Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Itpr2'

590748

Institutional Source

Beutler Lab

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Ip3r2, Itpr5

MMRRC Submission

045727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146009797-146403721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146135492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1813 (R1813Q)

Ref Sequence

ENSEMBL: ENSMUSP00000049584 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053273
AA Change: R1813Q

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: R1813Q

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: R1780Q

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: R1780Q

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

0.1733

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,399,214 (GRCm39)	V3I	probably benign	Het
Adam33	T	C	2: 130,903,067 (GRCm39)	E59G	probably damaging	Het
Akap13	T	A	7: 75,293,202 (GRCm39)	V45E	probably benign	Het
Ap1s1	A	G	5: 137,074,387 (GRCm39)	S28P	probably benign	Het
Btnl2	T	C	17: 34,577,103 (GRCm39)	L86P	probably damaging	Het
Carm1	G	A	9: 21,491,668 (GRCm39)	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,196,036 (GRCm39)	D283N	probably benign	Het
Cfap58	C	A	19: 47,974,967 (GRCm39)	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,020,214 (GRCm39)	D195G	probably benign	Het
Dcaf1	A	G	9: 106,715,543 (GRCm39)	D220G	probably benign	Het
Ddias	C	T	7: 92,508,143 (GRCm39)	G591R	probably benign	Het
Defb22	A	T	2: 152,328,023 (GRCm39)	I54K	probably benign	Het
Dennd4b	G	A	3: 90,176,056 (GRCm39)	W202*	probably null	Het
F2	T	C	2: 91,458,741 (GRCm39)	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fanca	A	T	8: 123,995,303 (GRCm39)		probably null	Het
Fezf2	T	C	14: 12,342,653 (GRCm38)	H404R	probably damaging	Het
Fry	A	G	5: 150,336,883 (GRCm39)	N1418S	probably damaging	Het
Gak	A	G	5: 108,732,161 (GRCm39)	S776P	probably benign	Het
Gbf1	A	G	19: 46,260,978 (GRCm39)	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,327,925 (GRCm39)	E294K	probably benign	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm8206	T	C	14: 6,055,211 (GRCm38)		probably null	Het
Gpr162	T	A	6: 124,838,806 (GRCm39)		probably benign	Het
Gxylt1	C	T	15: 93,143,539 (GRCm39)	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,274,726 (GRCm39)	M396L	probably benign	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ice1	T	A	13: 70,753,602 (GRCm39)	Q828L	probably damaging	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Il10	A	T	1: 130,949,192 (GRCm39)	T118S	probably benign	Het
Kbtbd12	T	A	6: 88,595,530 (GRCm39)	Q100L	probably damaging	Het
Kin	A	G	2: 10,096,979 (GRCm39)	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,584,379 (GRCm39)	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,748,751 (GRCm39)	A2858T	unknown	Het
Krt8	G	A	15: 101,912,598 (GRCm39)	T26M	probably benign	Het
Lama3	T	A	18: 12,670,895 (GRCm39)	M827K	probably benign	Het
Lingo3	T	C	10: 80,671,597 (GRCm39)	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Metap1	A	G	3: 138,172,128 (GRCm39)	V263A	probably damaging	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Muc5ac	A	G	7: 141,363,159 (GRCm39)	T2157A	unknown	Het
Myo1d	G	T	11: 80,492,510 (GRCm39)	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,638,202 (GRCm39)	N419K	probably benign	Het
Nol10	T	C	12: 17,412,683 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,594,105 (GRCm39)	L284P	probably damaging	Het
Nrp1	T	A	8: 129,224,495 (GRCm39)	W753R	possibly damaging	Het
Obscn	A	G	11: 58,951,820 (GRCm39)	S3978P	probably benign	Het
Opa3	C	A	7: 18,978,896 (GRCm39)	N120K	probably benign	Het
Or5k17	T	A	16: 58,746,416 (GRCm39)	R173*	probably null	Het
Or8g53	A	T	9: 39,683,169 (GRCm39)	F309Y	probably benign	Het
Pabpc1l	T	C	2: 163,891,510 (GRCm39)	L576S	probably benign	Het
Panx3	A	G	9: 37,572,701 (GRCm39)	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,667 (GRCm39)	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,606,423 (GRCm39)		probably null	Het
Pkd1l3	T	C	8: 110,399,217 (GRCm39)	V2200A	probably benign	Het
Pkp3	G	A	7: 140,662,283 (GRCm39)	M112I	probably benign	Het
Prex2	T	C	1: 11,220,078 (GRCm39)	I683T	possibly damaging	Het
Psg22	C	A	7: 18,460,684 (GRCm39)	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,640,876 (GRCm39)	V56A	possibly damaging	Het
Pus7	G	T	5: 23,965,244 (GRCm39)	T304K	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Ros1	C	T	10: 51,922,305 (GRCm39)	G2277D	probably benign	Het
Rpain	A	T	11: 70,861,271 (GRCm39)		probably benign	Het
Shh	C	A	5: 28,663,304 (GRCm39)	S288I	probably benign	Het
Slc26a5	C	T	5: 22,039,328 (GRCm39)	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slit1	T	A	19: 41,618,363 (GRCm39)	N771I	probably damaging	Het
Stim1	T	A	7: 102,078,034 (GRCm39)	S179T		Het
Syk	A	G	13: 52,765,131 (GRCm39)	D86G	probably benign	Het
Tmem132b	T	G	5: 125,864,074 (GRCm39)	S727A	probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Trpm6	A	T	19: 18,853,377 (GRCm39)	D1799V	possibly damaging	Het
Ube4a	A	T	9: 44,844,734 (GRCm39)	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,228,831 (GRCm39)	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,843,568 (GRCm39)	Q290L	possibly damaging	Het
Vcl	T	A	14: 21,045,114 (GRCm39)	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,521,147 (GRCm39)	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,677,851 (GRCm39)	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,774,580 (GRCm39)	L31P	probably damaging	Het
Zfp536	C	A	7: 37,269,117 (GRCm39)	V100L	probably damaging	Het
Zfp942	A	T	17: 22,147,818 (GRCm39)	S270R	probably benign	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
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	146,327,008 (GRCm39)	missense	probably damaging	0.97
R3960:Itpr2	UTSW	6	146,131,262 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCACACTGGAAGCACAAGG -3'
(R):5'- CTGCGCATTAAATGGAATGAGAGAC -3'

Sequencing Primer
(F):5'- GACAATGACAAAGCTACATGAGATTC -3'
(R):5'- TTTTTGGAAAAAGCGCCGCAC -3'

Posted On

2019-10-24