Incidental Mutation 'R5506:Gab2'
| ID |
430922 |
| 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 |
043067-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R5506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
96730958-96958158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96952320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 571
(E571G)
|
| 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: E572G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: E572G
| 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: E571G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1845 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
| Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
| Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
| Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
| Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
| Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
| Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
| H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
| Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
| Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
| Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
| Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
| Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
| Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
| Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
| Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
| Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
| Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
| Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
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 |
|
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'- TGAAACTCAGGTGAGAGGCC -3'
(R):5'- TGTCTCTCCAAGGACACCCATC -3'
Sequencing Primer
(F):5'- CCAGGTCTGGGGTTAAGAAC -3'
(R):5'- CTTTAAAACACAGATGTCCTTGGGGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation