Incidental Mutation 'IGL02349:Or51a39'
ID 289409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51a39
Ensembl Gene ENSMUSG00000066273
Gene Name olfactory receptor family 51 subfamily A member 39
Synonyms MTPCR33, MOR11-2, GA_x6K02T2PBJ9-5431102-5430146, Olfr33
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # IGL02349
Quality Score
Status
Chromosome 7
Chromosomal Location 102362662-102363618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102363333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 96 (R96C)
Ref Sequence ENSEMBL: ENSMUSP00000149588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]
AlphaFold Q8VGX7
Predicted Effect probably damaging
Transcript: ENSMUST00000084817
AA Change: R96C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273
AA Change: R96C

DomainStartEndE-ValueType
Pfam:7tm_4 37 317 2.1e-117 PFAM
Pfam:7TM_GPCR_Srsx 41 211 7.5e-11 PFAM
Pfam:7tm_1 47 299 2.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094124
SMART Domains Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.2e-117 PFAM
Pfam:7TM_GPCR_Srsx 37 308 2.4e-7 PFAM
Pfam:7tm_1 43 293 2.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210002
Predicted Effect probably damaging
Transcript: ENSMUST00000216312
AA Change: R96C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,462 (GRCm39) I484V probably benign Het
Acly C T 11: 100,410,505 (GRCm39) E158K probably benign Het
Akap3 T A 6: 126,837,226 (GRCm39) D3E probably benign Het
Alg8 A G 7: 97,029,101 (GRCm39) N152S possibly damaging Het
Ano7 A G 1: 93,319,212 (GRCm39) T323A probably benign Het
Bmp1 T C 14: 70,744,989 (GRCm39) Y252C possibly damaging Het
Cacnb3 A T 15: 98,538,842 (GRCm39) K159* probably null Het
Capns2 T A 8: 93,628,690 (GRCm39) V193D probably benign Het
Cct2 A G 10: 116,889,044 (GRCm39) I48T probably benign Het
Cep152 A G 2: 125,436,876 (GRCm39) S555P probably damaging Het
Col5a3 T C 9: 20,683,657 (GRCm39) E1533G unknown Het
Cyp17a1 A G 19: 46,655,936 (GRCm39) L451P probably damaging Het
Dgcr8 T C 16: 18,098,170 (GRCm39) E407G possibly damaging Het
Dhx57 T A 17: 80,563,000 (GRCm39) N876Y probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Fgfr2 A G 7: 129,844,336 (GRCm39) Y50H probably damaging Het
Gars1 T A 6: 55,025,049 (GRCm39) probably benign Het
Gfpt2 A T 11: 49,698,530 (GRCm39) I42F probably benign Het
Glcci1 A G 6: 8,558,581 (GRCm39) K35E probably damaging Het
Gpatch1 T A 7: 35,006,680 (GRCm39) M163L probably damaging Het
Gpr132 T C 12: 112,816,475 (GRCm39) Y117C probably damaging Het
Ints1 G A 5: 139,754,223 (GRCm39) P650S probably damaging Het
Itga2b T C 11: 102,352,189 (GRCm39) D464G probably damaging Het
Kansl2 C A 15: 98,427,327 (GRCm39) G185C probably damaging Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Macir A G 1: 97,573,777 (GRCm39) L96P probably damaging Het
Map3k19 T A 1: 127,751,506 (GRCm39) D615V possibly damaging Het
Map3k7cl A G 16: 87,352,901 (GRCm39) probably benign Het
Msto1 A C 3: 88,818,205 (GRCm39) S360R possibly damaging Het
Myo15b C A 11: 115,753,931 (GRCm39) probably benign Het
Nhlrc2 T C 19: 56,580,151 (GRCm39) V428A possibly damaging Het
Or13a28 T C 7: 140,218,384 (GRCm39) F257L probably benign Het
Or1j19 A C 2: 36,677,058 (GRCm39) T174P possibly damaging Het
Or51f2 A T 7: 102,527,116 (GRCm39) Y263F probably benign Het
Or5p51 A G 7: 107,444,812 (GRCm39) S43P probably benign Het
Or8b12 T A 9: 37,657,502 (GRCm39) M24K probably benign Het
Pcm1 G T 8: 41,741,192 (GRCm39) probably null Het
Plekhg3 A T 12: 76,609,074 (GRCm39) N149I probably damaging Het
Rbp3 C A 14: 33,677,676 (GRCm39) H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 (GRCm39) probably null Het
Scyl2 A T 10: 89,493,800 (GRCm39) probably benign Het
Tas2r144 A C 6: 42,193,010 (GRCm39) H250P probably benign Het
Tmppe T C 9: 114,234,268 (GRCm39) V189A probably benign Het
Trp53bp1 G A 2: 121,029,555 (GRCm39) S1875L probably damaging Het
Txnl4a T A 18: 80,261,944 (GRCm39) L60H probably damaging Het
Upp2 A G 2: 58,667,898 (GRCm39) D217G probably benign Het
Vmn2r74 A G 7: 85,601,724 (GRCm39) L638P probably damaging Het
Vnn1 A G 10: 23,774,401 (GRCm39) N148S possibly damaging Het
Xrcc1 C T 7: 24,266,467 (GRCm39) Q241* probably null Het
Zfp990 A G 4: 145,257,447 (GRCm39) probably benign Het
Other mutations in Or51a39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Or51a39 APN 7 102,362,808 (GRCm39) missense probably damaging 1.00
IGL02739:Or51a39 APN 7 102,363,521 (GRCm39) missense possibly damaging 0.58
IGL03110:Or51a39 APN 7 102,363,090 (GRCm39) missense probably damaging 1.00
IGL03014:Or51a39 UTSW 7 102,362,753 (GRCm39) missense probably null 0.91
R0158:Or51a39 UTSW 7 102,363,162 (GRCm39) missense probably benign 0.03
R1455:Or51a39 UTSW 7 102,363,205 (GRCm39) nonsense probably null
R1996:Or51a39 UTSW 7 102,362,999 (GRCm39) missense probably damaging 1.00
R2032:Or51a39 UTSW 7 102,363,083 (GRCm39) missense probably benign 0.00
R2152:Or51a39 UTSW 7 102,362,788 (GRCm39) missense probably benign 0.01
R4852:Or51a39 UTSW 7 102,362,750 (GRCm39) missense probably damaging 0.99
R4965:Or51a39 UTSW 7 102,362,702 (GRCm39) missense probably damaging 1.00
R5264:Or51a39 UTSW 7 102,363,558 (GRCm39) missense probably benign 0.00
R5464:Or51a39 UTSW 7 102,362,889 (GRCm39) missense probably benign
R6680:Or51a39 UTSW 7 102,363,522 (GRCm39) missense possibly damaging 0.70
R7195:Or51a39 UTSW 7 102,362,873 (GRCm39) missense possibly damaging 0.74
R7373:Or51a39 UTSW 7 102,363,306 (GRCm39) missense possibly damaging 0.53
R7391:Or51a39 UTSW 7 102,363,189 (GRCm39) missense probably benign 0.02
R7872:Or51a39 UTSW 7 102,363,389 (GRCm39) missense probably benign 0.01
R7948:Or51a39 UTSW 7 102,362,895 (GRCm39) missense probably benign 0.00
R8097:Or51a39 UTSW 7 102,363,197 (GRCm39) missense possibly damaging 0.53
R8969:Or51a39 UTSW 7 102,363,558 (GRCm39) missense probably benign 0.00
R9349:Or51a39 UTSW 7 102,362,875 (GRCm39) nonsense probably null
R9589:Or51a39 UTSW 7 102,363,372 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16