Incidental Mutation 'IGL01682:Hcar2'
| ID |
103848 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hcar2
|
| Ensembl Gene |
ENSMUSG00000045502 |
| Gene Name |
hydroxycarboxylic acid receptor 2 |
| Synonyms |
HM74, Niacr1, Gpr109a, PUMA-G, Pumag, Gpr109b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
IGL01682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124001633-124003562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124002582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 307
(N307S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057145]
|
| AlphaFold |
Q9EP66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057145
AA Change: N307S
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000054104
Gene: ENSMUSG00000045502
AA Change: N307S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
291 |
4.6e-33 |
PFAM |
|
low complexity region
|
293 |
303 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
T |
C |
12: 37,407,626 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,330,041 (GRCm39) |
G93D |
probably damaging |
Het |
| C2cd6 |
T |
G |
1: 59,101,660 (GRCm39) |
Y333S |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,263,067 (GRCm39) |
E414G |
possibly damaging |
Het |
| Capn10 |
C |
A |
1: 92,868,106 (GRCm39) |
T191K |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,287,187 (GRCm39) |
R328S |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,954,397 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,228 (GRCm39) |
V486D |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,943,267 (GRCm39) |
L241I |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,052,785 (GRCm39) |
A2965E |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,205,743 (GRCm39) |
C1112S |
probably damaging |
Het |
| Gm10228 |
T |
A |
16: 88,838,073 (GRCm39) |
Y77F |
unknown |
Het |
| Gng3 |
T |
C |
19: 8,815,944 (GRCm39) |
I25V |
probably benign |
Het |
| Gramd2a |
A |
G |
9: 59,619,393 (GRCm39) |
I61M |
possibly damaging |
Het |
| Iars1 |
G |
A |
13: 49,863,134 (GRCm39) |
E529K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,412,941 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,465,981 (GRCm39) |
Q33R |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,410,847 (GRCm39) |
K1447R |
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,671,376 (GRCm39) |
D426G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,314,188 (GRCm39) |
G138S |
probably damaging |
Het |
| Or51f2 |
C |
T |
7: 102,526,440 (GRCm39) |
L38F |
probably benign |
Het |
| Pip4k2a |
A |
G |
2: 19,002,779 (GRCm39) |
S10P |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,552,774 (GRCm39) |
|
probably null |
Het |
| Rprd1b |
T |
C |
2: 157,892,080 (GRCm39) |
I201T |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,869,696 (GRCm39) |
N719S |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,169,944 (GRCm39) |
G939E |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,336,196 (GRCm39) |
K210E |
probably damaging |
Het |
| Trav3-1 |
G |
A |
14: 52,818,649 (GRCm39) |
V108M |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,416,170 (GRCm39) |
I820T |
possibly damaging |
Het |
|
| Other mutations in Hcar2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00827:Hcar2
|
APN |
5 |
124,002,565 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1450:Hcar2
|
UTSW |
5 |
124,002,813 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3014:Hcar2
|
UTSW |
5 |
124,002,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3853:Hcar2
|
UTSW |
5 |
124,002,475 (GRCm39) |
missense |
probably benign |
|
|
R4539:Hcar2
|
UTSW |
5 |
124,002,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Hcar2
|
UTSW |
5 |
124,002,752 (GRCm39) |
frame shift |
probably null |
|
|
R4784:Hcar2
|
UTSW |
5 |
124,002,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4785:Hcar2
|
UTSW |
5 |
124,002,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4886:Hcar2
|
UTSW |
5 |
124,003,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5632:Hcar2
|
UTSW |
5 |
124,002,532 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6211:Hcar2
|
UTSW |
5 |
124,003,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6796:Hcar2
|
UTSW |
5 |
124,003,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7341:Hcar2
|
UTSW |
5 |
124,002,541 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7483:Hcar2
|
UTSW |
5 |
124,002,861 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7497:Hcar2
|
UTSW |
5 |
124,003,249 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7685:Hcar2
|
UTSW |
5 |
124,003,396 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8429:Hcar2
|
UTSW |
5 |
124,003,538 (GRCm39) |
start gained |
probably benign |
|
|
R8984:Hcar2
|
UTSW |
5 |
124,002,571 (GRCm39) |
nonsense |
probably null |
|
|
R9192:Hcar2
|
UTSW |
5 |
124,003,354 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9384:Hcar2
|
UTSW |
5 |
124,002,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9658:Hcar2
|
UTSW |
5 |
124,002,532 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:Hcar2
|
UTSW |
5 |
124,003,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation