Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Itpr2'

31684

Institutional Source

Beutler Lab

Gene Symbol

Itpr2

Ensembl Gene

ENSMUSG00000030287

Gene Name

inositol 1,4,5-triphosphate receptor 2

Synonyms

Itpr5, Ip3r2

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146108299-146502223 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 146229773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 1978 (N1978H)

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: N1978H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049584
Gene: ENSMUSG00000030287
AA Change: N1978H

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 damaging
Transcript: ENSMUST00000079573
AA Change: N1945H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078526
Gene: ENSMUSG00000030287
AA Change: N1945H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204901

Meta Mutation Damage Score

0.3471

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177 (GRCm38)		probably benign	Het
Abcc2	G	A	19: 43,821,605 (GRCm38)		probably benign	Het
Abcc8	C	G	7: 46,122,173 (GRCm38)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200 (GRCm38)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277 (GRCm38)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842 (GRCm38)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921 (GRCm38)	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614 (GRCm38)		probably benign	Het
Catsperd	A	T	17: 56,662,821 (GRCm38)	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253 (GRCm38)		probably null	Het
Cfap100	C	T	6: 90,405,339 (GRCm38)		probably benign	Het
Chd1	G	T	17: 15,749,894 (GRCm38)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259 (GRCm38)		probably benign	Het
Col17a1	C	T	19: 47,663,824 (GRCm38)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725 (GRCm38)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775 (GRCm38)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573 (GRCm38)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm38)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506 (GRCm38)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169 (GRCm38)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214 (GRCm38)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916 (GRCm38)		probably benign	Het
Eci1	G	A	17: 24,433,260 (GRCm38)		probably null	Het
Efhc1	A	G	1: 20,960,188 (GRCm38)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178 (GRCm38)	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499 (GRCm38)		probably benign	Het
Ghrl	T	C	6: 113,719,338 (GRCm38)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101 (GRCm38)	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535 (GRCm38)		probably benign	Het
Ift172	A	G	5: 31,286,667 (GRCm38)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979 (GRCm38)		probably benign	Het
Il17rb	G	T	14: 30,006,155 (GRCm38)		probably null	Het
Il17rb	T	C	14: 30,004,347 (GRCm38)	N95D	probably benign	Het
Iqub	G	A	6: 24,446,155 (GRCm38)	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167 (GRCm38)	V473A	probably benign	Het
Klk1b26	T	A	7: 44,012,727 (GRCm38)	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363 (GRCm38)	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066 (GRCm38)	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314 (GRCm38)		probably benign	Het
Lrp2	G	A	2: 69,460,337 (GRCm38)		probably benign	Het
Lrp2	T	A	2: 69,456,858 (GRCm38)	D3745V	probably damaging	Het
Lvrn	A	T	18: 46,850,466 (GRCm38)	H92L	probably benign	Het
March1	A	G	8: 66,418,973 (GRCm38)	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534 (GRCm38)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416 (GRCm38)	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570 (GRCm38)		probably benign	Het
Mpp4	A	T	1: 59,143,829 (GRCm38)		probably benign	Het
Mrnip	G	A	11: 50,199,920 (GRCm38)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082 (GRCm38)	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507 (GRCm38)		probably benign	Het
Nbea	A	T	3: 56,037,277 (GRCm38)	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476 (GRCm38)		probably benign	Het
Nmur1	A	T	1: 86,387,678 (GRCm38)	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778 (GRCm38)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023 (GRCm38)	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842 (GRCm38)	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109 (GRCm38)	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400 (GRCm38)	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187 (GRCm38)	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668 (GRCm38)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573 (GRCm38)	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081 (GRCm38)	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775 (GRCm38)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714 (GRCm38)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697 (GRCm38)	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173 (GRCm38)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm38)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282 (GRCm38)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045 (GRCm38)		probably null	Het
Slc28a3	A	G	13: 58,569,415 (GRCm38)		probably benign	Het
Smad2	A	T	18: 76,289,037 (GRCm38)		probably null	Het
Smad4	G	A	18: 73,658,649 (GRCm38)	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154 (GRCm38)	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753 (GRCm38)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887 (GRCm38)	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418 (GRCm38)	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144 (GRCm38)	K680R	probably benign	Het
Stil	A	G	4: 115,041,172 (GRCm38)		probably null	Het
Sympk	T	A	7: 19,046,849 (GRCm38)	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546 (GRCm38)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm38)	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661 (GRCm38)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930 (GRCm38)		probably null	Het
Tshz1	A	G	18: 84,016,049 (GRCm38)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808 (GRCm38)	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401 (GRCm38)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832 (GRCm38)	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333 (GRCm38)		probably benign	Het
V1rd19	A	C	7: 24,003,585 (GRCm38)	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486 (GRCm38)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588 (GRCm38)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978 (GRCm38)	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579 (GRCm38)	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133 (GRCm38)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm38)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670 (GRCm38)	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451 (GRCm38)	N123K	possibly damaging	Het

Other mutations in Itpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Itpr2	APN	6	146,397,012 (GRCm38)	missense	probably damaging	0.99
IGL00163:Itpr2	APN	6	146,390,836 (GRCm38)	missense	possibly damaging	0.88
IGL00229:Itpr2	APN	6	146,144,185 (GRCm38)	missense	probably damaging	1.00
IGL00712:Itpr2	APN	6	146,232,436 (GRCm38)	missense	possibly damaging	0.63
IGL00952:Itpr2	APN	6	146,158,961 (GRCm38)	missense	probably damaging	1.00
IGL00983:Itpr2	APN	6	146,310,981 (GRCm38)	splice site	probably benign
IGL01012:Itpr2	APN	6	146,345,161 (GRCm38)	missense	probably damaging	1.00
IGL01289:Itpr2	APN	6	146,112,535 (GRCm38)	nonsense	probably null
IGL01411:Itpr2	APN	6	146,376,062 (GRCm38)	critical splice donor site	probably null
IGL01557:Itpr2	APN	6	146,158,976 (GRCm38)	missense	probably damaging	0.99
IGL01669:Itpr2	APN	6	146,180,229 (GRCm38)	missense	probably damaging	1.00
IGL01809:Itpr2	APN	6	146,227,581 (GRCm38)	missense	probably damaging	1.00
IGL01814:Itpr2	APN	6	146,232,546 (GRCm38)	missense	probably benign	0.02
IGL02198:Itpr2	APN	6	146,323,227 (GRCm38)	missense	probably damaging	1.00
IGL02218:Itpr2	APN	6	146,240,262 (GRCm38)	splice site	probably benign
IGL02332:Itpr2	APN	6	146,426,542 (GRCm38)	missense	probably damaging	1.00
IGL02425:Itpr2	APN	6	146,391,321 (GRCm38)	missense	probably damaging	0.99
IGL02432:Itpr2	APN	6	146,325,173 (GRCm38)	missense	probably benign	0.05
IGL02726:Itpr2	APN	6	146,375,921 (GRCm38)	missense	probably benign	0.18
IGL02851:Itpr2	APN	6	146,385,979 (GRCm38)	missense	probably damaging	0.99
IGL02933:Itpr2	APN	6	146,312,904 (GRCm38)	missense	probably benign
IGL03015:Itpr2	APN	6	146,375,937 (GRCm38)	missense	probably benign
IGL03067:Itpr2	APN	6	146,325,182 (GRCm38)	missense	probably damaging	1.00
IGL03093:Itpr2	APN	6	146,379,510 (GRCm38)	missense	probably damaging	1.00
IGL03214:Itpr2	APN	6	146,180,244 (GRCm38)	missense	probably benign	0.02
IGL03275:Itpr2	APN	6	146,158,877 (GRCm38)	splice site	probably benign
IGL03332:Itpr2	APN	6	146,144,149 (GRCm38)	missense	probably damaging	0.98
IGL03352:Itpr2	APN	6	146,157,104 (GRCm38)	missense	probably damaging	1.00
IGL03377:Itpr2	APN	6	146,329,758 (GRCm38)	missense	probably benign
IGL03377:Itpr2	APN	6	146,329,715 (GRCm38)	missense	probably damaging	0.96
dollar_short	UTSW	6	146,397,019 (GRCm38)	nonsense	probably null
enfermos	UTSW	6	146,234,006 (GRCm38)	missense	probably damaging	0.98
Hopla	UTSW	6	146,194,598 (GRCm38)	missense	probably damaging	0.98
P0029:Itpr2	UTSW	6	146,379,489 (GRCm38)	missense	probably damaging	1.00
PIT4431001:Itpr2	UTSW	6	146,354,720 (GRCm38)	missense	probably benign
PIT4453001:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
PIT4504001:Itpr2	UTSW	6	146,229,871 (GRCm38)	missense	probably damaging	0.99
R0040:Itpr2	UTSW	6	146,345,140 (GRCm38)	missense	probably damaging	1.00
R0040:Itpr2	UTSW	6	146,345,140 (GRCm38)	missense	probably damaging	1.00
R0048:Itpr2	UTSW	6	146,232,291 (GRCm38)	splice site	probably null
R0048:Itpr2	UTSW	6	146,232,291 (GRCm38)	splice site	probably null
R0055:Itpr2	UTSW	6	146,323,133 (GRCm38)	missense	probably benign	0.42
R0055:Itpr2	UTSW	6	146,323,133 (GRCm38)	missense	probably benign	0.42
R0088:Itpr2	UTSW	6	146,241,185 (GRCm38)	missense	probably benign
R0089:Itpr2	UTSW	6	146,350,022 (GRCm38)	critical splice donor site	probably null
R0114:Itpr2	UTSW	6	146,312,879 (GRCm38)	missense	probably damaging	1.00
R0125:Itpr2	UTSW	6	146,240,453 (GRCm38)	missense	probably benign	0.00
R0144:Itpr2	UTSW	6	146,327,155 (GRCm38)	missense	probably damaging	0.98
R0180:Itpr2	UTSW	6	146,501,909 (GRCm38)	start gained	probably benign
R0211:Itpr2	UTSW	6	146,194,613 (GRCm38)	missense	probably benign	0.17
R0305:Itpr2	UTSW	6	146,311,103 (GRCm38)	missense	possibly damaging	0.63
R0367:Itpr2	UTSW	6	146,234,008 (GRCm38)	missense	probably damaging	1.00
R0374:Itpr2	UTSW	6	146,359,392 (GRCm38)	missense	probably benign	0.00
R0450:Itpr2	UTSW	6	146,417,979 (GRCm38)	missense	possibly damaging	0.66
R0464:Itpr2	UTSW	6	146,375,889 (GRCm38)	missense	probably damaging	1.00
R0510:Itpr2	UTSW	6	146,417,979 (GRCm38)	missense	possibly damaging	0.66
R0532:Itpr2	UTSW	6	146,112,400 (GRCm38)	missense	probably damaging	1.00
R0625:Itpr2	UTSW	6	146,166,651 (GRCm38)	missense	probably benign
R0633:Itpr2	UTSW	6	146,374,456 (GRCm38)	missense	probably damaging	1.00
R0636:Itpr2	UTSW	6	146,171,412 (GRCm38)	missense	probably damaging	1.00
R1086:Itpr2	UTSW	6	146,350,045 (GRCm38)	missense	probably damaging	1.00
R1352:Itpr2	UTSW	6	146,111,742 (GRCm38)	missense	probably damaging	1.00
R1631:Itpr2	UTSW	6	146,180,290 (GRCm38)	missense	probably damaging	1.00
R1655:Itpr2	UTSW	6	146,376,148 (GRCm38)	missense	probably damaging	1.00
R1767:Itpr2	UTSW	6	146,350,068 (GRCm38)	missense	possibly damaging	0.91
R1779:Itpr2	UTSW	6	146,158,901 (GRCm38)	nonsense	probably null
R1796:Itpr2	UTSW	6	146,296,673 (GRCm38)	missense	probably benign
R1815:Itpr2	UTSW	6	146,359,416 (GRCm38)	missense	probably benign	0.08
R1827:Itpr2	UTSW	6	146,328,332 (GRCm38)	missense	probably damaging	1.00
R1828:Itpr2	UTSW	6	146,328,332 (GRCm38)	missense	probably damaging	1.00
R1884:Itpr2	UTSW	6	146,385,971 (GRCm38)	missense	probably benign	0.16
R1902:Itpr2	UTSW	6	146,229,703 (GRCm38)	missense	probably damaging	1.00
R1931:Itpr2	UTSW	6	146,240,354 (GRCm38)	missense	probably benign	0.41
R1964:Itpr2	UTSW	6	146,111,693 (GRCm38)	missense	probably damaging	1.00
R2010:Itpr2	UTSW	6	146,227,524 (GRCm38)	splice site	probably null
R2168:Itpr2	UTSW	6	146,111,678 (GRCm38)	missense	probably benign	0.05
R2179:Itpr2	UTSW	6	146,375,966 (GRCm38)	missense	probably benign
R2290:Itpr2	UTSW	6	146,422,828 (GRCm38)	missense	probably damaging	1.00
R2874:Itpr2	UTSW	6	146,426,498 (GRCm38)	missense	possibly damaging	0.73
R2888:Itpr2	UTSW	6	146,171,293 (GRCm38)	missense	probably damaging	1.00
R2897:Itpr2	UTSW	6	146,323,169 (GRCm38)	missense	probably damaging	1.00
R2897:Itpr2	UTSW	6	146,173,341 (GRCm38)	missense	probably benign	0.03
R2898:Itpr2	UTSW	6	146,323,169 (GRCm38)	missense	probably damaging	1.00
R2898:Itpr2	UTSW	6	146,173,341 (GRCm38)	missense	probably benign	0.03
R3024:Itpr2	UTSW	6	146,180,310 (GRCm38)	missense	probably benign	0.35
R3104:Itpr2	UTSW	6	146,312,837 (GRCm38)	critical splice donor site	probably null
R3607:Itpr2	UTSW	6	146,227,601 (GRCm38)	missense	probably damaging	0.98
R3732:Itpr2	UTSW	6	146,382,700 (GRCm38)	missense	probably damaging	1.00
R3732:Itpr2	UTSW	6	146,382,700 (GRCm38)	missense	probably damaging	1.00
R3733:Itpr2	UTSW	6	146,382,700 (GRCm38)	missense	probably damaging	1.00
R3792:Itpr2	UTSW	6	146,415,354 (GRCm38)	missense	probably damaging	1.00
R3806:Itpr2	UTSW	6	146,232,291 (GRCm38)	splice site	probably null
R3821:Itpr2	UTSW	6	146,417,726 (GRCm38)	missense	probably damaging	1.00
R3929:Itpr2	UTSW	6	146,374,359 (GRCm38)	splice site	probably null
R3958:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R3959:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R3960:Itpr2	UTSW	6	146,229,764 (GRCm38)	missense	probably damaging	1.00
R3960:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R4074:Itpr2	UTSW	6	146,373,244 (GRCm38)	splice site	probably null
R4085:Itpr2	UTSW	6	146,144,248 (GRCm38)	missense	probably damaging	1.00
R4114:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R4115:Itpr2	UTSW	6	146,425,510 (GRCm38)	missense	probably damaging	0.97
R4588:Itpr2	UTSW	6	146,241,196 (GRCm38)	missense	probably benign	0.33
R4663:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4673:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4684:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4686:Itpr2	UTSW	6	146,229,775 (GRCm38)	missense	probably damaging	1.00
R4713:Itpr2	UTSW	6	146,396,958 (GRCm38)	missense	probably damaging	1.00
R4713:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4729:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4732:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4733:Itpr2	UTSW	6	146,373,173 (GRCm38)	missense	probably damaging	1.00
R4801:Itpr2	UTSW	6	146,371,331 (GRCm38)	missense	probably damaging	1.00
R4802:Itpr2	UTSW	6	146,371,331 (GRCm38)	missense	probably damaging	1.00
R4877:Itpr2	UTSW	6	146,325,205 (GRCm38)	missense	probably damaging	1.00
R4970:Itpr2	UTSW	6	146,233,991 (GRCm38)	missense	possibly damaging	0.95
R4986:Itpr2	UTSW	6	146,240,342 (GRCm38)	missense	probably damaging	0.96
R5112:Itpr2	UTSW	6	146,233,991 (GRCm38)	missense	possibly damaging	0.95
R5200:Itpr2	UTSW	6	146,144,107 (GRCm38)	critical splice donor site	probably null
R5224:Itpr2	UTSW	6	146,166,651 (GRCm38)	missense	probably benign
R5243:Itpr2	UTSW	6	146,187,546 (GRCm38)	missense	probably damaging	1.00
R5348:Itpr2	UTSW	6	146,476,693 (GRCm38)	missense	possibly damaging	0.78
R5393:Itpr2	UTSW	6	146,376,155 (GRCm38)	nonsense	probably null
R5552:Itpr2	UTSW	6	146,294,080 (GRCm38)	missense	probably benign
R5579:Itpr2	UTSW	6	146,173,366 (GRCm38)	nonsense	probably null
R5744:Itpr2	UTSW	6	146,376,151 (GRCm38)	missense	probably damaging	1.00
R5825:Itpr2	UTSW	6	146,144,149 (GRCm38)	missense	probably damaging	0.98
R5910:Itpr2	UTSW	6	146,329,571 (GRCm38)	missense	probably benign	0.10
R5911:Itpr2	UTSW	6	146,312,943 (GRCm38)	missense	probably benign	0.42
R6044:Itpr2	UTSW	6	146,396,951 (GRCm38)	missense	probably null	0.98
R6072:Itpr2	UTSW	6	146,347,111 (GRCm38)	missense	probably damaging	0.98
R6191:Itpr2	UTSW	6	146,328,335 (GRCm38)	missense	probably benign	0.01
R6483:Itpr2	UTSW	6	146,112,477 (GRCm38)	missense	possibly damaging	0.52
R6511:Itpr2	UTSW	6	146,329,727 (GRCm38)	missense	probably damaging	1.00
R6524:Itpr2	UTSW	6	146,345,211 (GRCm38)	missense	probably benign	0.01
R6561:Itpr2	UTSW	6	146,234,006 (GRCm38)	missense	probably damaging	0.98
R6594:Itpr2	UTSW	6	146,190,480 (GRCm38)	missense	possibly damaging	0.71
R6603:Itpr2	UTSW	6	146,347,171 (GRCm38)	missense	probably damaging	0.98
R6736:Itpr2	UTSW	6	146,325,170 (GRCm38)	missense	probably damaging	1.00
R6783:Itpr2	UTSW	6	146,385,873 (GRCm38)	critical splice donor site	probably null
R6831:Itpr2	UTSW	6	146,112,429 (GRCm38)	missense	probably damaging	1.00
R6857:Itpr2	UTSW	6	146,397,019 (GRCm38)	nonsense	probably null
R7103:Itpr2	UTSW	6	146,325,074 (GRCm38)	missense	probably damaging	1.00
R7111:Itpr2	UTSW	6	146,325,056 (GRCm38)	missense	probably damaging	1.00
R7126:Itpr2	UTSW	6	146,357,796 (GRCm38)	nonsense	probably null
R7165:Itpr2	UTSW	6	146,294,091 (GRCm38)	missense	probably damaging	1.00
R7184:Itpr2	UTSW	6	146,311,087 (GRCm38)	missense	possibly damaging	0.79
R7249:Itpr2	UTSW	6	146,311,052 (GRCm38)	missense	probably damaging	1.00
R7292:Itpr2	UTSW	6	146,158,949 (GRCm38)	missense	possibly damaging	0.95
R7342:Itpr2	UTSW	6	146,327,187 (GRCm38)	missense	probably damaging	0.98
R7392:Itpr2	UTSW	6	146,359,340 (GRCm38)	missense	possibly damaging	0.95
R7414:Itpr2	UTSW	6	146,373,208 (GRCm38)	missense	probably benign	0.06
R7448:Itpr2	UTSW	6	146,329,508 (GRCm38)	missense	probably damaging	1.00
R7492:Itpr2	UTSW	6	146,390,938 (GRCm38)	missense	probably damaging	1.00
R7515:Itpr2	UTSW	6	146,327,110 (GRCm38)	missense	probably damaging	1.00
R7529:Itpr2	UTSW	6	146,194,598 (GRCm38)	missense	probably damaging	0.98
R7558:Itpr2	UTSW	6	146,390,865 (GRCm38)	missense	probably damaging	1.00
R7650:Itpr2	UTSW	6	146,233,994 (GRCm38)	missense	probably benign	0.36
R7678:Itpr2	UTSW	6	146,187,550 (GRCm38)	missense	probably benign	0.00
R7790:Itpr2	UTSW	6	146,224,776 (GRCm38)	missense	probably damaging	1.00
R7798:Itpr2	UTSW	6	146,386,015 (GRCm38)	missense	probably benign	0.06
R7831:Itpr2	UTSW	6	146,291,584 (GRCm38)	missense	probably benign	0.04
R8023:Itpr2	UTSW	6	146,187,490 (GRCm38)	missense	probably damaging	0.97
R8046:Itpr2	UTSW	6	146,426,459 (GRCm38)	missense	probably damaging	0.96
R8236:Itpr2	UTSW	6	146,390,783 (GRCm38)	critical splice donor site	probably null
R8241:Itpr2	UTSW	6	146,418,515 (GRCm38)	missense	possibly damaging	0.90
R8245:Itpr2	UTSW	6	146,373,106 (GRCm38)	missense	probably damaging	0.98
R8324:Itpr2	UTSW	6	146,328,398 (GRCm38)	missense	probably damaging	0.97
R8339:Itpr2	UTSW	6	146,312,898 (GRCm38)	missense	probably benign	0.19
R8458:Itpr2	UTSW	6	146,233,966 (GRCm38)	missense	possibly damaging	0.62
R8506:Itpr2	UTSW	6	146,418,416 (GRCm38)	critical splice donor site	probably null
R8529:Itpr2	UTSW	6	146,329,553 (GRCm38)	missense	probably damaging	1.00
R8672:Itpr2	UTSW	6	146,374,518 (GRCm38)	missense	probably damaging	1.00
R8755:Itpr2	UTSW	6	146,232,428 (GRCm38)	missense	probably benign
R8816:Itpr2	UTSW	6	146,241,212 (GRCm38)	missense	probably damaging	0.98
R9160:Itpr2	UTSW	6	146,374,601 (GRCm38)	missense	probably damaging	1.00
R9273:Itpr2	UTSW	6	146,325,031 (GRCm38)	missense	probably damaging	1.00
R9284:Itpr2	UTSW	6	146,354,676 (GRCm38)	missense	probably benign	0.01
R9322:Itpr2	UTSW	6	146,325,089 (GRCm38)	missense	probably benign	0.19
R9357:Itpr2	UTSW	6	146,359,316 (GRCm38)	missense	probably damaging	1.00
R9424:Itpr2	UTSW	6	146,311,007 (GRCm38)	missense	probably damaging	0.98
R9438:Itpr2	UTSW	6	146,166,668 (GRCm38)	missense	probably benign
R9576:Itpr2	UTSW	6	146,311,007 (GRCm38)	missense	probably damaging	0.98
V8831:Itpr2	UTSW	6	146,385,882 (GRCm38)	missense	probably damaging	1.00
X0054:Itpr2	UTSW	6	146,323,236 (GRCm38)	missense	probably damaging	1.00
X0063:Itpr2	UTSW	6	146,180,353 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCTTTGAGAAAAGCAGCCACACC -3'
(R):5'- GAAGCTAAACCTGACCCTTTTCCCC -3'

Sequencing Primer
(F):5'- CAGAACAAGCAACGAGGC -3'
(R):5'- CCCCGTGTTTTGCTTTCAG -3'

Posted On

2013-04-24