Mutagenetix > Incidental Mutation

Incidental Mutation 'R1779:Itpr2'

197340

Institutional Source

Beutler Lab

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Ip3r2, Itpr5

MMRRC Submission

039810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1779 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

146009797-146403721 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 146060399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 2473 (R2473*)

Ref Sequence

ENSEMBL: ENSMUSP00000078526 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000053273
AA Change: R2506*

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: R2506*

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 null
Transcript: ENSMUST00000079573
AA Change: R2473*

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: R2473*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (101/104)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,200,163 (GRCm39)	L476F	probably damaging	Het
4930432E11Rik	A	T	7: 29,278,591 (GRCm39)		noncoding transcript	Het
A930011G23Rik	A	T	5: 99,370,897 (GRCm39)		probably benign	Het
Abcd3	A	G	3: 121,575,612 (GRCm39)	Y217H	probably damaging	Het
Abraxas1	A	T	5: 100,965,822 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,523,346 (GRCm39)	Y427C	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam10	T	A	9: 70,683,651 (GRCm39)		probably benign	Het
Adam24	G	A	8: 41,134,004 (GRCm39)	V491I	possibly damaging	Het
Adamts2	T	G	11: 50,647,524 (GRCm39)	V299G	probably damaging	Het
Adh7	A	G	3: 137,929,752 (GRCm39)	T143A	probably damaging	Het
Ahcyl1	A	G	3: 107,581,419 (GRCm39)	S81P	probably benign	Het
Arhgap20	C	A	9: 51,761,215 (GRCm39)	T986K	probably benign	Het
Atp13a5	A	T	16: 29,133,478 (GRCm39)	I391N	possibly damaging	Het
Atp6v0a1	C	A	11: 100,917,511 (GRCm39)	A143E	probably benign	Het
Calcrl	A	G	2: 84,181,629 (GRCm39)	I173T	probably damaging	Het
Casz1	A	G	4: 149,017,394 (GRCm39)	T228A	probably benign	Het
Cckar	A	G	5: 53,857,321 (GRCm39)	I292T	probably damaging	Het
Ccn5	G	A	2: 163,670,906 (GRCm39)	V138M	probably damaging	Het
Cfhr2	T	A	1: 139,786,383 (GRCm39)		probably null	Het
Chkb	T	C	15: 89,313,260 (GRCm39)	I109V	possibly damaging	Het
Clec2i	T	C	6: 128,865,069 (GRCm39)		probably null	Het
Clec4a4	T	A	6: 123,000,934 (GRCm39)	W216R	probably damaging	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cp	C	A	3: 20,011,549 (GRCm39)	D34E	possibly damaging	Het
Cse1l	T	C	2: 166,782,044 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,394,357 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,616,382 (GRCm39)	V1193A	probably benign	Het
Eaf2	A	G	16: 36,630,832 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,611,765 (GRCm39)	S536T	probably benign	Het
Ephb2	T	C	4: 136,421,136 (GRCm39)	T405A	possibly damaging	Het
Fam117a	G	A	11: 95,269,779 (GRCm39)	V348M	probably damaging	Het
Fh1	T	C	1: 175,428,990 (GRCm39)	*167W	probably null	Het
Fmo9	T	A	1: 166,490,868 (GRCm39)	I486F	probably benign	Het
Gabbr1	T	A	17: 37,365,771 (GRCm39)	I150N	probably damaging	Het
Gfpt1	T	C	6: 87,054,179 (GRCm39)	V478A	possibly damaging	Het
Gm2663	A	T	6: 40,974,894 (GRCm39)	V59E	probably damaging	Het
Gm4868	T	A	5: 125,925,176 (GRCm39)		noncoding transcript	Het
Heatr4	T	A	12: 84,026,934 (GRCm39)	T108S	probably benign	Het
Hells	G	T	19: 38,935,286 (GRCm39)	A319S	probably benign	Het
Helz2	A	G	2: 180,876,780 (GRCm39)	V1238A	probably benign	Het
Helz2	T	A	2: 180,880,252 (GRCm39)	Q488L	possibly damaging	Het
Hkdc1	A	G	10: 62,227,162 (GRCm39)	F765S	probably damaging	Het
Hspg2	T	A	4: 137,245,820 (GRCm39)	W938R	probably damaging	Het
Kctd1	C	T	18: 15,194,839 (GRCm39)	V595I	probably benign	Het
Krt7	A	G	15: 101,321,290 (GRCm39)	Y369C	probably damaging	Het
Krt72	T	C	15: 101,689,364 (GRCm39)	T323A	probably benign	Het
Krt76	A	G	15: 101,801,122 (GRCm39)	L58P	unknown	Het
Liph	C	A	16: 21,786,800 (GRCm39)	R272L	probably benign	Het
Lrrc9	A	T	12: 72,502,772 (GRCm39)	K248*	probably null	Het
Mei4	T	A	9: 81,809,195 (GRCm39)	S93T	probably damaging	Het
Mgll	T	A	6: 88,790,930 (GRCm39)	Y183*	probably null	Het
Myo5b	A	G	18: 74,875,218 (GRCm39)	M1541V	probably benign	Het
Napg	A	G	18: 63,115,762 (GRCm39)	E66G	probably benign	Het
Npr3	T	C	15: 11,851,572 (GRCm39)	D406G	probably damaging	Het
Nr2c2	A	G	6: 92,136,224 (GRCm39)	T355A	possibly damaging	Het
Or13j1	G	A	4: 43,706,041 (GRCm39)	H176Y	probably damaging	Het
Or4a71	A	T	2: 89,357,989 (GRCm39)	I255K	probably benign	Het
Or51m1	G	T	7: 103,578,668 (GRCm39)	V213L	probably benign	Het
Or51v8	A	G	7: 103,319,845 (GRCm39)	I131T	probably benign	Het
Or52z13	A	T	7: 103,247,107 (GRCm39)	I195F	probably damaging	Het
Or5b107	T	C	19: 13,142,404 (GRCm39)	Y9H	probably benign	Het
Or8d1	A	G	9: 38,766,846 (GRCm39)	M163V	possibly damaging	Het
Orai2	T	C	5: 136,179,793 (GRCm39)	E80G	probably damaging	Het
Pcdhb14	T	A	18: 37,582,535 (GRCm39)	V547E	probably damaging	Het
Pcdhb15	T	C	18: 37,609,084 (GRCm39)	I772T	possibly damaging	Het
Pcnt	T	C	10: 76,244,630 (GRCm39)	Q1150R	probably damaging	Het
Pdcd6	A	G	13: 74,453,700 (GRCm39)	I146T	probably damaging	Het
Phldb2	T	A	16: 45,621,988 (GRCm39)	D664V	probably damaging	Het
Pik3ap1	A	T	19: 41,320,673 (GRCm39)	V182E	probably damaging	Het
Pip4k2a	A	G	2: 18,852,433 (GRCm39)	V283A	probably benign	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Pnpla6	T	C	8: 3,591,404 (GRCm39)	W1151R	probably damaging	Het
Ppp1r14c	A	G	10: 3,316,890 (GRCm39)	Y75C	probably damaging	Het
Prl2b1	C	T	13: 27,567,452 (GRCm39)	D224N	probably benign	Het
Ptgis	A	G	2: 167,056,778 (GRCm39)	S270P	probably benign	Het
Rgs11	C	A	17: 26,429,640 (GRCm39)	A446D	probably damaging	Het
Rims2	A	G	15: 39,545,098 (GRCm39)	T1531A	probably damaging	Het
Sbno1	A	T	5: 124,526,580 (GRCm39)		probably benign	Het
Scarb2	C	G	5: 92,596,416 (GRCm39)	M409I	probably benign	Het
Scube3	C	T	17: 28,387,353 (GRCm39)		probably benign	Het
Slc44a4	T	C	17: 35,140,901 (GRCm39)	I180T	probably damaging	Het
Slc9a2	T	C	1: 40,781,803 (GRCm39)	M344T	probably damaging	Het
Smc3	A	T	19: 53,627,800 (GRCm39)	T860S	probably benign	Het
Snrpa	A	G	7: 26,891,174 (GRCm39)	I99T	probably benign	Het
Sorcs1	A	G	19: 50,163,481 (GRCm39)		probably benign	Het
Sorl1	C	T	9: 41,902,778 (GRCm39)		probably null	Het
Suds3	T	C	5: 117,243,309 (GRCm39)	K143R	probably benign	Het
Supt20	A	T	3: 54,622,164 (GRCm39)	M424L	probably benign	Het
Tgtp2	T	C	11: 48,949,751 (GRCm39)	M274V	probably benign	Het
Tmem158	T	A	9: 123,088,974 (GRCm39)	M213L	probably benign	Het
Tnks	C	A	8: 35,324,672 (GRCm39)	R639L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt10c	A	C	16: 55,854,938 (GRCm39)	N232K	possibly damaging	Het
Trpm6	C	T	19: 18,833,581 (GRCm39)	R1587W	probably damaging	Het
Trrap	G	A	5: 144,765,400 (GRCm39)	V2539I	probably benign	Het
Tsg101	A	G	7: 46,556,835 (GRCm39)	S115P	probably benign	Het
Ttll13	G	T	7: 79,910,256 (GRCm39)	V800L	probably benign	Het
Vmn1r57	A	G	7: 5,223,576 (GRCm39)	T34A	possibly damaging	Het
Vmn2r118	T	A	17: 55,918,530 (GRCm39)	T121S	probably benign	Het
Wdr35	A	G	12: 9,035,772 (GRCm39)	I238M	possibly damaging	Het
Zfp81	T	A	17: 33,554,080 (GRCm39)	T245S	probably benign	Het
Zfyve26	G	T	12: 79,325,237 (GRCm39)	P824Q	probably damaging	Het

Other mutations in Itpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Itpr2	APN	6	146,298,510 (GRCm39)	missense	probably damaging	0.99
IGL00163:Itpr2	APN	6	146,292,334 (GRCm39)	missense	possibly damaging	0.88
IGL00229:Itpr2	APN	6	146,045,683 (GRCm39)	missense	probably damaging	1.00
IGL00712:Itpr2	APN	6	146,133,934 (GRCm39)	missense	possibly damaging	0.63
IGL00952:Itpr2	APN	6	146,060,459 (GRCm39)	missense	probably damaging	1.00
IGL00983:Itpr2	APN	6	146,212,479 (GRCm39)	splice site	probably benign
IGL01012:Itpr2	APN	6	146,246,659 (GRCm39)	missense	probably damaging	1.00
IGL01289:Itpr2	APN	6	146,014,033 (GRCm39)	nonsense	probably null
IGL01411:Itpr2	APN	6	146,277,560 (GRCm39)	critical splice donor site	probably null
IGL01557:Itpr2	APN	6	146,060,474 (GRCm39)	missense	probably damaging	0.99
IGL01669:Itpr2	APN	6	146,081,727 (GRCm39)	missense	probably damaging	1.00
IGL01809:Itpr2	APN	6	146,129,079 (GRCm39)	missense	probably damaging	1.00
IGL01814:Itpr2	APN	6	146,134,044 (GRCm39)	missense	probably benign	0.02
IGL02198:Itpr2	APN	6	146,224,725 (GRCm39)	missense	probably damaging	1.00
IGL02218:Itpr2	APN	6	146,141,760 (GRCm39)	splice site	probably benign
IGL02332:Itpr2	APN	6	146,328,040 (GRCm39)	missense	probably damaging	1.00
IGL02425:Itpr2	APN	6	146,292,819 (GRCm39)	missense	probably damaging	0.99
IGL02432:Itpr2	APN	6	146,226,671 (GRCm39)	missense	probably benign	0.05
IGL02726:Itpr2	APN	6	146,277,419 (GRCm39)	missense	probably benign	0.18
IGL02851:Itpr2	APN	6	146,287,477 (GRCm39)	missense	probably damaging	0.99
IGL02933:Itpr2	APN	6	146,214,402 (GRCm39)	missense	probably benign
IGL03015:Itpr2	APN	6	146,277,435 (GRCm39)	missense	probably benign
IGL03067:Itpr2	APN	6	146,226,680 (GRCm39)	missense	probably damaging	1.00
IGL03093:Itpr2	APN	6	146,281,008 (GRCm39)	missense	probably damaging	1.00
IGL03214:Itpr2	APN	6	146,081,742 (GRCm39)	missense	probably benign	0.02
IGL03275:Itpr2	APN	6	146,060,375 (GRCm39)	splice site	probably benign
IGL03332:Itpr2	APN	6	146,045,647 (GRCm39)	missense	probably damaging	0.98
IGL03352:Itpr2	APN	6	146,058,602 (GRCm39)	missense	probably damaging	1.00
IGL03377:Itpr2	APN	6	146,231,256 (GRCm39)	missense	probably benign
IGL03377:Itpr2	APN	6	146,231,213 (GRCm39)	missense	probably damaging	0.96
dollar_short	UTSW	6	146,298,517 (GRCm39)	nonsense	probably null
enfermos	UTSW	6	146,135,504 (GRCm39)	missense	probably damaging	0.98
Hopla	UTSW	6	146,096,096 (GRCm39)	missense	probably damaging	0.98
P0029:Itpr2	UTSW	6	146,280,987 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Itpr2	UTSW	6	146,256,218 (GRCm39)	missense	probably benign
PIT4453001:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Itpr2	UTSW	6	146,131,369 (GRCm39)	missense	probably damaging	0.99
R0040:Itpr2	UTSW	6	146,246,638 (GRCm39)	missense	probably damaging	1.00
R0040:Itpr2	UTSW	6	146,246,638 (GRCm39)	missense	probably damaging	1.00
R0048:Itpr2	UTSW	6	146,133,789 (GRCm39)	splice site	probably null
R0048:Itpr2	UTSW	6	146,133,789 (GRCm39)	splice site	probably null
R0055:Itpr2	UTSW	6	146,224,631 (GRCm39)	missense	probably benign	0.42
R0055:Itpr2	UTSW	6	146,224,631 (GRCm39)	missense	probably benign	0.42
R0088:Itpr2	UTSW	6	146,142,683 (GRCm39)	missense	probably benign
R0089:Itpr2	UTSW	6	146,251,520 (GRCm39)	critical splice donor site	probably null
R0114:Itpr2	UTSW	6	146,214,377 (GRCm39)	missense	probably damaging	1.00
R0125:Itpr2	UTSW	6	146,141,951 (GRCm39)	missense	probably benign	0.00
R0144:Itpr2	UTSW	6	146,228,653 (GRCm39)	missense	probably damaging	0.98
R0180:Itpr2	UTSW	6	146,403,407 (GRCm39)	start gained	probably benign
R0211:Itpr2	UTSW	6	146,096,111 (GRCm39)	missense	probably benign	0.17
R0305:Itpr2	UTSW	6	146,212,601 (GRCm39)	missense	possibly damaging	0.63
R0367:Itpr2	UTSW	6	146,135,506 (GRCm39)	missense	probably damaging	1.00
R0374:Itpr2	UTSW	6	146,260,890 (GRCm39)	missense	probably benign	0.00
R0391:Itpr2	UTSW	6	146,131,271 (GRCm39)	missense	probably damaging	1.00
R0450:Itpr2	UTSW	6	146,319,477 (GRCm39)	missense	possibly damaging	0.66
R0464:Itpr2	UTSW	6	146,277,387 (GRCm39)	missense	probably damaging	1.00
R0510:Itpr2	UTSW	6	146,319,477 (GRCm39)	missense	possibly damaging	0.66
R0532:Itpr2	UTSW	6	146,013,898 (GRCm39)	missense	probably damaging	1.00
R0625:Itpr2	UTSW	6	146,068,149 (GRCm39)	missense	probably benign
R0633:Itpr2	UTSW	6	146,275,954 (GRCm39)	missense	probably damaging	1.00
R0636:Itpr2	UTSW	6	146,072,910 (GRCm39)	missense	probably damaging	1.00
R1086:Itpr2	UTSW	6	146,251,543 (GRCm39)	missense	probably damaging	1.00
R1352:Itpr2	UTSW	6	146,013,240 (GRCm39)	missense	probably damaging	1.00
R1631:Itpr2	UTSW	6	146,081,788 (GRCm39)	missense	probably damaging	1.00
R1655:Itpr2	UTSW	6	146,277,646 (GRCm39)	missense	probably damaging	1.00
R1767:Itpr2	UTSW	6	146,251,566 (GRCm39)	missense	possibly damaging	0.91
R1796:Itpr2	UTSW	6	146,198,171 (GRCm39)	missense	probably benign
R1815:Itpr2	UTSW	6	146,260,914 (GRCm39)	missense	probably benign	0.08
R1827:Itpr2	UTSW	6	146,229,830 (GRCm39)	missense	probably damaging	1.00
R1828:Itpr2	UTSW	6	146,229,830 (GRCm39)	missense	probably damaging	1.00
R1884:Itpr2	UTSW	6	146,287,469 (GRCm39)	missense	probably benign	0.16
R1902:Itpr2	UTSW	6	146,131,201 (GRCm39)	missense	probably damaging	1.00
R1931:Itpr2	UTSW	6	146,141,852 (GRCm39)	missense	probably benign	0.41
R1964:Itpr2	UTSW	6	146,013,191 (GRCm39)	missense	probably damaging	1.00
R2010:Itpr2	UTSW	6	146,129,022 (GRCm39)	splice site	probably null
R2168:Itpr2	UTSW	6	146,013,176 (GRCm39)	missense	probably benign	0.05
R2179:Itpr2	UTSW	6	146,277,464 (GRCm39)	missense	probably benign
R2290:Itpr2	UTSW	6	146,324,326 (GRCm39)	missense	probably damaging	1.00
R2874:Itpr2	UTSW	6	146,327,996 (GRCm39)	missense	possibly damaging	0.73
R2888:Itpr2	UTSW	6	146,072,791 (GRCm39)	missense	probably damaging	1.00
R2897:Itpr2	UTSW	6	146,224,667 (GRCm39)	missense	probably damaging	1.00
R2897:Itpr2	UTSW	6	146,074,839 (GRCm39)	missense	probably benign	0.03
R2898:Itpr2	UTSW	6	146,224,667 (GRCm39)	missense	probably damaging	1.00
R2898:Itpr2	UTSW	6	146,074,839 (GRCm39)	missense	probably benign	0.03
R3024:Itpr2	UTSW	6	146,081,808 (GRCm39)	missense	probably benign	0.35
R3104:Itpr2	UTSW	6	146,214,335 (GRCm39)	critical splice donor site	probably null
R3607:Itpr2	UTSW	6	146,129,099 (GRCm39)	missense	probably damaging	0.98
R3732:Itpr2	UTSW	6	146,284,198 (GRCm39)	missense	probably damaging	1.00
R3732:Itpr2	UTSW	6	146,284,198 (GRCm39)	missense	probably damaging	1.00
R3733:Itpr2	UTSW	6	146,284,198 (GRCm39)	missense	probably damaging	1.00
R3792:Itpr2	UTSW	6	146,316,852 (GRCm39)	missense	probably damaging	1.00
R3806:Itpr2	UTSW	6	146,133,789 (GRCm39)	splice site	probably null
R3821:Itpr2	UTSW	6	146,319,224 (GRCm39)	missense	probably damaging	1.00
R3929:Itpr2	UTSW	6	146,275,857 (GRCm39)	splice site	probably null
R3958:Itpr2	UTSW	6	146,327,008 (GRCm39)	missense	probably damaging	0.97
R3959:Itpr2	UTSW	6	146,327,008 (GRCm39)	missense	probably damaging	0.97
R3960:Itpr2	UTSW	6	146,131,262 (GRCm39)	missense	probably damaging	1.00
R3960:Itpr2	UTSW	6	146,327,008 (GRCm39)	missense	probably damaging	0.97
R4074:Itpr2	UTSW	6	146,274,742 (GRCm39)	splice site	probably null
R4085:Itpr2	UTSW	6	146,045,746 (GRCm39)	missense	probably damaging	1.00
R4114:Itpr2	UTSW	6	146,327,008 (GRCm39)	missense	probably damaging	0.97
R4115:Itpr2	UTSW	6	146,327,008 (GRCm39)	missense	probably damaging	0.97
R4588:Itpr2	UTSW	6	146,142,694 (GRCm39)	missense	probably benign	0.33
R4663:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
R4673:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
R4684:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
R4686:Itpr2	UTSW	6	146,131,273 (GRCm39)	missense	probably damaging	1.00
R4713:Itpr2	UTSW	6	146,298,456 (GRCm39)	missense	probably damaging	1.00
R4713:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
R4729:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
R4732:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
R4733:Itpr2	UTSW	6	146,274,671 (GRCm39)	missense	probably damaging	1.00
R4801:Itpr2	UTSW	6	146,272,829 (GRCm39)	missense	probably damaging	1.00
R4802:Itpr2	UTSW	6	146,272,829 (GRCm39)	missense	probably damaging	1.00
R4877:Itpr2	UTSW	6	146,226,703 (GRCm39)	missense	probably damaging	1.00
R4970:Itpr2	UTSW	6	146,135,489 (GRCm39)	missense	possibly damaging	0.95
R4986:Itpr2	UTSW	6	146,141,840 (GRCm39)	missense	probably damaging	0.96
R5112:Itpr2	UTSW	6	146,135,489 (GRCm39)	missense	possibly damaging	0.95
R5200:Itpr2	UTSW	6	146,045,605 (GRCm39)	critical splice donor site	probably null
R5224:Itpr2	UTSW	6	146,068,149 (GRCm39)	missense	probably benign
R5243:Itpr2	UTSW	6	146,089,044 (GRCm39)	missense	probably damaging	1.00
R5348:Itpr2	UTSW	6	146,378,191 (GRCm39)	missense	possibly damaging	0.78
R5393:Itpr2	UTSW	6	146,277,653 (GRCm39)	nonsense	probably null
R5552:Itpr2	UTSW	6	146,195,578 (GRCm39)	missense	probably benign
R5579:Itpr2	UTSW	6	146,074,864 (GRCm39)	nonsense	probably null
R5744:Itpr2	UTSW	6	146,277,649 (GRCm39)	missense	probably damaging	1.00
R5825:Itpr2	UTSW	6	146,045,647 (GRCm39)	missense	probably damaging	0.98
R5910:Itpr2	UTSW	6	146,231,069 (GRCm39)	missense	probably benign	0.10
R5911:Itpr2	UTSW	6	146,214,441 (GRCm39)	missense	probably benign	0.42
R6044:Itpr2	UTSW	6	146,298,449 (GRCm39)	missense	probably null	0.98
R6072:Itpr2	UTSW	6	146,248,609 (GRCm39)	missense	probably damaging	0.98
R6191:Itpr2	UTSW	6	146,229,833 (GRCm39)	missense	probably benign	0.01
R6483:Itpr2	UTSW	6	146,013,975 (GRCm39)	missense	possibly damaging	0.52
R6511:Itpr2	UTSW	6	146,231,225 (GRCm39)	missense	probably damaging	1.00
R6524:Itpr2	UTSW	6	146,246,709 (GRCm39)	missense	probably benign	0.01
R6561:Itpr2	UTSW	6	146,135,504 (GRCm39)	missense	probably damaging	0.98
R6594:Itpr2	UTSW	6	146,091,978 (GRCm39)	missense	possibly damaging	0.71
R6603:Itpr2	UTSW	6	146,248,669 (GRCm39)	missense	probably damaging	0.98
R6736:Itpr2	UTSW	6	146,226,668 (GRCm39)	missense	probably damaging	1.00
R6783:Itpr2	UTSW	6	146,287,371 (GRCm39)	critical splice donor site	probably null
R6831:Itpr2	UTSW	6	146,013,927 (GRCm39)	missense	probably damaging	1.00
R6857:Itpr2	UTSW	6	146,298,517 (GRCm39)	nonsense	probably null
R7103:Itpr2	UTSW	6	146,226,572 (GRCm39)	missense	probably damaging	1.00
R7111:Itpr2	UTSW	6	146,226,554 (GRCm39)	missense	probably damaging	1.00
R7126:Itpr2	UTSW	6	146,259,294 (GRCm39)	nonsense	probably null
R7165:Itpr2	UTSW	6	146,195,589 (GRCm39)	missense	probably damaging	1.00
R7184:Itpr2	UTSW	6	146,212,585 (GRCm39)	missense	possibly damaging	0.79
R7249:Itpr2	UTSW	6	146,212,550 (GRCm39)	missense	probably damaging	1.00
R7292:Itpr2	UTSW	6	146,060,447 (GRCm39)	missense	possibly damaging	0.95
R7342:Itpr2	UTSW	6	146,228,685 (GRCm39)	missense	probably damaging	0.98
R7392:Itpr2	UTSW	6	146,260,838 (GRCm39)	missense	possibly damaging	0.95
R7414:Itpr2	UTSW	6	146,274,706 (GRCm39)	missense	probably benign	0.06
R7448:Itpr2	UTSW	6	146,231,006 (GRCm39)	missense	probably damaging	1.00
R7492:Itpr2	UTSW	6	146,292,436 (GRCm39)	missense	probably damaging	1.00
R7515:Itpr2	UTSW	6	146,228,608 (GRCm39)	missense	probably damaging	1.00
R7529:Itpr2	UTSW	6	146,096,096 (GRCm39)	missense	probably damaging	0.98
R7558:Itpr2	UTSW	6	146,292,363 (GRCm39)	missense	probably damaging	1.00
R7650:Itpr2	UTSW	6	146,135,492 (GRCm39)	missense	probably benign	0.36
R7678:Itpr2	UTSW	6	146,089,048 (GRCm39)	missense	probably benign	0.00
R7790:Itpr2	UTSW	6	146,126,274 (GRCm39)	missense	probably damaging	1.00
R7798:Itpr2	UTSW	6	146,287,513 (GRCm39)	missense	probably benign	0.06
R7831:Itpr2	UTSW	6	146,193,082 (GRCm39)	missense	probably benign	0.04
R8023:Itpr2	UTSW	6	146,088,988 (GRCm39)	missense	probably damaging	0.97
R8046:Itpr2	UTSW	6	146,327,957 (GRCm39)	missense	probably damaging	0.96
R8236:Itpr2	UTSW	6	146,292,281 (GRCm39)	critical splice donor site	probably null
R8241:Itpr2	UTSW	6	146,320,013 (GRCm39)	missense	possibly damaging	0.90
R8245:Itpr2	UTSW	6	146,274,604 (GRCm39)	missense	probably damaging	0.98
R8324:Itpr2	UTSW	6	146,229,896 (GRCm39)	missense	probably damaging	0.97
R8339:Itpr2	UTSW	6	146,214,396 (GRCm39)	missense	probably benign	0.19
R8458:Itpr2	UTSW	6	146,135,464 (GRCm39)	missense	possibly damaging	0.62
R8506:Itpr2	UTSW	6	146,319,914 (GRCm39)	critical splice donor site	probably null
R8529:Itpr2	UTSW	6	146,231,051 (GRCm39)	missense	probably damaging	1.00
R8672:Itpr2	UTSW	6	146,276,016 (GRCm39)	missense	probably damaging	1.00
R8755:Itpr2	UTSW	6	146,133,926 (GRCm39)	missense	probably benign
R8816:Itpr2	UTSW	6	146,142,710 (GRCm39)	missense	probably damaging	0.98
R9160:Itpr2	UTSW	6	146,276,099 (GRCm39)	missense	probably damaging	1.00
R9273:Itpr2	UTSW	6	146,226,529 (GRCm39)	missense	probably damaging	1.00
R9284:Itpr2	UTSW	6	146,256,174 (GRCm39)	missense	probably benign	0.01
R9322:Itpr2	UTSW	6	146,226,587 (GRCm39)	missense	probably benign	0.19
R9357:Itpr2	UTSW	6	146,260,814 (GRCm39)	missense	probably damaging	1.00
R9424:Itpr2	UTSW	6	146,212,505 (GRCm39)	missense	probably damaging	0.98
R9438:Itpr2	UTSW	6	146,068,166 (GRCm39)	missense	probably benign
R9576:Itpr2	UTSW	6	146,212,505 (GRCm39)	missense	probably damaging	0.98
V8831:Itpr2	UTSW	6	146,287,380 (GRCm39)	missense	probably damaging	1.00
X0054:Itpr2	UTSW	6	146,224,734 (GRCm39)	missense	probably damaging	1.00
X0063:Itpr2	UTSW	6	146,081,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACGGCTACACTTTTAAGGCAAATG -3'
(R):5'- TCAGAAGCAGATTCTCCGATGTTCAC -3'

Sequencing Primer
(F):5'- ggcaggaggacagcaac -3'
(R):5'- CCGATGTTCACAATGGTGC -3'

Posted On

2014-05-23