Incidental Mutation 'IGL00827:Hcar2'
| ID |
12348 |
| 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 # |
IGL00827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124001633-124003562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124002565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 313
(K313E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057145]
|
| AlphaFold |
Q9EP66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057145
AA Change: K313E
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000054104
Gene: ENSMUSG00000045502
AA Change: K313E
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,837,290 (GRCm39) |
V265A |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,549,393 (GRCm39) |
D803E |
possibly damaging |
Het |
| Camk1d |
G |
A |
2: 5,315,884 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,339,283 (GRCm39) |
K3075E |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,889,830 (GRCm39) |
L229P |
probably damaging |
Het |
| Dntt |
G |
A |
19: 41,028,262 (GRCm39) |
G186D |
probably benign |
Het |
| Epdr1 |
A |
G |
13: 19,778,679 (GRCm39) |
I139T |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,588 (GRCm39) |
|
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,110 (GRCm39) |
C323S |
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,537,414 (GRCm39) |
A34V |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,639,993 (GRCm39) |
I1513F |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,605 (GRCm39) |
M208L |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,545,335 (GRCm39) |
T203A |
probably benign |
Het |
| Rims2 |
G |
A |
15: 39,335,755 (GRCm39) |
G788D |
probably damaging |
Het |
| Slc4a4 |
T |
G |
5: 89,327,545 (GRCm39) |
S626A |
probably benign |
Het |
| Steap4 |
A |
G |
5: 8,026,712 (GRCm39) |
Y225C |
probably damaging |
Het |
|
| Other mutations in Hcar2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01682:Hcar2
|
APN |
5 |
124,002,582 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
2012-12-06 |
Incidental Mutation