Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Itpr1'

650772

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

046017-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.699) question?

Stock #

R7974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108190057-108528070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108500366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2653 (T2653I)

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

possibly damaging
Transcript: ENSMUST00000032192
AA Change: T2653I

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: T2653I

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: T2652I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: T2652I

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,033,405 (GRCm39)		probably null	Het
Adamts19	A	T	18: 59,144,094 (GRCm39)	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,886,668 (GRCm39)		probably null	Het
Aftph	T	C	11: 20,648,233 (GRCm39)	*686W	probably null	Het
AI661453	T	C	17: 47,777,006 (GRCm39)	L244P	unknown	Het
Ankar	C	A	1: 72,738,138 (GRCm39)	E15*	probably null	Het
Ankrd39	A	G	1: 36,585,999 (GRCm39)		probably benign	Het
Arsi	A	G	18: 61,045,478 (GRCm39)	D56G	probably damaging	Het
Blmh	T	C	11: 76,856,729 (GRCm39)	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,475,056 (GRCm39)	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,968,523 (GRCm39)	K61E	probably damaging	Het
Celsr1	C	T	15: 85,915,231 (GRCm39)	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,764 (GRCm39)	K86N	probably benign	Het
Cfap70	A	T	14: 20,470,818 (GRCm39)	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,358,006 (GRCm39)	L506Q	probably damaging	Het
Dct	A	C	14: 118,277,067 (GRCm39)	I273S	probably damaging	Het
Dsel	T	C	1: 111,788,229 (GRCm39)	I769V	probably benign	Het
Dus2	G	A	8: 106,762,652 (GRCm39)	E138K	probably benign	Het
Emsy	A	G	7: 98,279,425 (GRCm39)	S305P	possibly damaging	Het
Erp27	A	T	6: 136,885,063 (GRCm39)	V245D	probably damaging	Het
Fez1	C	A	9: 36,755,244 (GRCm39)	T81K	probably damaging	Het
Gli3	A	C	13: 15,900,841 (GRCm39)	Q1409H	probably benign	Het
Hdac9	T	C	12: 34,353,219 (GRCm39)	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,534,880 (GRCm39)	S167P	probably benign	Het
Hsdl1	A	G	8: 120,293,072 (GRCm39)	V121A	probably benign	Het
Ift70a1	T	C	2: 75,810,688 (GRCm39)	H465R	probably damaging	Het
Ighv1-18	A	C	12: 114,646,669 (GRCm39)	I6S	possibly damaging	Het
Iqcm	T	A	8: 76,281,520 (GRCm39)	M1K	probably null	Het
Itch	T	C	2: 155,034,079 (GRCm39)	F417S	probably damaging	Het
Kank1	T	G	19: 25,401,584 (GRCm39)	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,505,561 (GRCm39)	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,765,385 (GRCm39)	C318R	probably damaging	Het
Lmbr1l	C	T	15: 98,809,500 (GRCm39)	V147I	probably benign	Het
Meig1	C	A	2: 3,412,911 (GRCm39)	E37*	probably null	Het
Mpp3	A	G	11: 101,899,180 (GRCm39)		probably null	Het
Muc17	T	C	5: 137,175,664 (GRCm39)	N2S		Het
Mup7	T	C	4: 60,067,518 (GRCm39)	E199G	possibly damaging	Het
Nol4	G	C	18: 22,852,082 (GRCm39)	Y275*	probably null	Het
Nrxn1	G	A	17: 91,008,207 (GRCm39)	P429S	probably damaging	Het
Or14j8	T	C	17: 38,263,672 (GRCm39)	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,829,996 (GRCm39)	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,254,031 (GRCm39)	E652G	probably benign	Het
Prkag3	A	G	1: 74,783,980 (GRCm39)	I301T	probably benign	Het
Rcn1	G	A	2: 105,224,055 (GRCm39)	P163L	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc37a2	A	T	9: 37,150,421 (GRCm39)		probably null	Het
Slc9b1	C	T	3: 135,099,791 (GRCm39)	T437I	possibly damaging	Het
Smap1	T	G	1: 23,888,522 (GRCm39)	T248P	probably benign	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata20	T	C	11: 94,374,966 (GRCm39)	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,256,683 (GRCm39)	C355W	probably damaging	Het
Spopfm2	T	C	3: 94,082,848 (GRCm39)	K321R	probably benign	Het
Spsb1	T	A	4: 149,991,566 (GRCm39)	M1L	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,646,439 (GRCm39)		probably null	Het
Taar5	G	C	10: 23,847,120 (GRCm39)	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,440,101 (GRCm39)	D438G	probably null	Het
Tinag	A	T	9: 76,907,131 (GRCm39)	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,873,906 (GRCm39)	W531R	probably damaging	Het
Tnc	G	T	4: 63,918,961 (GRCm39)	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645 (GRCm39)	R513G	probably damaging	Het
Vat1	A	G	11: 101,356,956 (GRCm39)	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,577,270 (GRCm39)	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,024,808 (GRCm39)	E591V	probably damaging	Het
Vmn2r62	T	A	7: 42,437,281 (GRCm39)	Y401F	probably damaging	Het
Vmn2r62	G	A	7: 42,414,031 (GRCm39)	T804I	probably damaging	Het
Vmn2r89	A	T	14: 51,693,459 (GRCm39)	I270F	probably damaging	Het
Zfp418	T	C	7: 7,185,167 (GRCm39)	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,144,502 (GRCm39)	S182P	unknown	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
R7116:Itpr1	UTSW	6	108,458,229 (GRCm39)	missense	probably damaging	0.99
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
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'- GGGTTTGAAGGCCAAAAGACTC -3'
(R):5'- TGCACAGAGTACTGAGGTCTC -3'

Sequencing Primer
(F):5'- GACAACAAGCTATGCTGACTTTGC -3'
(R):5'- AGGTCTCAGTCCATAGGTTTTTG -3'

Posted On

2020-09-15