Mutagenetix > Incidental Mutation

Incidental Mutation 'R6980:Ryr1'

543769

Institutional Source

Beutler Lab

Gene Symbol

Ryr1

Ensembl Gene

ENSMUSG00000030592

Gene Name

ryanodine receptor 1, skeletal muscle

Synonyms

skrr, calcium release channel isoform 1, Ryr

MMRRC Submission

045088-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6980 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29003344-29125179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29109387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 420 (D420V)

Ref Sequence

ENSEMBL: ENSMUSP00000137123 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032813
AA Change: D420V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032813
Gene: ENSMUSG00000030592
AA Change: D420V

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 benign
Transcript: ENSMUST00000179893
AA Change: D420V

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

SMART Domains

Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592
AA Change: D420V

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 benign
Transcript: ENSMUST00000214374
AA Change: D427V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	A	2: 25,440,866 (GRCm38)	R1189S	possibly damaging	Het
Abcf2	T	C	5: 24,565,972 (GRCm38)	Q594R	probably benign	Het
Abhd18	G	A	3: 40,933,780 (GRCm38)	S353N	probably benign	Het
Adrb1	G	T	19: 56,723,614 (GRCm38)	A415S	probably benign	Het
Art2b	T	C	7: 101,580,473 (GRCm38)	N73S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136 (GRCm38)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139 (GRCm38)		probably benign	Het
BC028528	CACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGT	3: 95,888,168 (GRCm38)		probably benign	Het
Cacna1a	A	G	8: 84,612,285 (GRCm38)	M1753V	possibly damaging	Het
Cbx8	A	T	11: 119,039,461 (GRCm38)	I102N	possibly damaging	Het
Ccdc178	T	A	18: 22,105,563 (GRCm38)	E332D	probably benign	Het
Cfap74	G	A	4: 155,466,352 (GRCm38)		probably benign	Het
Chat	A	T	14: 32,424,154 (GRCm38)	M354K	probably benign	Het
Cmas	A	G	6: 142,756,800 (GRCm38)	T10A	probably damaging	Het
Cyb561d1	A	T	3: 108,200,159 (GRCm38)	L51H	probably benign	Het
D030056L22Rik	A	T	19: 18,717,265 (GRCm38)	N128I	probably damaging	Het
D130043K22Rik	G	T	13: 24,864,781 (GRCm38)	A423S	probably damaging	Het
Dnah14	T	C	1: 181,648,230 (GRCm38)	I1349T	probably benign	Het
Dnajb3	T	G	1: 88,205,014 (GRCm38)	D222A	probably damaging	Het
Dtx1	T	C	5: 120,681,357 (GRCm38)	E592G	probably damaging	Het
Dzank1	C	T	2: 144,490,136 (GRCm38)	G427R	possibly damaging	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm38)	K508Q	probably damaging	Het
Eif4e1b	T	A	13: 54,784,103 (GRCm38)		probably null	Het
Ell2	A	G	13: 75,756,376 (GRCm38)	M159V	probably null	Het
Eml4	G	A	17: 83,451,017 (GRCm38)	V377I	probably benign	Het
Fryl	A	T	5: 73,050,430 (GRCm38)	S2466T	probably benign	Het
Gfpt1	C	A	6: 87,077,089 (GRCm38)	T426K	probably damaging	Het
Gm28710	T	A	5: 16,826,946 (GRCm38)	V533D	possibly damaging	Het
Gm49355	T	C	14: 12,307,173 (GRCm38)		probably benign	Het
Gm5114	T	C	7: 39,409,200 (GRCm38)	I332V	probably benign	Het
Gpr15	T	A	16: 58,718,742 (GRCm38)		probably benign	Het
Gpr179	T	C	11: 97,334,858 (GRCm38)	E2157G	probably benign	Het
Gramd4	A	G	15: 86,131,969 (GRCm38)	N482S	probably benign	Het
Hfm1	A	T	5: 106,880,477 (GRCm38)	I829K	probably benign	Het
Hydin	A	T	8: 110,413,284 (GRCm38)	E728D	possibly damaging	Het
Ifngr2	T	A	16: 91,560,007 (GRCm38)	V143E	probably damaging	Het
Ift172	T	C	5: 31,257,386 (GRCm38)	D1390G	probably benign	Het
Kdf1	A	T	4: 133,528,827 (GRCm38)	D285V	probably damaging	Het
Mast4	C	T	13: 102,804,647 (GRCm38)	V301I	probably damaging	Het
Mdn1	G	A	4: 32,726,942 (GRCm38)		probably null	Het
Megf11	A	G	9: 64,705,850 (GRCm38)	E1016G	probably damaging	Het
Mixl1	G	A	1: 180,696,888 (GRCm38)	A42V	possibly damaging	Het
Mpp2	A	G	11: 102,059,328 (GRCm38)	W567R	probably damaging	Het
Mrgpra6	A	G	7: 47,188,949 (GRCm38)	L136P	probably damaging	Het
Mroh7	T	A	4: 106,700,237 (GRCm38)	I759L	probably benign	Het
Nrxn2	A	G	19: 6,450,579 (GRCm38)	D277G	probably benign	Het
Nup210l	A	T	3: 90,119,927 (GRCm38)	K205N	probably benign	Het
Olfr1040	A	T	2: 86,146,337 (GRCm38)	Y132*	probably null	Het
Olfr1284	A	G	2: 111,379,275 (GRCm38)	I92V	possibly damaging	Het
Olfr475-ps1	A	G	2: 88,623,595 (GRCm38)	*97W	probably null	Het
Olfr603	T	C	7: 103,383,096 (GRCm38)	E302G	probably benign	Het
Oxnad1	C	T	14: 32,085,619 (GRCm38)		probably benign	Het
Pamr1	C	T	2: 102,642,204 (GRCm38)	T616I	probably benign	Het
Pcdhgb5	C	T	18: 37,733,539 (GRCm38)	H796Y	possibly damaging	Het
Pdlim7	G	T	13: 55,508,228 (GRCm38)	D126E	probably benign	Het
Pfdn2	C	T	1: 171,357,897 (GRCm38)		probably benign	Het
Piezo2	T	A	18: 63,082,961 (GRCm38)		probably null	Het
Pms2	A	T	5: 143,912,024 (GRCm38)	I43L	probably benign	Het
Prex2	T	A	1: 11,162,263 (GRCm38)	S851R	probably benign	Het
Ptpn4	T	A	1: 119,743,421 (GRCm38)	E202D	possibly damaging	Het
Rnf40	T	A	7: 127,594,677 (GRCm38)	V455E	probably damaging	Het
Rp1l1	A	G	14: 64,028,720 (GRCm38)	N585S	probably benign	Het
Rrp12	A	G	19: 41,890,143 (GRCm38)	S188P	probably damaging	Het
Rsbn1l	T	A	5: 20,896,484 (GRCm38)	H686L	probably benign	Het
Runx2	C	T	17: 44,735,316 (GRCm38)	V107I	possibly damaging	Het
Rusc2	A	G	4: 43,422,846 (GRCm38)	I994M	probably benign	Het
Sash1	T	C	10: 8,729,848 (GRCm38)	Q926R	probably benign	Het
Scgb3a2	T	A	18: 43,764,434 (GRCm38)	I6N	probably damaging	Het
Sdc3	T	A	4: 130,816,922 (GRCm38)		probably benign	Het
Sik2	A	G	9: 50,897,455 (GRCm38)	V658A	probably benign	Het
Slc25a39	A	G	11: 102,405,775 (GRCm38)	V81A	probably damaging	Het
Snai2	T	A	16: 14,708,249 (GRCm38)	S255T	possibly damaging	Het
Sorbs1	A	T	19: 40,327,616 (GRCm38)	Y371*	probably null	Het
Spata31d1b	A	T	13: 59,715,422 (GRCm38)	H128L	probably benign	Het
Spdl1	A	T	11: 34,830,879 (GRCm38)	M1K	probably null	Het
Tgm3	T	A	2: 130,026,777 (GRCm38)	N211K	probably benign	Het
Tmem116	T	C	5: 121,467,987 (GRCm38)		probably null	Het
Tmem132e	T	A	11: 82,438,386 (GRCm38)		probably null	Het
Tmem53	T	C	4: 117,268,508 (GRCm38)	C251R	probably damaging	Het
Trcg1	A	C	9: 57,245,573 (GRCm38)	D551A	probably damaging	Het
Trp63	T	A	16: 25,802,093 (GRCm38)	F12I	probably benign	Het
Ttn	C	T	2: 76,879,057 (GRCm38)		probably null	Het
Tubgcp4	T	C	2: 121,195,465 (GRCm38)	V596A	probably benign	Het
Ugt2a3	A	C	5: 87,325,632 (GRCm38)	H475Q	probably damaging	Het
Unc79	G	A	12: 103,059,500 (GRCm38)	R382K	probably damaging	Het
Vmn2r58	T	C	7: 41,864,238 (GRCm38)	H327R	possibly damaging	Het
Vmn2r7	G	A	3: 64,716,566 (GRCm38)	T111I	possibly damaging	Het
Zfp318	T	A	17: 46,397,212 (GRCm38)	Y399N	probably damaging	Het

Other mutations in Ryr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ryr1	APN	7	29,102,810 (GRCm38)	missense	probably damaging	1.00
IGL00335:Ryr1	APN	7	29,124,960 (GRCm38)	splice site	probably null
IGL00427:Ryr1	APN	7	29,104,737 (GRCm38)	splice site	probably benign
IGL00559:Ryr1	APN	7	29,012,242 (GRCm38)	splice site	probably benign
IGL00803:Ryr1	APN	7	29,069,645 (GRCm38)	missense	possibly damaging	0.95
IGL00886:Ryr1	APN	7	29,024,229 (GRCm38)	missense	probably damaging	1.00
IGL00948:Ryr1	APN	7	29,020,195 (GRCm38)	missense	possibly damaging	0.78
IGL01017:Ryr1	APN	7	29,082,543 (GRCm38)	missense	probably damaging	0.99
IGL01116:Ryr1	APN	7	29,100,202 (GRCm38)	splice site	probably benign
IGL01385:Ryr1	APN	7	29,056,985 (GRCm38)	missense	probably damaging	1.00
IGL01482:Ryr1	APN	7	29,052,337 (GRCm38)	missense	probably damaging	1.00
IGL01529:Ryr1	APN	7	29,075,227 (GRCm38)	missense	probably damaging	1.00
IGL01543:Ryr1	APN	7	29,091,076 (GRCm38)	missense	probably damaging	1.00
IGL01653:Ryr1	APN	7	29,078,597 (GRCm38)	missense	probably damaging	0.99
IGL01701:Ryr1	APN	7	29,059,810 (GRCm38)	missense	probably damaging	0.98
IGL02051:Ryr1	APN	7	29,071,658 (GRCm38)	missense	probably benign	0.16
IGL02152:Ryr1	APN	7	29,052,015 (GRCm38)	missense	possibly damaging	0.95
IGL02271:Ryr1	APN	7	29,094,047 (GRCm38)	missense	probably benign	0.07
IGL02321:Ryr1	APN	7	29,078,696 (GRCm38)	missense	probably damaging	1.00
IGL02448:Ryr1	APN	7	29,105,066 (GRCm38)	splice site	probably benign
IGL02472:Ryr1	APN	7	29,040,844 (GRCm38)	missense	probably damaging	1.00
IGL02544:Ryr1	APN	7	29,115,599 (GRCm38)	missense	probably benign	0.24
IGL02666:Ryr1	APN	7	29,019,763 (GRCm38)	missense	unknown
IGL02672:Ryr1	APN	7	29,004,519 (GRCm38)	unclassified	probably benign
IGL02677:Ryr1	APN	7	29,110,608 (GRCm38)	missense	probably benign	0.18
IGL02686:Ryr1	APN	7	29,069,550 (GRCm38)	splice site	probably benign
IGL02751:Ryr1	APN	7	29,078,774 (GRCm38)	missense	probably damaging	1.00
IGL02899:Ryr1	APN	7	29,048,795 (GRCm38)	missense	possibly damaging	0.53
IGL02926:Ryr1	APN	7	29,061,540 (GRCm38)	missense	probably damaging	1.00
IGL02950:Ryr1	APN	7	29,097,459 (GRCm38)	missense	probably damaging	1.00
IGL02960:Ryr1	APN	7	29,060,053 (GRCm38)	missense	probably damaging	1.00
IGL02968:Ryr1	APN	7	29,043,893 (GRCm38)	missense	probably damaging	1.00
IGL03070:Ryr1	APN	7	29,070,659 (GRCm38)	missense	probably damaging	1.00
IGL03091:Ryr1	APN	7	29,083,486 (GRCm38)	missense	possibly damaging	0.85
IGL03100:Ryr1	APN	7	29,104,593 (GRCm38)	missense	probably damaging	1.00
IGL03107:Ryr1	APN	7	29,075,199 (GRCm38)	missense	probably damaging	1.00
IGL03117:Ryr1	APN	7	29,102,964 (GRCm38)	missense	probably damaging	1.00
IGL03118:Ryr1	APN	7	29,015,786 (GRCm38)	missense	unknown
IGL03146:Ryr1	APN	7	29,094,032 (GRCm38)	missense	probably benign	0.09
IGL03165:Ryr1	APN	7	29,105,040 (GRCm38)	missense	probably benign	0.22
IGL03220:Ryr1	APN	7	29,059,855 (GRCm38)	missense	probably damaging	1.00
R0017:Ryr1	UTSW	7	29,047,542 (GRCm38)	missense	probably damaging	1.00
R0066:Ryr1	UTSW	7	29,005,567 (GRCm38)	unclassified	probably benign
R0066:Ryr1	UTSW	7	29,005,567 (GRCm38)	unclassified	probably benign
R0069:Ryr1	UTSW	7	29,110,505 (GRCm38)	splice site	probably benign
R0148:Ryr1	UTSW	7	29,052,035 (GRCm38)	missense	probably damaging	0.99
R0266:Ryr1	UTSW	7	29,040,679 (GRCm38)	missense	probably damaging	1.00
R0346:Ryr1	UTSW	7	29,067,588 (GRCm38)	splice site	probably benign
R0387:Ryr1	UTSW	7	29,083,367 (GRCm38)	splice site	probably benign
R0454:Ryr1	UTSW	7	29,036,075 (GRCm38)	missense	probably damaging	0.99
R0494:Ryr1	UTSW	7	29,003,793 (GRCm38)	splice site	probably benign
R0533:Ryr1	UTSW	7	29,078,780 (GRCm38)	missense	probably damaging	1.00
R0585:Ryr1	UTSW	7	29,036,076 (GRCm38)	missense	probably damaging	1.00
R0591:Ryr1	UTSW	7	29,104,795 (GRCm38)	missense	possibly damaging	0.68
R0624:Ryr1	UTSW	7	29,074,609 (GRCm38)	missense	probably damaging	1.00
R0662:Ryr1	UTSW	7	29,100,189 (GRCm38)	missense	probably damaging	1.00
R0849:Ryr1	UTSW	7	29,040,679 (GRCm38)	missense	probably damaging	1.00
R0961:Ryr1	UTSW	7	29,009,697 (GRCm38)	missense	unknown
R1052:Ryr1	UTSW	7	29,096,258 (GRCm38)	missense	probably damaging	0.96
R1218:Ryr1	UTSW	7	29,086,109 (GRCm38)	missense	possibly damaging	0.79
R1340:Ryr1	UTSW	7	29,116,012 (GRCm38)	missense	probably damaging	0.99
R1513:Ryr1	UTSW	7	29,070,621 (GRCm38)	missense	probably damaging	1.00
R1543:Ryr1	UTSW	7	29,083,537 (GRCm38)	missense	possibly damaging	0.67
R1566:Ryr1	UTSW	7	29,092,175 (GRCm38)	missense	possibly damaging	0.95
R1572:Ryr1	UTSW	7	29,062,191 (GRCm38)	missense	probably damaging	1.00
R1623:Ryr1	UTSW	7	29,095,490 (GRCm38)	missense	probably damaging	1.00
R1632:Ryr1	UTSW	7	29,094,261 (GRCm38)	missense	probably benign	0.03
R1661:Ryr1	UTSW	7	29,101,738 (GRCm38)	missense	probably damaging	0.98
R1665:Ryr1	UTSW	7	29,036,078 (GRCm38)	missense	probably damaging	1.00
R1678:Ryr1	UTSW	7	29,116,154 (GRCm38)	missense	probably damaging	0.99
R1705:Ryr1	UTSW	7	29,078,564 (GRCm38)	missense	probably damaging	1.00
R1712:Ryr1	UTSW	7	29,047,503 (GRCm38)	missense	probably benign	0.25
R1720:Ryr1	UTSW	7	29,101,870 (GRCm38)	missense	probably damaging	0.99
R1799:Ryr1	UTSW	7	29,067,621 (GRCm38)	missense	probably damaging	1.00
R1847:Ryr1	UTSW	7	29,079,811 (GRCm38)	missense	probably benign	0.43
R1860:Ryr1	UTSW	7	29,009,552 (GRCm38)	missense	unknown
R1861:Ryr1	UTSW	7	29,009,552 (GRCm38)	missense	unknown
R1921:Ryr1	UTSW	7	29,054,944 (GRCm38)	missense	probably damaging	1.00
R1983:Ryr1	UTSW	7	29,059,472 (GRCm38)	missense	possibly damaging	0.74
R2043:Ryr1	UTSW	7	29,059,631 (GRCm38)	missense	probably damaging	0.99
R2089:Ryr1	UTSW	7	29,086,049 (GRCm38)	missense	probably damaging	1.00
R2091:Ryr1	UTSW	7	29,086,049 (GRCm38)	missense	probably damaging	1.00
R2091:Ryr1	UTSW	7	29,086,049 (GRCm38)	missense	probably damaging	1.00
R2105:Ryr1	UTSW	7	29,090,150 (GRCm38)	missense	probably damaging	0.99
R2175:Ryr1	UTSW	7	29,068,442 (GRCm38)	missense	probably damaging	1.00
R2259:Ryr1	UTSW	7	29,019,741 (GRCm38)	missense	unknown
R2291:Ryr1	UTSW	7	29,098,777 (GRCm38)	missense	probably damaging	1.00
R2351:Ryr1	UTSW	7	29,075,293 (GRCm38)	missense	probably benign	0.18
R2512:Ryr1	UTSW	7	29,103,542 (GRCm38)	missense	possibly damaging	0.64
R2571:Ryr1	UTSW	7	29,036,126 (GRCm38)	missense	possibly damaging	0.94
R2571:Ryr1	UTSW	7	29,009,562 (GRCm38)	missense	unknown
R2885:Ryr1	UTSW	7	29,074,798 (GRCm38)	missense	probably damaging	0.99
R2886:Ryr1	UTSW	7	29,074,798 (GRCm38)	missense	probably damaging	0.99
R2889:Ryr1	UTSW	7	29,078,741 (GRCm38)	missense	possibly damaging	0.76
R3051:Ryr1	UTSW	7	29,053,090 (GRCm38)	missense	probably damaging	1.00
R3052:Ryr1	UTSW	7	29,053,090 (GRCm38)	missense	probably damaging	1.00
R3053:Ryr1	UTSW	7	29,053,090 (GRCm38)	missense	probably damaging	1.00
R3082:Ryr1	UTSW	7	29,045,646 (GRCm38)	missense	probably damaging	1.00
R3103:Ryr1	UTSW	7	29,074,948 (GRCm38)	missense	probably damaging	1.00
R3237:Ryr1	UTSW	7	29,069,650 (GRCm38)	critical splice acceptor site	probably null
R3551:Ryr1	UTSW	7	29,056,997 (GRCm38)	missense	probably damaging	1.00
R3552:Ryr1	UTSW	7	29,056,997 (GRCm38)	missense	probably damaging	1.00
R3807:Ryr1	UTSW	7	29,020,152 (GRCm38)	missense	probably damaging	1.00
R3815:Ryr1	UTSW	7	29,072,902 (GRCm38)	missense	probably damaging	0.98
R4010:Ryr1	UTSW	7	29,095,124 (GRCm38)	missense	probably benign	0.41
R4041:Ryr1	UTSW	7	29,085,931 (GRCm38)	missense	possibly damaging	0.77
R4226:Ryr1	UTSW	7	29,062,151 (GRCm38)	nonsense	probably null
R4257:Ryr1	UTSW	7	29,082,450 (GRCm38)	missense	possibly damaging	0.93
R4328:Ryr1	UTSW	7	29,083,059 (GRCm38)	missense	probably damaging	1.00
R4394:Ryr1	UTSW	7	29,094,242 (GRCm38)	missense	possibly damaging	0.69
R4485:Ryr1	UTSW	7	29,090,156 (GRCm38)	missense	probably damaging	0.97
R4550:Ryr1	UTSW	7	29,098,735 (GRCm38)	missense	probably benign	0.05
R4554:Ryr1	UTSW	7	29,105,008 (GRCm38)	missense	probably benign	0.03
R4562:Ryr1	UTSW	7	29,074,580 (GRCm38)	intron	probably benign
R4642:Ryr1	UTSW	7	29,086,038 (GRCm38)	missense	possibly damaging	0.91
R4669:Ryr1	UTSW	7	29,059,831 (GRCm38)	missense	probably null	0.99
R4707:Ryr1	UTSW	7	29,045,662 (GRCm38)	missense	probably damaging	1.00
R4766:Ryr1	UTSW	7	29,085,833 (GRCm38)	missense	probably damaging	0.96
R4768:Ryr1	UTSW	7	29,004,821 (GRCm38)	unclassified	probably benign
R4770:Ryr1	UTSW	7	29,109,282 (GRCm38)	missense	probably damaging	0.99
R4780:Ryr1	UTSW	7	29,095,097 (GRCm38)	missense	possibly damaging	0.85
R4927:Ryr1	UTSW	7	29,019,983 (GRCm38)	missense	unknown
R4933:Ryr1	UTSW	7	29,104,298 (GRCm38)	missense	probably damaging	1.00
R4934:Ryr1	UTSW	7	29,068,095 (GRCm38)	missense	probably damaging	1.00
R4942:Ryr1	UTSW	7	29,069,573 (GRCm38)	missense	probably damaging	0.98
R4960:Ryr1	UTSW	7	29,078,783 (GRCm38)	missense	possibly damaging	0.82
R5007:Ryr1	UTSW	7	29,069,115 (GRCm38)	missense	probably damaging	1.00
R5011:Ryr1	UTSW	7	29,102,809 (GRCm38)	splice site	probably null
R5013:Ryr1	UTSW	7	29,102,809 (GRCm38)	splice site	probably null
R5137:Ryr1	UTSW	7	29,101,858 (GRCm38)	missense	possibly damaging	0.94
R5167:Ryr1	UTSW	7	29,067,693 (GRCm38)	missense	probably damaging	1.00
R5239:Ryr1	UTSW	7	29,036,128 (GRCm38)	missense	probably damaging	1.00
R5291:Ryr1	UTSW	7	29,115,598 (GRCm38)	missense	probably benign	0.03
R5303:Ryr1	UTSW	7	29,068,482 (GRCm38)	missense	probably damaging	1.00
R5386:Ryr1	UTSW	7	29,117,416 (GRCm38)	missense	probably damaging	0.98
R5431:Ryr1	UTSW	7	29,109,812 (GRCm38)	missense	probably benign	0.39
R5460:Ryr1	UTSW	7	29,071,961 (GRCm38)	missense	probably damaging	1.00
R5463:Ryr1	UTSW	7	29,024,023 (GRCm38)	missense	possibly damaging	0.79
R5503:Ryr1	UTSW	7	29,069,028 (GRCm38)	missense	possibly damaging	0.87
R5541:Ryr1	UTSW	7	29,086,185 (GRCm38)	missense	probably damaging	1.00
R5573:Ryr1	UTSW	7	29,015,723 (GRCm38)	missense	unknown
R5575:Ryr1	UTSW	7	29,078,693 (GRCm38)	missense	possibly damaging	0.77
R5610:Ryr1	UTSW	7	29,111,974 (GRCm38)	missense	probably benign	0.05
R5658:Ryr1	UTSW	7	29,091,089 (GRCm38)	splice site	probably null
R5918:Ryr1	UTSW	7	29,009,152 (GRCm38)	missense	probably benign	0.39
R5926:Ryr1	UTSW	7	29,104,360 (GRCm38)	missense	probably damaging	1.00
R5938:Ryr1	UTSW	7	29,046,865 (GRCm38)	missense	probably damaging	1.00
R5939:Ryr1	UTSW	7	29,116,127 (GRCm38)	missense	probably damaging	0.97
R5947:Ryr1	UTSW	7	29,071,924 (GRCm38)	missense	probably null	0.98
R5991:Ryr1	UTSW	7	29,104,610 (GRCm38)	missense	probably damaging	0.99
R5992:Ryr1	UTSW	7	29,067,637 (GRCm38)	missense	probably damaging	1.00
R5996:Ryr1	UTSW	7	29,024,241 (GRCm38)	missense	probably benign	0.38
R6075:Ryr1	UTSW	7	29,087,438 (GRCm38)	missense	probably damaging	1.00
R6091:Ryr1	UTSW	7	29,071,973 (GRCm38)	missense	probably benign	0.01
R6126:Ryr1	UTSW	7	29,076,239 (GRCm38)	missense	probably null	1.00
R6147:Ryr1	UTSW	7	29,085,914 (GRCm38)	missense	possibly damaging	0.88
R6235:Ryr1	UTSW	7	29,116,181 (GRCm38)	missense	probably benign	0.07
R6279:Ryr1	UTSW	7	29,087,428 (GRCm38)	missense	possibly damaging	0.93
R6381:Ryr1	UTSW	7	29,075,257 (GRCm38)	missense	possibly damaging	0.87
R6441:Ryr1	UTSW	7	29,059,695 (GRCm38)	missense	possibly damaging	0.95
R6443:Ryr1	UTSW	7	29,077,078 (GRCm38)	missense	probably damaging	0.97
R6459:Ryr1	UTSW	7	29,015,654 (GRCm38)	missense	probably benign	0.39
R6514:Ryr1	UTSW	7	29,046,841 (GRCm38)	missense	probably damaging	1.00
R6563:Ryr1	UTSW	7	29,095,492 (GRCm38)	missense	possibly damaging	0.92
R6660:Ryr1	UTSW	7	29,038,345 (GRCm38)	critical splice donor site	probably null
R6746:Ryr1	UTSW	7	29,117,404 (GRCm38)	missense	possibly damaging	0.56
R6785:Ryr1	UTSW	7	29,064,874 (GRCm38)	missense	probably benign	0.12
R6800:Ryr1	UTSW	7	29,024,316 (GRCm38)	missense	possibly damaging	0.95
R6939:Ryr1	UTSW	7	29,052,326 (GRCm38)	missense	possibly damaging	0.91
R6995:Ryr1	UTSW	7	29,094,182 (GRCm38)	missense	probably damaging	0.97
R7065:Ryr1	UTSW	7	29,103,643 (GRCm38)	missense	probably damaging	1.00
R7123:Ryr1	UTSW	7	29,046,854 (GRCm38)	missense	probably benign	0.37
R7238:Ryr1	UTSW	7	29,095,382 (GRCm38)	missense	probably benign	0.24
R7240:Ryr1	UTSW	7	29,052,015 (GRCm38)	missense	possibly damaging	0.95
R7300:Ryr1	UTSW	7	29,059,511 (GRCm38)	missense	probably damaging	1.00
R7365:Ryr1	UTSW	7	29,085,755 (GRCm38)	missense	probably benign	0.05
R7403:Ryr1	UTSW	7	29,013,867 (GRCm38)	missense	probably benign	0.34
R7422:Ryr1	UTSW	7	29,085,870 (GRCm38)	missense	probably benign	0.00
R7493:Ryr1	UTSW	7	29,095,205 (GRCm38)	missense	probably benign	0.44
R7570:Ryr1	UTSW	7	29,078,585 (GRCm38)	missense	probably damaging	0.98
R7593:Ryr1	UTSW	7	29,036,103 (GRCm38)	missense	probably damaging	1.00
R7769:Ryr1	UTSW	7	29,098,785 (GRCm38)	missense	probably damaging	1.00
R7781:Ryr1	UTSW	7	29,067,630 (GRCm38)	missense	probably damaging	1.00
R7790:Ryr1	UTSW	7	29,104,832 (GRCm38)	missense	probably benign	0.39
R7799:Ryr1	UTSW	7	29,003,560 (GRCm38)	splice site	probably null
R7916:Ryr1	UTSW	7	29,090,939 (GRCm38)	nonsense	probably null
R7922:Ryr1	UTSW	7	29,097,224 (GRCm38)	missense	probably benign	0.09
R7988:Ryr1	UTSW	7	29,096,171 (GRCm38)	missense	probably benign	0.29
R7997:Ryr1	UTSW	7	29,003,543 (GRCm38)	missense	unknown
R8052:Ryr1	UTSW	7	29,083,385 (GRCm38)	missense	probably benign	0.05
R8096:Ryr1	UTSW	7	29,009,201 (GRCm38)	missense	unknown
R8116:Ryr1	UTSW	7	29,110,883 (GRCm38)	missense	probably benign	0.03
R8202:Ryr1	UTSW	7	29,091,032 (GRCm38)	missense	probably benign	0.18
R8207:Ryr1	UTSW	7	29,090,225 (GRCm38)	missense	probably damaging	1.00
R8248:Ryr1	UTSW	7	29,069,121 (GRCm38)	missense	probably damaging	1.00
R8257:Ryr1	UTSW	7	29,064,639 (GRCm38)	missense	possibly damaging	0.82
R8354:Ryr1	UTSW	7	29,015,717 (GRCm38)	missense	unknown
R8454:Ryr1	UTSW	7	29,015,717 (GRCm38)	missense	unknown
R8487:Ryr1	UTSW	7	29,040,867 (GRCm38)	missense	probably damaging	0.97
R8529:Ryr1	UTSW	7	29,070,084 (GRCm38)	missense	possibly damaging	0.86
R8545:Ryr1	UTSW	7	29,004,814 (GRCm38)	unclassified	probably benign
R8678:Ryr1	UTSW	7	29,077,064 (GRCm38)	missense	probably damaging	0.99
R8717:Ryr1	UTSW	7	29,052,328 (GRCm38)	missense	probably benign	0.03
R8724:Ryr1	UTSW	7	29,117,377 (GRCm38)	missense	probably benign	0.04
R8755:Ryr1	UTSW	7	29,092,268 (GRCm38)	missense	probably benign	0.19
R8772:Ryr1	UTSW	7	29,116,132 (GRCm38)	missense	probably benign	0.05
R8790:Ryr1	UTSW	7	29,076,872 (GRCm38)	missense	probably damaging	1.00
R8793:Ryr1	UTSW	7	29,064,859 (GRCm38)	missense	probably damaging	1.00
R8836:Ryr1	UTSW	7	29,074,666 (GRCm38)	missense	probably damaging	1.00
R8858:Ryr1	UTSW	7	29,109,213 (GRCm38)	missense	probably benign	0.00
R8910:Ryr1	UTSW	7	29,071,915 (GRCm38)	missense	probably damaging	1.00
R8920:Ryr1	UTSW	7	29,090,215 (GRCm38)	missense	possibly damaging	0.89
R8938:Ryr1	UTSW	7	29,101,933 (GRCm38)	missense	probably damaging	1.00
R9035:Ryr1	UTSW	7	29,090,997 (GRCm38)	missense	probably damaging	0.97
R9115:Ryr1	UTSW	7	29,104,564 (GRCm38)	nonsense	probably null
R9123:Ryr1	UTSW	7	29,071,804 (GRCm38)	missense	probably damaging	1.00
R9154:Ryr1	UTSW	7	29,069,858 (GRCm38)	missense	probably benign	0.08
R9189:Ryr1	UTSW	7	29,077,046 (GRCm38)	missense	probably damaging	1.00
R9200:Ryr1	UTSW	7	29,095,099 (GRCm38)	missense	probably benign	0.00
R9214:Ryr1	UTSW	7	29,085,762 (GRCm38)	missense	possibly damaging	0.52
R9216:Ryr1	UTSW	7	29,101,852 (GRCm38)	missense	probably damaging	0.97
R9240:Ryr1	UTSW	7	29,043,888 (GRCm38)	missense	probably damaging	1.00
R9261:Ryr1	UTSW	7	29,052,388 (GRCm38)	missense	possibly damaging	0.91
R9276:Ryr1	UTSW	7	29,102,829 (GRCm38)	missense	probably damaging	0.99
R9280:Ryr1	UTSW	7	29,102,964 (GRCm38)	missense	probably damaging	1.00
R9316:Ryr1	UTSW	7	29,017,962 (GRCm38)	missense	unknown
R9333:Ryr1	UTSW	7	29,074,789 (GRCm38)	critical splice donor site	probably null
R9459:Ryr1	UTSW	7	29,068,643 (GRCm38)	missense	probably damaging	1.00
R9468:Ryr1	UTSW	7	29,073,085 (GRCm38)	missense	probably damaging	1.00
R9486:Ryr1	UTSW	7	29,078,540 (GRCm38)	missense	probably benign	0.15
R9524:Ryr1	UTSW	7	29,024,175 (GRCm38)	missense	probably damaging	1.00
R9620:Ryr1	UTSW	7	29,015,713 (GRCm38)	missense	unknown
R9664:Ryr1	UTSW	7	29,059,667 (GRCm38)	missense	probably damaging	1.00
R9776:Ryr1	UTSW	7	29,075,239 (GRCm38)	missense	probably damaging	1.00
X0021:Ryr1	UTSW	7	29,061,531 (GRCm38)	missense	probably damaging	1.00
Z1176:Ryr1	UTSW	7	29,103,498 (GRCm38)	missense	probably damaging	1.00
Z1176:Ryr1	UTSW	7	29,086,035 (GRCm38)	missense	probably benign	0.10
Z1176:Ryr1	UTSW	7	29,020,214 (GRCm38)	missense	probably damaging	1.00
Z1177:Ryr1	UTSW	7	29,101,922 (GRCm38)	missense	probably damaging	1.00
Z1177:Ryr1	UTSW	7	29,048,792 (GRCm38)	nonsense	probably null
Z1177:Ryr1	UTSW	7	29,017,985 (GRCm38)	missense	unknown
Z1186:Ryr1	UTSW	7	29,082,477 (GRCm38)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCTTTACCTCCTCCTGGAAG -3'
(R):5'- GCGACCATCACCTAAGTTTCAC -3'

Sequencing Primer
(F):5'- TCCTGGAAGAGGCTCTGTC -3'
(R):5'- AGCACTCAAACCCTTGCTTGG -3'

Posted On

2019-05-13