Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00087:Itpr2'

1544

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Itpr5, Ip3r2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

146108299-146502223 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146397012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 317 (I317T)

Ref Sequence

ENSEMBL: ENSMUSP00000078526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053273] [ENSMUST00000079573] [ENSMUST00000131890] [ENSMUST00000139732]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053273
AA Change: I350T

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: I350T

Domain	Start	End	E-Value	Type
low complexity region	68	80	N/A	INTRINSIC
MIR	112	166	1.1e-5	SMART
MIR	173	223	8.9e-6	SMART
MIR	231	287	5.11e-6	SMART
MIR	294	402	3.73e-8	SMART
Pfam:RYDR_ITPR	473	670	1.5e-62	PFAM
low complexity region	882	890	N/A	INTRINSIC
Pfam:RYDR_ITPR	1183	1346	1.6e-16	PFAM
low complexity region	1773	1785	N/A	INTRINSIC
low complexity region	1897	1908	N/A	INTRINSIC
Pfam:RIH_assoc	1912	2022	4.6e-34	PFAM
low complexity region	2088	2098	N/A	INTRINSIC
transmembrane domain	2228	2250	N/A	INTRINSIC
Pfam:Ion_trans	2260	2552	5.1e-20	PFAM
coiled coil region	2631	2686	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079573
AA Change: I317T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: I317T

Domain	Start	End	E-Value	Type
low complexity region	68	80	N/A	INTRINSIC
MIR	112	166	1.1e-5	SMART
MIR	198	254	5.11e-6	SMART
MIR	261	369	3.73e-8	SMART
Pfam:RYDR_ITPR	438	644	5.4e-75	PFAM
low complexity region	849	857	N/A	INTRINSIC
Pfam:RYDR_ITPR	1148	1322	7.2e-60	PFAM
low complexity region	1740	1752	N/A	INTRINSIC
Pfam:RIH_assoc	1875	1994	5.8e-35	PFAM
low complexity region	2055	2065	N/A	INTRINSIC
transmembrane domain	2195	2217	N/A	INTRINSIC
transmembrane domain	2230	2249	N/A	INTRINSIC
low complexity region	2268	2279	N/A	INTRINSIC
Pfam:Ion_trans	2281	2507	2.4e-12	PFAM
coiled coil region	2598	2653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131890

SMART Domains

Protein: ENSMUSP00000121773
Gene: ENSMUSG00000030287

Domain	Start	End	E-Value	Type
Pfam:MIR	1	74	4.8e-22	PFAM
Pfam:RYDR_ITPR	113	319	1.9e-76	PFAM
low complexity region	524	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139732

SMART Domains

Protein: ENSMUSP00000119110
Gene: ENSMUSG00000030287

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
MIR	65	119	1.1e-5	SMART
MIR	126	176	8.9e-6	SMART
MIR	184	240	5.11e-6	SMART
MIR	247	355	3.73e-8	SMART
Pfam:RYDR_ITPR	424	630	3e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145418

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Itpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Itpr2	APN	6	146,390,836 (GRCm38)	missense	possibly damaging	0.88
IGL00229:Itpr2	APN	6	146,144,185 (GRCm38)	missense	probably damaging	1.00
IGL00712:Itpr2	APN	6	146,232,436 (GRCm38)	missense	possibly damaging	0.63
IGL00952:Itpr2	APN	6	146,158,961 (GRCm38)	missense	probably damaging	1.00
IGL00983:Itpr2	APN	6	146,310,981 (GRCm38)	splice site	probably benign
IGL01012:Itpr2	APN	6	146,345,161 (GRCm38)	missense	probably damaging	1.00
IGL01289:Itpr2	APN	6	146,112,535 (GRCm38)	nonsense	probably null
IGL01411:Itpr2	APN	6	146,376,062 (GRCm38)	critical splice donor site	probably null
IGL01557:Itpr2	APN	6	146,158,976 (GRCm38)	missense	probably damaging	0.99
IGL01669:Itpr2	APN	6	146,180,229 (GRCm38)	missense	probably damaging	1.00
IGL01809:Itpr2	APN	6	146,227,581 (GRCm38)	missense	probably damaging	1.00
IGL01814:Itpr2	APN	6	146,232,546 (GRCm38)	missense	probably benign	0.02
IGL02198:Itpr2	APN	6	146,323,227 (GRCm38)	missense	probably damaging	1.00
IGL02218:Itpr2	APN	6	146,240,262 (GRCm38)	splice site	probably benign
IGL02332:Itpr2	APN	6	146,426,542 (GRCm38)	missense	probably damaging	1.00
IGL02425:Itpr2	APN	6	146,391,321 (GRCm38)	missense	probably damaging	0.99
IGL02432:Itpr2	APN	6	146,325,173 (GRCm38)	missense	probably benign	0.05
IGL02726:Itpr2	APN	6	146,375,921 (GRCm38)	missense	probably benign	0.18
IGL02851:Itpr2	APN	6	146,385,979 (GRCm38)	missense	probably damaging	0.99
IGL02933:Itpr2	APN	6	146,312,904 (GRCm38)	missense	probably benign
IGL03015:Itpr2	APN	6	146,375,937 (GRCm38)	missense	probably benign
IGL03067:Itpr2	APN	6	146,325,182 (GRCm38)	missense	probably damaging	1.00
IGL03093:Itpr2	APN	6	146,379,510 (GRCm38)	missense	probably damaging	1.00
IGL03214:Itpr2	APN	6	146,180,244 (GRCm38)	missense	probably benign	0.02
IGL03275:Itpr2	APN	6	146,158,877 (GRCm38)	splice site	probably benign
IGL03332:Itpr2	APN	6	146,144,149 (GRCm38)	missense	probably damaging	0.98
IGL03352:Itpr2	APN	6	146,157,104 (GRCm38)	missense	probably damaging	1.00
IGL03377:Itpr2	APN	6	146,329,758 (GRCm38)	missense	probably benign
IGL03377:Itpr2	APN	6	146,329,715 (GRCm38)	missense	probably damaging	0.96
dollar_short	UTSW	6	146,397,019 (GRCm38)	nonsense	probably null
enfermos	UTSW	6	146,234,006 (GRCm38)	missense	probably damaging	0.98
Hopla	UTSW	6	146,194,598 (GRCm38)	missense	probably damaging	0.98
P0029:Itpr2	UTSW	6	146,379,489 (GRCm38)	missense	probably damaging	1.00
PIT4431001:Itpr2	UTSW	6	146,354,720 (GRCm38)	missense	probably benign
PIT4453001:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
PIT4504001:Itpr2	UTSW	6	146,229,871 (GRCm38)	missense	probably damaging	0.99
R0040:Itpr2	UTSW	6	146,345,140 (GRCm38)	missense	probably damaging	1.00
R0040:Itpr2	UTSW	6	146,345,140 (GRCm38)	missense	probably damaging	1.00
R0048:Itpr2	UTSW	6	146,232,291 (GRCm38)	splice site	probably null
R0048:Itpr2	UTSW	6	146,232,291 (GRCm38)	splice site	probably null
R0055:Itpr2	UTSW	6	146,323,133 (GRCm38)	missense	probably benign	0.42
R0055:Itpr2	UTSW	6	146,323,133 (GRCm38)	missense	probably benign	0.42
R0088:Itpr2	UTSW	6	146,241,185 (GRCm38)	missense	probably benign
R0089:Itpr2	UTSW	6	146,350,022 (GRCm38)	critical splice donor site	probably null
R0114:Itpr2	UTSW	6	146,312,879 (GRCm38)	missense	probably damaging	1.00
R0125:Itpr2	UTSW	6	146,240,453 (GRCm38)	missense	probably benign	0.00
R0144:Itpr2	UTSW	6	146,327,155 (GRCm38)	missense	probably damaging	0.98
R0180:Itpr2	UTSW	6	146,501,909 (GRCm38)	start gained	probably benign
R0211:Itpr2	UTSW	6	146,194,613 (GRCm38)	missense	probably benign	0.17
R0305:Itpr2	UTSW	6	146,311,103 (GRCm38)	missense	possibly damaging	0.63
R0367:Itpr2	UTSW	6	146,234,008 (GRCm38)	missense	probably damaging	1.00
R0374:Itpr2	UTSW	6	146,359,392 (GRCm38)	missense	probably benign	0.00
R0391:Itpr2	UTSW	6	146,229,773 (GRCm38)	missense	probably damaging	1.00
R0450:Itpr2	UTSW	6	146,417,979 (GRCm38)	missense	possibly damaging	0.66
R0464:Itpr2	UTSW	6	146,375,889 (GRCm38)	missense	probably damaging	1.00
R0510:Itpr2	UTSW	6	146,417,979 (GRCm38)	missense	possibly damaging	0.66
R0532:Itpr2	UTSW	6	146,112,400 (GRCm38)	missense	probably damaging	1.00
R0625:Itpr2	UTSW	6	146,166,651 (GRCm38)	missense	probably benign
R0633:Itpr2	UTSW	6	146,374,456 (GRCm38)	missense	probably damaging	1.00
R0636:Itpr2	UTSW	6	146,171,412 (GRCm38)	missense	probably damaging	1.00
R1086:Itpr2	UTSW	6	146,350,045 (GRCm38)	missense	probably damaging	1.00
R1352:Itpr2	UTSW	6	146,111,742 (GRCm38)	missense	probably damaging	1.00
R1631:Itpr2	UTSW	6	146,180,290 (GRCm38)	missense	probably damaging	1.00
R1655:Itpr2	UTSW	6	146,376,148 (GRCm38)	missense	probably damaging	1.00
R1767:Itpr2	UTSW	6	146,350,068 (GRCm38)	missense	possibly damaging	0.91
R1779:Itpr2	UTSW	6	146,158,901 (GRCm38)	nonsense	probably null
R1796:Itpr2	UTSW	6	146,296,673 (GRCm38)	missense	probably benign
R1815:Itpr2	UTSW	6	146,359,416 (GRCm38)	missense	probably benign	0.08
R1827:Itpr2	UTSW	6	146,328,332 (GRCm38)	missense	probably damaging	1.00
R1828:Itpr2	UTSW	6	146,328,332 (GRCm38)	missense	probably damaging	1.00
R1884:Itpr2	UTSW	6	146,385,971 (GRCm38)	missense	probably benign	0.16
R1902:Itpr2	UTSW	6	146,229,703 (GRCm38)	missense	probably damaging	1.00
R1931:Itpr2	UTSW	6	146,240,354 (GRCm38)	missense	probably benign	0.41
R1964:Itpr2	UTSW	6	146,111,693 (GRCm38)	missense	probably damaging	1.00
R2010:Itpr2	UTSW	6	146,227,524 (GRCm38)	splice site	probably null
R2168:Itpr2	UTSW	6	146,111,678 (GRCm38)	missense	probably benign	0.05
R2179:Itpr2	UTSW	6	146,375,966 (GRCm38)	missense	probably benign
R2290:Itpr2	UTSW	6	146,422,828 (GRCm38)	missense	probably damaging	1.00
R2874:Itpr2	UTSW	6	146,426,498 (GRCm38)	missense	possibly damaging	0.73
R2888:Itpr2	UTSW	6	146,171,293 (GRCm38)	missense	probably damaging	1.00
R2897:Itpr2	UTSW	6	146,323,169 (GRCm38)	missense	probably damaging	1.00
R2897:Itpr2	UTSW	6	146,173,341 (GRCm38)	missense	probably benign	0.03
R2898:Itpr2	UTSW	6	146,323,169 (GRCm38)	missense	probably damaging	1.00
R2898:Itpr2	UTSW	6	146,173,341 (GRCm38)	missense	probably benign	0.03
R3024:Itpr2	UTSW	6	146,180,310 (GRCm38)	missense	probably benign	0.35
R3104:Itpr2	UTSW	6	146,312,837 (GRCm38)	critical splice donor site	probably null
R3607:Itpr2	UTSW	6	146,227,601 (GRCm38)	missense	probably damaging	0.98
R3732:Itpr2	UTSW	6	146,382,700 (GRCm38)	missense	probably damaging	1.00
R3732:Itpr2	UTSW	6	146,382,700 (GRCm38)	missense	probably damaging	1.00
R3733:Itpr2	UTSW	6	146,382,700 (GRCm38)	missense	probably damaging	1.00
R3792:Itpr2	UTSW	6	146,415,354 (GRCm38)	missense	probably damaging	1.00
R3806:Itpr2	UTSW	6	146,232,291 (GRCm38)	splice site	probably null
R3821:Itpr2	UTSW	6	146,417,726 (GRCm38)	missense	probably damaging	1.00
R3929:Itpr2	UTSW	6	146,374,359 (GRCm38)	splice site	probably null
R3958:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R3959:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R3960:Itpr2	UTSW	6	146,229,764 (GRCm38)	missense	probably damaging	1.00
R3960:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R4074:Itpr2	UTSW	6	146,373,244 (GRCm38)	splice site	probably null
R4085:Itpr2	UTSW	6	146,144,248 (GRCm38)	missense	probably damaging	1.00
R4114:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R4115:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R4588:Itpr2	UTSW	6	146,241,196 (GRCm38)	missense	probably benign	0.33
R4663:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4673:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4684:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4686:Itpr2	UTSW	6	146,229,775 (GRCm38)	missense	probably damaging	1.00
R4713:Itpr2	UTSW	6	146,396,958 (GRCm38)	missense	probably damaging	1.00
R4713:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4729:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4732:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4733:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4801:Itpr2	UTSW	6	146,371,331 (GRCm38)	missense	probably damaging	1.00
R4802:Itpr2	UTSW	6	146,371,331 (GRCm38)	missense	probably damaging	1.00
R4877:Itpr2	UTSW	6	146,325,205 (GRCm38)	missense	probably damaging	1.00
R4970:Itpr2	UTSW	6	146,233,991 (GRCm38)	missense	possibly damaging	0.95
R4986:Itpr2	UTSW	6	146,240,342 (GRCm38)	missense	probably damaging	0.96
R5112:Itpr2	UTSW	6	146,233,991 (GRCm38)	missense	possibly damaging	0.95
R5200:Itpr2	UTSW	6	146,144,107 (GRCm38)	critical splice donor site	probably null
R5224:Itpr2	UTSW	6	146,166,651 (GRCm38)	missense	probably benign
R5243:Itpr2	UTSW	6	146,187,546 (GRCm38)	missense	probably damaging	1.00
R5348:Itpr2	UTSW	6	146,476,693 (GRCm38)	missense	possibly damaging	0.78
R5393:Itpr2	UTSW	6	146,376,155 (GRCm38)	nonsense	probably null
R5552:Itpr2	UTSW	6	146,294,080 (GRCm38)	missense	probably benign
R5579:Itpr2	UTSW	6	146,173,366 (GRCm38)	nonsense	probably null
R5744:Itpr2	UTSW	6	146,376,151 (GRCm38)	missense	probably damaging	1.00
R5825:Itpr2	UTSW	6	146,144,149 (GRCm38)	missense	probably damaging	0.98
R5910:Itpr2	UTSW	6	146,329,571 (GRCm38)	missense	probably benign	0.10
R5911:Itpr2	UTSW	6	146,312,943 (GRCm38)	missense	probably benign	0.42
R6044:Itpr2	UTSW	6	146,396,951 (GRCm38)	missense	probably null	0.98
R6072:Itpr2	UTSW	6	146,347,111 (GRCm38)	missense	probably damaging	0.98
R6191:Itpr2	UTSW	6	146,328,335 (GRCm38)	missense	probably benign	0.01
R6483:Itpr2	UTSW	6	146,112,477 (GRCm38)	missense	possibly damaging	0.52
R6511:Itpr2	UTSW	6	146,329,727 (GRCm38)	missense	probably damaging	1.00
R6524:Itpr2	UTSW	6	146,345,211 (GRCm38)	missense	probably benign	0.01
R6561:Itpr2	UTSW	6	146,234,006 (GRCm38)	missense	probably damaging	0.98
R6594:Itpr2	UTSW	6	146,190,480 (GRCm38)	missense	possibly damaging	0.71
R6603:Itpr2	UTSW	6	146,347,171 (GRCm38)	missense	probably damaging	0.98
R6736:Itpr2	UTSW	6	146,325,170 (GRCm38)	missense	probably damaging	1.00
R6783:Itpr2	UTSW	6	146,385,873 (GRCm38)	critical splice donor site	probably null
R6831:Itpr2	UTSW	6	146,112,429 (GRCm38)	missense	probably damaging	1.00
R6857:Itpr2	UTSW	6	146,397,019 (GRCm38)	nonsense	probably null
R7103:Itpr2	UTSW	6	146,325,074 (GRCm38)	missense	probably damaging	1.00
R7111:Itpr2	UTSW	6	146,325,056 (GRCm38)	missense	probably damaging	1.00
R7126:Itpr2	UTSW	6	146,357,796 (GRCm38)	nonsense	probably null
R7165:Itpr2	UTSW	6	146,294,091 (GRCm38)	missense	probably damaging	1.00
R7184:Itpr2	UTSW	6	146,311,087 (GRCm38)	missense	possibly damaging	0.79
R7249:Itpr2	UTSW	6	146,311,052 (GRCm38)	missense	probably damaging	1.00
R7292:Itpr2	UTSW	6	146,158,949 (GRCm38)	missense	possibly damaging	0.95
R7342:Itpr2	UTSW	6	146,327,187 (GRCm38)	missense	probably damaging	0.98
R7392:Itpr2	UTSW	6	146,359,340 (GRCm38)	missense	possibly damaging	0.95
R7414:Itpr2	UTSW	6	146,373,208 (GRCm38)	missense	probably benign	0.06
R7448:Itpr2	UTSW	6	146,329,508 (GRCm38)	missense	probably damaging	1.00
R7492:Itpr2	UTSW	6	146,390,938 (GRCm38)	missense	probably damaging	1.00
R7515:Itpr2	UTSW	6	146,327,110 (GRCm38)	missense	probably damaging	1.00
R7529:Itpr2	UTSW	6	146,194,598 (GRCm38)	missense	probably damaging	0.98
R7558:Itpr2	UTSW	6	146,390,865 (GRCm38)	missense	probably damaging	1.00
R7650:Itpr2	UTSW	6	146,233,994 (GRCm38)	missense	probably benign	0.36
R7678:Itpr2	UTSW	6	146,187,550 (GRCm38)	missense	probably benign	0.00
R7790:Itpr2	UTSW	6	146,224,776 (GRCm38)	missense	probably damaging	1.00
R7798:Itpr2	UTSW	6	146,386,015 (GRCm38)	missense	probably benign	0.06
R7831:Itpr2	UTSW	6	146,291,584 (GRCm38)	missense	probably benign	0.04
R8023:Itpr2	UTSW	6	146,187,490 (GRCm38)	missense	probably damaging	0.97
R8046:Itpr2	UTSW	6	146,426,459 (GRCm38)	missense	probably damaging	0.96
R8236:Itpr2	UTSW	6	146,390,783 (GRCm38)	critical splice donor site	probably null
R8241:Itpr2	UTSW	6	146,418,515 (GRCm38)	missense	possibly damaging	0.90
R8245:Itpr2	UTSW	6	146,373,106 (GRCm38)	missense	probably damaging	0.98
R8324:Itpr2	UTSW	6	146,328,398 (GRCm38)	missense	probably damaging	0.97
R8339:Itpr2	UTSW	6	146,312,898 (GRCm38)	missense	probably benign	0.19
R8458:Itpr2	UTSW	6	146,233,966 (GRCm38)	missense	possibly damaging	0.62
R8506:Itpr2	UTSW	6	146,418,416 (GRCm38)	critical splice donor site	probably null
R8529:Itpr2	UTSW	6	146,329,553 (GRCm38)	missense	probably damaging	1.00
R8672:Itpr2	UTSW	6	146,374,518 (GRCm38)	missense	probably damaging	1.00
R8755:Itpr2	UTSW	6	146,232,428 (GRCm38)	missense	probably benign
R8816:Itpr2	UTSW	6	146,241,212 (GRCm38)	missense	probably damaging	0.98
R9160:Itpr2	UTSW	6	146,374,601 (GRCm38)	missense	probably damaging	1.00
R9273:Itpr2	UTSW	6	146,325,031 (GRCm38)	missense	probably damaging	1.00
R9284:Itpr2	UTSW	6	146,354,676 (GRCm38)	missense	probably benign	0.01
R9322:Itpr2	UTSW	6	146,325,089 (GRCm38)	missense	probably benign	0.19
R9357:Itpr2	UTSW	6	146,359,316 (GRCm38)	missense	probably damaging	1.00
R9424:Itpr2	UTSW	6	146,311,007 (GRCm38)	missense	probably damaging	0.98
R9438:Itpr2	UTSW	6	146,166,668 (GRCm38)	missense	probably benign
R9576:Itpr2	UTSW	6	146,311,007 (GRCm38)	missense	probably damaging	0.98
V8831:Itpr2	UTSW	6	146,385,882 (GRCm38)	missense	probably damaging	1.00
X0054:Itpr2	UTSW	6	146,323,236 (GRCm38)	missense	probably damaging	1.00
X0063:Itpr2	UTSW	6	146,180,353 (GRCm38)	missense	probably damaging	1.00

Posted On

2011-07-12