Incidental Mutation 'R8238:Fgr'
| ID |
637456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgr
|
| Ensembl Gene |
ENSMUSG00000028874 |
| Gene Name |
FGR proto-oncogene, Src family tyrosine kinase |
| Synonyms |
Ali18, Mhdaali18 |
| MMRRC Submission |
067670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R8238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132701406-132729204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132724832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 311
(A311V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030693]
[ENSMUST00000171223]
|
| AlphaFold |
P14234 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030693
AA Change: A311V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030693
Gene: ENSMUSG00000028874
AA Change: A311V
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
68 |
125 |
5.39e-22 |
SMART |
|
SH2
|
130 |
220 |
5.25e-36 |
SMART |
|
TyrKc
|
251 |
500 |
5.5e-126 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171223
AA Change: A311V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128411
Gene: ENSMUSG00000028874
AA Change: A311V
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
68 |
125 |
5.39e-22 |
SMART |
|
SH2
|
130 |
220 |
5.25e-36 |
SMART |
|
TyrKc
|
251 |
500 |
5.5e-126 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial reduction in hemorrhage following induction of a local Shwartzman reaction, and show enhanced NK-cell receptor-induced IFN-gamma production in natural killer (NK) cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
G |
8: 44,103,993 (GRCm39) |
Y551H |
probably damaging |
Het |
| Ak1 |
T |
A |
2: 32,523,681 (GRCm39) |
V198D |
probably damaging |
Het |
| Alx1 |
C |
T |
10: 102,858,076 (GRCm39) |
D208N |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,966,975 (GRCm39) |
E641G |
probably damaging |
Het |
| Atp5f1b |
T |
A |
10: 127,921,019 (GRCm39) |
I182N |
possibly damaging |
Het |
| Cabp5 |
T |
A |
7: 13,139,377 (GRCm39) |
M134K |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,221,764 (GRCm39) |
I227N |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,235,668 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,988,842 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
T |
2: 20,811,342 (GRCm39) |
R1510* |
probably null |
Het |
| Glipr1 |
C |
T |
10: 111,829,345 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
A |
G |
2: 103,898,496 (GRCm39) |
F70L |
probably benign |
Het |
| Gm14412 |
A |
T |
2: 177,007,111 (GRCm39) |
H261Q |
unknown |
Het |
| Hey2 |
T |
A |
10: 30,716,659 (GRCm39) |
M35L |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,149,857 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ipo5 |
A |
T |
14: 121,172,652 (GRCm39) |
K570M |
probably damaging |
Het |
| Iqsec1 |
A |
T |
6: 90,666,912 (GRCm39) |
H404Q |
probably benign |
Het |
| Kif5b |
T |
A |
18: 6,227,619 (GRCm39) |
Q86L |
probably damaging |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,668 (GRCm39) |
I360N |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,003,634 (GRCm39) |
V29E |
probably damaging |
Het |
| Ncstn |
G |
T |
1: 171,900,043 (GRCm39) |
A277E |
probably damaging |
Het |
| Nsun3 |
A |
G |
16: 62,591,076 (GRCm39) |
V189A |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,150,642 (GRCm39) |
D77N |
probably damaging |
Het |
| Or13a27 |
A |
C |
7: 139,925,803 (GRCm39) |
L33W |
probably damaging |
Het |
| Or55b10 |
T |
C |
7: 102,143,827 (GRCm39) |
T52A |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,366 (GRCm39) |
D138G |
probably damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,557,066 (GRCm39) |
H434P |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,406,568 (GRCm39) |
I121T |
probably benign |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc7a14 |
C |
A |
3: 31,281,300 (GRCm39) |
V337L |
probably benign |
Het |
| Tdh |
C |
T |
14: 63,733,173 (GRCm39) |
G206E |
probably damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,640 (GRCm39) |
T92A |
probably benign |
Het |
| Vmn2r36 |
T |
G |
7: 7,892,015 (GRCm39) |
H431P |
probably benign |
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps11 |
T |
C |
9: 44,264,057 (GRCm39) |
T759A |
probably benign |
Het |
| Xdh |
G |
T |
17: 74,193,412 (GRCm39) |
Q1295K |
probably benign |
Het |
|
| Other mutations in Fgr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02201:Fgr
|
APN |
4 |
132,722,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03089:Fgr
|
APN |
4 |
132,713,577 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1760:Fgr
|
UTSW |
4 |
132,725,653 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1957:Fgr
|
UTSW |
4 |
132,725,673 (GRCm39) |
missense |
probably benign |
|
|
R2011:Fgr
|
UTSW |
4 |
132,724,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Fgr
|
UTSW |
4 |
132,725,786 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2351:Fgr
|
UTSW |
4 |
132,724,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2941:Fgr
|
UTSW |
4 |
132,725,734 (GRCm39) |
missense |
probably benign |
|
|
R3034:Fgr
|
UTSW |
4 |
132,725,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4590:Fgr
|
UTSW |
4 |
132,722,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Fgr
|
UTSW |
4 |
132,714,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4847:Fgr
|
UTSW |
4 |
132,721,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Fgr
|
UTSW |
4 |
132,724,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5384:Fgr
|
UTSW |
4 |
132,713,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5388:Fgr
|
UTSW |
4 |
132,722,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Fgr
|
UTSW |
4 |
132,727,533 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6947:Fgr
|
UTSW |
4 |
132,722,380 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7651:Fgr
|
UTSW |
4 |
132,722,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Fgr
|
UTSW |
4 |
132,725,324 (GRCm39) |
missense |
probably benign |
|
|
R7921:Fgr
|
UTSW |
4 |
132,713,832 (GRCm39) |
splice site |
probably null |
|
|
R8011:Fgr
|
UTSW |
4 |
132,725,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Fgr
|
UTSW |
4 |
132,724,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Fgr
|
UTSW |
4 |
132,726,071 (GRCm39) |
intron |
probably benign |
|
|
R8884:Fgr
|
UTSW |
4 |
132,713,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Fgr
|
UTSW |
4 |
132,727,481 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATAGCACTGGAACGCAG -3'
(R):5'- CACCTTCTGTCAAGAGGAGG -3'
Sequencing Primer
(F):5'- CACCGGCTGCTTTGGAGATG -3'
(R):5'- TGTCAAGAGGAGGCCCCG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation