Mutagenetix > Incidental Mutation

Incidental Mutation 'R3912:Gab2'

309455

Institutional Source

Beutler Lab

Gene Symbol

Gab2

Ensembl Gene

ENSMUSG00000004508

Gene Name

growth factor receptor bound protein 2-associated protein 2

Synonyms

p97, D130058I17Rik

MMRRC Submission

040910-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R3912 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96730958-96958158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96948280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000146200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004622] [ENSMUST00000206791]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004622
AA Change: Y290C

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

SMART Domains

Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: Y290C

Domain	Start	End	E-Value	Type
PH	9	121	1.07e-22	SMART
Blast:PH	268	314	4e-11	BLAST
low complexity region	348	355	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000206791
AA Change: Y290C

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

Meta Mutation Damage Score

0.8451

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impairments in passive cutaneous and systemic anaphylaxis, Fc gamma receptor-mediated phagocytosis, and mast cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,806 (GRCm39)	S305G	probably damaging	Het
Acot12	A	G	13: 91,918,208 (GRCm39)	D167G	probably benign	Het
Adgra1	T	C	7: 139,425,630 (GRCm39)		probably null	Het
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Aopep	G	T	13: 63,304,520 (GRCm39)	E402*	probably null	Het
Atp2c2	A	G	8: 120,448,015 (GRCm39)	K103E	probably damaging	Het
Camkk1	A	G	11: 72,924,642 (GRCm39)	D285G	probably benign	Het
Ccdc158	G	C	5: 92,796,794 (GRCm39)	T514S	possibly damaging	Het
Cdhr5	T	A	7: 140,853,770 (GRCm39)	D210V	probably damaging	Het
Cndp1	C	T	18: 84,650,124 (GRCm39)	D190N	probably benign	Het
Eepd1	C	T	9: 25,394,600 (GRCm39)	T288M	probably damaging	Het
Erbin	G	T	13: 103,998,795 (GRCm39)	T197K	probably benign	Het
Erbin	G	A	13: 104,022,846 (GRCm39)		probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gbp3	C	T	3: 142,272,099 (GRCm39)		probably benign	Het
Gm14326	T	C	2: 177,587,658 (GRCm39)	K446R	probably damaging	Het
Herc2	T	C	7: 55,748,185 (GRCm39)	Y518H	probably damaging	Het
Id2	T	A	12: 25,145,871 (GRCm39)	K47*	probably null	Het
Ilf2	A	G	3: 90,394,367 (GRCm39)	N295S	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Mroh9	C	T	1: 162,893,638 (GRCm39)	C179Y	probably damaging	Het
Mrps18b	C	T	17: 36,221,831 (GRCm39)	V165I	probably benign	Het
Myrip	A	G	9: 120,261,682 (GRCm39)	S432G	probably benign	Het
Nutm2	C	T	13: 50,626,976 (GRCm39)	A377V	possibly damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Pax7	C	A	4: 139,508,209 (GRCm39)	W272L	probably benign	Het
Ppp1r12b	C	T	1: 134,815,056 (GRCm39)	E320K	probably damaging	Het
Prg4	T	C	1: 150,327,619 (GRCm39)	Y278C	probably damaging	Het
Pvr	T	C	7: 19,643,217 (GRCm39)	N339D	probably benign	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Ryr2	A	G	13: 11,787,313 (GRCm39)	I1020T	probably damaging	Het
Scn4a	T	A	11: 106,211,542 (GRCm39)	I1492F	probably damaging	Het
Sec16a	C	T	2: 26,304,399 (GRCm39)	G2304D	probably damaging	Het
Shisa7	T	A	7: 4,833,239 (GRCm39)	R341*	probably null	Het
Slc19a3	T	A	1: 83,000,424 (GRCm39)	M198L	probably benign	Het
Slc26a8	T	A	17: 28,863,753 (GRCm39)	N669Y	possibly damaging	Het
Slco1a7	A	G	6: 141,673,362 (GRCm39)	F392S	probably damaging	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Susd4	A	T	1: 182,715,031 (GRCm39)	Y284F	probably damaging	Het
Tas1r1	A	T	4: 152,116,381 (GRCm39)	Y418N	probably damaging	Het
Tdrd12	A	G	7: 35,187,138 (GRCm39)	I584T	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Vmn1r39	C	T	6: 66,782,125 (GRCm39)	M27I	probably benign	Het
Vmn2r59	T	C	7: 41,695,744 (GRCm39)	T223A	probably benign	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Wnt3a	A	C	11: 59,140,828 (GRCm39)	D229E	possibly damaging	Het

Other mutations in Gab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Gab2	APN	7	96,951,650 (GRCm39)	missense	possibly damaging	0.91
IGL00325:Gab2	APN	7	96,948,465 (GRCm39)	missense	probably damaging	1.00
IGL01832:Gab2	APN	7	96,953,445 (GRCm39)	missense	probably damaging	1.00
IGL01955:Gab2	APN	7	96,953,430 (GRCm39)	missense	probably damaging	1.00
IGL02664:Gab2	APN	7	96,953,389 (GRCm39)	missense	probably damaging	1.00
R0105:Gab2	UTSW	7	96,948,279 (GRCm39)	missense	probably damaging	1.00
R0105:Gab2	UTSW	7	96,948,279 (GRCm39)	missense	probably damaging	1.00
R0243:Gab2	UTSW	7	96,948,448 (GRCm39)	missense	probably damaging	0.96
R0827:Gab2	UTSW	7	96,949,539 (GRCm39)	missense	probably damaging	1.00
R1696:Gab2	UTSW	7	96,872,840 (GRCm39)	missense	probably damaging	1.00
R1872:Gab2	UTSW	7	96,948,250 (GRCm39)	missense	probably damaging	0.99
R2973:Gab2	UTSW	7	96,872,759 (GRCm39)	missense	probably benign	0.07
R3195:Gab2	UTSW	7	96,921,236 (GRCm39)	missense	probably benign
R3827:Gab2	UTSW	7	96,872,948 (GRCm39)	missense	probably damaging	1.00
R3910:Gab2	UTSW	7	96,948,280 (GRCm39)	missense	probably damaging	1.00
R3911:Gab2	UTSW	7	96,948,280 (GRCm39)	missense	probably damaging	1.00
R4604:Gab2	UTSW	7	96,953,420 (GRCm39)	missense	probably damaging	0.99
R5506:Gab2	UTSW	7	96,952,320 (GRCm39)	missense	probably damaging	1.00
R5655:Gab2	UTSW	7	96,948,099 (GRCm39)	missense	probably benign
R6299:Gab2	UTSW	7	96,731,066 (GRCm39)	missense	probably benign	0.00
R7038:Gab2	UTSW	7	96,952,290 (GRCm39)	missense	probably damaging	1.00
R7313:Gab2	UTSW	7	96,731,005 (GRCm39)	start gained	probably benign
R7586:Gab2	UTSW	7	96,950,645 (GRCm39)	missense	probably damaging	1.00
R7729:Gab2	UTSW	7	96,950,633 (GRCm39)	missense	probably damaging	1.00
R8434:Gab2	UTSW	7	96,948,337 (GRCm39)	missense	probably damaging	1.00
R9507:Gab2	UTSW	7	96,953,448 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGACACTGTATCAACGGCG -3'
(R):5'- TGCCCCATTGAGGTGTTTC -3'

Sequencing Primer
(F):5'- ACTGTATCAACGGCGTCGGAG -3'
(R):5'- CCATTGAGGTGTTTCTGCCTGAC -3'

Posted On

2015-04-17