Incidental Mutation 'R6652:Grap2'
| ID |
528113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grap2
|
| Ensembl Gene |
ENSMUSG00000042351 |
| Gene Name |
GRB2-related adaptor protein 2 |
| Synonyms |
P38, Gads, Grb2-related adaptor downstream of Sch, Mona, Grf40, GRB2L, GrbX, GRAP-2, GrpL, GRID |
| MMRRC Submission |
044773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R6652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80456798-80537055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80532723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 297
(N297Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043149]
[ENSMUST00000229980]
[ENSMUST00000230856]
|
| AlphaFold |
O89100 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043149
AA Change: N297Y
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046532
Gene: ENSMUSG00000042351
AA Change: N297Y
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
55 |
3.48e-16 |
SMART |
|
SH2
|
56 |
138 |
7.49e-32 |
SMART |
|
low complexity region
|
193 |
216 |
N/A |
INTRINSIC |
|
SH3
|
266 |
321 |
4.31e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183708
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229980
AA Change: N297Y
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230856
|
| Meta Mutation Damage Score |
0.3713 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly healthy but display abnormal T cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,164 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,071,806 (GRCm39) |
I294N |
probably benign |
Het |
| Clk3 |
A |
G |
9: 57,669,078 (GRCm39) |
S49P |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,403 (GRCm39) |
V1895A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,229,547 (GRCm39) |
D1847G |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,103,138 (GRCm39) |
D359G |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,289 (GRCm39) |
M284K |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,091,079 (GRCm39) |
Y211C |
probably damaging |
Het |
| Espnl |
A |
C |
1: 91,272,421 (GRCm39) |
I594L |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,690,603 (GRCm39) |
S226P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,143,088 (GRCm39) |
I4254L |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,371,631 (GRCm39) |
Y108C |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,619 (GRCm39) |
T65S |
probably benign |
Het |
| Gm9507 |
A |
T |
10: 77,647,493 (GRCm39) |
|
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,891,609 (GRCm39) |
F2302S |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,884,051 (GRCm39) |
I67F |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,060,059 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,730 (GRCm39) |
S215T |
probably benign |
Het |
| Mc1r |
G |
A |
8: 124,134,370 (GRCm39) |
G41D |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,878,105 (GRCm39) |
Y129C |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,560 (GRCm39) |
L337Q |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,368,977 (GRCm39) |
A629V |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,364,955 (GRCm39) |
M250K |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,163,233 (GRCm39) |
H92Y |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Or6y1 |
G |
A |
1: 174,276,627 (GRCm39) |
C146Y |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,063,974 (GRCm39) |
V2100E |
probably damaging |
Het |
| Prss37 |
C |
A |
6: 40,496,090 (GRCm39) |
|
probably benign |
Het |
| Sebox |
A |
T |
11: 78,394,631 (GRCm39) |
E32V |
probably damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,257 (GRCm39) |
Q194K |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Spart |
G |
A |
3: 55,032,248 (GRCm39) |
E361K |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,496,017 (GRCm39) |
T334A |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,164,017 (GRCm39) |
D112G |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,212,441 (GRCm39) |
D28V |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,196,743 (GRCm39) |
N872K |
possibly damaging |
Het |
| Vezt |
A |
G |
10: 93,806,141 (GRCm39) |
F757L |
probably damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,573 (GRCm39) |
I68T |
probably damaging |
Het |
| Wnt10a |
A |
G |
1: 74,842,613 (GRCm39) |
|
probably null |
Het |
| Yipf7 |
A |
G |
5: 69,698,504 (GRCm39) |
M1T |
probably null |
Het |
| Zdhhc19 |
T |
C |
16: 32,316,047 (GRCm39) |
F48S |
probably damaging |
Het |
| Zfp317 |
C |
T |
9: 19,558,335 (GRCm39) |
T183I |
probably damaging |
Het |
|
| Other mutations in Grap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01727:Grap2
|
APN |
15 |
80,518,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Grap2
|
APN |
15 |
80,532,076 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02347:Grap2
|
APN |
15 |
80,530,557 (GRCm39) |
splice site |
probably benign |
|
|
IGL02561:Grap2
|
APN |
15 |
80,532,049 (GRCm39) |
splice site |
probably benign |
|
|
Aquavit
|
UTSW |
15 |
80,527,874 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Grappa
|
UTSW |
15 |
80,532,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1465:Grap2
|
UTSW |
15 |
80,532,612 (GRCm39) |
splice site |
probably null |
|
|
R1465:Grap2
|
UTSW |
15 |
80,532,612 (GRCm39) |
splice site |
probably null |
|
|
R1591:Grap2
|
UTSW |
15 |
80,532,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Grap2
|
UTSW |
15 |
80,530,444 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2862:Grap2
|
UTSW |
15 |
80,532,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3801:Grap2
|
UTSW |
15 |
80,507,947 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3804:Grap2
|
UTSW |
15 |
80,507,947 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4838:Grap2
|
UTSW |
15 |
80,522,762 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5090:Grap2
|
UTSW |
15 |
80,522,683 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5119:Grap2
|
UTSW |
15 |
80,530,345 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5121:Grap2
|
UTSW |
15 |
80,530,345 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6873:Grap2
|
UTSW |
15 |
80,527,874 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7082:Grap2
|
UTSW |
15 |
80,532,699 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7512:Grap2
|
UTSW |
15 |
80,532,754 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7571:Grap2
|
UTSW |
15 |
80,527,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Grap2
|
UTSW |
15 |
80,532,140 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8833:Grap2
|
UTSW |
15 |
80,522,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATAGATCTAGAAGCTCACGGC -3'
(R):5'- TTTGTGTACTCGGGCACACATG -3'
Sequencing Primer
(F):5'- CACGGCTCCTCTGTGTGATAG -3'
(R):5'- CTAAGCCTTGCAGTACGA -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation