Incidental Mutation 'R3014:Hcar2'
| ID |
257593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcar2
|
| Ensembl Gene |
ENSMUSG00000045502 |
| Gene Name |
hydroxycarboxylic acid receptor 2 |
| Synonyms |
HM74, Niacr1, Gpr109a, PUMA-G, Pumag, Gpr109b |
| MMRRC Submission |
040535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R3014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124001633-124003562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124002768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 245
(V245E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057145]
|
| AlphaFold |
Q9EP66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057145
AA Change: V245E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000054104
Gene: ENSMUSG00000045502
AA Change: V245E
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
G |
T |
2: 151,771,517 (GRCm39) |
V278L |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,633,827 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,321,304 (GRCm39) |
N3921K |
probably benign |
Het |
| Duxf4 |
G |
A |
10: 58,071,356 (GRCm39) |
T286I |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,623,016 (GRCm39) |
E1201D |
probably benign |
Het |
| Gm10220 |
G |
C |
5: 26,322,826 (GRCm39) |
D195E |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,922,857 (GRCm39) |
K607E |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,886,288 (GRCm39) |
D662V |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,464,294 (GRCm39) |
I556T |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hmces |
T |
G |
6: 87,894,823 (GRCm39) |
D62E |
probably benign |
Het |
| Ighv1-4 |
T |
A |
12: 114,450,769 (GRCm39) |
Y113F |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kng1 |
C |
T |
16: 22,898,120 (GRCm39) |
H507Y |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,412,821 (GRCm39) |
I76M |
possibly damaging |
Het |
| Map3k5 |
A |
T |
10: 19,970,175 (GRCm39) |
Y694F |
probably damaging |
Het |
| Myo1a |
T |
G |
10: 127,552,214 (GRCm39) |
F778V |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or1ad1 |
A |
G |
11: 50,875,534 (GRCm39) |
D2G |
probably benign |
Het |
| Or4l1 |
G |
A |
14: 50,166,489 (GRCm39) |
H171Y |
probably benign |
Het |
| Or6aa1 |
A |
G |
7: 86,043,884 (GRCm39) |
V274A |
probably benign |
Het |
| Or6z6 |
A |
T |
7: 6,491,470 (GRCm39) |
Y134* |
probably null |
Het |
| Parp3 |
C |
A |
9: 106,348,514 (GRCm39) |
S507I |
possibly damaging |
Het |
| Ppip5k2 |
T |
A |
1: 97,671,800 (GRCm39) |
T491S |
probably damaging |
Het |
| Psmg1 |
T |
A |
16: 95,781,248 (GRCm39) |
I266F |
probably damaging |
Het |
| Ptpn23 |
T |
C |
9: 110,218,763 (GRCm39) |
T476A |
probably benign |
Het |
| Rttn |
G |
C |
18: 89,032,744 (GRCm39) |
V671L |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,508,990 (GRCm39) |
E235G |
unknown |
Het |
| Sv2a |
G |
A |
3: 96,096,751 (GRCm39) |
W416* |
probably null |
Het |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 35,914,800 (GRCm39) |
T2245A |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,319,627 (GRCm39) |
H451L |
possibly damaging |
Het |
| Xkr6 |
T |
C |
14: 64,056,793 (GRCm39) |
Y235H |
unknown |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTCTTTCGAAGGCAGCG -3'
(R):5'- ACAACTTCAGGTGGCACGATG -3'
Sequencing Primer
(F):5'- CTTTCGAAGGCAGCGGTTGATAC -3'
(R):5'- CAGGTGGCACGATGCTATG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation