Incidental Mutation 'IGL01727:Grap2'
| ID |
105328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
IGL01727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
80456798-80537055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80518610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 51
(I51T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043149]
[ENSMUST00000229980]
[ENSMUST00000230573]
[ENSMUST00000230856]
|
| AlphaFold |
O89100 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043149
AA Change: I51T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046532
Gene: ENSMUSG00000042351
AA Change: I51T
| 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 |
probably damaging
Transcript: ENSMUST00000229980
AA Change: I51T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230910
|
| 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 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
| Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
| Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
| Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
| Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
| Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
| Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
| Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
| Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
| Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
| Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
| Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
| Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
| Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
| Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
| Other mutations in Grap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6652:Grap2
|
UTSW |
15 |
80,532,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation