Mutagenetix > Incidental Mutation

Incidental Mutation 'R8755:Itpr2'

664102

Institutional Source

Beutler Lab

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Ip3r2, Itpr5

MMRRC Submission

068596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146009797-146403721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146133926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1893 (C1893S)

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: C1893S

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

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: C1893S

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: C1860S

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

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: C1860S

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: ENSMUST00000203292

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,255,520 (GRCm39)	D86E	probably benign	Het
Akap3	A	G	6: 126,843,130 (GRCm39)	D583G	possibly damaging	Het
Alms1	T	A	6: 85,598,556 (GRCm39)	D1127E	probably benign	Het
Anks4b	T	A	7: 119,773,307 (GRCm39)		probably null	Het
Ano8	A	T	8: 71,935,724 (GRCm39)	F298Y	probably benign	Het
Arhgef2	C	A	3: 88,536,850 (GRCm39)	Q7K	probably benign	Het
Brd10	T	C	19: 29,693,890 (GRCm39)	I1868V	probably benign	Het
Cand2	T	C	6: 115,769,941 (GRCm39)	L917P	probably damaging	Het
Car8	T	C	4: 8,238,083 (GRCm39)	D44G	probably benign	Het
Cdk1	T	C	10: 69,176,435 (GRCm39)	N224S	probably benign	Het
Cep162	T	C	9: 87,114,064 (GRCm39)	E336G	probably benign	Het
Chd7	T	C	4: 8,866,069 (GRCm39)	M2792T	probably benign	Het
Cyp4f40	A	T	17: 32,886,957 (GRCm39)	K143*	probably null	Het
Cyth1	T	A	11: 118,074,768 (GRCm39)	M178L	probably benign	Het
Dcaf11	C	T	14: 55,798,023 (GRCm39)		probably benign	Het
Dlec1	T	G	9: 118,967,225 (GRCm39)	W1203G	probably damaging	Het
Fgd4	A	T	16: 16,302,133 (GRCm39)	S141T	probably benign	Het
Firrm	A	G	1: 163,786,895 (GRCm39)	S725P	probably damaging	Het
Flg2	T	A	3: 93,108,120 (GRCm39)	D49E	probably damaging	Het
Fyb2	T	A	4: 104,861,086 (GRCm39)	D647E	unknown	Het
Gstp1	T	C	19: 4,086,698 (GRCm39)	Y109C	probably damaging	Het
Gtf3c3	T	C	1: 54,468,031 (GRCm39)	E202G	probably benign	Het
Hephl1	A	G	9: 14,985,563 (GRCm39)	F698L	probably benign	Het
Hephl1	G	T	9: 15,023,280 (GRCm39)	P41T	probably damaging	Het
Hmcn1	T	A	1: 150,509,371 (GRCm39)	E3659V	probably benign	Het
Il27ra	A	T	8: 84,765,988 (GRCm39)	D229E	probably damaging	Het
Itih2	T	A	2: 10,103,369 (GRCm39)	D706V	probably damaging	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Laptm4b	A	G	15: 34,273,420 (GRCm39)	D111G	probably damaging	Het
Ldb3	T	A	14: 34,299,256 (GRCm39)	S123C	probably damaging	Het
Lgals12	C	T	19: 7,581,345 (GRCm39)	E121K	possibly damaging	Het
Mmp13	T	A	9: 7,277,996 (GRCm39)	S296R	possibly damaging	Het
Mpeg1	T	C	19: 12,439,238 (GRCm39)	F232S	probably damaging	Het
Ncapd2	A	T	6: 125,148,817 (GRCm39)	C990S	possibly damaging	Het
Nckap5	A	T	1: 125,954,279 (GRCm39)	C758S	possibly damaging	Het
Nwd1	A	T	8: 73,394,192 (GRCm39)	D485V	probably damaging	Het
Or13a21	T	G	7: 139,999,417 (GRCm39)	S90R	probably benign	Het
Or6c2	T	C	10: 129,362,332 (GRCm39)	F79L	possibly damaging	Het
Or8g50	T	A	9: 39,648,786 (GRCm39)	I225N	probably damaging	Het
Pcgf3	G	A	5: 108,634,108 (GRCm39)	R122Q	probably benign	Het
Pgm5	T	A	19: 24,812,212 (GRCm39)	I107F	probably damaging	Het
Pid1	G	T	1: 84,016,066 (GRCm39)	H114N	probably damaging	Het
Pkdrej	T	C	15: 85,703,807 (GRCm39)	T710A	probably benign	Het
Plpbp	T	A	8: 27,535,165 (GRCm39)		probably null	Het
Ppfibp2	T	G	7: 107,343,432 (GRCm39)	F824V	probably damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Psg17	T	A	7: 18,550,836 (GRCm39)	T340S	possibly damaging	Het
Pstpip2	T	C	18: 77,961,133 (GRCm39)	S239P	probably damaging	Het
Ralbp1	A	C	17: 66,166,036 (GRCm39)	S383A	possibly damaging	Het
Ranbp2	T	A	10: 58,300,969 (GRCm39)	L613*	probably null	Het
Rgs11	T	C	17: 26,422,346 (GRCm39)	V49A	probably damaging	Het
Ryr1	C	T	7: 28,791,693 (GRCm39)	V1404I	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Slc22a13	T	A	9: 119,038,126 (GRCm39)	M1L	probably damaging	Het
Slc5a1	A	T	5: 33,316,526 (GRCm39)	I591L	probably benign	Het
Tacr2	T	A	10: 62,088,733 (GRCm39)	V46E	possibly damaging	Het
Tet2	C	T	3: 133,194,039 (GRCm39)	G132S	probably damaging	Het
Thsd7a	G	A	6: 12,408,851 (GRCm39)	R724*	probably null	Het
Tmco3	A	T	8: 13,341,782 (GRCm39)	I19L	probably benign	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tpm1	A	T	9: 66,935,371 (GRCm39)	L248Q	probably benign	Het
Tprn	T	A	2: 25,154,027 (GRCm39)	I443N	probably benign	Het
Unc80	A	T	1: 66,651,290 (GRCm39)	H1545L	possibly damaging	Het
Vmn2r97	T	A	17: 19,168,104 (GRCm39)	M786K	probably damaging	Het
Wipi1	C	T	11: 109,494,645 (GRCm39)	V63M	probably damaging	Het
Zcchc4	G	A	5: 52,976,724 (GRCm39)	R506H	unknown	Het
Zfand6	A	T	7: 84,281,899 (GRCm39)	V110E	probably benign	Het
Zfp866	A	T	8: 70,219,381 (GRCm39)	Y80N	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
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
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
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'- TAAGGCCTCAGCATTTGCACAC -3'
(R):5'- TCGAATCCCTATGGCGGTTG -3'

Sequencing Primer
(F):5'- TTTGCACACACACAGAGATGTG -3'
(R):5'- CCTATGGCGGTTGGGTTTTTATTTTC -3'

Posted On

2021-03-08