Incidental Mutation 'R5479:Frs3'
| ID |
434242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frs3
|
| Ensembl Gene |
ENSMUSG00000023266 |
| Gene Name |
fibroblast growth factor receptor substrate 3 |
| Synonyms |
4930417B13Rik, Frs2beta, SNT2 |
| MMRRC Submission |
043040-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R5479 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
47999955-48015211 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48012635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 114
(E114G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113296]
[ENSMUST00000156118]
|
| AlphaFold |
Q91WJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113296
AA Change: E114G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: E114G
| Domain | Start | End | E-Value | Type |
|---|
|
IRS
|
17 |
110 |
4.31e-33 |
SMART |
|
PTBI
|
18 |
110 |
1.23e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139405
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156118
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
G |
T |
19: 55,268,894 (GRCm39) |
C185F |
probably damaging |
Het |
| Adad2 |
C |
A |
8: 120,341,654 (GRCm39) |
T185N |
possibly damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,232 (GRCm39) |
V315E |
probably damaging |
Het |
| Arfrp1 |
T |
C |
2: 181,006,191 (GRCm39) |
T32A |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,253,999 (GRCm39) |
S41P |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,721,743 (GRCm39) |
|
probably null |
Het |
| Chd8 |
C |
T |
14: 52,452,652 (GRCm39) |
G1289D |
probably benign |
Het |
| Ctrl |
A |
G |
8: 106,659,672 (GRCm39) |
F59S |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,763,243 (GRCm39) |
D356V |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,565,541 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,262,265 (GRCm39) |
Y2043H |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,400,244 (GRCm39) |
T88A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,489,912 (GRCm39) |
D3608G |
possibly damaging |
Het |
| Fmo1 |
T |
C |
1: 162,677,793 (GRCm39) |
T108A |
probably damaging |
Het |
| Ftcd |
A |
T |
10: 76,413,850 (GRCm39) |
M85L |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,745,169 (GRCm39) |
S189G |
probably benign |
Het |
| Gm3629 |
C |
T |
14: 17,875,765 (GRCm39) |
R35H |
unknown |
Het |
| Gnai2 |
T |
G |
9: 107,512,365 (GRCm39) |
M18L |
probably benign |
Het |
| Gpx5 |
T |
C |
13: 21,476,805 (GRCm39) |
Y9C |
probably benign |
Het |
| Grik1 |
C |
A |
16: 87,732,914 (GRCm39) |
A668S |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,445,011 (GRCm39) |
M83L |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,156,075 (GRCm39) |
R227G |
probably benign |
Het |
| Maz |
A |
T |
7: 126,624,860 (GRCm39) |
V197D |
possibly damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,917 (GRCm39) |
V241A |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,701,950 (GRCm39) |
C417Y |
probably damaging |
Het |
| Mios |
C |
T |
6: 8,215,314 (GRCm39) |
T170I |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,239,648 (GRCm39) |
A733T |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfs1 |
G |
A |
2: 155,970,422 (GRCm39) |
T297I |
probably damaging |
Het |
| Nrbf2 |
A |
G |
10: 67,120,870 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
C |
8: 32,308,405 (GRCm39) |
Y537C |
probably damaging |
Het |
| Onecut3 |
T |
A |
10: 80,349,856 (GRCm39) |
L450Q |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,035 (GRCm39) |
D302G |
probably benign |
Het |
| Pard3 |
G |
A |
8: 128,096,836 (GRCm39) |
R333Q |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,861,552 (GRCm39) |
F962L |
probably benign |
Het |
| Pilra |
A |
G |
5: 137,834,318 (GRCm39) |
S22P |
possibly damaging |
Het |
| Piwil4 |
T |
C |
9: 14,616,337 (GRCm39) |
Y673C |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,476,181 (GRCm39) |
D1134N |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,909,453 (GRCm39) |
V681A |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,931,648 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
C |
T |
6: 23,001,665 (GRCm39) |
L1252F |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,646,625 (GRCm39) |
E1999G |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,780,714 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,904,801 (GRCm39) |
V789A |
possibly damaging |
Het |
| Zfp148 |
C |
A |
16: 33,317,589 (GRCm39) |
Q712K |
probably damaging |
Het |
|
| Other mutations in Frs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0310:Frs3
|
UTSW |
17 |
48,014,747 (GRCm39) |
missense |
probably benign |
|
|
R0575:Frs3
|
UTSW |
17 |
48,014,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0638:Frs3
|
UTSW |
17 |
48,012,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1519:Frs3
|
UTSW |
17 |
48,013,903 (GRCm39) |
missense |
probably benign |
|
|
R1668:Frs3
|
UTSW |
17 |
48,014,147 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2151:Frs3
|
UTSW |
17 |
48,013,987 (GRCm39) |
missense |
probably benign |
|
|
R2517:Frs3
|
UTSW |
17 |
48,013,997 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3548:Frs3
|
UTSW |
17 |
48,014,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Frs3
|
UTSW |
17 |
48,010,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3890:Frs3
|
UTSW |
17 |
48,014,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4981:Frs3
|
UTSW |
17 |
48,000,187 (GRCm39) |
splice site |
probably null |
|
|
R4996:Frs3
|
UTSW |
17 |
48,012,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Frs3
|
UTSW |
17 |
48,003,233 (GRCm39) |
intron |
probably benign |
|
|
R5990:Frs3
|
UTSW |
17 |
48,012,602 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6102:Frs3
|
UTSW |
17 |
48,013,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Frs3
|
UTSW |
17 |
48,000,013 (GRCm39) |
start gained |
probably benign |
|
|
R7219:Frs3
|
UTSW |
17 |
48,013,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Frs3
|
UTSW |
17 |
48,010,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7404:Frs3
|
UTSW |
17 |
48,013,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7962:Frs3
|
UTSW |
17 |
48,010,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8021:Frs3
|
UTSW |
17 |
48,014,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Frs3
|
UTSW |
17 |
48,014,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Frs3
|
UTSW |
17 |
48,009,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Frs3
|
UTSW |
17 |
48,009,546 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTATACCTGGATGAAGGG -3'
(R):5'- CCTCAGGAATGGTTCTGACG -3'
Sequencing Primer
(F):5'- GGCACCTACCCATGGTTTTC -3'
(R):5'- CCTTAGCTCGTGTGTGTA -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation