Incidental Mutation 'R4539:Hcar2'
| ID |
333446 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4539 (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 G
at 124002793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 237
(F237L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057145]
|
| AlphaFold |
Q9EP66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057145
AA Change: F237L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054104
Gene: ENSMUSG00000045502
AA Change: F237L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,765,793 (GRCm39) |
T702A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,597,460 (GRCm39) |
T762I |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,497,070 (GRCm39) |
M465T |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,169,269 (GRCm39) |
I161V |
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,823,206 (GRCm39) |
G307S |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,623 (GRCm39) |
V707A |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,218,665 (GRCm39) |
Q473* |
probably null |
Het |
| Fut9 |
A |
T |
4: 25,619,793 (GRCm39) |
H340Q |
probably damaging |
Het |
| Gm11554 |
A |
T |
11: 99,695,186 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,452,970 (GRCm39) |
C492* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,613,345 (GRCm39) |
P823L |
possibly damaging |
Het |
| Luzp2 |
A |
T |
7: 54,713,037 (GRCm39) |
Q91L |
probably damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,675,218 (GRCm39) |
H117L |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,276,478 (GRCm39) |
L1209P |
probably damaging |
Het |
| Myo3b |
T |
G |
2: 69,869,491 (GRCm39) |
M1R |
probably null |
Het |
| Nacad |
A |
T |
11: 6,550,677 (GRCm39) |
V838E |
possibly damaging |
Het |
| Neurl1a |
T |
A |
19: 47,245,183 (GRCm39) |
S458T |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,470 (GRCm39) |
D874G |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,915 (GRCm39) |
T292A |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,219,699 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppih |
A |
G |
4: 119,177,656 (GRCm39) |
S6P |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,411,399 (GRCm39) |
E308G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,069,760 (GRCm39) |
T2522A |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,878,591 (GRCm39) |
M332K |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,514 (GRCm39) |
V745A |
probably benign |
Het |
| Swi5 |
T |
C |
2: 32,169,092 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,607 (GRCm39) |
T1689A |
probably damaging |
Het |
| Ttll9 |
C |
T |
2: 152,836,011 (GRCm39) |
R252C |
probably damaging |
Het |
| Vars2 |
T |
A |
17: 35,977,780 (GRCm39) |
E80V |
probably damaging |
Het |
| Zbtb39 |
G |
A |
10: 127,578,061 (GRCm39) |
D212N |
possibly damaging |
Het |
| Zfp418 |
C |
A |
7: 7,184,276 (GRCm39) |
Q80K |
probably benign |
Het |
| Zscan25 |
A |
G |
5: 145,225,201 (GRCm39) |
D259G |
probably benign |
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 |
|
R3014:Hcar2
|
UTSW |
5 |
124,002,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3853:Hcar2
|
UTSW |
5 |
124,002,475 (GRCm39) |
missense |
probably benign |
|
|
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'- AGCGGTTGATACACGTGGAG -3'
(R):5'- AGCTTCAGCATCTGTTACAACTTC -3'
Sequencing Primer
(F):5'- TTGATACACGTGGAGAAGAAGTTG -3'
(R):5'- TTACAACTTCAGGTGGCACG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation