Mutagenetix > Incidental Mutation

Incidental Mutation 'R9276:Ryr1'

703292

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29003344-29125179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29102829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 789 (V789L)

Ref Sequence

ENSEMBL: ENSMUSP00000149042 (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: V782L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000032813
Gene: ENSMUSG00000030592
AA Change: V782L

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: V782L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592
AA Change: V782L

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 damaging
Transcript: ENSMUST00000214374
AA Change: V789L

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

Coding Region Coverage

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

Validation Efficiency

99% (83/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,942,688 (GRCm38)	R102S	probably benign	Het
Abitram	A	T	4: 56,806,141 (GRCm38)	K184N	probably benign	Het
Acvr2b	C	T	9: 119,402,550 (GRCm38)	T2M	probably benign	Het
Adamtsl3	A	G	7: 82,557,502 (GRCm38)		probably benign	Het
Adcy7	A	G	8: 88,325,386 (GRCm38)	Y894C	probably damaging	Het
Afdn	T	A	17: 13,804,008 (GRCm38)	C59S	probably damaging	Het
Amt	C	A	9: 108,301,211 (GRCm38)	T339K	probably benign	Het
Ankrd27	G	T	7: 35,620,570 (GRCm38)	V639L	probably benign	Het
Anxa10	G	T	8: 62,096,719 (GRCm38)	Q31K	probably damaging	Het
Ap1g2	T	C	14: 55,102,361 (GRCm38)	T454A	probably benign	Het
Boll	A	T	1: 55,360,653 (GRCm38)	I43N	possibly damaging	Het
Cacna1c	T	C	6: 118,624,433 (GRCm38)	D1472G		Het
Calcrl	T	C	2: 84,375,299 (GRCm38)	N16S	probably benign	Het
Ccdc191	C	T	16: 43,943,678 (GRCm38)	Q501*	probably null	Het
Cchcr1	T	C	17: 35,530,208 (GRCm38)	L658P	probably damaging	Het
Cfap46	A	T	7: 139,621,291 (GRCm38)	C1919S	unknown	Het
Col6a3	G	A	1: 90,807,681 (GRCm38)	L1356F	possibly damaging	Het
Dlc1	A	G	8: 36,579,404 (GRCm38)	S680P	possibly damaging	Het
Dock4	T	G	12: 40,649,405 (GRCm38)	M206R	possibly damaging	Het
Eml5	T	C	12: 98,798,801 (GRCm38)	K1630E	probably damaging	Het
Fat1	A	G	8: 45,035,477 (GRCm38)	T3432A	probably damaging	Het
Fcrl5	G	T	3: 87,435,831 (GRCm38)		probably benign	Het
Fcrla	A	G	1: 170,927,566 (GRCm38)		probably benign	Het
Fut4	C	A	9: 14,751,276 (GRCm38)	D241Y	probably benign	Het
Fzd6	A	G	15: 39,007,567 (GRCm38)		probably benign	Het
Gjc2	T	C	11: 59,177,627 (GRCm38)	T10A	probably damaging	Het
Gle1	C	T	2: 29,939,502 (GRCm38)	H203Y	possibly damaging	Het
Gm5565	A	T	5: 146,160,107 (GRCm38)	I74N	probably damaging	Het
Gnl2	T	A	4: 125,053,457 (GRCm38)	I624K	possibly damaging	Het
Gnpat	C	A	8: 124,887,785 (GRCm38)	N653K	probably benign	Het
Gstcd	A	G	3: 133,071,904 (GRCm38)	L382S	probably damaging	Het
Ipcef1	A	G	10: 6,907,936 (GRCm38)		probably benign	Het
Jmjd7	T	C	2: 120,030,414 (GRCm38)	V115A	possibly damaging	Het
Ltbp2	T	G	12: 84,830,111 (GRCm38)	D440A	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Macf1	T	G	4: 123,434,708 (GRCm38)	D4744A	probably damaging	Het
Mapk11	T	C	15: 89,145,169 (GRCm38)	D230G	probably damaging	Het
Mfsd6	A	C	1: 52,708,355 (GRCm38)	Y450*	probably null	Het
Mtmr9	A	G	14: 63,543,552 (GRCm38)	C30R	probably damaging	Het
Ncf1	G	A	5: 134,221,839 (GRCm38)	Q376*	probably null	Het
Ncor2	C	A	5: 125,036,086 (GRCm38)	R296M		Het
Olfr175-ps1	A	G	16: 58,824,371 (GRCm38)	F113L	probably benign	Het
Or51ah3	A	T	7: 103,560,797 (GRCm38)	T107S	probably damaging	Het
Or5d37	A	G	2: 88,093,462 (GRCm38)	V158A	probably benign	Het
Or8b57	A	T	9: 40,092,336 (GRCm38)	I210K	possibly damaging	Het
Or8b8	C	A	9: 37,898,119 (GRCm38)	S238R	probably benign	Het
Or8k31-ps1	A	T	2: 86,526,048 (GRCm38)	L43*	probably null	Het
Pate9	A	T	9: 36,534,431 (GRCm38)	C75S	probably damaging	Het
Pcsk6	A	T	7: 65,910,202 (GRCm38)	I92F	probably damaging	Het
Plec	A	G	15: 76,176,245 (GRCm38)	V3164A	probably benign	Het
Prss16	A	G	13: 22,006,005 (GRCm38)		probably benign	Het
Ptch2	T	A	4: 117,110,308 (GRCm38)	H724Q	probably damaging	Het
Pzp	A	T	6: 128,522,114 (GRCm38)	F190Y	probably damaging	Het
Rab6a	A	G	7: 100,626,602 (GRCm38)	T41A	probably benign	Het
Rbm6	A	G	9: 107,783,727 (GRCm38)	L879P	probably damaging	Het
Rem1	T	A	2: 152,628,049 (GRCm38)		probably benign	Het
Rnf17	T	C	14: 56,482,097 (GRCm38)	S935P	probably damaging	Het
Scgb2b3	A	T	7: 31,360,103 (GRCm38)	M82K	possibly damaging	Het
Sgce	T	A	6: 4,674,585 (GRCm38)	L451F	probably damaging	Het
Slc25a17	A	C	15: 81,323,613 (GRCm38)	V258G	probably benign	Het
Spidr	G	A	16: 15,966,848 (GRCm38)	T452I	probably benign	Het
Tas2r129	A	G	6: 132,951,613 (GRCm38)	N171S	probably benign	Het
Tbc1d24	A	T	17: 24,186,140 (GRCm38)	V10E	probably damaging	Het
Tdo2	T	G	3: 81,969,578 (GRCm38)	M115L	probably benign	Het
Tdrd9	T	C	12: 112,014,501 (GRCm38)		probably null	Het
Tead1	T	A	7: 112,894,394 (GRCm38)	I376N	probably damaging	Het
Tmem26	A	G	10: 68,778,658 (GRCm38)	H301R	possibly damaging	Het
Tnxb	A	G	17: 34,710,160 (GRCm38)	T2726A	possibly damaging	Het
Trim43c	T	C	9: 88,841,913 (GRCm38)	M164T	probably benign	Het
Trpc1	G	A	9: 95,708,235 (GRCm38)	S723L	probably benign	Het
Txndc15	A	G	13: 55,718,101 (GRCm38)	D126G	probably benign	Het
Urb1	C	T	16: 90,772,575 (GRCm38)		probably benign	Het
Usp25	C	T	16: 77,113,833 (GRCm38)	H926Y	probably benign	Het
Uvssa	T	A	5: 33,414,836 (GRCm38)	M700K	possibly damaging	Het
Vdac1	T	A	11: 52,383,962 (GRCm38)	Y146N	probably damaging	Het
Vmn1r231	A	T	17: 20,890,298 (GRCm38)	S118R	probably benign	Het
Vmn1r41	A	G	6: 89,747,098 (GRCm38)	Y207C	probably damaging	Het
Vmn2r79	A	G	7: 87,037,837 (GRCm38)	I809V	probably damaging	Het
Vnn1	G	A	10: 23,900,896 (GRCm38)	G382R	probably damaging	Het
Xcr1	A	T	9: 123,856,615 (GRCm38)	H27Q	probably benign	Het
Yeats2	T	A	16: 20,157,036 (GRCm38)	N94K	probably benign	Het
Zfp28	C	T	7: 6,394,441 (GRCm38)	T625M	probably damaging	Het
Zfp521	T	C	18: 13,844,641 (GRCm38)	Q905R	probably benign	Het
Zfp804b	T	C	5: 6,771,398 (GRCm38)	D555G	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
R6980:Ryr1	UTSW	7	29,109,387 (GRCm38)	missense	probably benign	0.03
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
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'- GTCCCTGGACAGACATAGGAATC -3'
(R):5'- TTTGACCTTTGACCCTGGTG -3'

Sequencing Primer
(F):5'- CTGGACAGACATAGGAATCAGAGACC -3'
(R):5'- GACCTTTGACCCTGGTGACTTG -3'

Posted On

2022-03-25