Incidental Mutation 'IGL01832:Gab2'
ID 154819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gab2
Ensembl Gene ENSMUSG00000004508
Gene Name growth factor receptor bound protein 2-associated protein 2
Synonyms p97, D130058I17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.399) question?
Stock # IGL01832
Quality Score
Status
Chromosome 7
Chromosomal Location 96730958-96958158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96953445 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Gab2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-02-04