Mutagenetix > Incidental Mutation

Incidental Mutation 'R9632:Itpr1'

725570

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R9632 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108213096-108551109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108405520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1458 (C1458R)

Ref Sequence

ENSEMBL: ENSMUSP00000032192 (fasta)

Gene Model

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

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: C1458R

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: C1458R

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: C1458R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: C1458R

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 benign
Transcript: ENSMUST00000212125

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,498,246 (GRCm38)	I570T	probably damaging	Het
Adamtsl4	G	A	3: 95,681,780 (GRCm38)	T447I	probably damaging	Het
Ahcyl1	T	A	3: 107,671,178 (GRCm38)	I248F	possibly damaging	Het
Arhgef2	T	C	3: 88,621,269 (GRCm38)	I4T	probably benign	Het
Bin2	T	C	15: 100,652,034 (GRCm38)	D176G	possibly damaging	Het
Bptf	T	A	11: 107,061,719 (GRCm38)	T2166S	probably damaging	Het
Cachd1	T	A	4: 100,974,895 (GRCm38)	N751K	probably benign	Het
Castor1	A	G	11: 4,219,015 (GRCm38)	K61E	probably benign	Het
CN725425	A	T	15: 91,242,648 (GRCm38)	T214S	possibly damaging	Het
Crtam	A	T	9: 40,984,375 (GRCm38)	D218E	probably benign	Het
Ctsj	C	T	13: 61,004,014 (GRCm38)	M76I	probably benign	Het
Cuedc1	C	A	11: 88,170,129 (GRCm38)	S99R	possibly damaging	Het
Cyp4a14	T	A	4: 115,492,150 (GRCm38)	I238F	probably benign	Het
Dnajb11	A	T	16: 22,862,594 (GRCm38)	I41F	probably damaging	Het
Drd3	A	G	16: 43,822,772 (GRCm38)	N425S	probably damaging	Het
Eci1	G	C	17: 24,426,885 (GRCm38)	G25R	probably damaging	Het
Etl4	A	T	2: 20,661,938 (GRCm38)	N52I	probably benign	Het
Fbxo34	T	C	14: 47,531,267 (GRCm38)	Y746H	probably damaging	Het
Fcgbpl1	A	G	7: 28,142,301 (GRCm38)	I554V	probably benign	Het
Fndc1	T	C	17: 7,772,790 (GRCm38)	I691M	unknown	Het
Fut8	A	G	12: 77,393,733 (GRCm38)	T165A	probably benign	Het
Galr1	A	T	18: 82,405,978 (GRCm38)	L58Q	probably damaging	Het
Glt28d2	T	C	3: 85,871,752 (GRCm38)	D138G	probably benign	Het
Gm11595	A	T	11: 99,772,271 (GRCm38)	C194*	probably null	Het
Gm14403	T	A	2: 177,509,628 (GRCm38)	N213K	probably benign	Het
Gmpr	T	C	13: 45,546,043 (GRCm38)	V343A	probably benign	Het
Hacd1	T	C	2: 14,035,867 (GRCm38)	N152D	possibly damaging	Het
Hcn1	A	G	13: 117,873,986 (GRCm38)	S367G	probably benign	Het
Impg1	A	G	9: 80,379,994 (GRCm38)	V390A	probably benign	Het
Kif16b	A	T	2: 142,712,040 (GRCm38)	V946E	probably benign	Het
Krt71	T	C	15: 101,736,553 (GRCm38)	E441G	probably damaging	Het
Lhcgr	A	G	17: 88,742,104 (GRCm38)	F665L	probably benign	Het
Lrrc37	T	A	11: 103,542,426 (GRCm38)	S3306C	unknown	Het
Lzic	T	A	4: 149,488,684 (GRCm38)	F98I	probably damaging	Het
Map3k8	A	T	18: 4,339,546 (GRCm38)	V275D	probably damaging	Het
Marchf8	C	T	6: 116,401,444 (GRCm38)	T113I	possibly damaging	Het
Mmp15	A	G	8: 95,372,103 (GRCm38)		probably null	Het
Mpst	A	G	15: 78,410,269 (GRCm38)	D67G	probably damaging	Het
Nanog	T	C	6: 122,707,840 (GRCm38)	S20P	probably benign	Het
Ndufc2	T	C	7: 97,406,895 (GRCm38)	S67P	probably damaging	Het
Nrg1	T	C	8: 31,917,593 (GRCm38)	K204R	possibly damaging	Het
Nsf	T	A	11: 103,823,768 (GRCm38)	K728N	probably damaging	Het
Nutm2	C	A	13: 50,474,865 (GRCm38)	P655H	probably benign	Het
Obscn	G	A	11: 59,052,571 (GRCm38)	R4251C	probably benign	Het
Or10g9	A	T	9: 40,000,876 (GRCm38)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,736,742 (GRCm38)	C140Y	probably benign	Het
Or4a15	T	C	2: 89,362,721 (GRCm38)	Y236C	probably damaging	Het
Or4c102	A	T	2: 88,592,713 (GRCm38)	Q303L	probably benign	Het
Or4c120	T	C	2: 89,171,408 (GRCm38)		probably benign	Het
Or56a5	T	A	7: 105,143,958 (GRCm38)	T112S	probably benign	Het
Otog	A	T	7: 46,265,719 (GRCm38)	Q836L	probably benign	Het
Pcdhb11	T	C	18: 37,422,966 (GRCm38)	F450L	probably damaging	Het
Pelp1	T	C	11: 70,394,009 (GRCm38)	E1011G	unknown	Het
Pfkfb3	T	G	2: 11,481,298 (GRCm38)	R459S	probably benign	Het
Pgm2	T	C	4: 99,986,721 (GRCm38)	L567P	probably damaging	Het
Phf2	T	A	13: 48,817,816 (GRCm38)	D460V	unknown	Het
Polr1f	G	A	12: 33,429,724 (GRCm38)	G24R	possibly damaging	Het
Pou5f1	G	A	17: 35,508,834 (GRCm38)		probably benign	Het
Pou6f2	T	C	13: 18,125,263 (GRCm38)	R604G		Het
Pramel5	T	A	4: 144,272,975 (GRCm38)	I181F	probably benign	Het
Ptprc	T	C	1: 138,080,889 (GRCm38)	R687G	probably damaging	Het
Ptprz1	T	A	6: 23,007,293 (GRCm38)	H1618Q	probably damaging	Het
Qars1	G	A	9: 108,514,383 (GRCm38)	D618N	probably damaging	Het
Ripply3	A	G	16: 94,333,280 (GRCm38)	T68A	probably benign	Het
Rrad	A	G	8: 104,629,688 (GRCm38)	M160T	probably benign	Het
Rtn1	A	G	12: 72,304,187 (GRCm38)	V416A	probably damaging	Het
Rttn	A	G	18: 89,017,210 (GRCm38)	N736S	possibly damaging	Het
Sash1	A	T	10: 8,740,205 (GRCm38)	V631E	probably damaging	Het
Selenof	T	A	3: 144,577,609 (GRCm38)	F33L	probably benign	Het
Serpinb6b	A	T	13: 32,971,549 (GRCm38)	N82Y	possibly damaging	Het
Sez6	G	A	11: 77,974,295 (GRCm38)	E623K	possibly damaging	Het
Shpk	G	T	11: 73,213,412 (GRCm38)	R129L	probably damaging	Het
Slc2a10	A	C	2: 165,516,256 (GRCm38)	I434L	probably damaging	Het
Slc30a6	G	T	17: 74,423,064 (GRCm38)	M316I	probably benign	Het
Slx4	A	T	16: 3,986,105 (GRCm38)	H948Q	probably benign	Het
Sncaip	A	G	18: 52,906,654 (GRCm38)	E640G	probably damaging	Het
Sox7	G	A	14: 63,948,060 (GRCm38)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,778,039 (GRCm38)	Y304F	probably benign	Het
Srcin1	A	G	11: 97,551,822 (GRCm38)	I60T	probably benign	Het
Srm	C	T	4: 148,591,582 (GRCm38)		probably benign	Het
Srrt	A	T	5: 137,298,427 (GRCm38)	M447K	possibly damaging	Het
Stam	A	T	2: 14,117,393 (GRCm38)	H101L	probably damaging	Het
Suz12	C	T	11: 80,024,922 (GRCm38)	T407M	possibly damaging	Het
Tbc1d10b	A	G	7: 127,207,864 (GRCm38)	V167A	probably benign	Het
Trav16	T	A	14: 53,743,453 (GRCm38)	V33E	possibly damaging	Het
Tshr	C	T	12: 91,537,635 (GRCm38)	P449L	probably damaging	Het
Ttc17	A	G	2: 94,378,752 (GRCm38)	V119A	probably damaging	Het
Ttc19	A	G	11: 62,313,171 (GRCm38)	I319M	probably benign	Het
Ttc6	A	G	12: 57,617,513 (GRCm38)	M351V	probably benign	Het
Ttn	A	T	2: 76,919,866 (GRCm38)	V3613E	probably benign	Het
Ttn	G	A	2: 76,884,553 (GRCm38)	R8026*	probably null	Het
Txndc16	T	C	14: 45,163,010 (GRCm38)	I345V	probably benign	Het
Ube3b	T	C	5: 114,415,309 (GRCm38)	I914T	probably benign	Het
Vmn1r73	T	C	7: 11,756,480 (GRCm38)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,629,826 (GRCm38)	M380K	possibly damaging	Het
Zfp820	T	C	17: 21,819,126 (GRCm38)	Y407C	probably damaging	Het
Zic5	C	T	14: 122,464,375 (GRCm38)	A315T	unknown	Het
Zmiz1	C	A	14: 25,662,987 (GRCm38)	D1053E	unknown	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
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
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'- TCATGGGCTCCTTGTGGAAG -3'
(R):5'- GCTTGGAATAAGATTAGCCCTTTC -3'

Sequencing Primer
(F):5'- GCGGGGTTGTCACAAGAGC -3'
(R):5'- TGAACAGACCCTTCCACT -3'

Posted On

2022-09-12