Mutagenetix > Incidental Mutation

Incidental Mutation 'R0105:Gab2'

33263

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

038391-MU

Accession Numbers

Essential gene?

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

Stock #

R0105 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

96730958-96958158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96948279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 290 (Y290H)

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: Y290H

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

SMART Domains

Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: Y290H

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: Y290H

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

Meta Mutation Damage Score

0.3334

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (70/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	G	A	6: 133,271,277 (GRCm39)	R107K	probably benign	Het
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Adcy9	A	G	16: 4,106,252 (GRCm39)	V954A	probably damaging	Het
Aldh8a1	T	A	10: 21,271,438 (GRCm39)	M388K	probably damaging	Het
Ankhd1	A	G	18: 36,779,819 (GRCm39)	I1720M	probably damaging	Het
Atp6v0a4	T	C	6: 38,030,064 (GRCm39)		probably benign	Het
C1qtnf4	T	A	2: 90,720,707 (GRCm39)	*327R	probably null	Het
C1s1	T	C	6: 124,518,277 (GRCm39)		probably benign	Het
Cdsn	A	C	17: 35,867,035 (GRCm39)	R521S	possibly damaging	Het
Cgnl1	T	C	9: 71,563,384 (GRCm39)	M848V	probably benign	Het
Cog3	A	G	14: 75,959,580 (GRCm39)	S591P	probably damaging	Het
Col6a3	A	G	1: 90,725,883 (GRCm39)	V1375A	possibly damaging	Het
Cplane1	T	A	15: 8,216,876 (GRCm39)	V698D	probably benign	Het
Cr1l	A	G	1: 194,794,720 (GRCm39)		probably benign	Het
Crmp1	T	A	5: 37,441,479 (GRCm39)	D520E	probably damaging	Het
Ctdspl2	T	A	2: 121,807,801 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,132,262 (GRCm39)	A1147T	probably damaging	Het
Dsg2	T	C	18: 20,735,111 (GRCm39)	S1030P	probably benign	Het
Elavl3	C	A	9: 21,948,129 (GRCm39)	V12F	possibly damaging	Het
Fam20b	T	C	1: 156,518,140 (GRCm39)	E218G	probably damaging	Het
Fam227a	T	C	15: 79,505,033 (GRCm39)	D466G	possibly damaging	Het
Fto	G	A	8: 92,249,430 (GRCm39)	E421K	probably damaging	Het
Gm973	A	G	1: 59,621,633 (GRCm39)	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,700,026 (GRCm39)	T249A	probably benign	Het
Il15ra	T	A	2: 11,735,459 (GRCm39)		probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Il6ra	A	G	3: 89,784,125 (GRCm39)	I382T	probably damaging	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Krt76	T	C	15: 101,793,347 (GRCm39)	T564A	unknown	Het
Lhpp	T	C	7: 132,232,254 (GRCm39)	S57P	probably damaging	Het
Lrrk1	G	T	7: 65,942,089 (GRCm39)	D716E	probably damaging	Het
Mcm3ap	T	A	10: 76,335,368 (GRCm39)	D1263E	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mroh7	T	C	4: 106,568,467 (GRCm39)	T48A	possibly damaging	Het
Nccrp1	T	C	7: 28,246,463 (GRCm39)	D33G	probably benign	Het
Neurog1	G	T	13: 56,399,050 (GRCm39)	D232E	probably benign	Het
Or4a71	T	C	2: 89,358,707 (GRCm39)	T16A	probably benign	Het
Or4c105	T	A	2: 88,648,253 (GRCm39)	V246D	probably damaging	Het
Otog	C	A	7: 45,937,790 (GRCm39)	T1833K	possibly damaging	Het
Perm1	C	A	4: 156,302,682 (GRCm39)	H409N	probably benign	Het
Pik3r5	A	T	11: 68,381,337 (GRCm39)	E174D	probably damaging	Het
Pkhd1	G	A	1: 20,593,956 (GRCm39)	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,345,325 (GRCm39)	R344G	possibly damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plekhg4	G	A	8: 106,108,644 (GRCm39)	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,674,210 (GRCm39)	Y118C	probably damaging	Het
Prrc2b	G	T	2: 32,103,323 (GRCm39)	E934*	probably null	Het
Psmb9	A	G	17: 34,406,249 (GRCm39)	F12S	probably benign	Het
Ptdss2	T	C	7: 140,732,793 (GRCm39)	W183R	probably damaging	Het
Ptpn4	C	T	1: 119,615,335 (GRCm39)		probably null	Het
Reln	G	A	5: 22,253,813 (GRCm39)	R600W	probably damaging	Het
Scml4	T	A	10: 42,806,595 (GRCm39)	V161E	probably damaging	Het
Sdcbp2	A	T	2: 151,431,478 (GRCm39)	T284S	probably benign	Het
Slc22a29	T	C	19: 8,137,991 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,197,121 (GRCm39)		probably benign	Het
Sumf2	T	A	5: 129,878,735 (GRCm39)		probably benign	Het
Tbx10	A	G	19: 4,043,121 (GRCm39)		probably benign	Het
Tex10	C	A	4: 48,468,957 (GRCm39)	V73F	probably damaging	Het
Tgm5	C	A	2: 120,907,493 (GRCm39)	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,351,082 (GRCm39)		probably null	Het
Treml2	C	T	17: 48,609,856 (GRCm39)	T96I	probably damaging	Het
Trim65	T	C	11: 116,016,892 (GRCm39)	*523W	probably null	Het
Zcchc17	T	A	4: 130,243,099 (GRCm39)	D28V	probably benign	Het
Zhx2	T	C	15: 57,686,091 (GRCm39)	F487L	probably damaging	Het
Zkscan6	T	A	11: 65,712,811 (GRCm39)	L248Q	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
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
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'- ACTTGCCCAGAGCAATGGACAC -3'
(R):5'- GCTCCAGATTACACTGACCTCGATG -3'

Sequencing Primer
(F):5'- TGGACACTGTATCAACGGC -3'
(R):5'- GATTACACTGACCTCGATGGAGTC -3'

Posted On

2013-05-09