Mutagenetix > Incidental Mutation

Incidental Mutation 'R7502:Itpr1'

581548

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

045575-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R7502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108190057-108528070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108360639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 688 (E688D)

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

probably benign
Transcript: ENSMUST00000032192
AA Change: E688D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: E688D

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: E688D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: E688D

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,743,951 (GRCm39)	T661A	probably damaging	Het
Actrt2	T	C	4: 154,751,383 (GRCm39)	Y251C	probably benign	Het
Adat3	T	A	10: 80,442,255 (GRCm39)	V31D	probably damaging	Het
Adgrf4	T	C	17: 42,980,548 (GRCm39)	H179R	possibly damaging	Het
Ahcyl1	A	T	3: 107,578,513 (GRCm39)	Y241*	probably null	Het
Anks1	C	A	17: 28,227,114 (GRCm39)	T589K	possibly damaging	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Cacna1e	A	T	1: 154,344,734 (GRCm39)	M1130K	probably null	Het
Ccdc121rt1	G	A	1: 181,338,443 (GRCm39)	Q170*	probably null	Het
Ceacam18	A	T	7: 43,286,298 (GRCm39)	D57V	probably damaging	Het
Celf1	C	T	2: 90,835,100 (GRCm39)	Q194*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cep170	T	C	1: 176,583,595 (GRCm39)	D163G	probably damaging	Het
Cfap210	A	T	2: 69,606,488 (GRCm39)	D309E	probably benign	Het
Cftr	T	C	6: 18,214,295 (GRCm39)	F157S	probably damaging	Het
Chchd3	T	C	6: 32,945,164 (GRCm39)	E114G	probably damaging	Het
Cntnap2	T	A	6: 46,460,963 (GRCm39)	S666R	possibly damaging	Het
Col6a5	C	T	9: 105,753,075 (GRCm39)	V2266I	probably benign	Het
Ctr9	A	G	7: 110,633,133 (GRCm39)	D127G	probably benign	Het
Ctsl	A	T	13: 64,514,882 (GRCm39)	F141I	probably damaging	Het
Dcpp1	T	A	17: 24,101,615 (GRCm39)	Y121*	probably null	Het
Ddx42	T	C	11: 106,138,565 (GRCm39)	V788A	probably benign	Het
Ehd4	T	C	2: 119,921,874 (GRCm39)	I461V	probably benign	Het
Elp6	C	A	9: 110,134,376 (GRCm39)	L5I	possibly damaging	Het
Faap20	T	C	4: 155,334,793 (GRCm39)	S2P		Het
Fam98b	A	C	2: 117,094,344 (GRCm39)	Y218S	probably damaging	Het
Fbxl4	T	A	4: 22,376,655 (GRCm39)	D30E	probably benign	Het
Fcrlb	T	C	1: 170,736,210 (GRCm39)	T189A	probably damaging	Het
Gfpt1	A	G	6: 87,043,671 (GRCm39)	D302G	probably benign	Het
Gzmg	T	G	14: 56,394,284 (GRCm39)	E203D	not run	Het
Hsph1	A	C	5: 149,553,838 (GRCm39)	V210G	probably damaging	Het
Il20rb	A	T	9: 100,350,479 (GRCm39)	M138K	probably damaging	Het
Jmjd1c	T	G	10: 67,067,794 (GRCm39)	S1585A	probably damaging	Het
Kcnk3	A	T	5: 30,780,062 (GRCm39)	T371S	possibly damaging	Het
Kif11	T	A	19: 37,398,255 (GRCm39)	S694T	possibly damaging	Het
Kpna7	T	A	5: 144,942,731 (GRCm39)	H85L	probably benign	Het
Lipf	A	T	19: 33,954,006 (GRCm39)	I366F	probably damaging	Het
Lrrc27	A	G	7: 138,794,748 (GRCm39)	H37R	probably benign	Het
Mki67	T	C	7: 135,302,512 (GRCm39)	T841A	possibly damaging	Het
Mtss1	A	G	15: 58,820,210 (GRCm39)	S120P	probably damaging	Het
Nav1	A	G	1: 135,397,404 (GRCm39)	W922R	probably damaging	Het
Nwd1	A	G	8: 73,434,021 (GRCm39)	E1206G	probably damaging	Het
Obscn	T	C	11: 58,885,635 (GRCm39)	S7933G	unknown	Het
Or13j1	T	C	4: 43,706,316 (GRCm39)	H84R	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,010 (GRCm39)	V53A	probably benign	Het
Or2g25	T	A	17: 37,971,122 (GRCm39)	Y34F	probably damaging	Het
Or2k2	T	C	4: 58,785,648 (GRCm39)	I25V	probably benign	Het
Or4c52	T	C	2: 89,845,355 (GRCm39)	L27S	probably benign	Het
Otog	A	T	7: 45,948,039 (GRCm39)	I162F	probably damaging	Het
Paf1	G	A	7: 28,095,293 (GRCm39)	V153I	possibly damaging	Het
Pcdhga11	T	A	18: 37,889,554 (GRCm39)	D187E	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitrm1	G	T	13: 6,610,658 (GRCm39)	R424L	probably damaging	Het
Pla2g4e	T	A	2: 120,004,819 (GRCm39)		probably null	Het
Plaat1	T	C	16: 29,046,919 (GRCm39)	V146A	probably benign	Het
Prorp	T	C	12: 55,351,206 (GRCm39)	Y172H	probably damaging	Het
Prrc2a	T	C	17: 35,381,286 (GRCm39)	N61S	unknown	Het
Ror1	T	A	4: 100,190,827 (GRCm39)	D61E	probably benign	Het
Ryr3	G	A	2: 112,542,706 (GRCm39)	P3168S	probably benign	Het
Serinc4	T	A	2: 121,284,250 (GRCm39)	I289F	probably damaging	Het
Sez6l	A	T	5: 112,623,347 (GRCm39)	L68H	possibly damaging	Het
Sez6l2	A	G	7: 126,560,915 (GRCm39)	E460G	probably benign	Het
Sh3tc1	C	T	5: 35,863,406 (GRCm39)	G927D	probably damaging	Het
Slc22a27	G	C	19: 7,903,747 (GRCm39)	T130S	probably damaging	Het
Slc38a8	C	A	8: 120,227,820 (GRCm39)	A37S	possibly damaging	Het
Slc40a1	T	C	1: 45,958,134 (GRCm39)	N100D	probably damaging	Het
Slc49a3	G	A	5: 108,591,646 (GRCm39)		probably null	Het
Snx30	T	C	4: 59,894,567 (GRCm39)	F382L	possibly damaging	Het
Sox1	A	G	8: 12,446,913 (GRCm39)	N185D	possibly damaging	Het
Spsb1	C	T	4: 149,991,385 (GRCm39)	R61H	possibly damaging	Het
Sptbn2	T	C	19: 4,798,110 (GRCm39)	V1945A	probably benign	Het
St18	T	A	1: 6,898,194 (GRCm39)	N665K	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Syne2	G	A	12: 76,141,100 (GRCm39)	V1331M	probably damaging	Het
Tfap2c	T	C	2: 172,393,639 (GRCm39)	S185P	probably benign	Het
Tnfsf8	T	A	4: 63,769,398 (GRCm39)	D71V	probably damaging	Het
Tnn	T	C	1: 159,937,929 (GRCm39)	D1196G	probably benign	Het
Ttll8	A	G	15: 88,817,639 (GRCm39)		probably null	Het
Tubgcp3	A	G	8: 12,691,207 (GRCm39)	F444L	probably damaging	Het
Txndc11	G	A	16: 10,905,742 (GRCm39)	P596L	probably benign	Het
Ubr4	C	T	4: 139,139,983 (GRCm39)	P1189S	possibly damaging	Het
Usp32	T	C	11: 84,913,724 (GRCm39)	D869G	possibly damaging	Het
Vmn1r202	G	T	13: 22,686,188 (GRCm39)	N76K	probably damaging	Het
Wfdc6a	C	T	2: 164,421,761 (GRCm39)	M132I	probably benign	Het
Wnk2	A	T	13: 49,300,720 (GRCm39)		probably null	Het
Xbp1	A	G	11: 5,474,683 (GRCm39)		probably null	Het
Zfp551	A	T	7: 12,149,725 (GRCm39)	Y561*	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
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
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'- CACAGATCTTTGTGGCTCTGC -3'
(R):5'- ATGCCTTAGAGTGACCAACAAG -3'

Sequencing Primer
(F):5'- TCTGCCACTGGGAGAAAGAAAGAAC -3'
(R):5'- GAAAACCATATGCTCCCACTTG -3'

Posted On

2019-10-17