Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Itpr2'

202623

Institutional Source

Beutler Lab

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Ip3r2, Itpr5

MMRRC Submission

039843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1815 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

146009797-146403721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146260914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 905 (I905F)

Ref Sequence

ENSEMBL: ENSMUSP00000078526 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053273
AA Change: I938F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: I938F

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 benign
Transcript: ENSMUST00000079573
AA Change: I905F

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: I905F

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
AA Change: I580F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121773
Gene: ENSMUSG00000030287
AA Change: I580F

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

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	possibly 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
R1779:Itpr2	UTSW	6	146,060,399 (GRCm39)	nonsense	probably null
R1796:Itpr2	UTSW	6	146,198,171 (GRCm39)	missense	probably benign
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'- TTCAGAATCATATCACACCGATAGC -3'
(R):5'- TGTGAAGGCTGCAGTCAAGTC -3'

Sequencing Primer
(F):5'- GGTATCATGCCTAACACCTGG -3'
(R):5'- AGGCTGCAGTCAAGTCCTCATTAG -3'

Posted On

2014-06-23