Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Gipc2'

713574

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

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152093533-152166230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152128069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 192 (T192A)

Ref Sequence

ENSEMBL: ENSMUSP00000037328 (fasta)

Gene Model

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

AlphaFold

Q9Z2H7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046614
AA Change: T192A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: T192A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly 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
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'- TGCCTCTTAGATAAACAAGGGGAAG -3'
(R):5'- AGGTAAAGCCACACAGTTCC -3'

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

Posted On

2022-06-15