Mutagenetix > Incidental Mutation

Incidental Mutation 'R8198:Itpripl2'

635541

Institutional Source

Beutler Lab

Gene Symbol

Itpripl2

Ensembl Gene

ENSMUSG00000095115

Gene Name

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

Synonyms

E030018N11Rik

MMRRC Submission

067621-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R8198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118084334-118091198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118089819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 247 (S247P)

Ref Sequence

ENSEMBL: ENSMUSP00000136409 (fasta)

Gene Model

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

AlphaFold

Q3UV16

Predicted Effect

probably damaging
Transcript: ENSMUST00000178344
AA Change: S247P

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

SMART Domains

Protein: ENSMUSP00000136409
Gene: ENSMUSG00000095115
AA Change: S247P

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

0.3079

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,825,017 (GRCm39)	*168R	probably null	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ankrd27	T	C	7: 35,307,880 (GRCm39)	V373A	probably benign	Het
Aoah	C	T	13: 21,101,290 (GRCm39)	P270L	probably damaging	Het
AU041133	C	G	10: 81,987,249 (GRCm39)	P301A	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Cd2bp2	A	G	7: 126,793,576 (GRCm39)	S204P	possibly damaging	Het
Clca4b	C	A	3: 144,638,167 (GRCm39)	G32C	probably damaging	Het
Clcn2	A	G	16: 20,525,946 (GRCm39)	V808A	probably damaging	Het
Clec4d	T	C	6: 123,244,965 (GRCm39)	C82R	probably damaging	Het
Dennd1c	T	C	17: 57,373,460 (GRCm39)	D671G	possibly damaging	Het
Eml5	G	A	12: 98,825,145 (GRCm39)	R691*	probably null	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gm4922	T	C	10: 18,659,340 (GRCm39)	T461A	probably benign	Het
Gm9964	A	G	11: 79,187,405 (GRCm39)	V14A	unknown	Het
Gnb3	T	C	6: 124,814,000 (GRCm39)	Y196C	probably benign	Het
H4c2	C	G	13: 23,941,283 (GRCm39)	Q94E	possibly damaging	Het
Hps1	C	T	19: 42,755,659 (GRCm39)	R189Q	probably benign	Het
Iars2	G	A	1: 185,029,703 (GRCm39)	T638I	probably benign	Het
Leng8	C	A	7: 4,147,170 (GRCm39)	R523S	possibly damaging	Het
Lhfpl3	T	A	5: 23,478,333 (GRCm39)	V72D	probably benign	Het
Lmntd2	A	T	7: 140,791,134 (GRCm39)	M426K	possibly damaging	Het
Lsg1	A	T	16: 30,383,594 (GRCm39)	V542E	probably benign	Het
Mphosph6	C	T	8: 118,519,449 (GRCm39)	V108I	probably benign	Het
Mta2	A	G	19: 8,925,145 (GRCm39)	T338A	probably benign	Het
Ncoa7	T	C	10: 30,580,664 (GRCm39)	N98S	probably benign	Het
Or52h7	T	A	7: 104,214,140 (GRCm39)	D237E	probably benign	Het
Or7a36	C	A	10: 78,820,443 (GRCm39)	T273K	probably benign	Het
Or7a42	T	A	10: 78,791,558 (GRCm39)	V173E	probably damaging	Het
Pgr	T	C	9: 8,958,411 (GRCm39)	V806A	possibly damaging	Het
Rad54b	T	C	4: 11,612,440 (GRCm39)		probably null	Het
Sdad1	A	T	5: 92,439,811 (GRCm39)	C405S	probably damaging	Het
Semp2l2a	T	A	8: 13,887,056 (GRCm39)	Y345F	probably benign	Het
Shoc1	T	C	4: 59,065,174 (GRCm39)	I814V	probably benign	Het
Smg1	T	C	7: 117,744,829 (GRCm39)	I3108V	probably benign	Het
Spink5	A	T	18: 44,125,947 (GRCm39)	I409F	probably benign	Het
Syt13	C	A	2: 92,783,899 (GRCm39)	L390M	probably damaging	Het
Taf5	T	A	19: 47,064,212 (GRCm39)	V385E	probably damaging	Het
Tdrd9	T	A	12: 112,006,863 (GRCm39)	V909E	probably damaging	Het
Tex9	G	A	9: 72,387,940 (GRCm39)		probably benign	Het
Timm10b	G	T	7: 105,327,537 (GRCm39)	E61*	probably null	Het
Tmprss11g	A	T	5: 86,646,352 (GRCm39)	F72I	probably benign	Het
Trank1	T	C	9: 111,219,880 (GRCm39)	C2206R	probably benign	Het
Uba52rt	C	A	4: 3,973,346 (GRCm39)	R72L	probably benign	Het
Unc45b	GC	G	11: 82,816,814 (GRCm39)		probably null	Het
Unc93b1	T	C	19: 3,991,910 (GRCm39)	S215P	possibly damaging	Het
Usp48	C	T	4: 137,348,470 (GRCm39)		probably benign	Het
Vmn1r81	A	G	7: 11,993,882 (GRCm39)	V242A	possibly damaging	Het
Zgrf1	T	A	3: 127,389,673 (GRCm39)		probably null	Het

Other mutations in Itpripl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02397:Itpripl2	APN	7	118,089,519 (GRCm39)	missense	probably damaging	1.00
R0633:Itpripl2	UTSW	7	118,089,479 (GRCm39)	missense	probably benign	0.01
R2154:Itpripl2	UTSW	7	118,089,107 (GRCm39)	missense	probably damaging	0.99
R2186:Itpripl2	UTSW	7	118,090,500 (GRCm39)	missense	probably damaging	0.99
R2237:Itpripl2	UTSW	7	118,089,294 (GRCm39)	missense	probably benign
R4830:Itpripl2	UTSW	7	118,090,280 (GRCm39)	missense	probably benign
R5571:Itpripl2	UTSW	7	118,089,092 (GRCm39)	missense	probably damaging	0.99
R5583:Itpripl2	UTSW	7	118,089,101 (GRCm39)	missense	probably benign	0.01
R5753:Itpripl2	UTSW	7	118,090,232 (GRCm39)	missense	probably damaging	0.96
R5833:Itpripl2	UTSW	7	118,089,194 (GRCm39)	missense	probably benign	0.32
R6913:Itpripl2	UTSW	7	118,090,332 (GRCm39)	missense	possibly damaging	0.49
R7079:Itpripl2	UTSW	7	118,090,092 (GRCm39)	missense	possibly damaging	0.92
R8120:Itpripl2	UTSW	7	118,089,508 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTTGAGATAGCAGGCACCTG -3'
(R):5'- ACAGCTTCGACGTGTTGGTG -3'

Sequencing Primer
(F):5'- GACGTGCTGTGTTCACACC -3'
(R):5'- TTGGTGCCACTGCGACTC -3'

Posted On

2020-07-13