Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4366001:Itpr1'

554760

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

PIT4366001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108213096-108551109 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 108493757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 2215 (C2215*)

Ref Sequence

ENSEMBL: ENSMUSP00000032192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032192] [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
AA Change: C2215*

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: C2215*

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
AA Change: C2214*

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: C2214*

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: 93.0%
3x: 90.7%
10x: 85.5%
20x: 73.8%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 120,010,960 (GRCm38)	S870I	possibly damaging	Het
Abca13	T	C	11: 9,294,962 (GRCm38)	V2275A	probably benign	Het
Abcb5	T	C	12: 118,936,098 (GRCm38)	K278R	probably damaging	Het
Adcy2	TA	TAA	13: 68,709,990 (GRCm38)		probably benign	Het
Add3	C	T	19: 53,216,867 (GRCm38)	P16L	unknown	Het
Akap9	T	A	5: 4,046,221 (GRCm38)	D2365E	probably benign	Het
Asah1	A	G	8: 41,343,746 (GRCm38)	S300P	possibly damaging	Het
Astn1	A	T	1: 158,597,209 (GRCm38)	H655L	probably benign	Het
Astn1	A	T	1: 158,597,211 (GRCm38)	I656F	probably benign	Het
Bmpr1b	T	A	3: 141,880,463 (GRCm38)	T13S	probably benign	Het
Camsap2	A	G	1: 136,280,317 (GRCm38)	F478L		Het
Card10	G	A	15: 78,787,431 (GRCm38)	S611L	probably benign	Het
Cep68	T	C	11: 20,240,007 (GRCm38)	N335S	probably benign	Het
Chac1	T	C	2: 119,351,505 (GRCm38)	W35R	probably damaging	Het
Cntn6	T	C	6: 104,832,537 (GRCm38)	V511A	probably benign	Het
Cpne9	G	T	6: 113,294,746 (GRCm38)	G356W	probably damaging	Het
Dnah10	C	A	5: 124,775,524 (GRCm38)	T1939K	possibly damaging	Het
Dock10	T	C	1: 80,595,721 (GRCm38)	N239D	probably benign	Het
Dock5	T	C	14: 67,824,674 (GRCm38)	K415R	possibly damaging	Het
Dtd2	C	A	12: 51,999,799 (GRCm38)	D86Y	probably damaging	Het
Efcab9	A	G	11: 32,523,608 (GRCm38)	F127S	probably damaging	Het
Ermp1	T	C	19: 29,628,789 (GRCm38)	H375R	probably benign	Het
Frem2	A	T	3: 53,653,201 (GRCm38)	M1295K	probably damaging	Het
Gbp7	T	G	3: 142,542,951 (GRCm38)	I325R	probably benign	Het
Gpr179	T	C	11: 97,336,851 (GRCm38)	K1493E	probably benign	Het
Gucy2g	T	A	19: 55,237,782 (GRCm38)	E234V	probably null	Het
Ltn1	G	A	16: 87,380,840 (GRCm38)	R1634*	probably null	Het
Lynx1	A	T	15: 74,751,409 (GRCm38)	M58K	possibly damaging	Het
Macc1	T	C	12: 119,446,949 (GRCm38)	V484A	probably benign	Het
Map3k9	C	T	12: 81,772,761 (GRCm38)	V240M	possibly damaging	Het
Mars1	A	G	10: 127,299,398 (GRCm38)	M608T	possibly damaging	Het
Mc2r	T	C	18: 68,407,755 (GRCm38)	M156V	probably benign	Het
Mchr1	G	T	15: 81,237,216 (GRCm38)	V56L	probably benign	Het
Mlxip	C	T	5: 123,395,110 (GRCm38)	P61S	probably benign	Het
Mtarc1	A	G	1: 184,807,186 (GRCm38)	F96S	probably benign	Het
Muc4	A	G	16: 32,754,796 (GRCm38)	T1557A	unknown	Het
Myt1	T	C	2: 181,825,938 (GRCm38)	V1135A	probably damaging	Het
Ndufaf6	A	T	4: 11,073,215 (GRCm38)	S76T	probably benign	Het
Ntrk2	A	G	13: 59,060,335 (GRCm38)	Y665C	probably damaging	Het
Oaz3	T	G	3: 94,433,594 (GRCm38)	R215S	unknown	Het
Or10x1	T	C	1: 174,369,090 (GRCm38)	Y58H	probably damaging	Het
Or5m10b	T	C	2: 85,868,882 (GRCm38)	C97R	probably damaging	Het
Or5m8	A	T	2: 85,992,041 (GRCm38)	N75Y	probably damaging	Het
Or5w1b	C	T	2: 87,645,190 (GRCm38)	W311*	probably null	Het
Perm1	G	T	4: 156,218,735 (GRCm38)	V579L	probably benign	Het
Phyhipl	A	G	10: 70,568,958 (GRCm38)	V140A	probably benign	Het
Pip5k1c	T	A	10: 81,309,008 (GRCm38)	S228T	probably damaging	Het
Plekhn1	T	G	4: 156,224,811 (GRCm38)	T213P	probably damaging	Het
Pomt2	A	T	12: 87,116,529 (GRCm38)		probably null	Het
Ptcd1	A	G	5: 145,151,335 (GRCm38)	V622A	probably benign	Het
Ptn	T	A	6: 36,741,349 (GRCm38)	H127L	probably benign	Het
Ptprk	A	T	10: 28,586,019 (GRCm38)	M1193L	probably benign	Het
Ptpru	G	A	4: 131,799,712 (GRCm38)	P650S	probably benign	Het
Pum2	T	A	12: 8,733,390 (GRCm38)	L613Q	probably damaging	Het
Rapgef6	A	G	11: 54,691,620 (GRCm38)	T1458A	probably damaging	Het
Sap130	C	T	18: 31,677,409 (GRCm38)	A470V	probably benign	Het
Sertad2	C	A	11: 20,648,116 (GRCm38)	P104Q	probably benign	Het
Sfrp4	A	T	13: 19,630,244 (GRCm38)	M324L	unknown	Het
Sh3bp4	A	G	1: 89,145,434 (GRCm38)	N668S	probably benign	Het
Snx30	C	A	4: 59,894,653 (GRCm38)	D410E	probably benign	Het
Spata31	C	A	13: 64,921,505 (GRCm38)	S489*	probably null	Het
Taok3	T	A	5: 117,227,985 (GRCm38)	M367K	probably benign	Het
Tfap2a	T	C	13: 40,721,374 (GRCm38)	N254D	possibly damaging	Het
Tgtp1	T	G	11: 48,987,040 (GRCm38)	L279F	possibly damaging	Het
Tmpo	A	G	10: 91,163,310 (GRCm38)	F205S	probably damaging	Het
Tmprss5	A	T	9: 49,112,217 (GRCm38)	I218L	probably benign	Het
Tti2	A	G	8: 31,151,196 (GRCm38)	E116G	probably benign	Het
Vmn2r59	A	T	7: 42,045,781 (GRCm38)	N402K	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTAAGGGCTCTCAAATCAGAC -3'
(R):5'- TGACTCGCTTGTCCTTGGAG -3'

Sequencing Primer
(F):5'- GGGCTCTCAAATCAGACAGATTC -3'
(R):5'- GTGAAGCCTCAGAGCTGTACATTC -3'

Posted On

2019-06-07