Incidental Mutation 'R6873:Grap2'
ID |
536276 |
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 |
044970-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R6873 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
80456798-80537055 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80527874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 107
(V107I)
|
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: V107I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046532 Gene: ENSMUSG00000042351 AA Change: V107I
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: V107I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230856
|
Meta Mutation Damage Score |
0.4523 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
98% (48/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss1 |
A |
G |
12: 112,599,138 (GRCm39) |
D123G |
probably benign |
Het |
Agbl4 |
A |
G |
4: 111,423,856 (GRCm39) |
D294G |
possibly damaging |
Het |
Apob |
G |
T |
12: 8,065,995 (GRCm39) |
M4288I |
probably benign |
Het |
Arnt |
T |
G |
3: 95,381,886 (GRCm39) |
F160V |
probably damaging |
Het |
Atp5f1a |
C |
T |
18: 77,863,540 (GRCm39) |
R42* |
probably null |
Het |
Bhlha15 |
A |
G |
5: 144,128,203 (GRCm39) |
D105G |
probably benign |
Het |
C6 |
A |
G |
15: 4,820,461 (GRCm39) |
T491A |
probably benign |
Het |
Calhm5 |
G |
C |
10: 33,968,448 (GRCm39) |
R202G |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,723,153 (GRCm39) |
E647G |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,283,993 (GRCm39) |
D1579G |
unknown |
Het |
Dctn2 |
T |
G |
10: 127,112,105 (GRCm39) |
|
probably null |
Het |
Eqtn |
A |
G |
4: 94,815,258 (GRCm39) |
V80A |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,802,803 (GRCm39) |
|
probably null |
Het |
Fbxo10 |
T |
C |
4: 45,041,787 (GRCm39) |
D814G |
possibly damaging |
Het |
Galnt10 |
A |
G |
11: 57,672,045 (GRCm39) |
D445G |
probably damaging |
Het |
Gm6309 |
T |
C |
5: 146,104,998 (GRCm39) |
D305G |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,235,865 (GRCm39) |
A1439T |
probably benign |
Het |
Krt5 |
G |
A |
15: 101,621,312 (GRCm39) |
|
probably benign |
Het |
Lancl2 |
A |
G |
6: 57,699,642 (GRCm39) |
I152M |
possibly damaging |
Het |
Mast3 |
A |
T |
8: 71,239,236 (GRCm39) |
C447* |
probably null |
Het |
Mef2b |
A |
G |
8: 70,618,957 (GRCm39) |
I180V |
probably benign |
Het |
Mon1b |
T |
C |
8: 114,368,697 (GRCm39) |
Y533H |
probably damaging |
Het |
Mst1r |
A |
T |
9: 107,788,843 (GRCm39) |
H454L |
possibly damaging |
Het |
Nhlrc4 |
G |
A |
17: 26,162,496 (GRCm39) |
Q84* |
probably null |
Het |
Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
Nlrp6 |
T |
C |
7: 140,503,433 (GRCm39) |
I513T |
probably benign |
Het |
Or1j12 |
A |
T |
2: 36,343,508 (GRCm39) |
I304F |
probably benign |
Het |
Or2n1 |
A |
T |
17: 38,486,259 (GRCm39) |
M95L |
probably benign |
Het |
Or4c108 |
T |
C |
2: 88,803,768 (GRCm39) |
T156A |
probably benign |
Het |
Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
Pfkfb4 |
A |
C |
9: 108,839,403 (GRCm39) |
|
probably null |
Het |
Setbp1 |
A |
G |
18: 78,902,774 (GRCm39) |
S298P |
probably benign |
Het |
Sh3bgr |
A |
C |
16: 96,007,691 (GRCm39) |
K19Q |
probably damaging |
Het |
Slc35c2 |
T |
C |
2: 165,124,729 (GRCm39) |
D82G |
possibly damaging |
Het |
Spata13 |
T |
A |
14: 60,929,406 (GRCm39) |
D321E |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,697,230 (GRCm39) |
|
probably null |
Het |
Sulf2 |
T |
A |
2: 165,931,195 (GRCm39) |
I271F |
probably damaging |
Het |
Sult2a5 |
A |
T |
7: 13,359,311 (GRCm39) |
I96L |
probably benign |
Het |
Sv2b |
A |
G |
7: 74,855,954 (GRCm39) |
F112S |
probably damaging |
Het |
Sycp1 |
G |
A |
3: 102,748,296 (GRCm39) |
T832I |
probably benign |
Het |
Tm9sf2 |
A |
T |
14: 122,382,525 (GRCm39) |
E179V |
probably damaging |
Het |
Tmem209 |
A |
G |
6: 30,508,455 (GRCm39) |
I66T |
probably damaging |
Het |
Tspan10 |
T |
C |
11: 120,335,549 (GRCm39) |
W220R |
probably damaging |
Het |
Ttc39b |
G |
C |
4: 83,164,513 (GRCm39) |
N266K |
probably damaging |
Het |
Uri1 |
A |
T |
7: 37,664,764 (GRCm39) |
D309E |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
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 |
R6652:Grap2
|
UTSW |
15 |
80,532,723 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- GGGACATAGCTGCTTGTCTG -3'
(R):5'- CTGGCCTGGAGTTTATCTGAACC -3'
Sequencing Primer
(F):5'- CAGACAGAGTGGAATCGTTACTTC -3'
(R):5'- CCTGGAGTTTATCTGAACCTAAGGC -3'
|
Posted On |
2018-10-18 |