Mutagenetix > Incidental Mutations

Incidental Mutation 'R6646:Gipc2'

527969

Institutional Source

Beutler Lab

Gene Symbol

Gipc2

Ensembl Gene

ENSMUSG00000039131

Gene Name

GIPC PDZ domain containing family, member 2

Synonyms

Semcap2, 2200002N01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R6646 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152093533-152166230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152094201 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 297 (D297E)

Ref Sequence

ENSEMBL: ENSMUSP00000037328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046614]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046614
AA Change: D297E

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: D297E

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
PDZ	125	199	7.04e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200501

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	A	10: 82,296,830	E115D	unknown	Het
Ada	G	T	2: 163,735,423	N48K	probably benign	Het
Aldh1a7	C	T	19: 20,699,911	A449T	possibly damaging	Het
Arhgef28	A	G	13: 97,939,494	V1344A	probably benign	Het
Carmil3	A	T	14: 55,507,930	E1371D	probably damaging	Het
Crebbp	C	T	16: 4,119,806	A698T	possibly damaging	Het
Dedd2	T	C	7: 25,203,613	D307G	probably damaging	Het
Dennd6b	G	T	15: 89,186,184	F427L	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Doc2a	G	A	7: 126,851,619		probably null	Het
Dst	A	G	1: 34,268,807	T6503A	possibly damaging	Het
Ehmt1	A	T	2: 24,806,310	I922K	probably damaging	Het
Gbp9	A	G	5: 105,082,903	I385T	probably benign	Het
Krt6b	T	A	15: 101,677,214	Q428L	probably damaging	Het
Loxl4	T	C	19: 42,598,781	D625G	probably damaging	Het
Lrrn2	C	T	1: 132,939,056	P620S	probably benign	Het
Msh6	T	C	17: 87,986,442	V875A	possibly damaging	Het
Nebl	T	C	2: 17,376,685	T727A	probably damaging	Het
Obscn	T	C	11: 59,082,718	D1929G	possibly damaging	Het
Pard3b	T	C	1: 62,161,121	V273A	probably benign	Het
Pcdhb7	T	A	18: 37,343,974	V721E	possibly damaging	Het
Plaa	A	T	4: 94,589,978	H82Q	probably benign	Het
Plcd1	T	A	9: 119,075,032	Y278F	probably damaging	Het
Plxnb1	C	A	9: 109,108,827	H1214N	probably benign	Het
Ptprg	C	A	14: 11,962,714	P171T	probably damaging	Het
Rela	T	G	19: 5,647,104	D446E	probably damaging	Het
Rpap1	T	C	2: 119,780,131	I156V	probably benign	Het
Rpl15	T	C	14: 18,270,040	Y59C	probably damaging	Het
Scx	C	A	15: 76,457,921	T107N	probably damaging	Het
Skint5	T	A	4: 113,940,777	K203I	possibly damaging	Het
Slc16a6	C	T	11: 109,453,162	M518I	probably benign	Het
Sorbs1	C	T	19: 40,325,549	G940R	probably damaging	Het
Synm	A	T	7: 67,735,127	I487K	probably damaging	Het
Tcerg1l	A	T	7: 138,395,183		probably null	Het
Vmn2r99	T	G	17: 19,380,031	L439R	probably damaging	Het
Wdr75	T	A	1: 45,799,087	L52Q	probably damaging	Het
Zswim2	T	A	2: 83,915,784	R437*	probably null	Het

Other mutations in Gipc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Gipc2	APN	3	152137578	missense	probably damaging	1.00
IGL01065:Gipc2	APN	3	152102657	missense	possibly damaging	0.66
IGL01524:Gipc2	APN	3	152137577	missense	probably damaging	1.00
IGL01690:Gipc2	APN	3	152128134	missense	probably damaging	1.00
IGL01697:Gipc2	APN	3	152137608	missense	probably benign	0.22
IGL02223:Gipc2	APN	3	152128050	missense	probably damaging	1.00
R0400:Gipc2	UTSW	3	152165668	missense	probably damaging	0.99
R0490:Gipc2	UTSW	3	152102654	missense	possibly damaging	0.90
R1119:Gipc2	UTSW	3	152094196	missense	probably damaging	1.00
R1168:Gipc2	UTSW	3	152107997	missense	probably benign	0.10
R1663:Gipc2	UTSW	3	152094164	missense	probably benign
R2365:Gipc2	UTSW	3	152128194	missense	possibly damaging	0.89
R2434:Gipc2	UTSW	3	152137680	missense	probably benign	0.01
R3816:Gipc2	UTSW	3	152165844	missense	probably benign	0.02
R3835:Gipc2	UTSW	3	152128186	missense	probably damaging	0.98
R5069:Gipc2	UTSW	3	152094248	missense	probably benign	0.12
R5240:Gipc2	UTSW	3	152102662	missense	possibly damaging	0.73
R5625:Gipc2	UTSW	3	152165904	utr 5 prime	probably benign
R6956:Gipc2	UTSW	3	152094248	missense	probably benign	0.12
R7258:Gipc2	UTSW	3	152165715	missense	probably damaging	1.00
R7259:Gipc2	UTSW	3	152128056	missense	probably damaging	0.99
R8035:Gipc2	UTSW	3	152094229	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTCGAAGACTGTATCTCATACACAG -3'
(R):5'- GAAATCTATCCCTGCCCCTTGG -3'

Sequencing Primer
(F):5'- GACTGTATCTCATACACAGGAGGC -3'
(R):5'- GGTAAGTAGTCATGGTCCTGCTAAC -3'

Posted On

2018-07-24