Incidental Mutation 'IGL02817:Or2a51'
ID 360818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2a51
Ensembl Gene ENSMUSG00000048693
Gene Name olfactory receptor family 2 subfamily A member 51
Synonyms MOR261-5, GA_x6K02T2P3E9-4356476-4355535, Olfr435
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL02817
Quality Score
Status
Chromosome 6
Chromosomal Location 43178580-43179521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43178993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 138 (R138S)
Ref Sequence ENSEMBL: ENSMUSP00000150935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058118] [ENSMUST00000215565]
AlphaFold Q8VFS3
Predicted Effect probably benign
Transcript: ENSMUST00000058118
AA Change: R138S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000058912
Gene: ENSMUSG00000048693
AA Change: R138S

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 3e-61 PFAM
Pfam:7tm_1 40 289 4.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215565
AA Change: R138S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ash1l C A 3: 88,892,108 (GRCm39) P1329H probably damaging Het
Bpifb3 T C 2: 153,761,566 (GRCm39) V5A unknown Het
Cep350 A G 1: 155,804,588 (GRCm39) S832P probably damaging Het
Chd1 A T 17: 15,969,762 (GRCm39) H947L possibly damaging Het
Clec4b1 A T 6: 123,045,444 (GRCm39) H88L possibly damaging Het
Col4a1 A G 8: 11,270,259 (GRCm39) L859P probably damaging Het
Cyp2f2 T A 7: 26,828,740 (GRCm39) N203K probably damaging Het
Dgka G A 10: 128,566,097 (GRCm39) T351I probably benign Het
Dmc1 G A 15: 79,472,964 (GRCm39) T161I probably damaging Het
Dnah8 A G 17: 30,887,269 (GRCm39) N688D probably benign Het
Dpy19l3 A G 7: 35,392,233 (GRCm39) L653P probably damaging Het
Drc3 A G 11: 60,275,062 (GRCm39) E341G probably benign Het
Fcrl5 T G 3: 87,343,220 (GRCm39) V10G probably benign Het
Fgfr4 T C 13: 55,304,481 (GRCm39) probably null Het
Gli2 T C 1: 118,764,101 (GRCm39) H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 (GRCm38) S30P probably benign Het
Grik4 T C 9: 42,534,235 (GRCm39) N349S probably benign Het
Ifnar2 G T 16: 91,184,880 (GRCm39) K90N probably benign Het
Kcp A T 6: 29,496,968 (GRCm39) I547N probably damaging Het
L3mbtl4 A T 17: 68,937,249 (GRCm39) E423D probably benign Het
Mapkap1 T C 2: 34,453,130 (GRCm39) L341P probably damaging Het
Mdm1 A G 10: 118,000,251 (GRCm39) Q618R possibly damaging Het
Medag A T 5: 149,350,503 (GRCm39) R51* probably null Het
Myo1f G A 17: 33,823,532 (GRCm39) R1020K probably benign Het
Myrf T C 19: 10,202,816 (GRCm39) N153D probably benign Het
Naf1 T C 8: 67,336,177 (GRCm39) I368T probably damaging Het
Nalf1 A T 8: 9,257,994 (GRCm39) C385S probably damaging Het
Ncapd2 A G 6: 125,147,877 (GRCm39) probably null Het
Nsfl1c T A 2: 151,342,651 (GRCm39) S74T probably damaging Het
Or6c68 A G 10: 129,157,764 (GRCm39) T91A probably benign Het
Or8h7 T C 2: 86,720,937 (GRCm39) N194S probably benign Het
Ptgfrn T A 3: 100,968,068 (GRCm39) E508D probably benign Het
Ryr3 C A 2: 112,674,968 (GRCm39) probably null Het
Snx27 A G 3: 94,410,770 (GRCm39) L460P probably damaging Het
Sp4 G T 12: 118,263,287 (GRCm39) T253K probably damaging Het
Trio T C 15: 27,902,967 (GRCm39) I165V probably benign Het
Txnl4b A G 8: 110,299,478 (GRCm39) Y146C probably damaging Het
Vmn1r42 A G 6: 89,822,518 (GRCm39) M17T probably damaging Het
Zer1 T C 2: 29,993,406 (GRCm39) I567V probably damaging Het
Other mutations in Or2a51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03385:Or2a51 APN 6 43,178,914 (GRCm39) missense probably benign 0.20
R0455:Or2a51 UTSW 6 43,179,006 (GRCm39) missense probably benign
R1977:Or2a51 UTSW 6 43,178,914 (GRCm39) missense possibly damaging 0.93
R2152:Or2a51 UTSW 6 43,179,003 (GRCm39) missense probably benign
R3821:Or2a51 UTSW 6 43,178,604 (GRCm39) missense probably benign 0.26
R7041:Or2a51 UTSW 6 43,178,837 (GRCm39) missense probably benign 0.05
R9212:Or2a51 UTSW 6 43,178,756 (GRCm39) nonsense probably null
R9533:Or2a51 UTSW 6 43,178,991 (GRCm39) missense probably benign 0.35
R9743:Or2a51 UTSW 6 43,179,229 (GRCm39) missense probably benign 0.44
Posted On 2015-12-18