Incidental Mutation 'R3034:Fgr'
ID |
264777 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgr
|
Ensembl Gene |
ENSMUSG00000028874 |
Gene Name |
FGR proto-oncogene, Src family tyrosine kinase |
Synonyms |
Ali18, Mhdaali18 |
MMRRC Submission |
040550-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R3034 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
132701406-132729204 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 132725807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030693]
[ENSMUST00000171223]
[ENSMUST00000171223]
|
AlphaFold |
P14234 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030693
|
SMART Domains |
Protein: ENSMUSP00000030693 Gene: ENSMUSG00000028874
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 |
noncoding transcript
Transcript: ENSMUST00000138179
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171223
|
SMART Domains |
Protein: ENSMUSP00000128411 Gene: ENSMUSG00000028874
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 null
Transcript: ENSMUST00000171223
|
SMART Domains |
Protein: ENSMUSP00000128411 Gene: ENSMUSG00000028874
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 |
|
Meta Mutation Damage Score |
0.9583 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (44/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12e |
T |
C |
11: 70,207,079 (GRCm39) |
I576V |
probably benign |
Het |
Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
Gpr137c |
C |
T |
14: 45,457,733 (GRCm39) |
S95L |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
Nln |
C |
T |
13: 104,173,947 (GRCm39) |
V525I |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,247,553 (GRCm39) |
|
probably null |
Het |
Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,390,881 (GRCm39) |
T202S |
unknown |
Het |
Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
Tmem62 |
C |
T |
2: 120,809,605 (GRCm39) |
|
probably benign |
Het |
Trim71 |
T |
C |
9: 114,341,912 (GRCm39) |
D790G |
probably damaging |
Het |
Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
probably damaging |
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 |
|
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 |
R8238:Fgr
|
UTSW |
4 |
132,724,832 (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'- GCTAGCACCTGCCTCTCAC -3'
(R):5'- GCAGTGCCTGATACTTACTAAGTAG -3'
Sequencing Primer
(F):5'- ACCTGCCTCTCACTTCCTTTC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
|
Posted On |
2015-02-05 |