Incidental Mutation 'R0942:Grb7'
ID |
82761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grb7
|
Ensembl Gene |
ENSMUSG00000019312 |
Gene Name |
growth factor receptor bound protein 7 |
Synonyms |
|
MMRRC Submission |
039081-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0942 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
98337660-98346199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98344634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 346
(Y346H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019456]
[ENSMUST00000132771]
|
AlphaFold |
Q03160 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019456
AA Change: Y346H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000019456 Gene: ENSMUSG00000019312 AA Change: Y346H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
RA
|
99 |
185 |
1.22e-17 |
SMART |
PH
|
229 |
343 |
1.19e-11 |
SMART |
Pfam:BPS
|
368 |
415 |
3.6e-31 |
PFAM |
SH2
|
432 |
521 |
4.34e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127914
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129034
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132771
|
SMART Domains |
Protein: ENSMUSP00000119926 Gene: ENSMUSG00000019312
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
Pfam:RA
|
99 |
138 |
6.9e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156328
|
Meta Mutation Damage Score |
0.2259 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
95% (40/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
Aass |
C |
T |
6: 23,075,151 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
C |
A |
12: 118,869,933 (GRCm39) |
V742F |
possibly damaging |
Het |
Abcd4 |
A |
G |
12: 84,659,602 (GRCm39) |
I165T |
probably damaging |
Het |
Acer3 |
T |
C |
7: 97,906,949 (GRCm39) |
Y119C |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,568,789 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
A |
11: 4,618,380 (GRCm39) |
I325N |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,074,591 (GRCm39) |
I1050N |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,912,742 (GRCm39) |
V245A |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,263,561 (GRCm39) |
D1270V |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,246,639 (GRCm39) |
M936K |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,792,666 (GRCm39) |
|
probably benign |
Het |
Dner |
T |
C |
1: 84,563,030 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,124,609 (GRCm39) |
R555* |
probably null |
Het |
Enpp4 |
A |
T |
17: 44,412,772 (GRCm39) |
L254* |
probably null |
Het |
Erich3 |
T |
A |
3: 154,444,788 (GRCm39) |
D518E |
probably benign |
Het |
Gli2 |
G |
A |
1: 118,765,236 (GRCm39) |
R972C |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Heg1 |
T |
C |
16: 33,581,173 (GRCm39) |
L1192P |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,312,349 (GRCm39) |
Q445L |
probably benign |
Het |
Il17d |
C |
T |
14: 57,779,777 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,520,301 (GRCm39) |
N1936K |
probably benign |
Het |
Lrrc45 |
T |
C |
11: 120,609,064 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mphosph9 |
T |
A |
5: 124,400,100 (GRCm39) |
R934* |
probably null |
Het |
Nek11 |
T |
A |
9: 105,172,570 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,329,537 (GRCm39) |
S634P |
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,314 (GRCm39) |
M148K |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,396,355 (GRCm39) |
V1959A |
probably benign |
Het |
Pkp2 |
G |
T |
16: 16,043,894 (GRCm39) |
G216V |
probably benign |
Het |
Ppp1r16a |
T |
C |
15: 76,578,211 (GRCm39) |
L394P |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,996,139 (GRCm39) |
Q1070* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
A |
T |
3: 95,672,730 (GRCm39) |
I891N |
probably damaging |
Het |
Speer1e |
A |
T |
5: 11,236,488 (GRCm39) |
T174S |
probably benign |
Het |
Taf15 |
T |
C |
11: 83,389,932 (GRCm39) |
I40T |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,178 (GRCm39) |
Y1077H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,693,833 (GRCm39) |
E223G |
possibly damaging |
Het |
|
Other mutations in Grb7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01366:Grb7
|
APN |
11 |
98,343,100 (GRCm39) |
unclassified |
probably benign |
|
IGL01567:Grb7
|
APN |
11 |
98,345,776 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01958:Grb7
|
APN |
11 |
98,345,480 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03115:Grb7
|
APN |
11 |
98,341,945 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Grb7
|
UTSW |
11 |
98,344,655 (GRCm39) |
nonsense |
probably null |
|
R0455:Grb7
|
UTSW |
11 |
98,343,014 (GRCm39) |
missense |
probably benign |
0.00 |
R0586:Grb7
|
UTSW |
11 |
98,344,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R2960:Grb7
|
UTSW |
11 |
98,343,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R3981:Grb7
|
UTSW |
11 |
98,345,391 (GRCm39) |
unclassified |
probably benign |
|
R4194:Grb7
|
UTSW |
11 |
98,345,881 (GRCm39) |
unclassified |
probably benign |
|
R4809:Grb7
|
UTSW |
11 |
98,342,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6033:Grb7
|
UTSW |
11 |
98,346,023 (GRCm39) |
splice site |
probably null |
|
R7120:Grb7
|
UTSW |
11 |
98,345,817 (GRCm39) |
missense |
probably benign |
|
R9280:Grb7
|
UTSW |
11 |
98,345,248 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Grb7
|
UTSW |
11 |
98,345,310 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Grb7
|
UTSW |
11 |
98,344,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCAAGGTGAGACGCCTGGAATG -3'
(R):5'- TTATCAATGACACGCCCCGCATGG -3'
Sequencing Primer
(F):5'- ACGCCTGGAATGGCTGTG -3'
(R):5'- AGTCCATAGCCACTAGGGTATTG -3'
|
Posted On |
2013-11-08 |