Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Itpr1'

282589

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

NCBI RefSeq: NM_010585.5; MGI: 96623

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

108213096-108551109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108389483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 124 (K124E)

Ref Sequence

ENSEMBL: ENSMUSP00000148284 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032192
AA Change: K956E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: K956E

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: K956E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: K956E

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

noncoding transcript
Transcript: ENSMUST00000203995

Predicted Effect

probably benign
Transcript: ENSMUST00000212125
AA Change: K124E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	C	13: 98,984,207 (GRCm38)	K104E	probably damaging	Het
4930578C19Rik	T	A	X: 18,418,953 (GRCm38)	R421*	probably null	Het
5730480H06Rik	T	A	5: 48,380,182 (GRCm38)	V187E	probably benign	Het
Abcc12	T	A	8: 86,527,404 (GRCm38)	D917V	probably damaging	Het
Abhd15	A	T	11: 77,516,014 (GRCm38)	E272D	probably benign	Het
Adat3	T	A	10: 80,606,627 (GRCm38)	S100T	probably benign	Het
Adgrg6	T	C	10: 14,523,555 (GRCm38)		probably benign	Het
Alpl	C	T	4: 137,753,979 (GRCm38)	V121M	probably damaging	Het
Ano1	A	T	7: 144,637,181 (GRCm38)	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,739,537 (GRCm38)		probably benign	Het
Asxl2	A	G	12: 3,502,079 (GRCm38)	M1274V	probably benign	Het
BC048403	A	G	10: 121,750,770 (GRCm38)	Y194C	probably damaging	Het
Bmt2	G	T	6: 13,628,879 (GRCm38)	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,883,562 (GRCm38)	L176M	probably damaging	Het
Brd8	C	T	18: 34,602,727 (GRCm38)	S899N	probably damaging	Het
Cd14	T	C	18: 36,725,785 (GRCm38)	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,928,145 (GRCm38)	T215K	possibly damaging	Het
Chd9	T	C	8: 90,933,221 (GRCm38)	S270P	possibly damaging	Het
Cidea	C	T	18: 67,366,511 (GRCm38)	S156L	probably damaging	Het
Col5a3	A	G	9: 20,792,643 (GRCm38)		probably null	Het
Cspg5	T	C	9: 110,251,036 (GRCm38)	V424A	probably damaging	Het
Ctc1	A	G	11: 69,026,096 (GRCm38)	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,614,959 (GRCm38)	S697R	probably damaging	Het
Dennd3	T	C	15: 73,544,448 (GRCm38)	S516P	probably benign	Het
Dlgap4	G	A	2: 156,711,139 (GRCm38)	R509H	probably damaging	Het
Dus3l	T	C	17: 56,767,943 (GRCm38)		probably benign	Het
Dync1h1	G	T	12: 110,662,559 (GRCm38)	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 94,205,072 (GRCm38)	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,494,949 (GRCm38)		probably benign	Het
Ephx2	A	G	14: 66,103,720 (GRCm38)		probably benign	Het
Fabp12	T	A	3: 10,246,015 (GRCm38)	Y129F	probably damaging	Het
Fat3	A	G	9: 16,031,424 (GRCm38)		probably benign	Het
Fat4	T	C	3: 38,996,205 (GRCm38)		probably null	Het
Gnb1	T	A	4: 155,557,174 (GRCm38)		probably null	Het
Gpr107	C	A	2: 31,178,286 (GRCm38)	Y253*	probably null	Het
Grb10	C	T	11: 11,943,962 (GRCm38)	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,238,023 (GRCm38)	H154N	probably benign	Het
Hemk1	T	A	9: 107,331,536 (GRCm38)	H154L	probably benign	Het
Hk2	A	T	6: 82,743,939 (GRCm38)		probably null	Het
Htr5a	A	G	5: 27,842,465 (GRCm38)	N6S	probably damaging	Het
Htra3	T	C	5: 35,653,066 (GRCm38)	D424G	probably benign	Het
Ift52	A	G	2: 163,025,464 (GRCm38)		probably null	Het
Igdcc4	A	G	9: 65,124,782 (GRCm38)		probably benign	Het
Kcnc2	T	A	10: 112,455,685 (GRCm38)	N259K	possibly damaging	Het
Lmod2	A	T	6: 24,603,910 (GRCm38)	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,563,667 (GRCm38)	E2324G	probably benign	Het
Lss	T	C	10: 76,536,260 (GRCm38)	S150P	probably damaging	Het
Macf1	T	C	4: 123,480,272 (GRCm38)	N1515S	probably benign	Het
Mapk11	T	C	15: 89,145,448 (GRCm38)		probably null	Het
Mc3r	T	A	2: 172,249,394 (GRCm38)	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,530,288 (GRCm38)	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,334,096 (GRCm38)	F396L	probably damaging	Het
Nek2	A	G	1: 191,827,304 (GRCm38)	K307R	probably benign	Het
Olfr102	C	A	17: 37,313,687 (GRCm38)	M232I	probably benign	Het
Osmr	G	A	15: 6,842,048 (GRCm38)	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,423,359 (GRCm38)	S581A	probably benign	Het
Pfkp	C	T	13: 6,597,915 (GRCm38)	V542M	probably damaging	Het
Pmpca	C	T	2: 26,395,569 (GRCm38)	S519L	probably benign	Het
Ptgds	A	T	2: 25,469,112 (GRCm38)	Y44N	probably damaging	Het
Raly	T	A	2: 154,859,929 (GRCm38)	Y116*	probably null	Het
Rock2	A	G	12: 16,965,529 (GRCm38)	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,865,416 (GRCm38)	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,418,222 (GRCm38)	D673G	probably benign	Het
Spire2	A	T	8: 123,332,964 (GRCm38)	D67V	probably damaging	Het
St7l	T	C	3: 104,922,281 (GRCm38)		probably null	Het
Stau2	A	G	1: 16,345,828 (GRCm38)	L469P	probably damaging	Het
Tefm	A	G	11: 80,140,089 (GRCm38)	L107S	probably damaging	Het
Ticam1	A	T	17: 56,270,019 (GRCm38)	V692D	unknown	Het
Tipin	T	A	9: 64,294,349 (GRCm38)	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,536,377 (GRCm38)	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,469,756 (GRCm38)	M1L	unknown	Het
Ttn	C	A	2: 76,738,797 (GRCm38)	V27251F	probably damaging	Het
Uvrag	A	T	7: 99,004,689 (GRCm38)	C31*	probably null	Het
Zap70	T	C	1: 36,771,186 (GRCm38)	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,638,099 (GRCm38)	V194A	probably benign	Het
Zfp663	C	T	2: 165,359,048 (GRCm38)	W22*	probably null	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
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
R9632:Itpr1	UTSW	6	108,405,520 (GRCm38)	missense	possibly damaging	0.50
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

Posted On

2015-04-16