Incidental Mutation 'IGL02748:Or5an1c'
ID 306147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5an1c
Ensembl Gene ENSMUSG00000067519
Gene Name olfactory receptor family 5 subfamily AN member 1C
Synonyms MOR214-1, Olfr262, GA_x6K02T2N4A9-18144-19082, MOR214-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02748
Quality Score
Status
Chromosome 19
Chromosomal Location 12218085-12219023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12218204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 274 (F274L)
Ref Sequence ENSEMBL: ENSMUSP00000085120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087818]
AlphaFold Q8VFV8
Predicted Effect probably benign
Transcript: ENSMUST00000087818
AA Change: F274L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000085120
Gene: ENSMUSG00000067519
AA Change: F274L

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 2.3e-55 PFAM
Pfam:7tm_1 42 291 1.2e-20 PFAM
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baiap2l1 T A 5: 144,203,415 (GRCm39) probably benign Het
Btbd9 T C 17: 30,553,271 (GRCm39) N397S possibly damaging Het
Crlf3 A G 11: 79,950,145 (GRCm39) S162P probably damaging Het
Dctn2 C T 10: 127,113,142 (GRCm39) R231C probably damaging Het
Dhcr24 T C 4: 106,421,589 (GRCm39) probably benign Het
Efcab12 T A 6: 115,797,063 (GRCm39) T364S probably damaging Het
Eps8l3 A G 3: 107,786,684 (GRCm39) probably benign Het
Ezh2 A G 6: 47,535,173 (GRCm39) L92P probably damaging Het
Fbxw15 A G 9: 109,387,278 (GRCm39) I239T possibly damaging Het
Fndc4 T C 5: 31,452,130 (GRCm39) T96A possibly damaging Het
Gcn1 G A 5: 115,748,859 (GRCm39) probably null Het
Ifna13 A G 4: 88,562,097 (GRCm39) S176P probably damaging Het
Kcnh1 A G 1: 191,903,728 (GRCm39) H56R probably damaging Het
Lrp1b T C 2: 40,592,761 (GRCm39) D3786G probably damaging Het
Mcm3ap T A 10: 76,337,082 (GRCm39) V1339E probably damaging Het
Mthfd1l T C 10: 3,968,587 (GRCm39) V414A possibly damaging Het
Mthfd1l T G 10: 3,930,268 (GRCm39) probably null Het
Or10ag56 T A 2: 87,140,009 (GRCm39) L312Q probably damaging Het
Or6b3 A G 1: 92,439,189 (GRCm39) L187P probably damaging Het
Pcdhb15 T C 18: 37,608,273 (GRCm39) S502P probably damaging Het
Pde5a T A 3: 122,554,541 (GRCm39) N242K probably damaging Het
Pik3cb A T 9: 98,945,021 (GRCm39) probably benign Het
Rab3gap1 A G 1: 127,865,198 (GRCm39) M729V probably damaging Het
Rai14 A G 15: 10,589,421 (GRCm39) V259A probably benign Het
Rassf4 T C 6: 116,616,418 (GRCm39) I298V possibly damaging Het
Senp7 C T 16: 56,006,457 (GRCm39) T927M probably damaging Het
Snx27 A T 3: 94,410,872 (GRCm39) I426N probably benign Het
Syce1l A T 8: 114,382,097 (GRCm39) probably benign Het
Tmem18 T C 12: 30,638,744 (GRCm39) *141Q probably null Het
Tnrc6c T C 11: 117,622,996 (GRCm39) S1006P probably benign Het
Utp20 T C 10: 88,653,157 (GRCm39) T308A probably benign Het
Vmn2r24 T A 6: 123,793,057 (GRCm39) C795S possibly damaging Het
Zdhhc20 A G 14: 58,096,010 (GRCm39) S143P probably benign Het
Other mutations in Or5an1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Or5an1c APN 19 12,218,891 (GRCm39) missense probably damaging 0.99
IGL02170:Or5an1c APN 19 12,218,120 (GRCm39) missense probably benign
IGL02896:Or5an1c APN 19 12,218,353 (GRCm39) nonsense probably null
R0365:Or5an1c UTSW 19 12,218,440 (GRCm39) missense probably benign 0.13
R0374:Or5an1c UTSW 19 12,218,505 (GRCm39) missense probably damaging 1.00
R1226:Or5an1c UTSW 19 12,218,950 (GRCm39) missense probably benign
R1319:Or5an1c UTSW 19 12,218,866 (GRCm39) missense probably damaging 1.00
R1426:Or5an1c UTSW 19 12,218,546 (GRCm39) missense possibly damaging 0.81
R1453:Or5an1c UTSW 19 12,218,956 (GRCm39) missense probably benign
R1675:Or5an1c UTSW 19 12,218,195 (GRCm39) missense probably benign 0.37
R1773:Or5an1c UTSW 19 12,219,023 (GRCm39) start codon destroyed probably null 0.03
R1778:Or5an1c UTSW 19 12,218,819 (GRCm39) missense probably benign
R1820:Or5an1c UTSW 19 12,218,612 (GRCm39) missense probably damaging 1.00
R3161:Or5an1c UTSW 19 12,218,860 (GRCm39) missense probably benign 0.06
R3412:Or5an1c UTSW 19 12,218,954 (GRCm39) missense probably benign 0.00
R4387:Or5an1c UTSW 19 12,218,503 (GRCm39) missense probably damaging 0.98
R4389:Or5an1c UTSW 19 12,218,503 (GRCm39) missense probably damaging 0.98
R4782:Or5an1c UTSW 19 12,218,936 (GRCm39) missense probably benign 0.01
R4885:Or5an1c UTSW 19 12,218,082 (GRCm39) splice site probably null
R4915:Or5an1c UTSW 19 12,218,737 (GRCm39) missense probably benign 0.31
R5254:Or5an1c UTSW 19 12,218,612 (GRCm39) missense probably damaging 1.00
R5726:Or5an1c UTSW 19 12,218,644 (GRCm39) missense probably damaging 0.99
R6579:Or5an1c UTSW 19 12,218,726 (GRCm39) missense probably benign
R7062:Or5an1c UTSW 19 12,218,089 (GRCm39) missense probably benign
R7424:Or5an1c UTSW 19 12,218,318 (GRCm39) missense possibly damaging 0.65
R9491:Or5an1c UTSW 19 12,218,606 (GRCm39) missense probably benign 0.01
R9736:Or5an1c UTSW 19 12,218,920 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16