Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Itpr1'

551765

Institutional Source

Beutler Lab

Gene Symbol

Itpr1

Ensembl Gene

ENSMUSG00000030102

Gene Name

inositol 1,4,5-trisphosphate receptor 1

Synonyms

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

MMRRC Submission

045207-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108190057-108528070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108458229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 2000 (C2000R)

Ref Sequence

ENSEMBL: ENSMUSP00000032192 (fasta)

Gene Model

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

AlphaFold

no structure available at present

PDB Structure

Crystal structure of the inositol 1,4,5-trisphosphate receptor binding core in complex with IP3 [X-RAY DIFFRACTION]
Crystal structure of the ligand binding suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032192
AA Change: C2000R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: C2000R

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 damaging
Transcript: ENSMUST00000203615
AA Change: C1999R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: C1999R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,251,751 (GRCm39)	S109P	probably damaging	Het
Afg3l1	T	G	8: 124,216,601 (GRCm39)	L280R	probably damaging	Het
Akap13	T	A	7: 75,369,943 (GRCm39)	S129T	probably benign	Het
Ankrd11	A	G	8: 123,622,869 (GRCm39)	S328P	probably damaging	Het
Aox3	A	T	1: 58,192,689 (GRCm39)	E554D	probably benign	Het
Bcl11a	T	C	11: 24,113,839 (GRCm39)	V394A	probably damaging	Het
Cass4	A	G	2: 172,269,889 (GRCm39)	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,454,051 (GRCm39)	A1738V	probably benign	Het
Cfap74	T	C	4: 155,539,518 (GRCm39)	F948L	unknown	Het
Chgb	A	T	2: 132,623,237 (GRCm39)		probably benign	Het
Coro1c	C	T	5: 113,990,267 (GRCm39)	W138*	probably null	Het
Dgkb	A	G	12: 38,031,989 (GRCm39)	Q17R	probably benign	Het
Esco2	A	G	14: 66,064,006 (GRCm39)	Y393H	probably damaging	Het
Eya3	T	A	4: 132,422,110 (GRCm39)	D228E	probably benign	Het
Fat2	T	C	11: 55,173,162 (GRCm39)	D2517G	probably damaging	Het
Fry	T	A	5: 150,319,334 (GRCm39)		probably null	Het
Gal3st2b	A	T	1: 93,868,498 (GRCm39)	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,654,989 (GRCm39)	A192V	probably benign	Het
Glg1	T	A	8: 111,905,589 (GRCm39)	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,502,601 (GRCm39)	Y188*	probably null	Het
Hira	T	C	16: 18,730,864 (GRCm39)	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,257,814 (GRCm39)	D76N	probably benign	Het
Irf6	T	C	1: 192,849,905 (GRCm39)	F276L	probably damaging	Het
Jakmip3	T	C	7: 138,621,979 (GRCm39)	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,707,614 (GRCm39)	V132A	probably benign	Het
Kcnj1	A	G	9: 32,308,277 (GRCm39)	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,605,635 (GRCm39)	N470I	probably benign	Het
Lamb2	T	C	9: 108,364,522 (GRCm39)	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,527,911 (GRCm39)	D232G	probably benign	Het
Lpxn	T	A	19: 12,788,622 (GRCm39)	N70K	probably benign	Het
Ltbp4	T	A	7: 27,004,852 (GRCm39)	H1657L	probably damaging	Het
Luzp2	C	A	7: 54,915,078 (GRCm39)	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,835,785 (GRCm39)	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,568,517 (GRCm39)	T396I	probably benign	Het
Muc5b	T	C	7: 141,417,487 (GRCm39)	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,349,269 (GRCm39)	M626K	probably benign	Het
Nlrp14	A	G	7: 106,782,255 (GRCm39)	D484G	possibly damaging	Het
Npc1	T	C	18: 12,344,601 (GRCm39)	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,437,388 (GRCm39)	I180T	probably damaging	Het
Or11g25	A	T	14: 50,723,025 (GRCm39)	I37F	probably benign	Het
Or51a8	T	A	7: 102,549,842 (GRCm39)	N89K	probably benign	Het
Osbpl6	A	T	2: 76,426,225 (GRCm39)	I935F	probably benign	Het
Otog	T	C	7: 45,947,689 (GRCm39)	F96L	probably damaging	Het
Pde1b	T	C	15: 103,436,745 (GRCm39)	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,288,125 (GRCm39)	E1092K	probably damaging	Het
Pfkl	T	C	10: 77,837,249 (GRCm39)	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,421,372 (GRCm39)	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812 (GRCm39)	C126*	probably null	Het
Pphln1	T	A	15: 93,353,406 (GRCm39)	S229T	probably benign	Het
Pramel5	C	T	4: 144,000,451 (GRCm39)	D42N	possibly damaging	Het
Psd3	A	G	8: 68,166,390 (GRCm39)	V915A	probably benign	Het
Ptdss1	T	A	13: 67,093,391 (GRCm39)	I77N	probably benign	Het
Rsbn1	T	A	3: 103,821,892 (GRCm39)	C3*	probably null	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sv2c	A	T	13: 96,113,152 (GRCm39)	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,220,898 (GRCm39)	T322A	probably benign	Het
Vmn2r60	T	A	7: 41,786,487 (GRCm39)	M430K	probably benign	Het
Wipf3	T	A	6: 54,458,904 (GRCm39)		probably null	Het

Other mutations in Itpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Itpr1	APN	6	108,448,081 (GRCm39)	missense	probably damaging	0.98
IGL01073:Itpr1	APN	6	108,390,781 (GRCm39)	missense	probably benign	0.00
IGL01105:Itpr1	APN	6	108,358,294 (GRCm39)	missense	probably benign	0.00
IGL01296:Itpr1	APN	6	108,376,322 (GRCm39)	missense	probably damaging	1.00
IGL01325:Itpr1	APN	6	108,358,169 (GRCm39)	missense	probably benign	0.01
IGL01418:Itpr1	APN	6	108,316,585 (GRCm39)	critical splice donor site	probably null
IGL01464:Itpr1	APN	6	108,363,688 (GRCm39)	missense	possibly damaging	0.95
IGL01467:Itpr1	APN	6	108,465,457 (GRCm39)	missense	probably damaging	0.96
IGL01645:Itpr1	APN	6	108,450,560 (GRCm39)	missense	possibly damaging	0.91
IGL01672:Itpr1	APN	6	108,357,993 (GRCm39)	nonsense	probably null
IGL01969:Itpr1	APN	6	108,354,652 (GRCm39)	missense	probably damaging	1.00
IGL02164:Itpr1	APN	6	108,366,444 (GRCm39)	missense	probably benign	0.08
IGL02206:Itpr1	APN	6	108,526,781 (GRCm39)	missense	probably damaging	1.00
IGL02232:Itpr1	APN	6	108,394,884 (GRCm39)	missense	probably damaging	1.00
IGL02297:Itpr1	APN	6	108,316,478 (GRCm39)	missense	possibly damaging	0.84
IGL02434:Itpr1	APN	6	108,466,883 (GRCm39)	splice site	probably null
IGL02568:Itpr1	APN	6	108,316,515 (GRCm39)	missense	possibly damaging	0.82
IGL02992:Itpr1	APN	6	108,358,276 (GRCm39)	missense	probably damaging	1.00
IGL03109:Itpr1	APN	6	108,394,942 (GRCm39)	missense	probably damaging	1.00
IGL03130:Itpr1	APN	6	108,500,362 (GRCm39)	missense	probably benign	0.00
IGL03333:Itpr1	APN	6	108,357,871 (GRCm39)	unclassified	probably benign
aboriginal	UTSW	6	108,492,908 (GRCm39)	missense	probably benign
approximation	UTSW	6	108,371,802 (GRCm39)	missense	probably benign
estimate	UTSW	6	108,366,514 (GRCm39)	missense	probably null	1.00
icarus	UTSW	6	108,387,861 (GRCm39)	missense	probably damaging	1.00
marsupialized	UTSW	6	108,371,034 (GRCm39)	splice site	probably null
primordial	UTSW	6	108,495,716 (GRCm39)	missense	probably benign	0.06
roo	UTSW	6	108,387,828 (GRCm39)	missense	probably benign	0.00
wallaby	UTSW	6	108,366,348 (GRCm39)	missense	probably damaging	1.00
P0005:Itpr1	UTSW	6	108,358,218 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Itpr1	UTSW	6	108,470,718 (GRCm39)	nonsense	probably null
R0019:Itpr1	UTSW	6	108,331,587 (GRCm39)	missense	probably damaging	1.00
R0128:Itpr1	UTSW	6	108,448,170 (GRCm39)	splice site	probably benign
R0129:Itpr1	UTSW	6	108,326,637 (GRCm39)	missense	probably damaging	1.00
R0135:Itpr1	UTSW	6	108,465,443 (GRCm39)	splice site	probably benign
R0244:Itpr1	UTSW	6	108,450,550 (GRCm39)	missense	probably benign	0.00
R0391:Itpr1	UTSW	6	108,355,128 (GRCm39)	missense	probably benign	0.22
R0543:Itpr1	UTSW	6	108,492,709 (GRCm39)	splice site	probably benign
R0647:Itpr1	UTSW	6	108,360,659 (GRCm39)	missense	probably damaging	1.00
R0766:Itpr1	UTSW	6	108,387,861 (GRCm39)	missense	probably damaging	1.00
R0971:Itpr1	UTSW	6	108,326,590 (GRCm39)	missense	possibly damaging	0.70
R1083:Itpr1	UTSW	6	108,487,657 (GRCm39)	missense	possibly damaging	0.92
R1277:Itpr1	UTSW	6	108,316,582 (GRCm39)	missense	probably benign	0.22
R1403:Itpr1	UTSW	6	108,366,514 (GRCm39)	missense	probably null	1.00
R1403:Itpr1	UTSW	6	108,366,514 (GRCm39)	missense	probably null	1.00
R1404:Itpr1	UTSW	6	108,363,609 (GRCm39)	missense	probably benign	0.04
R1404:Itpr1	UTSW	6	108,363,609 (GRCm39)	missense	probably benign	0.04
R1605:Itpr1	UTSW	6	108,326,620 (GRCm39)	missense	possibly damaging	0.77
R1661:Itpr1	UTSW	6	108,459,858 (GRCm39)	missense	probably benign	0.38
R1852:Itpr1	UTSW	6	108,363,667 (GRCm39)	missense	probably damaging	1.00
R1929:Itpr1	UTSW	6	108,470,716 (GRCm39)	missense	probably damaging	1.00
R2012:Itpr1	UTSW	6	108,417,497 (GRCm39)	missense	probably benign	0.02
R2027:Itpr1	UTSW	6	108,363,814 (GRCm39)	missense	possibly damaging	0.80
R2111:Itpr1	UTSW	6	108,355,270 (GRCm39)	unclassified	probably benign
R2166:Itpr1	UTSW	6	108,365,186 (GRCm39)	missense	probably damaging	1.00
R2272:Itpr1	UTSW	6	108,470,716 (GRCm39)	missense	probably damaging	1.00
R2484:Itpr1	UTSW	6	108,346,071 (GRCm39)	missense	probably damaging	1.00
R3115:Itpr1	UTSW	6	108,383,070 (GRCm39)	missense	possibly damaging	0.55
R3751:Itpr1	UTSW	6	108,326,641 (GRCm39)	missense	probably damaging	1.00
R3798:Itpr1	UTSW	6	108,358,231 (GRCm39)	missense	probably damaging	1.00
R3930:Itpr1	UTSW	6	108,371,802 (GRCm39)	missense	probably benign
R4081:Itpr1	UTSW	6	108,368,796 (GRCm39)	missense	probably damaging	1.00
R4119:Itpr1	UTSW	6	108,371,316 (GRCm39)	missense	probably benign
R4406:Itpr1	UTSW	6	108,331,624 (GRCm39)	missense	probably damaging	1.00
R4506:Itpr1	UTSW	6	108,409,647 (GRCm39)	missense	probably damaging	1.00
R4616:Itpr1	UTSW	6	108,458,184 (GRCm39)	missense	probably damaging	1.00
R4655:Itpr1	UTSW	6	108,458,254 (GRCm39)	missense	probably damaging	1.00
R4661:Itpr1	UTSW	6	108,387,892 (GRCm39)	critical splice donor site	probably null
R4760:Itpr1	UTSW	6	108,326,593 (GRCm39)	missense	probably benign	0.29
R4836:Itpr1	UTSW	6	108,366,498 (GRCm39)	missense	probably damaging	0.99
R4857:Itpr1	UTSW	6	108,387,828 (GRCm39)	missense	probably benign	0.00
R4876:Itpr1	UTSW	6	108,459,867 (GRCm39)	missense	probably damaging	0.97
R4939:Itpr1	UTSW	6	108,417,519 (GRCm39)	nonsense	probably null
R5076:Itpr1	UTSW	6	108,382,490 (GRCm39)	splice site	probably null
R5088:Itpr1	UTSW	6	108,366,348 (GRCm39)	missense	probably damaging	1.00
R5248:Itpr1	UTSW	6	108,519,023 (GRCm39)	missense	probably damaging	1.00
R5290:Itpr1	UTSW	6	108,383,106 (GRCm39)	missense	possibly damaging	0.95
R5308:Itpr1	UTSW	6	108,333,472 (GRCm39)	missense	probably damaging	1.00
R5339:Itpr1	UTSW	6	108,370,922 (GRCm39)	missense	probably damaging	1.00
R5368:Itpr1	UTSW	6	108,364,459 (GRCm39)	missense	probably damaging	1.00
R5369:Itpr1	UTSW	6	108,496,385 (GRCm39)	missense	probably damaging	0.99
R5419:Itpr1	UTSW	6	108,470,755 (GRCm39)	missense	possibly damaging	0.95
R5615:Itpr1	UTSW	6	108,465,561 (GRCm39)	missense	possibly damaging	0.71
R5779:Itpr1	UTSW	6	108,329,104 (GRCm39)	missense	probably damaging	1.00
R5781:Itpr1	UTSW	6	108,487,699 (GRCm39)	missense	probably benign	0.23
R5869:Itpr1	UTSW	6	108,450,490 (GRCm39)	missense	probably benign	0.30
R5903:Itpr1	UTSW	6	108,466,758 (GRCm39)	intron	probably benign
R5929:Itpr1	UTSW	6	108,400,297 (GRCm39)	missense	probably benign
R5956:Itpr1	UTSW	6	108,482,988 (GRCm39)	missense	probably benign	0.25
R6160:Itpr1	UTSW	6	108,495,716 (GRCm39)	missense	probably benign	0.06
R6163:Itpr1	UTSW	6	108,365,245 (GRCm39)	missense	probably damaging	1.00
R6169:Itpr1	UTSW	6	108,346,077 (GRCm39)	missense	probably damaging	1.00
R6237:Itpr1	UTSW	6	108,355,164 (GRCm39)	missense	possibly damaging	0.53
R6398:Itpr1	UTSW	6	108,482,864 (GRCm39)	missense	probably damaging	0.96
R6455:Itpr1	UTSW	6	108,394,933 (GRCm39)	missense	probably damaging	1.00
R6522:Itpr1	UTSW	6	108,365,237 (GRCm39)	missense	probably damaging	1.00
R6524:Itpr1	UTSW	6	108,340,644 (GRCm39)	missense	probably damaging	1.00
R6650:Itpr1	UTSW	6	108,371,034 (GRCm39)	splice site	probably null
R6806:Itpr1	UTSW	6	108,492,908 (GRCm39)	missense	probably benign
R6838:Itpr1	UTSW	6	108,448,152 (GRCm39)	missense	possibly damaging	0.87
R6841:Itpr1	UTSW	6	108,365,153 (GRCm39)	missense	probably damaging	1.00
R6896:Itpr1	UTSW	6	108,458,355 (GRCm39)	missense	probably damaging	1.00
R7014:Itpr1	UTSW	6	108,408,459 (GRCm39)	critical splice donor site	probably null
R7076:Itpr1	UTSW	6	108,365,257 (GRCm39)	missense	probably benign
R7152:Itpr1	UTSW	6	108,371,368 (GRCm39)	critical splice donor site	probably null
R7161:Itpr1	UTSW	6	108,363,601 (GRCm39)	missense	probably damaging	1.00
R7166:Itpr1	UTSW	6	108,355,151 (GRCm39)	missense	probably benign	0.06
R7241:Itpr1	UTSW	6	108,494,581 (GRCm39)	critical splice donor site	probably null
R7301:Itpr1	UTSW	6	108,518,985 (GRCm39)	missense	possibly damaging	0.86
R7330:Itpr1	UTSW	6	108,415,292 (GRCm39)	missense	probably benign	0.28
R7449:Itpr1	UTSW	6	108,366,345 (GRCm39)	missense	probably damaging	0.98
R7472:Itpr1	UTSW	6	108,380,357 (GRCm39)	missense	probably benign	0.05
R7502:Itpr1	UTSW	6	108,360,639 (GRCm39)	missense	probably benign	0.00
R7779:Itpr1	UTSW	6	108,500,309 (GRCm39)	missense	possibly damaging	0.75
R7828:Itpr1	UTSW	6	108,459,892 (GRCm39)	missense	probably damaging	1.00
R7854:Itpr1	UTSW	6	108,364,330 (GRCm39)	missense	probably damaging	1.00
R7974:Itpr1	UTSW	6	108,500,366 (GRCm39)	missense	possibly damaging	0.86
R7998:Itpr1	UTSW	6	108,394,909 (GRCm39)	missense	possibly damaging	0.88
R8039:Itpr1	UTSW	6	108,363,589 (GRCm39)	missense	probably damaging	1.00
R8136:Itpr1	UTSW	6	108,415,321 (GRCm39)	missense	probably benign	0.18
R8200:Itpr1	UTSW	6	108,371,826 (GRCm39)	missense	probably benign	0.00
R8242:Itpr1	UTSW	6	108,363,658 (GRCm39)	missense	probably benign	0.44
R8322:Itpr1	UTSW	6	108,365,190 (GRCm39)	missense	probably benign	0.05
R8377:Itpr1	UTSW	6	108,487,699 (GRCm39)	missense	probably benign	0.00
R8412:Itpr1	UTSW	6	108,340,581 (GRCm39)	missense	probably benign	0.07
R8443:Itpr1	UTSW	6	108,496,309 (GRCm39)	missense	probably damaging	0.99
R8669:Itpr1	UTSW	6	108,370,928 (GRCm39)	missense	probably damaging	0.99
R8697:Itpr1	UTSW	6	108,500,327 (GRCm39)	missense	probably damaging	1.00
R8744:Itpr1	UTSW	6	108,354,763 (GRCm39)	missense	possibly damaging	0.79
R8870:Itpr1	UTSW	6	108,365,172 (GRCm39)	missense	probably damaging	1.00
R8921:Itpr1	UTSW	6	108,355,159 (GRCm39)	missense	possibly damaging	0.87
R8961:Itpr1	UTSW	6	108,470,666 (GRCm39)	missense	possibly damaging	0.86
R9095:Itpr1	UTSW	6	108,364,352 (GRCm39)	missense	probably benign	0.02
R9205:Itpr1	UTSW	6	108,466,810 (GRCm39)	missense	probably damaging	0.99
R9282:Itpr1	UTSW	6	108,370,984 (GRCm39)	missense	probably damaging	1.00
R9323:Itpr1	UTSW	6	108,328,979 (GRCm39)	missense	probably damaging	1.00
R9376:Itpr1	UTSW	6	108,326,638 (GRCm39)	missense	probably damaging	0.99
R9392:Itpr1	UTSW	6	108,390,837 (GRCm39)	missense	probably benign
R9428:Itpr1	UTSW	6	108,378,308 (GRCm39)	missense	possibly damaging	0.84
R9621:Itpr1	UTSW	6	108,393,870 (GRCm39)	missense	probably damaging	1.00
R9632:Itpr1	UTSW	6	108,382,481 (GRCm39)	missense	possibly damaging	0.50
R9646:Itpr1	UTSW	6	108,371,845 (GRCm39)	missense	probably damaging	1.00
R9695:Itpr1	UTSW	6	108,378,311 (GRCm39)	missense	probably damaging	1.00
R9710:Itpr1	UTSW	6	108,382,481 (GRCm39)	missense	possibly damaging	0.50
R9721:Itpr1	UTSW	6	108,383,063 (GRCm39)	missense	probably damaging	0.96
R9780:Itpr1	UTSW	6	108,487,795 (GRCm39)	missense	probably benign	0.03
Z1176:Itpr1	UTSW	6	108,476,110 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTTGACAATCCCTGGGC -3'
(R):5'- CCCAGAGTATAAACAGAATTACCTGG -3'

Sequencing Primer
(F):5'- CTGGGCCATGAAGACTCTTCTAG -3'
(R):5'- ACCTGGTTCTCATGGCAAG -3'

Posted On

2019-05-15