	probably damaging	Het
Abca4	C	T	3: 121,897,189 (GRCm39)	Q623*	probably null	Het
Abcb1a	A	T	5: 8,752,399 (GRCm39)	I457F	probably benign	Het
Abcb9	G	A	5: 124,200,869 (GRCm39)	Q716*	probably null	Het
Abhd15	T	C	11: 77,406,122 (GRCm39)	V33A	probably benign	Het
Abl2	A	G	1: 156,450,157 (GRCm39)	D108G	probably damaging	Het
Adamts3	G	A	5: 90,030,860 (GRCm39)		probably benign	Het
Atmin	G	T	8: 117,683,281 (GRCm39)	V314L	probably damaging	Het
Axl	G	T	7: 25,486,399 (GRCm39)	Q102K	probably benign	Het
Cdhr5	A	G	7: 140,851,841 (GRCm39)	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,016,790 (GRCm39)	A126D	probably damaging	Het
Col25a1	A	T	3: 130,363,981 (GRCm39)	K537*	probably null	Het
Cxcl2	A	G	5: 91,051,879 (GRCm39)	T26A	probably benign	Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dnah17	T	A	11: 117,931,957 (GRCm39)	K3672*	probably null	Het
Fadd	G	T	7: 144,135,908 (GRCm39)	H73Q	probably benign	Het
Fancm	A	G	12: 65,152,828 (GRCm39)	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,218,603 (GRCm39)	S789P	probably damaging	Het
Glis2	G	A	16: 4,431,339 (GRCm39)	V289I	probably benign	Het
Gm17728	A	C	17: 9,641,220 (GRCm39)	D110A	probably damaging	Het
Gm9602	T	A	14: 15,933,429 (GRCm39)	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,917,049 (GRCm39)	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,787,385 (GRCm39)		probably null	Het
Gps2	C	T	11: 69,807,262 (GRCm39)	T306I	probably benign	Het
Hmcn1	A	G	1: 150,629,450 (GRCm39)	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,181,276 (GRCm39)	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,550,894 (GRCm39)	A145S	probably benign	Het
Impdh2	G	T	9: 108,437,809 (GRCm39)	C26F	probably benign	Het
Kcnh6	T	C	11: 105,911,100 (GRCm39)	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,576,691 (GRCm39)	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,188,228 (GRCm39)	M1K	probably null	Het
Klk1b11	A	T	7: 43,648,671 (GRCm39)	D194V	possibly damaging	Het
Lama1	A	G	17: 68,111,540 (GRCm39)	I2264V		Het
Lmntd2	A	G	7: 140,793,554 (GRCm39)	S111P	unknown	Het
Megf8	T	C	7: 25,043,092 (GRCm39)	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,372,321 (GRCm39)	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,863,762 (GRCm39)	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425 (GRCm39)	C15*	probably null	Het
Myh2	A	T	11: 67,079,527 (GRCm39)	T995S	probably benign	Het
Myo1d	C	T	11: 80,483,621 (GRCm39)	V863I	probably benign	Het
N4bp1	A	G	8: 87,587,052 (GRCm39)		probably null	Het
Nat10	G	T	2: 103,563,314 (GRCm39)	P562T	probably damaging	Het
Nedd9	C	G	13: 41,470,280 (GRCm39)	R291P	probably benign	Het
Nlrc3	G	T	16: 3,781,617 (GRCm39)	H613Q	probably benign	Het
Ntn1	A	T	11: 68,276,493 (GRCm39)	C152S	probably damaging	Het
Or2av9	T	A	11: 58,380,571 (GRCm39)	I337F	unknown	Het
Pam	A	T	1: 97,762,203 (GRCm39)	D793E	probably benign	Het
Patz1	T	G	11: 3,258,032 (GRCm39)	V631G	probably benign	Het
Pcdh15	G	A	10: 74,338,597 (GRCm39)	V1068M	probably damaging	Het
Pramel17	A	G	4: 101,694,193 (GRCm39)	V230A	probably benign	Het
Prmt5	A	G	14: 54,752,343 (GRCm39)	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,339,943 (GRCm39)	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,561,156 (GRCm39)	S220R	probably benign	Het
Rdh7	T	G	10: 127,724,218 (GRCm39)	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,701,966 (GRCm39)	W163G	possibly damaging	Het
Shld2	G	A	14: 33,959,525 (GRCm39)	T819I	probably damaging	Het
Slit1	A	G	19: 41,623,105 (GRCm39)	L644P	probably damaging	Het
Steap2	A	G	5: 5,732,896 (GRCm39)	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,981,390 (GRCm39)	M686V	probably damaging	Het
Tdrp	G	A	8: 14,024,579 (GRCm39)	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946 (GRCm39)	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,914,994 (GRCm39)	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,155,618 (GRCm39)	V757E	probably benign	Het
Trim10	A	G	17: 37,180,955 (GRCm39)	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,841,410 (GRCm39)	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,084,386 (GRCm39)	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,838,294 (GRCm39)	N68D	probably damaging	Het
Wdr83	A	G	8: 85,806,453 (GRCm39)	V115A	probably damaging	Het
Zdhhc17	A	G	10: 110,845,809 (GRCm39)	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,818,527 (GRCm39)	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,058,572 (GRCm39)	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,391,753 (GRCm39)	R133S	probably benign	Het
Zscan20	G	T	4: 128,479,469 (GRCm39)	C1007*	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
R1662:Ryr3	UTSW	2	112,539,618 (GRCm39)	missense	probably damaging	0.99
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
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'- TGTCCAATGTAGACCTAATGCCTAC -3'
(R):5'- GGAGGATCTACAAGACTCCAAAT -3'

Sequencing Primer
(F):5'- GTTTTGGTGACCCCCAGACATAAAG -3'
(R):5'- TAAGCTCAGCTAAGAGGC -3'

Posted On

2019-06-26