Mutagenetix > Incidental Mutation

Incidental Mutation 'R1404:Itpr1'

160488

Institutional Source

Beutler Lab

Gene Symbol

Itpr1

Ensembl Gene

ENSMUSG00000030102

Gene Name

inositol 1,4,5-trisphosphate receptor 1

Synonyms

P400, Itpr-1, IP3R1, Pcp1, Pcp-1, Ip3r, InsP3R type I, opt

MMRRC Submission

039466-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R1404 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108213096-108551109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108386648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 744 (C744S)

Ref Sequence

ENSEMBL: ENSMUSP00000144880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032192] [ENSMUST00000203615] [ENSMUST00000212125]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032192
AA Change: C744S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: C744S

Domain	Start	End	E-Value	Type
MIR	112	166	7.99e-8	SMART
MIR	173	223	1.02e-5	SMART
MIR	231	287	2.33e-9	SMART
MIR	294	403	5.95e-16	SMART
Pfam:RYDR_ITPR	474	670	2.3e-61	PFAM
low complexity region	683	695	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
low complexity region	1004	1020	N/A	INTRINSIC
Pfam:RYDR_ITPR	1183	1344	1.9e-14	PFAM
low complexity region	1758	1787	N/A	INTRINSIC
Pfam:RIH_assoc	1959	2069	1.2e-33	PFAM
transmembrane domain	2274	2296	N/A	INTRINSIC
Pfam:Ion_trans	2311	2600	9e-22	PFAM
coiled coil region	2683	2732	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203615
AA Change: C744S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: C744S

Domain	Start	End	E-Value	Type
MIR	112	166	7.99e-8	SMART
MIR	173	223	1.02e-5	SMART
MIR	231	287	2.33e-9	SMART
MIR	294	403	5.95e-16	SMART
Pfam:RYDR_ITPR	474	670	2.3e-61	PFAM
low complexity region	683	695	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
low complexity region	1004	1020	N/A	INTRINSIC
Pfam:RYDR_ITPR	1183	1344	1.9e-14	PFAM
low complexity region	1757	1786	N/A	INTRINSIC
Pfam:RIH_assoc	1958	2068	1.2e-33	PFAM
transmembrane domain	2273	2295	N/A	INTRINSIC
Pfam:Ion_trans	2310	2599	9e-22	PFAM
coiled coil region	2682	2731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203995

Predicted Effect

probably benign
Transcript: ENSMUST00000212125

Meta Mutation Damage Score

0.8836

Coding Region Coverage

1x: 99.0%
3x: 96.4%
10x: 81.1%
20x: 48.7%

Validation Efficiency

MGI Phenotype

Strain: 2180360; 3715928; 1856981
Lethality: D10-D21
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants. [provided by MGI curators]

Allele List at MGI

All alleles(71) : Targeted(2) Gene trapped(67) Spontaneous(2)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc3	A	G	13: 80,883,854 (GRCm38)	T69A	probably damaging	Het
Bbs2	T	C	8: 94,081,999 (GRCm38)	K360R	probably null	Het
Cdh8	A	T	8: 99,279,618 (GRCm38)	N112K	probably damaging	Het
Ces5a	A	T	8: 93,502,181 (GRCm38)	F474I	probably damaging	Het
Doxl2	A	T	6: 48,975,833 (GRCm38)	T231S	probably benign	Het
Dync1i1	G	A	6: 5,915,876 (GRCm38)	D253N	probably damaging	Het
Fam151b	T	C	13: 92,473,972 (GRCm38)	D103G	probably damaging	Het
Fam227b	A	G	2: 126,003,839 (GRCm38)	L410P	probably damaging	Het
Gm17535	A	G	9: 3,035,804 (GRCm38)	Y224C	probably null	Het
Ihh	A	T	1: 74,951,213 (GRCm38)	M1K	probably null	Het
Itga6	A	G	2: 71,838,716 (GRCm38)	T617A	probably benign	Het
Kif5a	T	C	10: 127,245,442 (GRCm38)	I208V	probably benign	Het
Lama4	A	G	10: 39,061,391 (GRCm38)	K659R	probably benign	Het
Lpin3	T	A	2: 160,892,390 (GRCm38)		probably null	Het
Macf1	T	A	4: 123,376,516 (GRCm38)	E6612V	probably damaging	Het
Ncdn	T	C	4: 126,750,040 (GRCm38)	K330E	probably benign	Het
Neb	C	T	2: 52,183,275 (GRCm38)	D1975N	possibly damaging	Het
Nell1	T	A	7: 50,853,873 (GRCm38)	N675K	possibly damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,924,113 (GRCm38)		probably benign	Het
Olfr1317	G	A	2: 112,142,623 (GRCm38)	R226H	probably benign	Het
Rnf43	A	G	11: 87,734,177 (GRCm38)	E737G	possibly damaging	Het
Sardh	C	A	2: 27,239,461 (GRCm38)	W275L	probably damaging	Het
Sfi1	TCGC	TC	11: 3,146,254 (GRCm38)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419 (GRCm38)		probably benign	Het
Sipa1l2	G	A	8: 125,449,973 (GRCm38)	H1185Y	probably damaging	Het
Skp2	G	A	15: 9,116,925 (GRCm38)	Q298*	probably null	Het
Stk4	C	T	2: 164,100,528 (GRCm38)	T360M	probably benign	Het
Stx12	T	A	4: 132,871,649 (GRCm38)	I43L	probably benign	Het
Tmc1	T	A	19: 20,816,184 (GRCm38)	I538F	possibly damaging	Het
Tollip	T	C	7: 141,884,555 (GRCm38)	M209V	probably benign	Het
Ttn	A	T	2: 76,812,968 (GRCm38)	S13202R	probably damaging	Het
Vmn2r60	T	A	7: 42,136,787 (GRCm38)	V338D	probably damaging	Het
Vwa8	T	C	14: 79,026,031 (GRCm38)	L767P	probably damaging	Het
Zfp202	C	T	9: 40,211,496 (GRCm38)	T518I	probably damaging	Het

Other mutations in Itpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Itpr1	APN	6	108,471,120 (GRCm38)	missense	probably damaging	0.98
IGL01073:Itpr1	APN	6	108,413,820 (GRCm38)	missense	probably benign	0.00
IGL01105:Itpr1	APN	6	108,381,333 (GRCm38)	missense	probably benign	0.00
IGL01296:Itpr1	APN	6	108,399,361 (GRCm38)	missense	probably damaging	1.00
IGL01325:Itpr1	APN	6	108,381,208 (GRCm38)	missense	probably benign	0.01
IGL01418:Itpr1	APN	6	108,339,624 (GRCm38)	critical splice donor site	probably null
IGL01464:Itpr1	APN	6	108,386,727 (GRCm38)	missense	possibly damaging	0.95
IGL01467:Itpr1	APN	6	108,488,496 (GRCm38)	missense	probably damaging	0.96
IGL01645:Itpr1	APN	6	108,473,599 (GRCm38)	missense	possibly damaging	0.91
IGL01672:Itpr1	APN	6	108,381,032 (GRCm38)	nonsense	probably null
IGL01969:Itpr1	APN	6	108,377,691 (GRCm38)	missense	probably damaging	1.00
IGL02164:Itpr1	APN	6	108,389,483 (GRCm38)	missense	probably benign	0.08
IGL02206:Itpr1	APN	6	108,549,820 (GRCm38)	missense	probably damaging	1.00
IGL02232:Itpr1	APN	6	108,417,923 (GRCm38)	missense	probably damaging	1.00
IGL02297:Itpr1	APN	6	108,339,517 (GRCm38)	missense	possibly damaging	0.84
IGL02434:Itpr1	APN	6	108,489,922 (GRCm38)	splice site	probably null
IGL02568:Itpr1	APN	6	108,339,554 (GRCm38)	missense	possibly damaging	0.82
IGL02992:Itpr1	APN	6	108,381,315 (GRCm38)	missense	probably damaging	1.00
IGL03109:Itpr1	APN	6	108,417,981 (GRCm38)	missense	probably damaging	1.00
IGL03130:Itpr1	APN	6	108,523,401 (GRCm38)	missense	probably benign	0.00
IGL03333:Itpr1	APN	6	108,380,910 (GRCm38)	unclassified	probably benign
aboriginal	UTSW	6	108,515,947 (GRCm38)	missense	probably benign
approximation	UTSW	6	108,394,841 (GRCm38)	missense	probably benign
estimate	UTSW	6	108,389,553 (GRCm38)	missense	probably null	1.00
icarus	UTSW	6	108,410,900 (GRCm38)	missense	probably damaging	1.00
marsupialized	UTSW	6	108,394,073 (GRCm38)	splice site	probably null
primordial	UTSW	6	108,518,755 (GRCm38)	missense	probably benign	0.06
roo	UTSW	6	108,410,867 (GRCm38)	missense	probably benign	0.00
wallaby	UTSW	6	108,389,387 (GRCm38)	missense	probably damaging	1.00
P0005:Itpr1	UTSW	6	108,381,257 (GRCm38)	missense	probably damaging	1.00
PIT4366001:Itpr1	UTSW	6	108,493,757 (GRCm38)	nonsense	probably null
R0019:Itpr1	UTSW	6	108,354,626 (GRCm38)	missense	probably damaging	1.00
R0128:Itpr1	UTSW	6	108,471,209 (GRCm38)	splice site	probably benign
R0129:Itpr1	UTSW	6	108,349,676 (GRCm38)	missense	probably damaging	1.00
R0135:Itpr1	UTSW	6	108,488,482 (GRCm38)	splice site	probably benign
R0244:Itpr1	UTSW	6	108,473,589 (GRCm38)	missense	probably benign	0.00
R0391:Itpr1	UTSW	6	108,378,167 (GRCm38)	missense	probably benign	0.22
R0543:Itpr1	UTSW	6	108,515,748 (GRCm38)	splice site	probably benign
R0647:Itpr1	UTSW	6	108,383,698 (GRCm38)	missense	probably damaging	1.00
R0766:Itpr1	UTSW	6	108,410,900 (GRCm38)	missense	probably damaging	1.00
R0971:Itpr1	UTSW	6	108,349,629 (GRCm38)	missense	possibly damaging	0.70
R1083:Itpr1	UTSW	6	108,510,696 (GRCm38)	missense	possibly damaging	0.92
R1277:Itpr1	UTSW	6	108,339,621 (GRCm38)	missense	probably benign	0.22
R1403:Itpr1	UTSW	6	108,389,553 (GRCm38)	missense	probably null	1.00
R1403:Itpr1	UTSW	6	108,389,553 (GRCm38)	missense	probably null	1.00
R1404:Itpr1	UTSW	6	108,386,648 (GRCm38)	missense	probably benign	0.04
R1605:Itpr1	UTSW	6	108,349,659 (GRCm38)	missense	possibly damaging	0.77
R1661:Itpr1	UTSW	6	108,482,897 (GRCm38)	missense	probably benign	0.38
R1852:Itpr1	UTSW	6	108,386,706 (GRCm38)	missense	probably damaging	1.00
R1929:Itpr1	UTSW	6	108,493,755 (GRCm38)	missense	probably damaging	1.00
R2012:Itpr1	UTSW	6	108,440,536 (GRCm38)	missense	probably benign	0.02
R2027:Itpr1	UTSW	6	108,386,853 (GRCm38)	missense	possibly damaging	0.80
R2111:Itpr1	UTSW	6	108,378,309 (GRCm38)	unclassified	probably benign
R2166:Itpr1	UTSW	6	108,388,225 (GRCm38)	missense	probably damaging	1.00
R2272:Itpr1	UTSW	6	108,493,755 (GRCm38)	missense	probably damaging	1.00
R2484:Itpr1	UTSW	6	108,369,110 (GRCm38)	missense	probably damaging	1.00
R3115:Itpr1	UTSW	6	108,406,109 (GRCm38)	missense	possibly damaging	0.55
R3751:Itpr1	UTSW	6	108,349,680 (GRCm38)	missense	probably damaging	1.00
R3798:Itpr1	UTSW	6	108,381,270 (GRCm38)	missense	probably damaging	1.00
R3930:Itpr1	UTSW	6	108,394,841 (GRCm38)	missense	probably benign
R4081:Itpr1	UTSW	6	108,391,835 (GRCm38)	missense	probably damaging	1.00
R4119:Itpr1	UTSW	6	108,394,355 (GRCm38)	missense	probably benign
R4406:Itpr1	UTSW	6	108,354,663 (GRCm38)	missense	probably damaging	1.00
R4506:Itpr1	UTSW	6	108,432,686 (GRCm38)	missense	probably damaging	1.00
R4616:Itpr1	UTSW	6	108,481,223 (GRCm38)	missense	probably damaging	1.00
R4655:Itpr1	UTSW	6	108,481,293 (GRCm38)	missense	probably damaging	1.00
R4661:Itpr1	UTSW	6	108,410,931 (GRCm38)	critical splice donor site	probably null
R4760:Itpr1	UTSW	6	108,349,632 (GRCm38)	missense	probably benign	0.29
R4836:Itpr1	UTSW	6	108,389,537 (GRCm38)	missense	probably damaging	0.99
R4857:Itpr1	UTSW	6	108,410,867 (GRCm38)	missense	probably benign	0.00
R4876:Itpr1	UTSW	6	108,482,906 (GRCm38)	missense	probably damaging	0.97
R4939:Itpr1	UTSW	6	108,440,558 (GRCm38)	nonsense	probably null
R5076:Itpr1	UTSW	6	108,405,529 (GRCm38)	splice site	probably null
R5088:Itpr1	UTSW	6	108,389,387 (GRCm38)	missense	probably damaging	1.00
R5248:Itpr1	UTSW	6	108,542,062 (GRCm38)	missense	probably damaging	1.00
R5290:Itpr1	UTSW	6	108,406,145 (GRCm38)	missense	possibly damaging	0.95
R5308:Itpr1	UTSW	6	108,356,511 (GRCm38)	missense	probably damaging	1.00
R5339:Itpr1	UTSW	6	108,393,961 (GRCm38)	missense	probably damaging	1.00
R5368:Itpr1	UTSW	6	108,387,498 (GRCm38)	missense	probably damaging	1.00
R5369:Itpr1	UTSW	6	108,519,424 (GRCm38)	missense	probably damaging	0.99
R5419:Itpr1	UTSW	6	108,493,794 (GRCm38)	missense	possibly damaging	0.95
R5615:Itpr1	UTSW	6	108,488,600 (GRCm38)	missense	possibly damaging	0.71
R5779:Itpr1	UTSW	6	108,352,143 (GRCm38)	missense	probably damaging	1.00
R5781:Itpr1	UTSW	6	108,510,738 (GRCm38)	missense	probably benign	0.23
R5869:Itpr1	UTSW	6	108,473,529 (GRCm38)	missense	probably benign	0.30
R5903:Itpr1	UTSW	6	108,489,797 (GRCm38)	intron	probably benign
R5929:Itpr1	UTSW	6	108,423,336 (GRCm38)	missense	probably benign
R5956:Itpr1	UTSW	6	108,506,027 (GRCm38)	missense	probably benign	0.25
R6160:Itpr1	UTSW	6	108,518,755 (GRCm38)	missense	probably benign	0.06
R6163:Itpr1	UTSW	6	108,388,284 (GRCm38)	missense	probably damaging	1.00
R6169:Itpr1	UTSW	6	108,369,116 (GRCm38)	missense	probably damaging	1.00
R6237:Itpr1	UTSW	6	108,378,203 (GRCm38)	missense	possibly damaging	0.53
R6398:Itpr1	UTSW	6	108,505,903 (GRCm38)	missense	probably damaging	0.96
R6455:Itpr1	UTSW	6	108,417,972 (GRCm38)	missense	probably damaging	1.00
R6522:Itpr1	UTSW	6	108,388,276 (GRCm38)	missense	probably damaging	1.00
R6524:Itpr1	UTSW	6	108,363,683 (GRCm38)	missense	probably damaging	1.00
R6650:Itpr1	UTSW	6	108,394,073 (GRCm38)	splice site	probably null
R6806:Itpr1	UTSW	6	108,515,947 (GRCm38)	missense	probably benign
R6838:Itpr1	UTSW	6	108,471,191 (GRCm38)	missense	possibly damaging	0.87
R6841:Itpr1	UTSW	6	108,388,192 (GRCm38)	missense	probably damaging	1.00
R6896:Itpr1	UTSW	6	108,481,394 (GRCm38)	missense	probably damaging	1.00
R7014:Itpr1	UTSW	6	108,431,498 (GRCm38)	critical splice donor site	probably null
R7076:Itpr1	UTSW	6	108,388,296 (GRCm38)	missense	probably benign
R7116:Itpr1	UTSW	6	108,481,268 (GRCm38)	missense	probably damaging	0.99
R7152:Itpr1	UTSW	6	108,394,407 (GRCm38)	critical splice donor site	probably null
R7161:Itpr1	UTSW	6	108,386,640 (GRCm38)	missense	probably damaging	1.00
R7166:Itpr1	UTSW	6	108,378,190 (GRCm38)	missense	probably benign	0.06
R7241:Itpr1	UTSW	6	108,517,620 (GRCm38)	critical splice donor site	probably null
R7301:Itpr1	UTSW	6	108,542,024 (GRCm38)	missense	possibly damaging	0.86
R7330:Itpr1	UTSW	6	108,438,331 (GRCm38)	missense	probably benign	0.28
R7449:Itpr1	UTSW	6	108,389,384 (GRCm38)	missense	probably damaging	0.98
R7472:Itpr1	UTSW	6	108,403,396 (GRCm38)	missense	probably benign	0.05
R7502:Itpr1	UTSW	6	108,383,678 (GRCm38)	missense	probably benign	0.00
R7779:Itpr1	UTSW	6	108,523,348 (GRCm38)	missense	possibly damaging	0.75
R7828:Itpr1	UTSW	6	108,482,931 (GRCm38)	missense	probably damaging	1.00
R7854:Itpr1	UTSW	6	108,387,369 (GRCm38)	missense	probably damaging	1.00
R7974:Itpr1	UTSW	6	108,523,405 (GRCm38)	missense	possibly damaging	0.86
R7998:Itpr1	UTSW	6	108,417,948 (GRCm38)	missense	possibly damaging	0.88
R8039:Itpr1	UTSW	6	108,386,628 (GRCm38)	missense	probably damaging	1.00
R8136:Itpr1	UTSW	6	108,438,360 (GRCm38)	missense	probably benign	0.18
R8200:Itpr1	UTSW	6	108,394,865 (GRCm38)	missense	probably benign	0.00
R8242:Itpr1	UTSW	6	108,386,697 (GRCm38)	missense	probably benign	0.44
R8322:Itpr1	UTSW	6	108,388,229 (GRCm38)	missense	probably benign	0.05
R8377:Itpr1	UTSW	6	108,510,738 (GRCm38)	missense	probably benign	0.00
R8412:Itpr1	UTSW	6	108,363,620 (GRCm38)	missense	probably benign	0.07
R8443:Itpr1	UTSW	6	108,519,348 (GRCm38)	missense	probably damaging	0.99
R8669:Itpr1	UTSW	6	108,393,967 (GRCm38)	missense	probably damaging	0.99
R8697:Itpr1	UTSW	6	108,523,366 (GRCm38)	missense	probably damaging	1.00
R8744:Itpr1	UTSW	6	108,377,802 (GRCm38)	missense	possibly damaging	0.79
R8870:Itpr1	UTSW	6	108,388,211 (GRCm38)	missense	probably damaging	1.00
R8921:Itpr1	UTSW	6	108,378,198 (GRCm38)	missense	possibly damaging	0.87
R8961:Itpr1	UTSW	6	108,493,705 (GRCm38)	missense	possibly damaging	0.86
R9095:Itpr1	UTSW	6	108,387,391 (GRCm38)	missense	probably benign	0.02
R9205:Itpr1	UTSW	6	108,489,849 (GRCm38)	missense	probably damaging	0.99
R9282:Itpr1	UTSW	6	108,394,023 (GRCm38)	missense	probably damaging	1.00
R9323:Itpr1	UTSW	6	108,352,018 (GRCm38)	missense	probably damaging	1.00
R9376:Itpr1	UTSW	6	108,349,677 (GRCm38)	missense	probably damaging	0.99
R9392:Itpr1	UTSW	6	108,413,876 (GRCm38)	missense	probably benign
R9428:Itpr1	UTSW	6	108,401,347 (GRCm38)	missense	possibly damaging	0.84
R9621:Itpr1	UTSW	6	108,416,909 (GRCm38)	missense	probably damaging	1.00
R9632:Itpr1	UTSW	6	108,405,520 (GRCm38)	missense	possibly damaging	0.50
R9646:Itpr1	UTSW	6	108,394,884 (GRCm38)	missense	probably damaging	1.00
R9695:Itpr1	UTSW	6	108,401,350 (GRCm38)	missense	probably damaging	1.00
R9710:Itpr1	UTSW	6	108,405,520 (GRCm38)	missense	possibly damaging	0.50
R9721:Itpr1	UTSW	6	108,406,102 (GRCm38)	missense	probably damaging	0.96
R9780:Itpr1	UTSW	6	108,510,834 (GRCm38)	missense	probably benign	0.03
Z1176:Itpr1	UTSW	6	108,499,149 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCTGACCCTTACTCTGGCATAC -3'
(R):5'- ACCACAGTCGGGCATATTTCACAG -3'

Sequencing Primer
(F):5'- GACCCTTACTCTGGCATACTATAAAC -3'
(R):5'- GGCATATTTCACAGGTGTCAC -3'

Posted On

2014-03-14