Mutagenetix > Incidental Mutation

Incidental Mutation 'R4669:Ryr1'

352259

Institutional Source

Beutler Lab

Gene Symbol

Ryr1

Ensembl Gene

ENSMUSG00000030592

Gene Name

ryanodine receptor 1, skeletal muscle

Synonyms

calcium release channel isoform 1, Ryr, skrr

MMRRC Submission

041925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28702765-28824599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28759256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3338 (D3338G)

Ref Sequence

ENSEMBL: ENSMUSP00000149042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032813] [ENSMUST00000179893] [ENSMUST00000179893] [ENSMUST00000214374]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032813
AA Change: D3331G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032813
Gene: ENSMUSG00000030592
AA Change: D3331G

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
MIR	99	154	7.52e-4	SMART
MIR	161	206	1.11e-6	SMART
MIR	212	266	1.23e-8	SMART
MIR	272	362	1.05e-25	SMART
Pfam:RYDR_ITPR	441	645	1.2e-73	PFAM
SPRY	660	798	2.79e-27	SMART
Pfam:RyR	851	945	6.5e-33	PFAM
Pfam:RyR	965	1059	1.5e-30	PFAM
SPRY	1086	1209	8.62e-42	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1340	1349	N/A	INTRINSIC
SPRY	1431	1571	3.05e-33	SMART
low complexity region	1787	1798	N/A	INTRINSIC
coiled coil region	1871	1932	N/A	INTRINSIC
low complexity region	1989	1998	N/A	INTRINSIC
low complexity region	2048	2057	N/A	INTRINSIC
low complexity region	2069	2092	N/A	INTRINSIC
Pfam:RYDR_ITPR	2158	2366	7e-66	PFAM
low complexity region	2390	2404	N/A	INTRINSIC
Pfam:RyR	2735	2829	9.7e-34	PFAM
Pfam:RyR	2855	2943	5.7e-32	PFAM
low complexity region	3130	3144	N/A	INTRINSIC
low complexity region	3290	3304	N/A	INTRINSIC
low complexity region	3375	3394	N/A	INTRINSIC
PDB:2BCX\|B	3613	3642	2e-13	PDB
low complexity region	3681	3691	N/A	INTRINSIC
low complexity region	3735	3760	N/A	INTRINSIC
Pfam:RIH_assoc	3872	4004	1.9e-41	PFAM
low complexity region	4010	4023	N/A	INTRINSIC
Pfam:EF-hand_8	4085	4136	9.8e-8	PFAM
transmembrane domain	4283	4305	N/A	INTRINSIC
transmembrane domain	4318	4336	N/A	INTRINSIC
transmembrane domain	4341	4363	N/A	INTRINSIC
Pfam:RR_TM4-6	4377	4666	2e-86	PFAM
Pfam:Ion_trans	4761	4932	3.4e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000179893
AA Change: D3331G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592
AA Change: D3331G

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
MIR	99	154	7.52e-4	SMART
MIR	161	206	1.11e-6	SMART
MIR	212	266	1.23e-8	SMART
MIR	272	362	1.05e-25	SMART
Pfam:RYDR_ITPR	443	638	4.5e-63	PFAM
SPRY	660	798	2.79e-27	SMART
Pfam:RyR	852	942	1.3e-37	PFAM
Pfam:RyR	966	1056	1.6e-28	PFAM
SPRY	1086	1209	8.62e-42	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1340	1349	N/A	INTRINSIC
SPRY	1431	1571	3.05e-33	SMART
low complexity region	1787	1798	N/A	INTRINSIC
coiled coil region	1871	1932	N/A	INTRINSIC
low complexity region	1989	1998	N/A	INTRINSIC
low complexity region	2048	2057	N/A	INTRINSIC
low complexity region	2069	2092	N/A	INTRINSIC
Pfam:RYDR_ITPR	2160	2366	2.2e-68	PFAM
low complexity region	2390	2404	N/A	INTRINSIC
Pfam:RyR	2736	2826	7.2e-31	PFAM
Pfam:RyR	2856	2940	5.6e-27	PFAM
low complexity region	3130	3144	N/A	INTRINSIC
low complexity region	3290	3304	N/A	INTRINSIC
low complexity region	3375	3394	N/A	INTRINSIC
PDB:2BCX\|B	3615	3644	2e-13	PDB
low complexity region	3683	3693	N/A	INTRINSIC
low complexity region	3737	3762	N/A	INTRINSIC
Pfam:RIH_assoc	3878	3996	6.2e-35	PFAM
low complexity region	4012	4025	N/A	INTRINSIC
Pfam:EF-hand_8	4087	4137	1.8e-8	PFAM
transmembrane domain	4285	4307	N/A	INTRINSIC
transmembrane domain	4320	4338	N/A	INTRINSIC
transmembrane domain	4343	4365	N/A	INTRINSIC
Pfam:RR_TM4-6	4379	4668	8.4e-76	PFAM
Pfam:Ion_trans	4763	4946	2.8e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000179893
AA Change: D3331G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592
AA Change: D3331G

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
MIR	99	154	7.52e-4	SMART
MIR	161	206	1.11e-6	SMART
MIR	212	266	1.23e-8	SMART
MIR	272	362	1.05e-25	SMART
Pfam:RYDR_ITPR	443	638	4.5e-63	PFAM
SPRY	660	798	2.79e-27	SMART
Pfam:RyR	852	942	1.3e-37	PFAM
Pfam:RyR	966	1056	1.6e-28	PFAM
SPRY	1086	1209	8.62e-42	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1340	1349	N/A	INTRINSIC
SPRY	1431	1571	3.05e-33	SMART
low complexity region	1787	1798	N/A	INTRINSIC
coiled coil region	1871	1932	N/A	INTRINSIC
low complexity region	1989	1998	N/A	INTRINSIC
low complexity region	2048	2057	N/A	INTRINSIC
low complexity region	2069	2092	N/A	INTRINSIC
Pfam:RYDR_ITPR	2160	2366	2.2e-68	PFAM
low complexity region	2390	2404	N/A	INTRINSIC
Pfam:RyR	2736	2826	7.2e-31	PFAM
Pfam:RyR	2856	2940	5.6e-27	PFAM
low complexity region	3130	3144	N/A	INTRINSIC
low complexity region	3290	3304	N/A	INTRINSIC
low complexity region	3375	3394	N/A	INTRINSIC
PDB:2BCX\|B	3615	3644	2e-13	PDB
low complexity region	3683	3693	N/A	INTRINSIC
low complexity region	3737	3762	N/A	INTRINSIC
Pfam:RIH_assoc	3878	3996	6.2e-35	PFAM
low complexity region	4012	4025	N/A	INTRINSIC
Pfam:EF-hand_8	4087	4137	1.8e-8	PFAM
transmembrane domain	4285	4307	N/A	INTRINSIC
transmembrane domain	4320	4338	N/A	INTRINSIC
transmembrane domain	4343	4365	N/A	INTRINSIC
Pfam:RR_TM4-6	4379	4668	8.4e-76	PFAM
Pfam:Ion_trans	4763	4946	2.8e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214374
AA Change: D3338G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Acan	A	G	7: 78,750,890 (GRCm39)	E464G	probably benign	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,552,343 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,129,307 (GRCm39)	D217G	probably benign	Het
Arl2	C	A	19: 6,184,716 (GRCm39)	R179L	probably damaging	Het
Atg2a	T	A	19: 6,309,017 (GRCm39)		probably null	Het
B3gat1	T	A	9: 26,663,052 (GRCm39)	L6Q	probably benign	Het
Bcl10	A	G	3: 145,636,327 (GRCm39)	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Brms1l	A	G	12: 55,888,356 (GRCm39)	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,226,322 (GRCm39)	N414K	possibly damaging	Het
Capn2	C	T	1: 182,298,345 (GRCm39)	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,157,021 (GRCm39)	R99M	probably damaging	Het
Ccdc51	A	G	9: 108,920,030 (GRCm39)	N142S	probably benign	Het
Cdipt	A	G	7: 126,577,578 (GRCm39)	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cts3	C	T	13: 61,714,637 (GRCm39)	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,637,280 (GRCm39)	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,632,098 (GRCm39)	H90L	probably benign	Het
Ddx4	T	C	13: 112,758,778 (GRCm39)	Y261C	probably damaging	Het
Dnah17	T	C	11: 117,965,119 (GRCm39)	T2308A	probably benign	Het
Dnah6	T	C	6: 73,014,671 (GRCm39)	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,343,664 (GRCm39)	V494I	possibly damaging	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,752,717 (GRCm39)	I78V	probably benign	Het
Esam	T	A	9: 37,447,952 (GRCm39)	Y195*	probably null	Het
Extl3	T	A	14: 65,313,745 (GRCm39)	N479I	possibly damaging	Het
Fat2	A	G	11: 55,202,441 (GRCm39)	V211A	probably benign	Het
Ganc	G	T	2: 120,261,548 (GRCm39)	V343F	probably benign	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Gnmt	A	T	17: 47,037,225 (GRCm39)	C186*	probably null	Het
Gpr75	A	T	11: 30,842,072 (GRCm39)	I326F	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T23	G	T	17: 36,342,690 (GRCm39)	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,325,804 (GRCm39)	R4277L	probably benign	Het
Irf9	C	A	14: 55,843,223 (GRCm39)	H94N	probably benign	Het
Jhy	T	C	9: 40,872,449 (GRCm39)	N20S	probably benign	Het
Klf17	C	A	4: 117,617,568 (GRCm39)	C263F	probably damaging	Het
Lama5	T	C	2: 179,822,430 (GRCm39)	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,044,953 (GRCm39)	I882S	probably damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Mael	T	C	1: 166,063,077 (GRCm39)	E125G	probably damaging	Het
Mib2	C	T	4: 155,741,872 (GRCm39)	D275N	possibly damaging	Het
Mical3	C	T	6: 120,934,664 (GRCm39)	R1805Q	probably damaging	Het
Mix23	A	G	16: 35,903,089 (GRCm39)	D27G	probably damaging	Het
Mllt10	A	G	2: 18,208,444 (GRCm39)	D158G	probably damaging	Het
Mocs1	A	G	17: 49,761,613 (GRCm39)	D569G	possibly damaging	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,707,260 (GRCm39)	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,029,675 (GRCm39)	V164A	probably benign	Het
Nek9	T	C	12: 85,360,978 (GRCm39)	E518G	probably benign	Het
Nfatc2	T	C	2: 168,413,410 (GRCm39)	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,074,793 (GRCm39)	A746T	possibly damaging	Het
Nup42	A	G	5: 24,387,415 (GRCm39)	R402G	probably benign	Het
Ogdh	G	T	11: 6,290,600 (GRCm39)	C406F	probably benign	Het
Or3a1d	A	G	11: 74,237,789 (GRCm39)	V207A	probably benign	Het
Or4c120	G	A	2: 89,001,245 (GRCm39)	H104Y	probably damaging	Het
Or8b35	A	T	9: 37,904,381 (GRCm39)	I198F	possibly damaging	Het
Or8g17	T	A	9: 38,930,675 (GRCm39)	Y54F	probably benign	Het
Or8j3	A	T	2: 86,028,277 (GRCm39)	M273K	possibly damaging	Het
Otof	A	G	5: 30,578,318 (GRCm39)		probably null	Het
Pcdhb17	T	C	18: 37,619,259 (GRCm39)	S350P	probably damaging	Het
Phf3	T	C	1: 30,869,027 (GRCm39)	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,001,517 (GRCm39)	E465G	probably damaging	Het
Prkg1	T	A	19: 31,641,639 (GRCm39)	I15F	probably damaging	Het
Rab5c	A	G	11: 100,610,843 (GRCm39)	F22L	probably damaging	Het
Raf1	A	G	6: 115,609,880 (GRCm39)	S220P	probably damaging	Het
Rgl1	T	G	1: 152,397,122 (GRCm39)	R716S	probably damaging	Het
Rhbg	C	A	3: 88,153,273 (GRCm39)	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,027,053 (GRCm39)	E159G	possibly damaging	Het
Sash1	T	C	10: 8,606,149 (GRCm39)	N747S	probably benign	Het
Serpina3g	A	T	12: 104,205,479 (GRCm39)	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,574,213 (GRCm39)	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,184,640 (GRCm39)	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,649,965 (GRCm39)	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,561,772 (GRCm39)	Y164H	probably benign	Het
Snx9	A	G	17: 5,977,499 (GRCm39)	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,434,273 (GRCm39)	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,459 (GRCm39)	V704A	probably benign	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Strap	C	A	6: 137,712,384 (GRCm39)	S11*	probably null	Het
Synpo2	A	G	3: 122,906,712 (GRCm39)	L868P	probably damaging	Het
Tenm2	A	G	11: 35,901,314 (GRCm39)	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,029,228 (GRCm39)	V92D	probably damaging	Het
Tmf1	A	T	6: 97,147,388 (GRCm39)	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,525,068 (GRCm39)	I576V	probably benign	Het
Upk1a	T	G	7: 30,304,554 (GRCm39)	T193P	probably benign	Het
Vmn2r67	A	T	7: 84,799,732 (GRCm39)	V502E	probably benign	Het
Wdr17	A	G	8: 55,143,083 (GRCm39)	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,236,153 (GRCm39)	S161C	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	probably damaging	Het
Zfp605	T	A	5: 110,275,227 (GRCm39)	M115K	possibly damaging	Het
Zp1	T	A	19: 10,896,269 (GRCm39)	H152L	probably benign	Het

Other mutations in Ryr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ryr1	APN	7	28,802,235 (GRCm39)	missense	probably damaging	1.00
IGL00335:Ryr1	APN	7	28,824,385 (GRCm39)	splice site	probably null
IGL00427:Ryr1	APN	7	28,804,162 (GRCm39)	splice site	probably benign
IGL00559:Ryr1	APN	7	28,711,667 (GRCm39)	splice site	probably benign
IGL00803:Ryr1	APN	7	28,769,070 (GRCm39)	missense	possibly damaging	0.95
IGL00886:Ryr1	APN	7	28,723,654 (GRCm39)	missense	probably damaging	1.00
IGL00948:Ryr1	APN	7	28,719,620 (GRCm39)	missense	possibly damaging	0.78
IGL01017:Ryr1	APN	7	28,781,968 (GRCm39)	missense	probably damaging	0.99
IGL01116:Ryr1	APN	7	28,799,627 (GRCm39)	splice site	probably benign
IGL01385:Ryr1	APN	7	28,756,410 (GRCm39)	missense	probably damaging	1.00
IGL01482:Ryr1	APN	7	28,751,762 (GRCm39)	missense	probably damaging	1.00
IGL01529:Ryr1	APN	7	28,774,652 (GRCm39)	missense	probably damaging	1.00
IGL01543:Ryr1	APN	7	28,790,501 (GRCm39)	missense	probably damaging	1.00
IGL01653:Ryr1	APN	7	28,778,022 (GRCm39)	missense	probably damaging	0.99
IGL01701:Ryr1	APN	7	28,759,235 (GRCm39)	missense	probably damaging	0.98
IGL02051:Ryr1	APN	7	28,771,083 (GRCm39)	missense	probably benign	0.16
IGL02152:Ryr1	APN	7	28,751,440 (GRCm39)	missense	possibly damaging	0.95
IGL02271:Ryr1	APN	7	28,793,472 (GRCm39)	missense	probably benign	0.07
IGL02321:Ryr1	APN	7	28,778,121 (GRCm39)	missense	probably damaging	1.00
IGL02448:Ryr1	APN	7	28,804,491 (GRCm39)	splice site	probably benign
IGL02472:Ryr1	APN	7	28,740,269 (GRCm39)	missense	probably damaging	1.00
IGL02544:Ryr1	APN	7	28,815,024 (GRCm39)	missense	probably benign	0.24
IGL02666:Ryr1	APN	7	28,719,188 (GRCm39)	missense	unknown
IGL02672:Ryr1	APN	7	28,703,944 (GRCm39)	unclassified	probably benign
IGL02677:Ryr1	APN	7	28,810,033 (GRCm39)	missense	probably benign	0.18
IGL02686:Ryr1	APN	7	28,768,975 (GRCm39)	splice site	probably benign
IGL02751:Ryr1	APN	7	28,778,199 (GRCm39)	missense	probably damaging	1.00
IGL02899:Ryr1	APN	7	28,748,220 (GRCm39)	missense	possibly damaging	0.53
IGL02926:Ryr1	APN	7	28,760,965 (GRCm39)	missense	probably damaging	1.00
IGL02950:Ryr1	APN	7	28,796,884 (GRCm39)	missense	probably damaging	1.00
IGL02960:Ryr1	APN	7	28,759,478 (GRCm39)	missense	probably damaging	1.00
IGL02968:Ryr1	APN	7	28,743,318 (GRCm39)	missense	probably damaging	1.00
IGL03070:Ryr1	APN	7	28,770,084 (GRCm39)	missense	probably damaging	1.00
IGL03091:Ryr1	APN	7	28,782,911 (GRCm39)	missense	possibly damaging	0.85
IGL03100:Ryr1	APN	7	28,804,018 (GRCm39)	missense	probably damaging	1.00
IGL03107:Ryr1	APN	7	28,774,624 (GRCm39)	missense	probably damaging	1.00
IGL03117:Ryr1	APN	7	28,802,389 (GRCm39)	missense	probably damaging	1.00
IGL03118:Ryr1	APN	7	28,715,211 (GRCm39)	missense	unknown
IGL03146:Ryr1	APN	7	28,793,457 (GRCm39)	missense	probably benign	0.09
IGL03165:Ryr1	APN	7	28,804,465 (GRCm39)	missense	probably benign	0.22
IGL03220:Ryr1	APN	7	28,759,280 (GRCm39)	missense	probably damaging	1.00
R0017:Ryr1	UTSW	7	28,746,967 (GRCm39)	missense	probably damaging	1.00
R0066:Ryr1	UTSW	7	28,704,992 (GRCm39)	unclassified	probably benign
R0066:Ryr1	UTSW	7	28,704,992 (GRCm39)	unclassified	probably benign
R0069:Ryr1	UTSW	7	28,809,930 (GRCm39)	splice site	probably benign
R0148:Ryr1	UTSW	7	28,751,460 (GRCm39)	missense	probably damaging	0.99
R0266:Ryr1	UTSW	7	28,740,104 (GRCm39)	missense	probably damaging	1.00
R0346:Ryr1	UTSW	7	28,767,013 (GRCm39)	splice site	probably benign
R0387:Ryr1	UTSW	7	28,782,792 (GRCm39)	splice site	probably benign
R0454:Ryr1	UTSW	7	28,735,500 (GRCm39)	missense	probably damaging	0.99
R0494:Ryr1	UTSW	7	28,703,218 (GRCm39)	splice site	probably benign
R0533:Ryr1	UTSW	7	28,778,205 (GRCm39)	missense	probably damaging	1.00
R0585:Ryr1	UTSW	7	28,735,501 (GRCm39)	missense	probably damaging	1.00
R0591:Ryr1	UTSW	7	28,804,220 (GRCm39)	missense	possibly damaging	0.68
R0624:Ryr1	UTSW	7	28,774,034 (GRCm39)	missense	probably damaging	1.00
R0662:Ryr1	UTSW	7	28,799,614 (GRCm39)	missense	probably damaging	1.00
R0849:Ryr1	UTSW	7	28,740,104 (GRCm39)	missense	probably damaging	1.00
R0961:Ryr1	UTSW	7	28,709,122 (GRCm39)	missense	unknown
R1052:Ryr1	UTSW	7	28,795,683 (GRCm39)	missense	probably damaging	0.96
R1218:Ryr1	UTSW	7	28,785,534 (GRCm39)	missense	possibly damaging	0.79
R1340:Ryr1	UTSW	7	28,815,437 (GRCm39)	missense	probably damaging	0.99
R1513:Ryr1	UTSW	7	28,770,046 (GRCm39)	missense	probably damaging	1.00
R1543:Ryr1	UTSW	7	28,782,962 (GRCm39)	missense	possibly damaging	0.67
R1566:Ryr1	UTSW	7	28,791,600 (GRCm39)	missense	possibly damaging	0.95
R1572:Ryr1	UTSW	7	28,761,616 (GRCm39)	missense	probably damaging	1.00
R1623:Ryr1	UTSW	7	28,794,915 (GRCm39)	missense	probably damaging	1.00
R1632:Ryr1	UTSW	7	28,793,686 (GRCm39)	missense	probably benign	0.03
R1661:Ryr1	UTSW	7	28,801,163 (GRCm39)	missense	probably damaging	0.98
R1665:Ryr1	UTSW	7	28,735,503 (GRCm39)	missense	probably damaging	1.00
R1678:Ryr1	UTSW	7	28,815,579 (GRCm39)	missense	probably damaging	0.99
R1705:Ryr1	UTSW	7	28,777,989 (GRCm39)	missense	probably damaging	1.00
R1712:Ryr1	UTSW	7	28,746,928 (GRCm39)	missense	probably benign	0.25
R1720:Ryr1	UTSW	7	28,801,295 (GRCm39)	missense	probably damaging	0.99
R1799:Ryr1	UTSW	7	28,767,046 (GRCm39)	missense	probably damaging	1.00
R1847:Ryr1	UTSW	7	28,779,236 (GRCm39)	missense	probably benign	0.43
R1860:Ryr1	UTSW	7	28,708,977 (GRCm39)	missense	unknown
R1861:Ryr1	UTSW	7	28,708,977 (GRCm39)	missense	unknown
R1921:Ryr1	UTSW	7	28,754,369 (GRCm39)	missense	probably damaging	1.00
R1983:Ryr1	UTSW	7	28,758,897 (GRCm39)	missense	possibly damaging	0.74
R2043:Ryr1	UTSW	7	28,759,056 (GRCm39)	missense	probably damaging	0.99
R2089:Ryr1	UTSW	7	28,785,474 (GRCm39)	missense	probably damaging	1.00
R2091:Ryr1	UTSW	7	28,785,474 (GRCm39)	missense	probably damaging	1.00
R2091:Ryr1	UTSW	7	28,785,474 (GRCm39)	missense	probably damaging	1.00
R2105:Ryr1	UTSW	7	28,789,575 (GRCm39)	missense	probably damaging	0.99
R2175:Ryr1	UTSW	7	28,767,867 (GRCm39)	missense	probably damaging	1.00
R2259:Ryr1	UTSW	7	28,719,166 (GRCm39)	missense	unknown
R2291:Ryr1	UTSW	7	28,798,202 (GRCm39)	missense	probably damaging	1.00
R2351:Ryr1	UTSW	7	28,774,718 (GRCm39)	missense	probably benign	0.18
R2512:Ryr1	UTSW	7	28,802,967 (GRCm39)	missense	possibly damaging	0.64
R2571:Ryr1	UTSW	7	28,735,551 (GRCm39)	missense	possibly damaging	0.94
R2571:Ryr1	UTSW	7	28,708,987 (GRCm39)	missense	unknown
R2885:Ryr1	UTSW	7	28,774,223 (GRCm39)	missense	probably damaging	0.99
R2886:Ryr1	UTSW	7	28,774,223 (GRCm39)	missense	probably damaging	0.99
R2889:Ryr1	UTSW	7	28,778,166 (GRCm39)	missense	possibly damaging	0.76
R3051:Ryr1	UTSW	7	28,752,515 (GRCm39)	missense	probably damaging	1.00
R3052:Ryr1	UTSW	7	28,752,515 (GRCm39)	missense	probably damaging	1.00
R3053:Ryr1	UTSW	7	28,752,515 (GRCm39)	missense	probably damaging	1.00
R3082:Ryr1	UTSW	7	28,745,071 (GRCm39)	missense	probably damaging	1.00
R3103:Ryr1	UTSW	7	28,774,373 (GRCm39)	missense	probably damaging	1.00
R3237:Ryr1	UTSW	7	28,769,075 (GRCm39)	critical splice acceptor site	probably null
R3551:Ryr1	UTSW	7	28,756,422 (GRCm39)	missense	probably damaging	1.00
R3552:Ryr1	UTSW	7	28,756,422 (GRCm39)	missense	probably damaging	1.00
R3807:Ryr1	UTSW	7	28,719,577 (GRCm39)	missense	probably damaging	1.00
R3815:Ryr1	UTSW	7	28,772,327 (GRCm39)	missense	probably damaging	0.98
R4010:Ryr1	UTSW	7	28,794,549 (GRCm39)	missense	probably benign	0.41
R4041:Ryr1	UTSW	7	28,785,356 (GRCm39)	missense	possibly damaging	0.77
R4226:Ryr1	UTSW	7	28,761,576 (GRCm39)	nonsense	probably null
R4257:Ryr1	UTSW	7	28,781,875 (GRCm39)	missense	possibly damaging	0.93
R4328:Ryr1	UTSW	7	28,782,484 (GRCm39)	missense	probably damaging	1.00
R4394:Ryr1	UTSW	7	28,793,667 (GRCm39)	missense	possibly damaging	0.69
R4485:Ryr1	UTSW	7	28,789,581 (GRCm39)	missense	probably damaging	0.97
R4550:Ryr1	UTSW	7	28,798,160 (GRCm39)	missense	probably benign	0.05
R4554:Ryr1	UTSW	7	28,804,433 (GRCm39)	missense	probably benign	0.03
R4562:Ryr1	UTSW	7	28,774,005 (GRCm39)	intron	probably benign
R4642:Ryr1	UTSW	7	28,785,463 (GRCm39)	missense	possibly damaging	0.91
R4707:Ryr1	UTSW	7	28,745,087 (GRCm39)	missense	probably damaging	1.00
R4766:Ryr1	UTSW	7	28,785,258 (GRCm39)	missense	probably damaging	0.96
R4768:Ryr1	UTSW	7	28,704,246 (GRCm39)	unclassified	probably benign
R4770:Ryr1	UTSW	7	28,808,707 (GRCm39)	missense	probably damaging	0.99
R4780:Ryr1	UTSW	7	28,794,522 (GRCm39)	missense	possibly damaging	0.85
R4927:Ryr1	UTSW	7	28,719,408 (GRCm39)	missense	unknown
R4933:Ryr1	UTSW	7	28,803,723 (GRCm39)	missense	probably damaging	1.00
R4934:Ryr1	UTSW	7	28,767,520 (GRCm39)	missense	probably damaging	1.00
R4942:Ryr1	UTSW	7	28,768,998 (GRCm39)	missense	probably damaging	0.98
R4960:Ryr1	UTSW	7	28,778,208 (GRCm39)	missense	possibly damaging	0.82
R5007:Ryr1	UTSW	7	28,768,540 (GRCm39)	missense	probably damaging	1.00
R5011:Ryr1	UTSW	7	28,802,234 (GRCm39)	splice site	probably null
R5013:Ryr1	UTSW	7	28,802,234 (GRCm39)	splice site	probably null
R5137:Ryr1	UTSW	7	28,801,283 (GRCm39)	missense	possibly damaging	0.94
R5167:Ryr1	UTSW	7	28,767,118 (GRCm39)	missense	probably damaging	1.00
R5239:Ryr1	UTSW	7	28,735,553 (GRCm39)	missense	probably damaging	1.00
R5291:Ryr1	UTSW	7	28,815,023 (GRCm39)	missense	probably benign	0.03
R5303:Ryr1	UTSW	7	28,767,907 (GRCm39)	missense	probably damaging	1.00
R5386:Ryr1	UTSW	7	28,816,841 (GRCm39)	missense	probably damaging	0.98
R5431:Ryr1	UTSW	7	28,809,237 (GRCm39)	missense	probably benign	0.39
R5460:Ryr1	UTSW	7	28,771,386 (GRCm39)	missense	probably damaging	1.00
R5463:Ryr1	UTSW	7	28,723,448 (GRCm39)	missense	possibly damaging	0.79
R5503:Ryr1	UTSW	7	28,768,453 (GRCm39)	missense	possibly damaging	0.87
R5541:Ryr1	UTSW	7	28,785,610 (GRCm39)	missense	probably damaging	1.00
R5573:Ryr1	UTSW	7	28,715,148 (GRCm39)	missense	unknown
R5575:Ryr1	UTSW	7	28,778,118 (GRCm39)	missense	possibly damaging	0.77
R5610:Ryr1	UTSW	7	28,811,399 (GRCm39)	missense	probably benign	0.05
R5658:Ryr1	UTSW	7	28,790,514 (GRCm39)	splice site	probably null
R5918:Ryr1	UTSW	7	28,708,577 (GRCm39)	missense	probably benign	0.39
R5926:Ryr1	UTSW	7	28,803,785 (GRCm39)	missense	probably damaging	1.00
R5938:Ryr1	UTSW	7	28,746,290 (GRCm39)	missense	probably damaging	1.00
R5939:Ryr1	UTSW	7	28,815,552 (GRCm39)	missense	probably damaging	0.97
R5947:Ryr1	UTSW	7	28,771,349 (GRCm39)	missense	probably null	0.98
R5991:Ryr1	UTSW	7	28,804,035 (GRCm39)	missense	probably damaging	0.99
R5992:Ryr1	UTSW	7	28,767,062 (GRCm39)	missense	probably damaging	1.00
R5996:Ryr1	UTSW	7	28,723,666 (GRCm39)	missense	probably benign	0.38
R6075:Ryr1	UTSW	7	28,786,863 (GRCm39)	missense	probably damaging	1.00
R6091:Ryr1	UTSW	7	28,771,398 (GRCm39)	missense	probably benign	0.01
R6126:Ryr1	UTSW	7	28,775,664 (GRCm39)	missense	probably null	1.00
R6147:Ryr1	UTSW	7	28,785,339 (GRCm39)	missense	possibly damaging	0.88
R6235:Ryr1	UTSW	7	28,815,606 (GRCm39)	missense	probably benign	0.07
R6279:Ryr1	UTSW	7	28,786,853 (GRCm39)	missense	possibly damaging	0.93
R6381:Ryr1	UTSW	7	28,774,682 (GRCm39)	missense	possibly damaging	0.87
R6441:Ryr1	UTSW	7	28,759,120 (GRCm39)	missense	possibly damaging	0.95
R6443:Ryr1	UTSW	7	28,776,503 (GRCm39)	missense	probably damaging	0.97
R6459:Ryr1	UTSW	7	28,715,079 (GRCm39)	missense	probably benign	0.39
R6514:Ryr1	UTSW	7	28,746,266 (GRCm39)	missense	probably damaging	1.00
R6563:Ryr1	UTSW	7	28,794,917 (GRCm39)	missense	possibly damaging	0.92
R6660:Ryr1	UTSW	7	28,737,770 (GRCm39)	critical splice donor site	probably null
R6746:Ryr1	UTSW	7	28,816,829 (GRCm39)	missense	possibly damaging	0.56
R6785:Ryr1	UTSW	7	28,764,299 (GRCm39)	missense	probably benign	0.12
R6800:Ryr1	UTSW	7	28,723,741 (GRCm39)	missense	possibly damaging	0.95
R6939:Ryr1	UTSW	7	28,751,751 (GRCm39)	missense	possibly damaging	0.91
R6980:Ryr1	UTSW	7	28,808,812 (GRCm39)	missense	probably benign	0.03
R6995:Ryr1	UTSW	7	28,793,607 (GRCm39)	missense	probably damaging	0.97
R7065:Ryr1	UTSW	7	28,803,068 (GRCm39)	missense	probably damaging	1.00
R7123:Ryr1	UTSW	7	28,746,279 (GRCm39)	missense	probably benign	0.37
R7238:Ryr1	UTSW	7	28,794,807 (GRCm39)	missense	probably benign	0.24
R7240:Ryr1	UTSW	7	28,751,440 (GRCm39)	missense	possibly damaging	0.95
R7300:Ryr1	UTSW	7	28,758,936 (GRCm39)	missense	probably damaging	1.00
R7365:Ryr1	UTSW	7	28,785,180 (GRCm39)	missense	probably benign	0.05
R7403:Ryr1	UTSW	7	28,713,292 (GRCm39)	missense	probably benign	0.34
R7422:Ryr1	UTSW	7	28,785,295 (GRCm39)	missense	probably benign	0.00
R7493:Ryr1	UTSW	7	28,794,630 (GRCm39)	missense	probably benign	0.44
R7570:Ryr1	UTSW	7	28,778,010 (GRCm39)	missense	probably damaging	0.98
R7593:Ryr1	UTSW	7	28,735,528 (GRCm39)	missense	probably damaging	1.00
R7769:Ryr1	UTSW	7	28,798,210 (GRCm39)	missense	probably damaging	1.00
R7781:Ryr1	UTSW	7	28,767,055 (GRCm39)	missense	probably damaging	1.00
R7790:Ryr1	UTSW	7	28,804,257 (GRCm39)	missense	probably benign	0.39
R7799:Ryr1	UTSW	7	28,702,985 (GRCm39)	splice site	probably null
R7916:Ryr1	UTSW	7	28,790,364 (GRCm39)	nonsense	probably null
R7922:Ryr1	UTSW	7	28,796,649 (GRCm39)	missense	probably benign	0.09
R7988:Ryr1	UTSW	7	28,795,596 (GRCm39)	missense	probably benign	0.29
R7997:Ryr1	UTSW	7	28,702,968 (GRCm39)	missense	unknown
R8052:Ryr1	UTSW	7	28,782,810 (GRCm39)	missense	probably benign	0.05
R8096:Ryr1	UTSW	7	28,708,626 (GRCm39)	missense	unknown
R8116:Ryr1	UTSW	7	28,810,308 (GRCm39)	missense	probably benign	0.03
R8202:Ryr1	UTSW	7	28,790,457 (GRCm39)	missense	probably benign	0.18
R8207:Ryr1	UTSW	7	28,789,650 (GRCm39)	missense	probably damaging	1.00
R8248:Ryr1	UTSW	7	28,768,546 (GRCm39)	missense	probably damaging	1.00
R8257:Ryr1	UTSW	7	28,764,064 (GRCm39)	missense	possibly damaging	0.82
R8354:Ryr1	UTSW	7	28,715,142 (GRCm39)	missense	unknown
R8454:Ryr1	UTSW	7	28,715,142 (GRCm39)	missense	unknown
R8487:Ryr1	UTSW	7	28,740,292 (GRCm39)	missense	probably damaging	0.97
R8529:Ryr1	UTSW	7	28,769,509 (GRCm39)	missense	possibly damaging	0.86
R8545:Ryr1	UTSW	7	28,704,239 (GRCm39)	unclassified	probably benign
R8678:Ryr1	UTSW	7	28,776,489 (GRCm39)	missense	probably damaging	0.99
R8717:Ryr1	UTSW	7	28,751,753 (GRCm39)	missense	probably benign	0.03
R8724:Ryr1	UTSW	7	28,816,802 (GRCm39)	missense	probably benign	0.04
R8755:Ryr1	UTSW	7	28,791,693 (GRCm39)	missense	probably benign	0.19
R8772:Ryr1	UTSW	7	28,815,557 (GRCm39)	missense	probably benign	0.05
R8790:Ryr1	UTSW	7	28,776,297 (GRCm39)	missense	probably damaging	1.00
R8793:Ryr1	UTSW	7	28,764,284 (GRCm39)	missense	probably damaging	1.00
R8836:Ryr1	UTSW	7	28,774,091 (GRCm39)	missense	probably damaging	1.00
R8858:Ryr1	UTSW	7	28,808,638 (GRCm39)	missense	probably benign	0.00
R8910:Ryr1	UTSW	7	28,771,340 (GRCm39)	missense	probably damaging	1.00
R8920:Ryr1	UTSW	7	28,789,640 (GRCm39)	missense	possibly damaging	0.89
R8938:Ryr1	UTSW	7	28,801,358 (GRCm39)	missense	probably damaging	1.00
R9035:Ryr1	UTSW	7	28,790,422 (GRCm39)	missense	probably damaging	0.97
R9115:Ryr1	UTSW	7	28,803,989 (GRCm39)	nonsense	probably null
R9123:Ryr1	UTSW	7	28,771,229 (GRCm39)	missense	probably damaging	1.00
R9154:Ryr1	UTSW	7	28,769,283 (GRCm39)	missense	probably benign	0.08
R9189:Ryr1	UTSW	7	28,776,471 (GRCm39)	missense	probably damaging	1.00
R9200:Ryr1	UTSW	7	28,794,524 (GRCm39)	missense	probably benign	0.00
R9214:Ryr1	UTSW	7	28,785,187 (GRCm39)	missense	possibly damaging	0.52
R9216:Ryr1	UTSW	7	28,801,277 (GRCm39)	missense	probably damaging	0.97
R9240:Ryr1	UTSW	7	28,743,313 (GRCm39)	missense	probably damaging	1.00
R9261:Ryr1	UTSW	7	28,751,813 (GRCm39)	missense	possibly damaging	0.91
R9276:Ryr1	UTSW	7	28,802,254 (GRCm39)	missense	probably damaging	0.99
R9280:Ryr1	UTSW	7	28,802,389 (GRCm39)	missense	probably damaging	1.00
R9316:Ryr1	UTSW	7	28,717,387 (GRCm39)	missense	unknown
R9333:Ryr1	UTSW	7	28,774,214 (GRCm39)	critical splice donor site	probably null
R9459:Ryr1	UTSW	7	28,768,068 (GRCm39)	missense	probably damaging	1.00
R9468:Ryr1	UTSW	7	28,772,510 (GRCm39)	missense	probably damaging	1.00
R9486:Ryr1	UTSW	7	28,777,965 (GRCm39)	missense	probably benign	0.15
R9524:Ryr1	UTSW	7	28,723,600 (GRCm39)	missense	probably damaging	1.00
R9620:Ryr1	UTSW	7	28,715,138 (GRCm39)	missense	unknown
R9664:Ryr1	UTSW	7	28,759,092 (GRCm39)	missense	probably damaging	1.00
R9776:Ryr1	UTSW	7	28,774,664 (GRCm39)	missense	probably damaging	1.00
X0021:Ryr1	UTSW	7	28,760,956 (GRCm39)	missense	probably damaging	1.00
Z1176:Ryr1	UTSW	7	28,802,923 (GRCm39)	missense	probably damaging	1.00
Z1176:Ryr1	UTSW	7	28,785,460 (GRCm39)	missense	probably benign	0.10
Z1176:Ryr1	UTSW	7	28,719,639 (GRCm39)	missense	probably damaging	1.00
Z1177:Ryr1	UTSW	7	28,801,347 (GRCm39)	missense	probably damaging	1.00
Z1177:Ryr1	UTSW	7	28,748,217 (GRCm39)	nonsense	probably null
Z1177:Ryr1	UTSW	7	28,717,410 (GRCm39)	missense	unknown
Z1186:Ryr1	UTSW	7	28,781,902 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TCTACGTAGCGGATGAGCAG -3'
(R):5'- TACGTTGCCTATGCTGTGCAG -3'

Sequencing Primer
(F):5'- TTACGCAATCGCCCGATG -3'
(R):5'- AGCTACCTGCCCCGCTG -3'

Posted On

2015-10-08