Mutagenetix > Incidental Mutation

Incidental Mutation 'R7241:Itpr1'

563196

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

045348-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108190057-108528070 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 108494581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032192 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102

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 null
Transcript: ENSMUST00000032192

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102

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 null
Transcript: ENSMUST00000203615

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102

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

probably null
Transcript: ENSMUST00000203615

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,184 (GRCm39)	T612A	probably damaging	Het
Acacb	G	A	5: 114,383,161 (GRCm39)	A2115T	possibly damaging	Het
Adam32	T	C	8: 25,388,510 (GRCm39)	K398R	probably benign	Het
Adam9	T	A	8: 25,441,002 (GRCm39)	I824F	possibly damaging	Het
Ahnak	A	G	19: 8,986,395 (GRCm39)	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,542,644 (GRCm39)	M1I	probably null	Het
Anks1b	T	G	10: 90,348,699 (GRCm39)	I789S	probably damaging	Het
Ap2b1	T	A	11: 83,241,931 (GRCm39)	N641K	probably benign	Het
Arhgap33	A	G	7: 30,228,146 (GRCm39)	L412P	probably damaging	Het
Atp13a3	T	A	16: 30,171,095 (GRCm39)	M317L	possibly damaging	Het
B4galt5	A	G	2: 167,148,617 (GRCm39)	L167P	probably damaging	Het
Bace2	T	C	16: 97,237,998 (GRCm39)	I483T	possibly damaging	Het
C2cd3	A	C	7: 100,056,257 (GRCm39)	K177T		Het
Ccr4	T	C	9: 114,322,024 (GRCm39)	T14A	probably benign	Het
Cep250	A	T	2: 155,833,472 (GRCm39)	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,632,052 (GRCm39)	Q433R	probably benign	Het
Copb1	C	T	7: 113,836,591 (GRCm39)	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,079,012 (GRCm39)	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,459,499 (GRCm39)	I78V	probably benign	Het
Cyth4	A	G	15: 78,491,245 (GRCm39)	K108R	probably benign	Het
Dnah1	T	C	14: 30,986,896 (GRCm39)	H3632R	probably benign	Het
Dnah3	T	C	7: 119,542,856 (GRCm39)	I540V	probably benign	Het
Dock4	A	G	12: 40,844,859 (GRCm39)	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,477,879 (GRCm39)	T291A	probably damaging	Het
Eeig1	A	G	2: 32,448,076 (GRCm39)	R62G	probably benign	Het
Fbn1	T	C	2: 125,148,415 (GRCm39)	N2611S	possibly damaging	Het
Fcsk	A	G	8: 111,622,529 (GRCm39)	I133T	probably benign	Het
Fhod3	A	G	18: 25,193,409 (GRCm39)	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,852,013 (GRCm39)	D522E	probably benign	Het
Ganc	T	A	2: 120,272,010 (GRCm39)	I556K	probably damaging	Het
Gjc2	T	A	11: 59,067,960 (GRCm39)	E174V	unknown	Het
Gzmd	G	A	14: 56,368,799 (GRCm39)	R32C	probably damaging	Het
Hltf	T	A	3: 20,119,556 (GRCm39)	H200Q	probably benign	Het
Ift88	A	G	14: 57,717,454 (GRCm39)	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,350,322 (GRCm39)	C115F	probably damaging	Het
Impdh2	A	G	9: 108,440,636 (GRCm39)	N279S	possibly damaging	Het
Kansl1l	T	C	1: 66,840,787 (GRCm39)	N171S	possibly damaging	Het
Kif14	T	A	1: 136,396,491 (GRCm39)	C266S	probably benign	Het
Kif19b	A	G	5: 140,447,943 (GRCm39)	T137A	probably damaging	Het
Lrriq1	A	C	10: 103,051,834 (GRCm39)	V306G	probably damaging	Het
Mast4	G	A	13: 103,470,508 (GRCm39)	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,223,091 (GRCm39)	D55G		Het
Mrps27	A	T	13: 99,547,788 (GRCm39)	K233*	probably null	Het
Myo1f	A	G	17: 33,798,902 (GRCm39)	N189S	probably damaging	Het
Nbn	A	T	4: 15,991,190 (GRCm39)	K729N	probably benign	Het
Or1e35	T	C	11: 73,798,058 (GRCm39)	S87G	probably benign	Het
Or8k35	C	A	2: 86,424,498 (GRCm39)	V225F	possibly damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Plaat5	A	G	19: 7,591,946 (GRCm39)	T121A	probably benign	Het
Polr1e	A	C	4: 45,029,340 (GRCm39)	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,299,874 (GRCm39)	V595A		Het
Prdm15	T	C	16: 97,596,941 (GRCm39)	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,353,516 (GRCm39)	M460K	probably benign	Het
Prkd2	G	T	7: 16,591,730 (GRCm39)	R587L	probably benign	Het
Prkn	C	A	17: 12,073,748 (GRCm39)	N355K	possibly damaging	Het
Rabep1	C	A	11: 70,830,815 (GRCm39)	T829N	probably damaging	Het
Rptn	A	G	3: 93,303,261 (GRCm39)	E198G	probably benign	Het
Ryr2	A	T	13: 11,680,799 (GRCm39)	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 120,960,708 (GRCm39)	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,621,346 (GRCm39)	S243G	probably benign	Het
Spata31h1	T	C	10: 82,122,876 (GRCm39)	E3378G	probably benign	Het
Taf2	T	A	15: 54,925,537 (GRCm39)	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,306,493 (GRCm39)	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,416,468 (GRCm39)	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,066,295 (GRCm39)	T139K	probably damaging	Het
Timm10	T	A	2: 84,660,333 (GRCm39)	*91R	probably null	Het
Tlr11	T	A	14: 50,599,598 (GRCm39)	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,779,444 (GRCm39)	L278Q	probably damaging	Het
Toe1	A	T	4: 116,664,715 (GRCm39)	M1K	probably null	Het
Trpv5	G	A	6: 41,652,242 (GRCm39)	R148*	probably null	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Ttn	A	G	2: 76,783,550 (GRCm39)	V860A	unknown	Het
Txnip	T	C	3: 96,466,991 (GRCm39)	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,170,725 (GRCm39)	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,622,193 (GRCm39)	Y364H	probably damaging	Het
Unc5a	A	T	13: 55,138,833 (GRCm39)	T71S	probably damaging	Het
Vmn1r123	A	T	7: 20,896,537 (GRCm39)	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,651,891 (GRCm39)	I18N	probably damaging	Het
Washc2	A	G	6: 116,185,168 (GRCm39)	M1V	probably null	Het
Zfp174	C	A	16: 3,666,111 (GRCm39)	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,131,943 (GRCm39)	H227R	possibly damaging	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
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'- AGCCGTGAACTAGGGACTTC -3'
(R):5'- ACAGAGGGCACTCAAATATTGGC -3'

Sequencing Primer
(F):5'- CAAACATTTTAACCATATGCTGCCAG -3'
(R):5'- ATATTGGCTGCCTCAAGTCAGTAGC -3'

Posted On

2019-06-26