Incidental Mutation 'IGL01932:Ffar4'
| ID |
180470 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ffar4
|
| Ensembl Gene |
ENSMUSG00000054200 |
| Gene Name |
free fatty acid receptor 4 |
| Synonyms |
Gpr120, Pgr4, Gpr129, Ffa4, O3far1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL01932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
38085527-38102711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38085978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 135
(E135G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067098]
|
| AlphaFold |
Q7TMA4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067098
AA Change: E135G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063660
Gene: ENSMUSG00000054200
AA Change: E135G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
57 |
321 |
1.7e-39 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygotes for a null allele show altered taste responses to fatty acids. Homozygotes for another null allele develop obesity, liver steatosis, and impaired glucose metabolism, adipogenesis and lipogenesis on a high-fat diet. Homozygotes for a third allele show altered islet somatostatin secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,050,565 (GRCm39) |
|
probably benign |
Het |
| Adipor2 |
G |
A |
6: 119,338,825 (GRCm39) |
H143Y |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,738,146 (GRCm39) |
I12T |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,414,893 (GRCm39) |
|
probably benign |
Het |
| Cadps |
A |
G |
14: 12,373,609 (GRCm38) |
|
probably benign |
Het |
| Cdh22 |
G |
A |
2: 165,012,728 (GRCm39) |
T119M |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,566,825 (GRCm39) |
K2223N |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,156,005 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
T |
C |
6: 47,508,982 (GRCm39) |
T674A |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,824,349 (GRCm39) |
R6694Q |
possibly damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4222 |
A |
G |
2: 89,978,801 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,301,326 (GRCm39) |
N289Y |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,503,705 (GRCm39) |
L1003P |
probably damaging |
Het |
| Mdk |
T |
C |
2: 91,761,461 (GRCm39) |
N72S |
probably damaging |
Het |
| Or2at4 |
T |
A |
7: 99,384,707 (GRCm39) |
I119N |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,425 (GRCm39) |
I137F |
probably damaging |
Het |
| Pafah1b3 |
A |
T |
7: 24,996,516 (GRCm39) |
C56S |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,644,159 (GRCm39) |
I189V |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,884,689 (GRCm39) |
N801S |
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,457 (GRCm39) |
S193T |
possibly damaging |
Het |
| Prkag1 |
A |
G |
15: 98,712,412 (GRCm39) |
I171T |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,350,910 (GRCm39) |
N73S |
probably benign |
Het |
| Rap1b |
A |
T |
10: 117,658,765 (GRCm39) |
F23I |
probably damaging |
Het |
| Scamp2 |
A |
G |
9: 57,468,399 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,714,818 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r17 |
A |
T |
5: 109,574,916 (GRCm39) |
R74S |
probably benign |
Het |
| Wif1 |
G |
T |
10: 120,931,940 (GRCm39) |
C288F |
probably damaging |
Het |
|
| Other mutations in Ffar4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Ffar4
|
APN |
19 |
38,095,837 (GRCm39) |
missense |
probably benign |
|
|
IGL01734:Ffar4
|
APN |
19 |
38,102,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Ffar4
|
APN |
19 |
38,085,903 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02486:Ffar4
|
APN |
19 |
38,102,208 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0047:Ffar4
|
UTSW |
19 |
38,102,452 (GRCm39) |
unclassified |
probably benign |
|
|
R0492:Ffar4
|
UTSW |
19 |
38,085,630 (GRCm39) |
missense |
probably benign |
|
|
R4956:Ffar4
|
UTSW |
19 |
38,086,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5091:Ffar4
|
UTSW |
19 |
38,085,627 (GRCm39) |
missense |
probably benign |
|
|
R5634:Ffar4
|
UTSW |
19 |
38,102,373 (GRCm39) |
unclassified |
probably benign |
|
|
R5756:Ffar4
|
UTSW |
19 |
38,102,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6778:Ffar4
|
UTSW |
19 |
38,102,112 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8030:Ffar4
|
UTSW |
19 |
38,095,839 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9047:Ffar4
|
UTSW |
19 |
38,102,232 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9494:Ffar4
|
UTSW |
19 |
38,086,083 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2014-05-07 |
Incidental Mutation