Mutagenetix > Incidental Mutations

Incidental Mutation 'R2878:Itpripl1'

260163

Institutional Source

Beutler Lab

Gene Symbol

Itpripl1

Ensembl Gene

ENSMUSG00000074825

Gene Name

inositol 1,4,5-triphosphate receptor interacting protein-like 1

Synonyms

MMRRC Submission

040466-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127138772-127143442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127141614 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 196 (V196A)

Ref Sequence

ENSEMBL: ENSMUSP00000122289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110386] [ENSMUST00000132773] [ENSMUST00000154021]

Predicted Effect

probably benign
Transcript: ENSMUST00000110386
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106016
Gene: ENSMUSG00000074825
AA Change: V196A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
Mab-21	214	533	1.66e-66	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000132773
AA Change: C114R

SMART Domains

Protein: ENSMUSP00000118487
Gene: ENSMUSG00000074825
AA Change: C114R

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154021
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122289
Gene: ENSMUSG00000074825
AA Change: V196A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
Mab-21	214	533	1.66e-66	SMART

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,291,889	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,859,410	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,750,454	F404L	probably benign	Het
Akr1c20	G	A	13: 4,507,775	T251M	probably damaging	Het
Amph	G	A	13: 19,104,267	V309I	possibly damaging	Het
Ano2	T	G	6: 125,863,518	F384C	probably damaging	Het
Aplf	G	A	6: 87,668,427	R32*	probably null	Het
Arhgef18	A	G	8: 3,432,759	M155V	probably benign	Het
Atg2b	A	T	12: 105,664,009	Y374*	probably null	Het
Camkmt	T	C	17: 85,431,551		probably benign	Het
Capn2	T	A	1: 182,517,233	E41V	probably benign	Het
Cd53	T	C	3: 106,767,416	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,312,187	E278K	possibly damaging	Het
Dact2	A	T	17: 14,195,914	S675T	probably damaging	Het
Dync1li2	A	C	8: 104,429,415	Y265D	probably damaging	Het
Eml4	T	A	17: 83,410,174	H58Q	probably benign	Het
F13b	T	C	1: 139,501,747	M1T	probably null	Het
Fam83b	A	G	9: 76,490,810	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,953,382	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,181,466	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,485,970	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,838,666	P60S	probably benign	Het
Fscb	A	T	12: 64,472,574	V706E	unknown	Het
Gfm2	A	G	13: 97,153,249	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,829,924		probably benign	Het
Gm4778	G	T	3: 94,266,480	C265F	possibly damaging	Het
Grin1	A	G	2: 25,297,629	V594A	probably damaging	Het
Kcns1	A	G	2: 164,164,762	I427T	probably damaging	Het
Map3k19	T	A	1: 127,823,793	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,264,067	S588G	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nat6	A	T	9: 107,583,168	E87D	possibly damaging	Het
Nebl	C	A	2: 17,434,929	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,092,144	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,307,441	R158H	possibly damaging	Het
Obscn	T	C	11: 59,056,188	E4337G	possibly damaging	Het
Olfr1459	A	G	19: 13,146,407	L84P	probably benign	Het
Palb2	A	G	7: 122,114,429	V877A	probably damaging	Het
Rbm6	T	C	9: 107,852,450	E333G	probably damaging	Het
Rem2	A	G	14: 54,476,362	T31A	possibly damaging	Het
Ric1	A	G	19: 29,602,330	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,348,139	S917P	probably damaging	Het
Scn2a	G	A	2: 65,688,371	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,437,518		probably benign	Het
Skor2	G	T	18: 76,860,724	E714*	probably null	Het
Slc15a1	T	A	14: 121,465,933	K545N	probably benign	Het
Slc1a2	T	A	2: 102,761,167	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,759,686	S70P	probably damaging	Het
Taf1a	A	G	1: 183,397,835	E117G	probably damaging	Het
Trem2	A	G	17: 48,351,113	D135G	probably benign	Het
Ttn	T	C	2: 76,737,065	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,260,039	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,671,576		probably benign	Het
Vmn2r56	A	C	7: 12,711,027	M433R	probably benign	Het
Wdr45	C	T	X: 7,727,372	P271S	probably damaging	Het
Zfp410	A	C	12: 84,331,637	N245T	probably damaging	Het

Other mutations in Itpripl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02444:Itpripl1	APN	2	127141701	missense	possibly damaging	0.87
IGL02978:Itpripl1	APN	2	127141012	missense	probably damaging	1.00
R0328:Itpripl1	UTSW	2	127142004	missense	possibly damaging	0.94
R0579:Itpripl1	UTSW	2	127141091	nonsense	probably null
R1178:Itpripl1	UTSW	2	127141899	missense	probably benign	0.05
R1623:Itpripl1	UTSW	2	127141635	missense	possibly damaging	0.78
R1956:Itpripl1	UTSW	2	127142007	missense	probably damaging	0.98
R2877:Itpripl1	UTSW	2	127141614	missense	probably benign	0.00
R4949:Itpripl1	UTSW	2	127141407	missense	probably benign	0.13
R5161:Itpripl1	UTSW	2	127141857	missense	probably damaging	1.00
R5236:Itpripl1	UTSW	2	127141850	missense	probably damaging	1.00
R5364:Itpripl1	UTSW	2	127141819	missense	possibly damaging	0.60
R5637:Itpripl1	UTSW	2	127142124	missense	probably damaging	1.00
R5715:Itpripl1	UTSW	2	127142007	missense	probably damaging	0.98
R7545:Itpripl1	UTSW	2	127141661	nonsense	probably null
R8409:Itpripl1	UTSW	2	127140766	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGCACTCAGAGTCCACCTTC -3'
(R):5'- TCCTACGACAGAGCATGCAG -3'

Sequencing Primer
(F):5'- TCAGAGTCCACCTTCACACAG -3'
(R):5'- TTTGAGTCCAGCAGCGAG -3'

Posted On

2015-01-23