Incidental Mutation 'IGL01682:Hcar2'
ID103848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcar2
Ensembl Gene ENSMUSG00000045502
Gene Namehydroxycarboxylic acid receptor 2
SynonymsPUMA-G, Gpr109a, Pumag, Gpr109b, HM74, Niacr1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL01682
Quality Score
Status
Chromosome5
Chromosomal Location123863570-123865499 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123864519 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 307 (N307S)
Ref Sequence ENSEMBL: ENSMUSP00000054104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057145]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo T C 12: 37,357,627 probably benign Het
Atp2c1 C T 9: 105,452,842 G93D probably damaging Het
C2cd6 T G 1: 59,062,501 Y333S probably damaging Het
Cacna1a A G 8: 84,536,438 E414G possibly damaging Het
Capn10 C A 1: 92,940,384 T191K probably benign Het
Cd226 A T 18: 89,269,063 R328S probably damaging Het
Cdk10 A G 8: 123,227,658 probably null Het
Cyp4a31 T A 4: 115,578,031 V486D probably damaging Het
Dgke A T 11: 89,052,441 L241I probably damaging Het
Dnah6 G T 6: 73,075,802 A2965E probably damaging Het
Fbn2 A T 18: 58,072,671 C1112S probably damaging Het
Gm10228 T A 16: 89,041,185 Y77F unknown Het
Gng3 T C 19: 8,838,580 I25V probably benign Het
Gramd2 A G 9: 59,712,110 I61M possibly damaging Het
Iars G A 13: 49,709,658 E529K probably damaging Het
Ilvbl C T 10: 78,577,107 probably benign Het
Lrp1 T C 10: 127,574,978 K1447R probably benign Het
Mmp20 A G 9: 7,671,375 D426G probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr1289 G A 2: 111,483,843 G138S probably damaging Het
Olfr568 C T 7: 102,877,233 L38F probably benign Het
Pip4k2a A G 2: 18,997,968 S10P probably benign Het
Pth1r A T 9: 110,723,706 probably null Het
Rprd1b T C 2: 158,050,160 I201T probably damaging Het
Rsbn1 A G 3: 103,962,380 N719S probably benign Het
Sorcs1 C T 19: 50,181,506 G939E probably benign Het
Ssfa2 A G 2: 79,635,637 Q33R probably damaging Het
St8sia5 A G 18: 77,248,500 K210E probably damaging Het
Trav3-1 G A 14: 52,581,192 V108M probably benign Het
Washc4 T C 10: 83,580,306 I820T possibly damaging Het
Other mutations in Hcar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Hcar2 APN 5 123864502 missense probably benign 0.24
R1450:Hcar2 UTSW 5 123864750 missense probably damaging 0.98
R3014:Hcar2 UTSW 5 123864705 missense probably damaging 1.00
R3853:Hcar2 UTSW 5 123864412 missense probably benign
R4539:Hcar2 UTSW 5 123864730 missense probably damaging 1.00
R4720:Hcar2 UTSW 5 123864689 frame shift probably null
R4784:Hcar2 UTSW 5 123864450 missense probably benign 0.02
R4785:Hcar2 UTSW 5 123864450 missense probably benign 0.02
R4886:Hcar2 UTSW 5 123865197 missense probably benign 0.01
R5632:Hcar2 UTSW 5 123864469 missense probably benign 0.17
R6211:Hcar2 UTSW 5 123864954 missense probably benign 0.01
R6796:Hcar2 UTSW 5 123865267 missense probably benign 0.00
R7341:Hcar2 UTSW 5 123864478 missense possibly damaging 0.66
R7483:Hcar2 UTSW 5 123864798 missense probably benign 0.33
R7497:Hcar2 UTSW 5 123865186 missense probably benign 0.04
R7685:Hcar2 UTSW 5 123865333 missense possibly damaging 0.69
Z1177:Hcar2 UTSW 5 123865206 missense probably damaging 1.00
Posted On2014-01-21