Incidental Mutation 'IGL02664:Gab2'
ID 302667
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 # IGL02664
Quality Score
Status
Chromosome 7
Chromosomal Location 96730958-96958158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 96953389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 587 (S587R)
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: S588R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: S588R

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: S587R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 36,006,860 (GRCm39) D425V probably damaging Het
Afdn G T 17: 14,072,728 (GRCm39) probably benign Het
Afg2a A G 3: 37,490,814 (GRCm39) D453G probably damaging Het
Ap2a2 C T 7: 141,209,136 (GRCm39) T776I probably benign Het
Apcdd1 T C 18: 63,084,891 (GRCm39) probably benign Het
Bdp1 A T 13: 100,188,047 (GRCm39) Y1513N probably benign Het
Btaf1 T C 19: 36,955,828 (GRCm39) probably benign Het
C2cd3 A T 7: 100,068,922 (GRCm39) M917L possibly damaging Het
Cmtm6 T C 9: 114,575,613 (GRCm39) V174A probably benign Het
Cyp2d12 T A 15: 82,443,535 (GRCm39) I448K probably benign Het
Ddb1 A G 19: 10,585,247 (GRCm39) I101V probably benign Het
Dicer1 A G 12: 104,671,388 (GRCm39) Y961H probably damaging Het
Dnaaf1 T G 8: 120,309,260 (GRCm39) I116S probably damaging Het
Ecscr T A 18: 35,854,451 (GRCm39) I5F possibly damaging Het
Eftud2 T C 11: 102,732,538 (GRCm39) E691G probably damaging Het
Fat2 A G 11: 55,201,922 (GRCm39) V384A probably damaging Het
Ftcd T C 10: 76,420,439 (GRCm39) M391T probably damaging Het
Gm18856 G A 13: 14,139,809 (GRCm39) probably benign Het
Herc2 A T 7: 55,785,426 (GRCm39) R1559* probably null Het
Inpp5f G A 7: 128,265,738 (GRCm39) R161H probably damaging Het
Iws1 A T 18: 32,203,217 (GRCm39) D31V possibly damaging Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
Lce6a A T 3: 92,527,607 (GRCm39) C67S possibly damaging Het
Lrba A G 3: 86,233,038 (GRCm39) I800V possibly damaging Het
Mis18bp1 A C 12: 65,200,654 (GRCm39) Y407* probably null Het
Mllt3 A C 4: 87,949,860 (GRCm39) W29G probably damaging Het
Mon2 A G 10: 122,845,401 (GRCm39) probably benign Het
Mtbp C T 15: 55,483,039 (GRCm39) T372M probably benign Het
Nefm A T 14: 68,357,664 (GRCm39) probably benign Het
Nf1 A T 11: 79,335,424 (GRCm39) probably null Het
Nf1 G A 11: 79,335,425 (GRCm39) probably null Het
Ntn1 T A 11: 68,276,295 (GRCm39) I218F probably benign Het
Numa1 T G 7: 101,648,109 (GRCm39) S613R possibly damaging Het
Or14a259 C T 7: 86,012,811 (GRCm39) V245I possibly damaging Het
Pcsk5 A T 19: 17,434,134 (GRCm39) D1411E probably damaging Het
Prl2b1 G T 13: 27,569,225 (GRCm39) N124K possibly damaging Het
Rab15 T C 12: 76,851,225 (GRCm39) I30M possibly damaging Het
Rnf215 G T 11: 4,090,307 (GRCm39) V342L probably damaging Het
Saxo4 A T 19: 10,459,655 (GRCm39) S17R probably damaging Het
Togaram2 T A 17: 72,036,234 (GRCm39) I908N probably damaging Het
Trim54 A G 5: 31,293,391 (GRCm39) N205S probably damaging Het
Ttn G A 2: 76,697,795 (GRCm39) T80I possibly damaging Het
Vmn2r106 G A 17: 20,488,344 (GRCm39) T685I possibly damaging Het
Vwa5b2 T C 16: 20,414,063 (GRCm39) probably benign Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp40 G A 17: 23,395,960 (GRCm39) S209F probably benign 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
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
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 2015-04-16