Mutagenetix > Incidental Mutation

Incidental Mutation 'R6299:Gab2'

508970

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

044465-MU

Accession Numbers

Essential gene?

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

Stock #

R6299 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

96730958-96958158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96731066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 12 (T12A)

Ref Sequence

ENSEMBL: ENSMUSP00000146200 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004622
AA Change: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: T12A

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 benign
Transcript: ENSMUST00000206791
AA Change: T12A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	G	A	6: 118,395,476 (GRCm39)	R24W	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,126 (GRCm39)	S60C	probably damaging	Het
Cabcoco1	A	G	10: 68,272,720 (GRCm39)	Y222H	probably damaging	Het
Cc2d1b	T	C	4: 108,485,335 (GRCm39)	V559A	probably benign	Het
Cgrrf1	T	A	14: 47,077,647 (GRCm39)	N46K	probably damaging	Het
Clca3a1	T	C	3: 144,464,275 (GRCm39)	D114G	probably damaging	Het
Clcnkb	T	A	4: 141,138,034 (GRCm39)	L279F	probably damaging	Het
Cr2	T	C	1: 194,850,954 (GRCm39)	T151A	probably damaging	Het
Creb3l3	C	T	10: 80,924,447 (GRCm39)	E236K	probably damaging	Het
Dcstamp	T	A	15: 39,618,599 (GRCm39)	V336D	probably damaging	Het
Dop1a	T	G	9: 86,386,265 (GRCm39)	F379V	probably damaging	Het
Esf1	T	C	2: 139,965,554 (GRCm39)	K714R	possibly damaging	Het
Exoc3l4	A	T	12: 111,388,513 (GRCm39)	M1L	possibly damaging	Het
Extl3	T	C	14: 65,314,121 (GRCm39)	R354G	probably benign	Het
Fastkd3	T	C	13: 68,735,855 (GRCm39)	L535P	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Golga4	T	A	9: 118,386,438 (GRCm39)	S1187T	probably benign	Het
Haus3	A	G	5: 34,325,140 (GRCm39)	V173A	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hspg2	A	G	4: 137,272,016 (GRCm39)	Y2566C	probably damaging	Het
Inpp5f	A	T	7: 128,237,884 (GRCm39)	T34S	possibly damaging	Het
Iqck	G	A	7: 118,475,485 (GRCm39)	G70S	unknown	Het
Jade1	T	C	3: 41,568,160 (GRCm39)	F743L	probably damaging	Het
Kif5a	T	C	10: 127,069,690 (GRCm39)	K845R	probably damaging	Het
Klhl30	A	G	1: 91,285,636 (GRCm39)		probably null	Het
Map2k1	T	C	9: 64,121,772 (GRCm39)	D67G	possibly damaging	Het
Mcm9	A	C	10: 53,413,777 (GRCm39)	C434W	probably damaging	Het
Muc4	T	G	16: 32,570,853 (GRCm39)	S638A	possibly damaging	Het
Nectin3	A	G	16: 46,284,345 (GRCm39)	V113A	probably damaging	Het
Nfya	T	C	17: 48,699,938 (GRCm39)		probably benign	Het
Nup155	G	T	15: 8,157,922 (GRCm39)	A460S	possibly damaging	Het
Nup210	T	C	6: 91,051,270 (GRCm39)	E371G	possibly damaging	Het
Olfm3	T	C	3: 114,914,632 (GRCm39)	S228P	probably damaging	Het
Or52n20	C	A	7: 104,320,075 (GRCm39)	D55E	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Plin1	A	C	7: 79,371,224 (GRCm39)	V500G	probably benign	Het
Ppfia1	A	C	7: 144,064,049 (GRCm39)	M513R	probably benign	Het
Ppp1cb	T	A	5: 32,640,798 (GRCm39)	C27*	probably null	Het
Prss22	T	A	17: 24,215,408 (GRCm39)	I123F	probably damaging	Het
Rbm24	G	T	13: 46,572,549 (GRCm39)	V15L	probably damaging	Het
Reln	T	C	5: 22,491,942 (GRCm39)	T97A	possibly damaging	Het
Sipa1l2	T	C	8: 126,180,203 (GRCm39)	T1065A	possibly damaging	Het
Sipa1l3	A	C	7: 29,065,974 (GRCm39)		probably null	Het
Snrnp200	T	A	2: 127,064,081 (GRCm39)	Y689*	probably null	Het
Srcap	T	C	7: 127,129,626 (GRCm39)		probably benign	Het
Sv2a	T	C	3: 96,095,565 (GRCm39)		probably null	Het
Tcf12	A	T	9: 71,766,211 (GRCm39)	V474D	probably damaging	Het
Tpcn2	A	T	7: 144,815,980 (GRCm39)	S403T	probably damaging	Het
Trim65	C	A	11: 116,017,377 (GRCm39)	A362S	probably benign	Het
Trmt1	T	A	8: 85,423,919 (GRCm39)	C36*	probably null	Het
Trpm8	T	A	1: 88,282,201 (GRCm39)	L699Q	probably damaging	Het
Ube2m	A	C	7: 12,769,797 (GRCm39)	I116R	probably damaging	Het
Ulk1	T	C	5: 110,938,963 (GRCm39)	K492E	possibly damaging	Het
Usp40	T	A	1: 87,925,649 (GRCm39)	K193N	probably damaging	Het
Vmn1r3	A	G	4: 3,185,098 (GRCm39)	S70P	possibly damaging	Het
Vmn2r2	T	A	3: 64,024,074 (GRCm39)	K836*	probably null	Het
Vmn2r75	T	A	7: 85,814,482 (GRCm39)	H337L	probably benign	Het
Wars1	G	A	12: 108,827,309 (GRCm39)	T437M	probably benign	Het
Zdhhc5	T	C	2: 84,520,825 (GRCm39)	T451A	probably benign	Het
Zfp788	T	G	7: 41,297,965 (GRCm39)	H180Q	possibly damaging	Het
Zkscan7	A	G	9: 122,717,782 (GRCm39)	E59G	probably 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
R3912: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
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'- TGTGGGGTCCAGGCTAACT -3'
(R):5'- AATCGCTCCAAACTTCGGCTC -3'

Sequencing Primer
(F):5'- TAACTGGCCTCTGCGCC -3'
(R):5'- AAACTTCGGCTCGGCGAG -3'

Posted On

2018-04-02