Incidental Mutation 'IGL01832:Gab2'
ID154819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gab2
Ensembl Gene ENSMUSG00000004508
Gene Namegrowth factor receptor bound protein 2-associated protein 2
SynonymsD130058I17Rik, p97
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.390) question?
Stock #IGL01832
Quality Score
Status
Chromosome7
Chromosomal Location97081586-97308946 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97304238 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 606 (L606P)
Ref Sequence ENSEMBL: ENSMUSP00000146200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004622] [ENSMUST00000206791]
Predicted Effect probably damaging
Transcript: ENSMUST00000004622
AA Change: L607P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: L607P

DomainStartEndE-ValueType
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: L606P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Gab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Gab2 APN 7 97302443 missense possibly damaging 0.91
IGL00325:Gab2 APN 7 97299258 missense probably damaging 1.00
IGL01955:Gab2 APN 7 97304223 missense probably damaging 1.00
IGL02664:Gab2 APN 7 97304182 missense probably damaging 1.00
R0105:Gab2 UTSW 7 97299072 missense probably damaging 1.00
R0105:Gab2 UTSW 7 97299072 missense probably damaging 1.00
R0243:Gab2 UTSW 7 97299241 missense probably damaging 0.96
R0827:Gab2 UTSW 7 97300332 missense probably damaging 1.00
R1696:Gab2 UTSW 7 97223633 missense probably damaging 1.00
R1872:Gab2 UTSW 7 97299043 missense probably damaging 0.99
R2973:Gab2 UTSW 7 97223552 missense probably benign 0.07
R3195:Gab2 UTSW 7 97272029 missense probably benign
R3827:Gab2 UTSW 7 97223741 missense probably damaging 1.00
R3910:Gab2 UTSW 7 97299073 missense probably damaging 1.00
R3911:Gab2 UTSW 7 97299073 missense probably damaging 1.00
R3912:Gab2 UTSW 7 97299073 missense probably damaging 1.00
R4604:Gab2 UTSW 7 97304213 missense probably damaging 0.99
R5506:Gab2 UTSW 7 97303113 missense probably damaging 1.00
R5655:Gab2 UTSW 7 97298892 missense probably benign
R6299:Gab2 UTSW 7 97081859 missense probably benign 0.00
R7038:Gab2 UTSW 7 97303083 missense probably damaging 1.00
R7313:Gab2 UTSW 7 97081798 start gained probably benign
R7586:Gab2 UTSW 7 97301438 missense probably damaging 1.00
R7729:Gab2 UTSW 7 97301426 missense probably damaging 1.00
Posted On2014-02-04