Mutagenetix > Incidental Mutation

Incidental Mutation 'R3959:Itpr2'

310833

Institutional Source

Beutler Lab

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Itpr5, Ip3r2

MMRRC Submission

040835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3959 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146108299-146502223 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146425510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 120 (V120I)

Ref Sequence

ENSEMBL: ENSMUSP00000078526 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053273
AA Change: V120I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: V120I

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: V120I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: V120I

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

noncoding transcript
Transcript: ENSMUST00000111673

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

Meta Mutation Damage Score

0.3091

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (37/37)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
Adam26a	T	C	8: 43,569,871 (GRCm38)	H194R	probably benign	Het
Celf4	A	G	18: 25,537,754 (GRCm38)	M124T	probably benign	Het
Csmd3	A	T	15: 47,644,189 (GRCm38)	I2976K	probably benign	Het
Dnhd1	A	G	7: 105,713,122 (GRCm38)	H3730R	probably benign	Het
Dock8	G	A	19: 25,184,941 (GRCm38)		probably null	Het
Eed	C	T	7: 89,954,941 (GRCm38)	R441Q	probably benign	Het
Espl1	A	G	15: 102,312,989 (GRCm38)	I944V	probably damaging	Het
Etl4	A	G	2: 20,340,043 (GRCm38)	T53A	probably benign	Het
Evc2	T	A	5: 37,415,776 (GRCm38)	V944E	possibly damaging	Het
Hmgcs2	T	C	3: 98,297,477 (GRCm38)	F317S	possibly damaging	Het
Itprid1	A	T	6: 55,897,740 (GRCm38)	Q225L	probably benign	Het
Mapk8	A	C	14: 33,382,253 (GRCm38)	M402R	probably null	Het
Mycbp2	T	C	14: 103,295,252 (GRCm38)	Y389C	probably benign	Het
Nceh1	T	C	3: 27,279,196 (GRCm38)	I147T	probably benign	Het
Nfatc3	C	T	8: 106,099,077 (GRCm38)	R587*	probably null	Het
Nin	A	T	12: 70,050,752 (GRCm38)	F516L	probably damaging	Het
Npm1	T	A	11: 33,154,012 (GRCm38)	N272Y	probably damaging	Het
Ntrk3	T	C	7: 78,198,842 (GRCm38)	E787G	probably damaging	Het
Or5t5	G	A	2: 86,785,996 (GRCm38)	V89I	probably benign	Het
Ppp1r21	A	G	17: 88,549,816 (GRCm38)	E189G	probably damaging	Het
Prrc2c	A	T	1: 162,708,892 (GRCm38)		probably benign	Het
Rrn3	T	C	16: 13,782,100 (GRCm38)		probably null	Het
Sec23ip	C	G	7: 128,776,850 (GRCm38)	T796S	probably benign	Het
Serpina3f	T	A	12: 104,217,140 (GRCm38)	I87N	probably damaging	Het
Slc22a27	G	A	19: 7,910,049 (GRCm38)	T188I	probably damaging	Het
Triobp	T	A	15: 79,002,389 (GRCm38)	C1930*	probably null	Het
Ucp3	A	G	7: 100,482,739 (GRCm38)	T266A	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Vmn2r2	C	T	3: 64,140,526 (GRCm38)	M6I	probably benign	Het
Vmn2r72	A	T	7: 85,751,131 (GRCm38)	L237I	probably benign	Het
Zfp518a	A	C	19: 40,912,698 (GRCm38)	Q357P	probably damaging	Het

Other mutations in Itpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Itpr2	APN	6	146,397,012 (GRCm38)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAATGGATTCCCTATGTTCTGG -3'
(R):5'- AGGGATGCAGTCAGTCTGAC -3'

Sequencing Primer
(F):5'- GGCCTGGTGCAAGACATATTC -3'
(R):5'- GACTTACTCTTGTTACTGAGAATGC -3'

Posted On

2015-04-29