Mutagenetix > Incidental Mutation

Incidental Mutation 'R7779:Itpr1'

599070

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

045835-MU

Accession Numbers

NCBI RefSeq: NM_010585.5; MGI: 96623

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R7779 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108213096-108551109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108523348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2634 (E2634G)

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

possibly damaging
Transcript: ENSMUST00000032192
AA Change: E2634G

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: E2634G

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

possibly damaging
Transcript: ENSMUST00000203615
AA Change: E2633G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: E2633G

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,225,320 (GRCm38)	V563E	probably damaging	Het
Adra1d	A	G	2: 131,561,885 (GRCm38)	V95A	probably damaging	Het
Ak7	A	C	12: 105,742,350 (GRCm38)	I355L	probably benign	Het
Ank1	G	A	8: 23,096,747 (GRCm38)		probably null	Het
Apol7c	A	T	15: 77,525,746 (GRCm38)	H333Q	probably damaging	Het
Arfgef3	T	C	10: 18,595,023 (GRCm38)	M1665V	probably damaging	Het
Arid5b	A	G	10: 68,096,776 (GRCm38)	Y1099H	probably damaging	Het
Atp8b1	A	G	18: 64,541,382 (GRCm38)	S943P	probably damaging	Het
BC005537	C	T	13: 24,803,399 (GRCm38)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379 (GRCm38)		probably benign	Het
Bco1	A	G	8: 117,117,396 (GRCm38)	Y283C	probably damaging	Het
Brd4	A	T	17: 32,212,936 (GRCm38)	D652E	probably benign	Het
Cacna1s	G	A	1: 136,119,029 (GRCm38)	A1799T	probably damaging	Het
Camsap3	A	G	8: 3,597,887 (GRCm38)	Y65C	probably damaging	Het
Capn1	T	C	19: 5,994,086 (GRCm38)	K535E	probably benign	Het
Cbl	A	G	9: 44,159,096 (GRCm38)	S480P	probably benign	Het
Cfap99	A	C	5: 34,311,664 (GRCm38)	N294T	probably benign	Het
Defa24	A	C	8: 21,735,339 (GRCm38)	S82R	probably benign	Het
Dnaic2	T	C	11: 114,754,409 (GRCm38)	F557L	possibly damaging	Het
Dnhd1	T	A	7: 105,677,915 (GRCm38)	H690Q	probably benign	Het
Dock2	A	G	11: 34,714,455 (GRCm38)	V279A	probably benign	Het
Dst	T	A	1: 34,194,597 (GRCm38)	V3462E	probably damaging	Het
E2f3	T	G	13: 29,918,615 (GRCm38)	H221P	probably damaging	Het
Eif2b4	A	T	5: 31,190,654 (GRCm38)	I238N	probably damaging	Het
Eno4	T	C	19: 58,968,543 (GRCm38)	S530P	probably benign	Het
Epb42	T	G	2: 121,034,435 (GRCm38)	K58N	probably benign	Het
Etl4	C	T	2: 20,709,477 (GRCm38)	T129I	probably damaging	Het
Extl1	T	C	4: 134,360,597 (GRCm38)	K449E	probably benign	Het
Extl1	A	G	4: 134,357,703 (GRCm38)	F652S	probably damaging	Het
F13b	T	A	1: 139,516,386 (GRCm38)	V486E	probably benign	Het
Fbln2	T	A	6: 91,233,194 (GRCm38)	L40Q	probably damaging	Het
Glp2r	C	T	11: 67,709,783 (GRCm38)	W413*	probably null	Het
Grin2b	A	T	6: 135,778,794 (GRCm38)	Y507*	probably null	Het
H2-M11	G	T	17: 36,548,806 (GRCm38)	L230F	probably benign	Het
Il1f6	T	C	2: 24,216,601 (GRCm38)	Y66H	probably damaging	Het
Itpr3	A	T	17: 27,096,063 (GRCm38)	Y728F	probably damaging	Het
Jak1	C	T	4: 101,160,142 (GRCm38)	E764K	probably benign	Het
Jak3	G	T	8: 71,687,288 (GRCm38)	R1045L	probably benign	Het
Jam2	T	C	16: 84,809,383 (GRCm38)	I95T	probably damaging	Het
Kdf1	T	C	4: 133,528,485 (GRCm38)	V171A	probably damaging	Het
Lactbl1	A	T	4: 136,630,996 (GRCm38)	K93*	probably null	Het
Lcn6	T	C	2: 25,680,793 (GRCm38)	V131A	probably benign	Het
Lpar5	T	A	6: 125,082,244 (GRCm38)	D309E	probably damaging	Het
Lrfn4	T	C	19: 4,613,687 (GRCm38)	E273G	probably damaging	Het
Lta4h	C	T	10: 93,474,949 (GRCm38)	T447I	probably benign	Het
Lyst	A	G	13: 13,634,543 (GRCm38)	E266G	probably damaging	Het
Mab21l1	A	T	3: 55,783,375 (GRCm38)	I128F	possibly damaging	Het
Mrgprb4	T	G	7: 48,199,147 (GRCm38)	N11T	probably benign	Het
Mroh6	G	A	15: 75,888,656 (GRCm38)	T23I	possibly damaging	Het
Myo1f	T	C	17: 33,578,273 (GRCm38)	I143T	probably benign	Het
Myof	C	T	19: 37,939,390 (GRCm38)	D1092N	probably damaging	Het
Ncan	G	T	8: 70,115,011 (GRCm38)	D150E	probably damaging	Het
Olfr1392	T	A	11: 49,294,221 (GRCm38)	L300Q	probably damaging	Het
Olfr412	T	A	11: 74,364,945 (GRCm38)	I92N	probably damaging	Het
Olfr794	A	T	10: 129,571,311 (GRCm38)	I219F	probably damaging	Het
Pcm1	A	G	8: 41,329,024 (GRCm38)	Y1948C	probably damaging	Het
Pcsk6	A	T	7: 66,025,404 (GRCm38)	T669S	probably benign	Het
Pdlim5	A	C	3: 142,242,686 (GRCm38)	N613K	probably benign	Het
Pdzk1	T	A	3: 96,857,273 (GRCm38)	V291D	probably damaging	Het
Plbd2	T	C	5: 120,487,678 (GRCm38)	Q408R	probably damaging	Het
Ppp1r37	C	A	7: 19,532,787 (GRCm38)	A392S	possibly damaging	Het
Proser2	T	A	2: 6,103,067 (GRCm38)		probably null	Het
Psmd12	T	C	11: 107,497,579 (GRCm38)	V406A	probably benign	Het
Rab3gap2	T	C	1: 185,259,444 (GRCm38)	V709A	probably damaging	Het
Radil	T	C	5: 142,487,565 (GRCm38)	E787G	probably benign	Het
Rai14	A	C	15: 10,593,026 (GRCm38)	D177E	probably damaging	Het
Rbms2	G	A	10: 128,143,446 (GRCm38)	T166I	probably damaging	Het
Rrh	C	T	3: 129,815,320 (GRCm38)	C115Y	probably benign	Het
Slc1a6	C	T	10: 78,795,955 (GRCm38)	T205I	probably damaging	Het
Sost	T	C	11: 101,966,849 (GRCm38)	E42G	possibly damaging	Het
Spcs3	T	A	8: 54,529,770 (GRCm38)	I46F	possibly damaging	Het
Spg11	A	G	2: 122,070,939 (GRCm38)	S1507P	probably damaging	Het
Sprtn	C	T	8: 124,898,243 (GRCm38)	P29L	possibly damaging	Het
Sptan1	C	T	2: 30,021,307 (GRCm38)	T1886I	probably damaging	Het
Strn4	T	C	7: 16,831,492 (GRCm38)	F394S	probably damaging	Het
Syt14	A	T	1: 192,984,443 (GRCm38)	M51K	unknown	Het
Terb2	A	G	2: 122,186,494 (GRCm38)	K32R	probably benign	Het
Tex15	G	A	8: 33,575,281 (GRCm38)	G1580R	probably damaging	Het
Thumpd3	T	C	6: 113,059,989 (GRCm38)	V283A	probably damaging	Het
Tm7sf2	T	C	19: 6,062,917 (GRCm38)	Y418C	possibly damaging	Het
Trim24	T	A	6: 37,919,398 (GRCm38)	F263L	probably damaging	Het
Trim24	T	G	6: 37,919,397 (GRCm38)	F263C	probably damaging	Het
Trip11	A	G	12: 101,883,537 (GRCm38)	S1423P	probably damaging	Het
Vps13c	G	A	9: 67,881,422 (GRCm38)	V326M	probably damaging	Het
Vps37c	T	C	19: 10,712,624 (GRCm38)	V150A	probably damaging	Het
Wdr90	C	T	17: 25,846,326 (GRCm38)	R1652Q	probably damaging	Het
Wfdc9	A	G	2: 164,650,596 (GRCm38)	V37A	probably damaging	Het
Yif1b	T	A	7: 29,245,903 (GRCm38)	M227K	probably damaging	Het
Zbtb18	T	C	1: 177,446,939 (GRCm38)		probably benign	Het
Zfp318	A	G	17: 46,399,894 (GRCm38)	T848A	probably benign	Het
Zfp808	T	A	13: 62,172,757 (GRCm38)	I600K	possibly damaging	Het
Zmym1	C	A	4: 127,054,245 (GRCm38)	S111I	probably benign	Het
Zmym2	A	G	14: 56,928,283 (GRCm38)	T688A	probably 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
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
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'- TAAGTCAGACTCCCTGCCTG -3'
(R):5'- CTACAGGTGCCAGAAACATTG -3'

Sequencing Primer
(F):5'- CCTCCTACCATGATGAAAGTGGG -3'
(R):5'- TGCCAGAAACATTGAACCAGG -3'

Posted On

2019-11-26