Incidental Mutation 'R7616:Ffar2'
| ID |
588914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ffar2
|
| Ensembl Gene |
ENSMUSG00000051314 |
| Gene Name |
free fatty acid receptor 2 |
| Synonyms |
Gpr43 |
| MMRRC Submission |
045716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30517778-30523200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30519357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 61
(L61P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053156]
[ENSMUST00000163504]
[ENSMUST00000168528]
[ENSMUST00000186059]
[ENSMUST00000186339]
[ENSMUST00000186534]
|
| AlphaFold |
Q8VCK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053156
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052600
Gene: ENSMUSG00000051314
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
10 |
284 |
3.1e-8 |
PFAM |
|
Pfam:7tm_1
|
24 |
273 |
1.7e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163504
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127758
Gene: ENSMUSG00000051314
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
10 |
284 |
3.2e-8 |
PFAM |
|
Pfam:7tm_1
|
24 |
277 |
1.2e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168528
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129398
Gene: ENSMUSG00000051314
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
10 |
284 |
3.1e-8 |
PFAM |
|
Pfam:7tm_1
|
24 |
273 |
1.7e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186059
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140484
Gene: ENSMUSG00000051314
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
133 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186339
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140493
Gene: ENSMUSG00000051314
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
8 |
175 |
1.9e-4 |
PFAM |
|
Pfam:7tm_1
|
24 |
179 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186534
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140215
Gene: ENSMUSG00000051314
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
142 |
1.5e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.5539 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a null allele show altered granulocyte and neutrophil physiology and increased inflammation in models of induced colitis, arthritis and asthma, whereas homozygotes for a different null allele show reduced neutrophil recruitment and decreased susceptibility to induced colitis. [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 |
|---|
| 4930563M21Rik |
A |
G |
9: 55,896,738 (GRCm39) |
F290S |
probably benign |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,123 (GRCm39) |
D358G |
probably damaging |
Het |
| A630089N07Rik |
T |
A |
16: 97,867,410 (GRCm39) |
Q184L |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,629,993 (GRCm39) |
R142G |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,420,418 (GRCm39) |
T856A |
probably damaging |
Het |
| Angel1 |
A |
G |
12: 86,764,510 (GRCm39) |
S493P |
probably benign |
Het |
| Arid1b |
C |
G |
17: 5,045,661 (GRCm39) |
P150A |
unknown |
Het |
| Atp8b5 |
T |
A |
4: 43,370,823 (GRCm39) |
|
probably null |
Het |
| Cbfa2t3 |
T |
G |
8: 123,360,076 (GRCm39) |
Q525P |
possibly damaging |
Het |
| Clip4 |
T |
C |
17: 72,141,268 (GRCm39) |
Y541H |
probably benign |
Het |
| Cracr2a |
C |
T |
6: 127,585,660 (GRCm39) |
Q153* |
probably null |
Het |
| Dsp |
G |
T |
13: 38,375,458 (GRCm39) |
C1081F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,915,605 (GRCm39) |
M424K |
probably damaging |
Het |
| Fam120b |
T |
G |
17: 15,623,098 (GRCm39) |
S359A |
possibly damaging |
Het |
| Grm5 |
A |
T |
7: 87,765,409 (GRCm39) |
D879V |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,951 (GRCm39) |
A246E |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,281,633 (GRCm39) |
P1207Q |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,328,168 (GRCm39) |
Y400F |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,022,574 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,574,161 (GRCm39) |
Y746* |
probably null |
Het |
| Mylk |
T |
C |
16: 34,699,927 (GRCm39) |
F430S |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,937,759 (GRCm38) |
C826Y |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,275,092 (GRCm39) |
F51Y |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,617 (GRCm39) |
*328Q |
probably null |
Het |
| Phf2 |
T |
A |
13: 48,961,083 (GRCm39) |
Y869F |
unknown |
Het |
| Psmb7 |
T |
C |
2: 38,523,976 (GRCm39) |
Y133C |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,481,207 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,674 (GRCm39) |
N55I |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,053,037 (GRCm39) |
K73* |
probably null |
Het |
| Sult2a5 |
G |
A |
7: 13,404,607 (GRCm39) |
M281I |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,794,084 (GRCm39) |
M647K |
possibly damaging |
Het |
| Trim66 |
T |
A |
7: 109,082,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,381 (GRCm39) |
I235N |
probably damaging |
Het |
| Vmn1r175 |
T |
A |
7: 23,508,031 (GRCm39) |
I199F |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,404,272 (GRCm39) |
S59P |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfand2a |
A |
T |
5: 139,464,321 (GRCm39) |
N61K |
probably damaging |
Het |
|
| Other mutations in Ffar2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Ffar2
|
APN |
7 |
30,518,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01655:Ffar2
|
APN |
7 |
30,519,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Ffar2
|
UTSW |
7 |
30,518,839 (GRCm39) |
splice site |
probably null |
|
|
R3826:Ffar2
|
UTSW |
7 |
30,519,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3827:Ffar2
|
UTSW |
7 |
30,519,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3828:Ffar2
|
UTSW |
7 |
30,519,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4156:Ffar2
|
UTSW |
7 |
30,519,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6377:Ffar2
|
UTSW |
7 |
30,518,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6987:Ffar2
|
UTSW |
7 |
30,519,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7270:Ffar2
|
UTSW |
7 |
30,518,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7374:Ffar2
|
UTSW |
7 |
30,519,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Ffar2
|
UTSW |
7 |
30,518,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8494:Ffar2
|
UTSW |
7 |
30,519,164 (GRCm39) |
nonsense |
probably null |
|
|
R9117:Ffar2
|
UTSW |
7 |
30,518,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9371:Ffar2
|
UTSW |
7 |
30,518,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Ffar2
|
UTSW |
7 |
30,518,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAGCGATCACTCCATAC -3'
(R):5'- TCTTCCAGAATGACCCCAGACTG -3'
Sequencing Primer
(F):5'- GCGGGATAACTTGTACTGCAC -3'
(R):5'- TGGCACAGTTCCTTGATCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation