Mutagenetix > Incidental Mutations

Incidental Mutation 'R5571:Itpripl2'

435670

Institutional Source

Beutler Lab

Gene Symbol

Itpripl2

Ensembl Gene

ENSMUSG00000095115

Gene Name

inositol 1,4,5-triphosphate receptor interacting protein-like 2

Synonyms

MMRRC Submission

044395-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118485111-118491975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118489869 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 489 (R489Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178344]

Predicted Effect

probably damaging
Transcript: ENSMUST00000178344
AA Change: R489Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136409
Gene: ENSMUSG00000095115
AA Change: R489Q

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
transmembrane domain	46	64	N/A	INTRINSIC
Mab-21	161	501	1.58e-72	SMART

Meta Mutation Damage Score

0.1157

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	A	7: 140,249,123	C232S	probably damaging	Het
9530053A07Rik	A	G	7: 28,156,569	D1927G	probably damaging	Het
Atad5	T	C	11: 80,111,556	V1058A	probably benign	Het
Baiap2l2	T	C	15: 79,271,583	H97R	probably damaging	Het
Bax	A	G	7: 45,461,891	S184P	probably damaging	Het
Bsph1	T	G	7: 13,450,915	M1R	probably null	Het
Cbln2	A	G	18: 86,713,148	D27G	probably benign	Het
Cntnap3	G	A	13: 64,903,758	A28V	probably damaging	Het
Col6a3	C	A	1: 90,788,216	R1641L	unknown	Het
Dhrs3	T	G	4: 144,893,564	I17S	probably benign	Het
Ep300	T	C	15: 81,643,217		probably benign	Het
Epb41	T	C	4: 131,937,406		probably benign	Het
Fat4	A	T	3: 39,010,274	E4793V	probably damaging	Het
Fbxw22	T	G	9: 109,403,088	K80N	probably damaging	Het
Fbxw24	T	C	9: 109,606,998	E322G	probably benign	Het
Fndc7	T	C	3: 108,856,408	I639V	possibly damaging	Het
Folh1	T	C	7: 86,734,120	Y473C	probably damaging	Het
Foxb2	T	A	19: 16,872,767	M292L	probably benign	Het
Gapvd1	A	G	2: 34,715,253	S41P	probably damaging	Het
Gm8298	A	T	3: 59,877,219	H371L	probably damaging	Het
Gmds	A	T	13: 31,917,721		probably null	Het
Gp6	G	T	7: 4,368,900	A302D	probably damaging	Het
Hmgcr	A	T	13: 96,666,663	M8K	probably benign	Het
Kmo	T	C	1: 175,647,194	V175A	possibly damaging	Het
Lce1i	C	T	3: 92,777,681	G63S	unknown	Het
Lrp1b	T	C	2: 41,408,342	Q155R	probably damaging	Het
Mdm1	T	C	10: 118,159,683	S541P	possibly damaging	Het
Mgea5	T	C	19: 45,777,006	T121A	probably benign	Het
Neto2	C	T	8: 85,640,544	D524N	probably damaging	Het
Olfr1350	T	C	7: 6,570,825	I278T	possibly damaging	Het
Olfr183	A	T	16: 59,000,206	I174L	probably benign	Het
Olfr319	T	A	11: 58,702,051	F117I	probably damaging	Het
Olfr338	A	G	2: 36,377,117	T114A	probably benign	Het
Ppp4r1	C	T	17: 65,803,861	Q21*	probably null	Het
Ryr2	T	A	13: 11,555,448	T4930S	possibly damaging	Het
Siae	G	A	9: 37,616,923	G64D	probably benign	Het
Slc14a2	T	C	18: 78,209,067	M10V	possibly damaging	Het
Ssrp1	C	G	2: 85,044,325	D496E	probably damaging	Het
Steap2	A	G	5: 5,675,912	S371P	probably damaging	Het
Taf6l	G	A	19: 8,783,930	R24W	probably damaging	Het
Tbkbp1	T	C	11: 97,148,729	Q118R	probably damaging	Het
Tln2	C	T	9: 67,334,320	G1001E	possibly damaging	Het
Tm2d3	A	G	7: 65,699,124	N184D	probably damaging	Het
Tmprss2	A	T	16: 97,590,871	W131R	probably null	Het
Ube2d2a	A	G	18: 35,770,478		probably benign	Het
Unc13d	A	G	11: 116,063,654	Y1043H	probably benign	Het
Usp34	T	A	11: 23,457,975	I2600K	probably damaging	Het
Vmn1r198	A	G	13: 22,354,998	Y218C	probably damaging	Het
Vmn2r8	T	C	5: 108,802,240	Y247C	probably damaging	Het
Wdr59	A	T	8: 111,465,831	N699K	probably damaging	Het
Zcchc2	T	C	1: 106,023,672	V579A	probably benign	Het
Zfhx3	A	T	8: 108,955,991	Q3354L	unknown	Het

Other mutations in Itpripl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02397:Itpripl2	APN	7	118490296	missense	probably damaging	1.00
R0633:Itpripl2	UTSW	7	118490256	missense	probably benign	0.01
R2154:Itpripl2	UTSW	7	118489884	missense	probably damaging	0.99
R2186:Itpripl2	UTSW	7	118491277	missense	probably damaging	0.99
R2237:Itpripl2	UTSW	7	118490071	missense	probably benign
R4830:Itpripl2	UTSW	7	118491057	missense	probably benign
R5583:Itpripl2	UTSW	7	118489878	missense	probably benign	0.01
R5753:Itpripl2	UTSW	7	118491009	missense	probably damaging	0.96
R5833:Itpripl2	UTSW	7	118489971	missense	probably benign	0.32
R6913:Itpripl2	UTSW	7	118491109	missense	possibly damaging	0.49
R7079:Itpripl2	UTSW	7	118490869	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCATGGGAAAGGGGCATTTG -3'
(R):5'- TGGAGGTGCTTCTGAACGAG -3'

Sequencing Primer
(F):5'- CATTTGGTCAGGTGGAGTGTAATCAG -3'
(R):5'- TGCTTCTGAACGAGGGCAG -3'

Posted On

2016-10-24