Mutagenetix > Incidental Mutation

Incidental Mutation 'R3835:Gipc2'

275579

Institutional Source

Beutler Lab

Gene Symbol

Gipc2

Ensembl Gene

ENSMUSG00000039131

Gene Name

GIPC PDZ domain containing family, member 2

Synonyms

Semcap2, 2200002N01Rik

MMRRC Submission

040890-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R3835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151799476-151871537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 151833823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 153 (V153F)

Ref Sequence

ENSEMBL: ENSMUSP00000037328 (fasta)

Gene Model

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

AlphaFold

Q9Z2H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000046614
AA Change: V153F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: V153F

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: ENSMUST00000133102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200501

Meta Mutation Damage Score

0.1191

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,216,254 (GRCm39)	I479T	probably damaging	Het
Adh6a	G	A	3: 138,033,275 (GRCm39)		probably null	Het
Anapc7	A	G	5: 122,581,940 (GRCm39)	T528A	possibly damaging	Het
Ap5b1	A	G	19: 5,618,918 (GRCm39)	T113A	possibly damaging	Het
Apaf1	G	A	10: 90,895,449 (GRCm39)	R439C	probably benign	Het
Apoa5	A	T	9: 46,181,878 (GRCm39)	H318L	probably damaging	Het
Bltp2	A	G	11: 78,169,911 (GRCm39)	R1545G	probably benign	Het
Btnl9	T	G	11: 49,071,512 (GRCm39)	T104P	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Dennd5a	T	C	7: 109,533,449 (GRCm39)	K107R	probably benign	Het
Dthd1	A	T	5: 63,007,128 (GRCm39)	R610W	probably damaging	Het
Eno1	T	C	4: 150,331,119 (GRCm39)	S186P	probably benign	Het
Gpt	A	G	15: 76,582,783 (GRCm39)	Y295C	probably damaging	Het
Kcnh5	T	A	12: 74,945,044 (GRCm39)	Q735L	probably benign	Het
Lrrc10	A	G	10: 116,881,691 (GRCm39)	N122D	possibly damaging	Het
Lrrc37	C	A	11: 103,510,836 (GRCm39)	L377F	unknown	Het
Meis2	T	C	2: 115,752,228 (GRCm39)	H301R	probably damaging	Het
Muc5b	A	T	7: 141,412,918 (GRCm39)	I1955F	unknown	Het
Nalcn	A	T	14: 123,530,834 (GRCm39)		probably benign	Het
Nmt2	T	C	2: 3,315,723 (GRCm39)		probably benign	Het
Nnt	C	T	13: 119,509,031 (GRCm39)	G403R	probably damaging	Het
Or4a79	T	G	2: 89,551,799 (GRCm39)	I219L	possibly damaging	Het
Or4d6	T	A	19: 12,086,764 (GRCm39)	I49F	possibly damaging	Het
Or5b109	A	T	19: 13,212,103 (GRCm39)	D163V	probably benign	Het
Ovgp1	A	G	3: 105,893,631 (GRCm39)	E468G	probably benign	Het
Pax6	G	A	2: 105,526,795 (GRCm39)	E234K	probably benign	Het
Prkdc	A	G	16: 15,609,810 (GRCm39)	E3138G	probably damaging	Het
Prmt6	T	C	3: 110,158,121 (GRCm39)	D56G	possibly damaging	Het
Ptprt	A	G	2: 161,389,307 (GRCm39)	V1261A	probably damaging	Het
Qtrt2	A	G	16: 43,701,435 (GRCm39)	S42P	probably damaging	Het
Rab9b	C	T	X: 135,762,259 (GRCm39)	R47Q	possibly damaging	Het
Rpgrip1	A	G	14: 52,384,710 (GRCm39)	E606G	probably damaging	Het
Setx	C	T	2: 29,035,072 (GRCm39)	S519L	possibly damaging	Het
Slc15a2	A	T	16: 36,592,490 (GRCm39)	C191*	probably null	Het
Snrk	T	C	9: 121,966,069 (GRCm39)		probably benign	Het
St6galnac1	T	C	11: 116,657,109 (GRCm39)	D422G	probably damaging	Het
Stag1	C	T	9: 100,620,035 (GRCm39)	T46I	probably damaging	Het
Tagln	T	C	9: 45,843,008 (GRCm39)	I18V	probably benign	Het
Tasor2	T	C	13: 3,625,292 (GRCm39)	T1553A	probably benign	Het
Tbx18	C	A	9: 87,611,689 (GRCm39)	A114S	probably benign	Het
Ttc16	T	C	2: 32,659,322 (GRCm39)	D259G	probably damaging	Het
Vldlr	A	G	19: 27,212,214 (GRCm39)	D76G	probably damaging	Het
Vmn2r24	G	T	6: 123,764,412 (GRCm39)	D430Y	probably benign	Het
Xlr3a	T	C	X: 72,138,644 (GRCm39)	E5G	probably damaging	Het

Other mutations in Gipc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Gipc2	APN	3	151,843,215 (GRCm39)	missense	probably damaging	1.00
IGL01065:Gipc2	APN	3	151,808,294 (GRCm39)	missense	possibly damaging	0.66
IGL01524:Gipc2	APN	3	151,843,214 (GRCm39)	missense	probably damaging	1.00
IGL01690:Gipc2	APN	3	151,833,771 (GRCm39)	missense	probably damaging	1.00
IGL01697:Gipc2	APN	3	151,843,245 (GRCm39)	missense	probably benign	0.22
IGL02223:Gipc2	APN	3	151,833,687 (GRCm39)	missense	probably damaging	1.00
R0400:Gipc2	UTSW	3	151,871,305 (GRCm39)	missense	probably damaging	0.99
R0490:Gipc2	UTSW	3	151,808,291 (GRCm39)	missense	possibly damaging	0.90
R1119:Gipc2	UTSW	3	151,799,833 (GRCm39)	missense	probably damaging	1.00
R1168:Gipc2	UTSW	3	151,813,634 (GRCm39)	missense	probably benign	0.10
R1663:Gipc2	UTSW	3	151,799,801 (GRCm39)	missense	probably benign
R2365:Gipc2	UTSW	3	151,833,831 (GRCm39)	missense	possibly damaging	0.89
R2434:Gipc2	UTSW	3	151,843,317 (GRCm39)	missense	probably benign	0.01
R3816:Gipc2	UTSW	3	151,871,481 (GRCm39)	missense	probably benign	0.02
R5069:Gipc2	UTSW	3	151,799,885 (GRCm39)	missense	probably benign	0.12
R5240:Gipc2	UTSW	3	151,808,299 (GRCm39)	missense	possibly damaging	0.73
R5625:Gipc2	UTSW	3	151,871,541 (GRCm39)	utr 5 prime	probably benign
R6646:Gipc2	UTSW	3	151,799,838 (GRCm39)	missense	possibly damaging	0.61
R6956:Gipc2	UTSW	3	151,799,885 (GRCm39)	missense	probably benign	0.12
R7258:Gipc2	UTSW	3	151,871,352 (GRCm39)	missense	probably damaging	1.00
R7259:Gipc2	UTSW	3	151,833,693 (GRCm39)	missense	probably damaging	0.99
R8035:Gipc2	UTSW	3	151,799,866 (GRCm39)	missense	probably damaging	0.96
R9440:Gipc2	UTSW	3	151,833,706 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGCCTCTTAGATAAACAAGGGG -3'
(R):5'- GCTAGCTGAATTCTGAATGGAAGG -3'

Sequencing Primer
(F):5'- AAAATGGTTTCTCTTTGTCTGTCTG -3'
(R):5'- CTGAATTCTGAATGGAAGGAAGATG -3'

Posted On

2015-04-06