Mutagenetix > Incidental Mutation

Incidental Mutation 'R5869:Itpr1'

454326

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

044077-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R5869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108190057-108528070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108450490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1940 (S1940P)

Ref Sequence

ENSEMBL: ENSMUSP00000144880 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032192
AA Change: S1941P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: S1941P

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: S1940P

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: S1940P

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

unknown
Transcript: ENSMUST00000203638
AA Change: S276P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205048

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,161,450 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,239,903 (GRCm39)	E100G	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Aspscr1	T	C	11: 120,579,746 (GRCm39)	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,939 (GRCm39)		probably benign	Het
Calm5	T	A	13: 3,904,321 (GRCm39)		probably benign	Het
Car5a	G	A	8: 122,643,119 (GRCm39)	T295I	probably benign	Het
Ccdc174	T	A	6: 91,862,399 (GRCm39)		probably benign	Het
Celsr2	G	A	3: 108,321,225 (GRCm39)	A529V	probably damaging	Het
Cep192	A	G	18: 67,948,935 (GRCm39)	D252G	probably benign	Het
Clcnka	A	G	4: 141,122,276 (GRCm39)	F217L	probably benign	Het
Cnot3	A	T	7: 3,647,929 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,907 (GRCm39)		probably benign	Het
Cstf3	A	G	2: 104,489,585 (GRCm39)		probably null	Het
Dcdc2a	C	T	13: 25,291,713 (GRCm39)	P233S	probably benign	Het
Ddx55	A	G	5: 124,706,745 (GRCm39)	T581A	probably benign	Het
Exo1	T	C	1: 175,728,849 (GRCm39)	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,068,511 (GRCm39)	E616G	possibly damaging	Het
Fignl2	T	C	15: 100,951,161 (GRCm39)	S374G	unknown	Het
Gm4799	A	T	10: 82,790,283 (GRCm39)		noncoding transcript	Het
Hectd4	T	C	5: 121,481,288 (GRCm39)		probably null	Het
Ighv1-76	T	C	12: 115,811,658 (GRCm39)	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,234,531 (GRCm39)	H465Q	probably benign	Het
Itga9	A	G	9: 118,492,957 (GRCm39)	D284G	probably damaging	Het
Kcnb1	A	G	2: 167,029,991 (GRCm39)	S185P	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt1	A	T	15: 101,758,566 (GRCm39)	F199L	probably damaging	Het
Lpin2	A	G	17: 71,539,271 (GRCm39)		probably benign	Het
Lrp1b	A	C	2: 40,894,615 (GRCm39)	D2204E	probably damaging	Het
Mier3	T	A	13: 111,851,384 (GRCm39)	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mroh3	T	A	1: 136,113,861 (GRCm39)	M643L	probably benign	Het
Myh11	A	G	16: 14,048,664 (GRCm39)	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,785,505 (GRCm39)	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,438,960 (GRCm39)	R179Q	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Pias1	A	T	9: 62,820,048 (GRCm39)	D306E	probably benign	Het
Pick1	A	G	15: 79,133,095 (GRCm39)	D385G	probably benign	Het
Pitx3	A	T	19: 46,125,735 (GRCm39)		probably benign	Het
Plpp3	T	A	4: 105,052,159 (GRCm39)		probably null	Het
Prlhr	C	A	19: 60,456,059 (GRCm39)	R169L	probably damaging	Het
Ptprf	A	C	4: 118,067,579 (GRCm39)	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,604,939 (GRCm39)	D35G	probably benign	Het
Rnf130	A	G	11: 49,976,642 (GRCm39)		probably null	Het
Rnf17	A	C	14: 56,743,445 (GRCm39)	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,742,708 (GRCm39)	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,388,943 (GRCm39)	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,526,379 (GRCm39)	V855G	probably benign	Het
Slc5a5	C	A	8: 71,344,974 (GRCm39)	R111L	probably damaging	Het
Spart	A	T	3: 55,042,931 (GRCm39)	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,686 (GRCm39)	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,086,925 (GRCm39)	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 155,011,055 (GRCm39)		probably null	Het
Tnfrsf19	C	T	14: 61,208,627 (GRCm39)	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,787,858 (GRCm39)	K809E	probably benign	Het
Ttn	G	A	2: 76,580,553 (GRCm39)	P23447S	probably damaging	Het
Uap1	T	A	1: 169,978,707 (GRCm39)		probably null	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zfp523	T	C	17: 28,413,967 (GRCm39)	I34T	probably benign	Het
Zfp808	T	A	13: 62,319,069 (GRCm39)	H99Q	probably 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
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
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'- TCACAAAGGCGGGAATCTG -3'
(R):5'- CACATTTCCAGGTTTCCACAGC -3'

Sequencing Primer
(F):5'- AAGGCGGGAATCTGGGCTTC -3'
(R):5'- AGGTTTCCACAGCCTCGC -3'

Posted On

2017-02-10