Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Gipc2'

541447

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: 0.138) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152093533-152166230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152094248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 282 (F282L)

Ref Sequence

ENSEMBL: ENSMUSP00000037328 (fasta)

Gene Model

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

AlphaFold

Q9Z2H7

Predicted Effect

probably benign
Transcript: ENSMUST00000046614
AA Change: F282L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: F282L

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

0.1940

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably damaging	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
R6646:Gipc2	UTSW	3	152094201	missense	possibly damaging	0.61
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
R9440:Gipc2	UTSW	3	152128069	missense	possibly damaging	0.79

Predicted Primers

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

Sequencing Primer
(F):5'- GAGTTCATAACAGTGTCTAAGACCC -3'
(R):5'- CTGCCCCTTGGTGAGTGAAAG -3'

Posted On

2018-11-28