Mutagenetix > Incidental Mutation

Incidental Mutation 'R9468:Ryr1'

715273

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 #

R9468 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29003344-29125179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29073085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 2468 (L2468F)

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 damaging
Transcript: ENSMUST00000032813
AA Change: L2461F

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

SMART Domains

Protein: ENSMUSP00000032813
Gene: ENSMUSG00000030592
AA Change: L2461F

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 damaging
Transcript: ENSMUST00000179893
AA Change: L2461F

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

SMART Domains

Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592
AA Change: L2461F

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: L2468F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,957,167 (GRCm38)	N68Y	probably damaging	Het
Acsf3	A	T	8: 122,813,030 (GRCm38)	I466F	probably damaging	Het
Akr1b7	T	C	6: 34,415,381 (GRCm38)	I43T	probably benign	Het
Alyref	T	A	11: 120,595,964 (GRCm38)	D157V	probably damaging	Het
Anapc2	T	C	2: 25,273,120 (GRCm38)	L123P	possibly damaging	Het
Catsperg2	A	T	7: 29,710,007 (GRCm38)		probably null	Het
Ccz1	G	T	5: 143,992,620 (GRCm38)	T330K	probably benign	Het
Chordc1	T	A	9: 18,302,129 (GRCm38)	F92Y	probably benign	Het
Cyp2c29	A	T	19: 39,307,722 (GRCm38)	D199V	probably benign	Het
Cyp2c70	A	G	19: 40,180,445 (GRCm38)	S133P	probably damaging	Het
Dync1li2	G	A	8: 104,420,626 (GRCm38)	P479S	probably benign	Het
Fcmr	G	T	1: 130,874,214 (GRCm38)	K68N	possibly damaging	Het
Frmpd2	T	A	14: 33,544,475 (GRCm38)	D949E	possibly damaging	Het
Fscn2	A	G	11: 120,362,457 (GRCm38)	E250G	probably damaging	Het
Grk2	A	T	19: 4,294,924 (GRCm38)	I39N	probably damaging	Het
Hmmr	T	A	11: 40,723,487 (GRCm38)	R125*	probably null	Het
Jarid2	T	A	13: 44,919,830 (GRCm38)	C1195S	probably damaging	Het
Kcnq4	A	T	4: 120,711,297 (GRCm38)	D407E	probably benign	Het
Kif24	A	T	4: 41,404,794 (GRCm38)	I402N	probably damaging	Het
Kmt2b	A	G	7: 30,585,088 (GRCm38)	V793A	probably damaging	Het
Kntc1	T	C	5: 123,816,713 (GRCm38)	Y2065H	probably damaging	Het
Krt5	C	A	15: 101,707,545 (GRCm38)	S545I	unknown	Het
Larp1b	A	T	3: 40,976,555 (GRCm38)	I290L	probably benign	Het
Lnx2	C	T	5: 147,042,479 (GRCm38)		probably benign	Het
Lonrf2	A	G	1: 38,800,758 (GRCm38)	S419P	probably damaging	Het
Lrrc19	A	T	4: 94,638,284 (GRCm38)	D345E	probably benign	Het
Micu3	T	A	8: 40,354,381 (GRCm38)	L251*	probably null	Het
Mucl1	G	T	15: 103,753,769 (GRCm38)	T57N	possibly damaging	Het
Myh8	C	T	11: 67,306,904 (GRCm38)	R1866W	probably damaging	Het
Ndc80	G	A	17: 71,499,311 (GRCm38)	Q583*	probably null	Het
Nrap	G	A	19: 56,342,200 (GRCm38)	T1143I	possibly damaging	Het
Nrde2	A	G	12: 100,140,009 (GRCm38)	V523A	probably benign	Het
Olfr1121	T	A	2: 87,371,772 (GRCm38)	V80E	probably damaging	Het
Olfr1206	C	T	2: 88,865,451 (GRCm38)	P282L	possibly damaging	Het
Olfr495	C	T	7: 108,395,642 (GRCm38)	P174L	possibly damaging	Het
Olfr520	A	T	7: 99,735,973 (GRCm38)	I277F	possibly damaging	Het
Pcdhb16	T	A	18: 37,478,429 (GRCm38)	S147R	probably damaging	Het
Phf21b	T	C	15: 84,805,098 (GRCm38)	T76A	probably damaging	Het
Pknox2	A	G	9: 36,911,199 (GRCm38)	V218A	probably benign	Het
Plekhg3	C	T	12: 76,560,235 (GRCm38)	T23I	probably damaging	Het
Ptprb	A	G	10: 116,277,369 (GRCm38)	T85A	probably benign	Het
Ptprc	A	G	1: 138,117,016 (GRCm38)	L36P	probably benign	Het
Rasgrf1	A	G	9: 89,998,703 (GRCm38)	Q834R	probably benign	Het
Rnft1	G	A	11: 86,490,416 (GRCm38)	V211I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,920 (GRCm38)		probably benign	Het
Scaf4	C	T	16: 90,229,399 (GRCm38)	A1177T	unknown	Het
Sec14l3	A	G	11: 4,075,200 (GRCm38)	Y270C	probably damaging	Het
Serpind1	A	T	16: 17,336,315 (GRCm38)	K2I	possibly damaging	Het
Slc6a20b	A	G	9: 123,610,351 (GRCm38)	S138P	probably damaging	Het
Son	T	A	16: 91,657,551 (GRCm38)	M1062K	possibly damaging	Het
Sorl1	T	C	9: 42,124,088 (GRCm38)	E9G	probably benign	Het
Stx16	T	C	2: 174,091,534 (GRCm38)	L102P	probably damaging	Het
Syt12	A	T	19: 4,447,716 (GRCm38)	S413T	probably damaging	Het
Tex37	T	C	6: 70,913,643 (GRCm38)	Q55R	probably benign	Het
Tie1	A	G	4: 118,476,179 (GRCm38)	L830P	probably damaging	Het
Tmem156	C	T	5: 65,080,188 (GRCm38)	R43K	probably damaging	Het
Tnfrsf19	A	G	14: 61,024,174 (GRCm38)	S59P	possibly damaging	Het
Tpk1	T	C	6: 43,559,967 (GRCm38)	D54G	probably benign	Het
Trim39	G	T	17: 36,260,600 (GRCm38)	T422K	probably benign	Het
Ttn	T	G	2: 76,705,768 (GRCm38)	E35082A		Het
Vac14	T	A	8: 110,671,106 (GRCm38)	D484E	probably benign	Het
Vmn1r158	G	T	7: 22,790,463 (GRCm38)	T107N	probably damaging	Het
Vmn1r51	T	A	6: 90,129,948 (GRCm38)	I282N	probably damaging	Het
Vps26a	A	T	10: 62,464,737 (GRCm38)	Y217N	probably damaging	Het
Zfp942	G	A	17: 21,929,441 (GRCm38)	T69I	probably benign	Het
Zmym4	A	G	4: 126,907,200 (GRCm38)	S536P	probably benign	Het
Znrf3	A	G	11: 5,338,696 (GRCm38)	V24A	probably damaging	Het
Zranb3	A	G	1: 127,963,759 (GRCm38)		probably null	Het
Zzef1	T	C	11: 72,923,183 (GRCm38)		probably null	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
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
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'- GTCCAGGAAAAGCACCATGG -3'
(R):5'- GACATATACACAAAGGAGGCTTGC -3'

Sequencing Primer
(F):5'- TGCAGACATCTTCGGCTGAAC -3'
(R):5'- CACAAAGGAGGCTTGCTTTACTGTC -3'

Posted On

2022-06-15