Mutagenetix > Incidental Mutation

Incidental Mutation 'R0144:Itpr2'

22500

Institutional Source

Beutler Lab

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Ip3r2, Itpr5

MMRRC Submission

038429-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0144 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

146009797-146403721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146228653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1314 (Q1314L)

Ref Sequence

ENSEMBL: ENSMUSP00000049584 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053273
AA Change: Q1314L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: Q1314L

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

possibly damaging
Transcript: ENSMUST00000079573
AA Change: Q1281L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: Q1281L

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

0.7334

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,652,739 (GRCm39)		probably null	Het
Acp6	T	A	3: 97,073,145 (GRCm39)		probably benign	Het
AI661453	A	T	17: 47,780,224 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,109,233 (GRCm39)	I674V	probably benign	Het
Armc2	A	T	10: 41,823,883 (GRCm39)		probably benign	Het
Atp8b1	G	C	18: 64,704,445 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,737,839 (GRCm39)	N1823K	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Brca1	A	T	11: 101,416,947 (GRCm39)	S396T	probably damaging	Het
Btnl6	G	T	17: 34,732,994 (GRCm39)	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797 (GRCm39)	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,656,417 (GRCm39)	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Ceacam15	G	T	7: 16,407,116 (GRCm39)	H134N	probably benign	Het
Cep170	T	C	1: 176,620,161 (GRCm39)	I46V	probably benign	Het
Cfap57	T	C	4: 118,441,902 (GRCm39)	D722G	probably damaging	Het
Col11a1	A	T	3: 113,907,243 (GRCm39)	D628V	unknown	Het
Csmd1	A	T	8: 16,441,838 (GRCm39)	V342E	probably benign	Het
Dennd1a	A	G	2: 38,016,652 (GRCm39)	V64A	probably damaging	Het
Dlec1	G	T	9: 118,971,934 (GRCm39)	G1345V	probably benign	Het
Dnah1	G	A	14: 30,989,831 (GRCm39)		probably benign	Het
Dock5	C	T	14: 68,023,735 (GRCm39)	G1142D	probably benign	Het
Etv2	C	A	7: 30,334,308 (GRCm39)	A142S	probably benign	Het
Fam110c	C	A	12: 31,124,500 (GRCm39)	T154K	unknown	Het
Fbxo17	C	G	7: 28,434,765 (GRCm39)	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,170,964 (GRCm39)	W681R	probably damaging	Het
Fig4	A	G	10: 41,134,045 (GRCm39)	Y413H	probably damaging	Het
Gab1	A	G	8: 81,511,830 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,510,411 (GRCm39)	M1T	probably null	Het
H2-M10.6	G	A	17: 37,123,133 (GRCm39)	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,889,751 (GRCm39)	D2432G	probably damaging	Het
Il13	T	C	11: 53,524,003 (GRCm39)	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,401,668 (GRCm39)	L479P	probably damaging	Het
Jrk	C	T	15: 74,578,005 (GRCm39)	G427S	probably benign	Het
Kcnb1	T	G	2: 166,946,467 (GRCm39)	N794H	probably damaging	Het
Klhl8	A	T	5: 104,015,804 (GRCm39)	S361R	probably benign	Het
Krt87	T	C	15: 101,336,542 (GRCm39)	Y37C	probably benign	Het
Lbp	A	T	2: 158,161,630 (GRCm39)	S231C	probably damaging	Het
Lpin2	A	G	17: 71,532,071 (GRCm39)	E142G	probably damaging	Het
Lrch4	G	A	5: 137,636,805 (GRCm39)		probably null	Het
Lypd11	A	G	7: 24,423,015 (GRCm39)	V101A	possibly damaging	Het
Manea	A	G	4: 26,340,719 (GRCm39)	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,316,849 (GRCm39)	T618A	probably benign	Het
Me3	A	G	7: 89,389,080 (GRCm39)	D128G	probably damaging	Het
Mix23	A	T	16: 35,905,484 (GRCm39)	N92I	possibly damaging	Het
Mug2	A	G	6: 122,047,970 (GRCm39)		probably benign	Het
Myo9b	A	T	8: 71,798,687 (GRCm39)	Q901L	probably damaging	Het
Nalcn	T	C	14: 123,608,948 (GRCm39)	R640G	probably damaging	Het
Nalcn	C	T	14: 123,647,251 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,283,421 (GRCm39)	N422S	probably damaging	Het
Nf1	T	A	11: 79,437,953 (GRCm39)	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,315,162 (GRCm39)	A358T	probably damaging	Het
Or52s1	A	T	7: 102,861,747 (GRCm39)	I216F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p62	T	C	7: 107,771,178 (GRCm39)	I258V	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pld5	T	C	1: 175,798,107 (GRCm39)	N431D	probably benign	Het
Prss28	G	A	17: 25,528,424 (GRCm39)	V16M	probably damaging	Het
Psmd2	T	A	16: 20,480,975 (GRCm39)		probably null	Het
Ptpn21	A	T	12: 98,654,868 (GRCm39)	S700T	probably benign	Het
Rasa2	A	T	9: 96,474,072 (GRCm39)	V152D	probably damaging	Het
Reln	G	T	5: 22,153,447 (GRCm39)	R2286S	probably damaging	Het
Rflnb	G	T	11: 75,915,789 (GRCm39)	P102Q	probably damaging	Het
Rin2	G	A	2: 145,718,559 (GRCm39)	V680I	probably damaging	Het
Rnf213	A	T	11: 119,370,426 (GRCm39)	K4742*	probably null	Het
Rpp40	A	T	13: 36,085,352 (GRCm39)	S143T	probably benign	Het
Rps12	A	G	10: 23,662,689 (GRCm39)	I51T	probably benign	Het
Rsf1	T	A	7: 97,285,614 (GRCm39)	W109R	probably damaging	Het
Sipa1l2	C	T	8: 126,176,615 (GRCm39)		probably null	Het
Tspan5	G	T	3: 138,604,109 (GRCm39)	V165L	probably damaging	Het
Uts2r	T	A	11: 121,052,291 (GRCm39)	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231 (GRCm39)	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,440 (GRCm39)	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,665 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,655,671 (GRCm39)	K766R	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
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	146,131,262 (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'- AGGCAGGTTGTCATAAGGCACTTC -3'
(R):5'- TCACAAAGGTGTGCTCCTCTGCTC -3'

Sequencing Primer
(F):5'- GGGTAAACCTTATCAGTGCTTACG -3'
(R):5'- CAGCTCCTGGAGGCAGAAAC -3'

Posted On

2013-04-16