Incidental Mutation 'R0681:Grb14'
| ID |
60954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grb14
|
| Ensembl Gene |
ENSMUSG00000026888 |
| Gene Name |
growth factor receptor bound protein 14 |
| Synonyms |
|
| MMRRC Submission |
038866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R0681 (G1)
|
| Quality Score |
141 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
64742820-64853143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64747631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 10
(A10E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028252]
[ENSMUST00000149193]
[ENSMUST00000150643]
|
| AlphaFold |
Q9JLM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028252
AA Change: A376E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028252
Gene: ENSMUSG00000026888
AA Change: A376E
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
104 |
190 |
2.88e-23 |
SMART |
|
PH
|
233 |
342 |
1.91e-10 |
SMART |
|
Pfam:BPS
|
367 |
415 |
1.5e-31 |
PFAM |
|
SH2
|
435 |
524 |
5.34e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134020
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149193
|
| SMART Domains |
Protein: ENSMUSP00000118115
Gene: ENSMUSG00000026888
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BPS
|
1 |
24 |
3e-13 |
PFAM |
|
SH2
|
44 |
108 |
2.54e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150643
AA Change: A10E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121571
Gene: ENSMUSG00000026888
AA Change: A10E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BPS
|
1 |
49 |
3.1e-34 |
PFAM |
|
SCOP:d1a81a2
|
51 |
93 |
3e-8 |
SMART |
|
Blast:RA
|
61 |
93 |
1e-12 |
BLAST |
|
PDB:2AUG|B
|
65 |
93 |
4e-12 |
PDB |
|
| Meta Mutation Damage Score |
0.5655 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| 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 insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,249 (GRCm39) |
S66T |
probably damaging |
Het |
| Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
| Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
| Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
| Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
| Naprt |
G |
A |
15: 75,765,481 (GRCm39) |
P120S |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,250,907 (GRCm39) |
E62G |
probably null |
Het |
| Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
| Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
| Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
| Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
| Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,502,353 (GRCm39) |
V30A |
possibly damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
| Rab26 |
A |
G |
17: 24,746,940 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
| Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
| Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
| Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
| Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
| Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
| Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,787 (GRCm39) |
I532M |
probably damaging |
Het |
|
| Other mutations in Grb14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Grb14
|
APN |
2 |
64,745,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02267:Grb14
|
APN |
2 |
64,783,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Grb14
|
APN |
2 |
64,768,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Grb14
|
UTSW |
2 |
64,768,836 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0066:Grb14
|
UTSW |
2 |
64,768,836 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0658:Grb14
|
UTSW |
2 |
64,745,071 (GRCm39) |
nonsense |
probably null |
|
|
R1215:Grb14
|
UTSW |
2 |
64,747,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1781:Grb14
|
UTSW |
2 |
64,805,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1932:Grb14
|
UTSW |
2 |
64,743,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Grb14
|
UTSW |
2 |
64,753,873 (GRCm39) |
splice site |
probably benign |
|
|
R4405:Grb14
|
UTSW |
2 |
64,783,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4505:Grb14
|
UTSW |
2 |
64,852,912 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4580:Grb14
|
UTSW |
2 |
64,783,947 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5216:Grb14
|
UTSW |
2 |
64,747,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5367:Grb14
|
UTSW |
2 |
64,747,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5369:Grb14
|
UTSW |
2 |
64,747,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5382:Grb14
|
UTSW |
2 |
64,745,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Grb14
|
UTSW |
2 |
64,747,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Grb14
|
UTSW |
2 |
64,747,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Grb14
|
UTSW |
2 |
64,852,964 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7114:Grb14
|
UTSW |
2 |
64,747,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Grb14
|
UTSW |
2 |
64,805,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8540:Grb14
|
UTSW |
2 |
64,851,478 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9318:Grb14
|
UTSW |
2 |
64,852,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Grb14
|
UTSW |
2 |
64,768,744 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9572:Grb14
|
UTSW |
2 |
64,763,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0021:Grb14
|
UTSW |
2 |
64,766,769 (GRCm39) |
missense |
probably null |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCATCCCATGTGACCGTATCTA -3'
(R):5'- atgacacttacagggacccTGGCA -3'
Sequencing Primer
(F):5'- GTGATTCCCCAGGCGTAAAC -3'
(R):5'- gggacccTGGCAGCATC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation