Incidental Mutation 'IGL00895:Or4f60'
ID 26813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f60
Ensembl Gene ENSMUSG00000074946
Gene Name olfactory receptor family 4 subfamily F member 60
Synonyms GA_x6K02T2Q125-73119859-73118924, MOR245-23, Olfr1313
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL00895
Quality Score
Status
Chromosome 2
Chromosomal Location 111901991-111902928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111902100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 276 (V276A)
Ref Sequence ENSEMBL: ENSMUSP00000148886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099599] [ENSMUST00000213577] [ENSMUST00000216071]
AlphaFold Q7TQW8
Predicted Effect probably damaging
Transcript: ENSMUST00000099599
AA Change: V276A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097194
Gene: ENSMUSG00000074946
AA Change: V276A

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 2.2e-41 PFAM
Pfam:7tm_1 41 286 2.8e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213577
AA Change: V276A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216071
AA Change: V276A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; 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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip6 T A 2: 53,092,936 (GRCm39) W154R probably damaging Het
Ccnc T A 4: 21,742,642 (GRCm39) Y156* probably null Het
Clca3a1 A C 3: 144,730,357 (GRCm39) W163G probably damaging Het
Cntnap5b C T 1: 100,311,310 (GRCm39) T972I probably damaging Het
Cpn2 C T 16: 30,079,338 (GRCm39) S121N probably benign Het
Dcc T C 18: 71,943,871 (GRCm39) E260G probably damaging Het
Dnah6 A T 6: 73,133,333 (GRCm39) N1091K possibly damaging Het
Dpp9 G T 17: 56,512,240 (GRCm39) F249L probably damaging Het
Dscaml1 A G 9: 45,662,551 (GRCm39) D1839G probably damaging Het
Esr1 C T 10: 4,997,890 (GRCm38) R481L probably benign Het
Frem2 G T 3: 53,493,016 (GRCm39) D1833E probably damaging Het
Ftdc2 A T 16: 58,458,059 (GRCm39) Y81N probably benign Het
Ica1 T C 6: 8,653,514 (GRCm39) D343G probably benign Het
Il27 T C 7: 126,188,555 (GRCm39) H206R probably benign Het
Med14 A G X: 12,547,039 (GRCm39) V723A probably damaging Het
Msh3 C A 13: 92,481,472 (GRCm39) G347C probably damaging Het
Nfasc T A 1: 132,501,536 (GRCm39) K1262* probably null Het
Nlrp9a A T 7: 26,258,103 (GRCm39) M485L probably benign Het
Or4c111 A G 2: 88,843,953 (GRCm39) F152L probably benign Het
Pcdhb5 T G 18: 37,454,036 (GRCm39) L139V probably benign Het
Rbfox1 A T 16: 7,187,698 (GRCm39) K43N probably benign Het
Scn5a G T 9: 119,342,170 (GRCm39) probably null Het
Senp7 G T 16: 55,902,740 (GRCm39) R21L probably damaging Het
Ssb G A 2: 69,696,606 (GRCm39) V47I probably benign Het
Ttll8 T A 15: 88,817,731 (GRCm39) S221C probably damaging Het
Other mutations in Or4f60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Or4f60 APN 2 111,902,266 (GRCm39) missense probably benign 0.00
IGL02054:Or4f60 APN 2 111,902,269 (GRCm39) missense probably benign 0.43
IGL03387:Or4f60 APN 2 111,902,007 (GRCm39) missense probably benign 0.00
R1891:Or4f60 UTSW 2 111,902,739 (GRCm39) missense probably damaging 1.00
R2509:Or4f60 UTSW 2 111,902,837 (GRCm39) missense probably benign
R2520:Or4f60 UTSW 2 111,902,013 (GRCm39) missense probably benign 0.00
R3084:Or4f60 UTSW 2 111,902,320 (GRCm39) nonsense probably null
R3085:Or4f60 UTSW 2 111,902,320 (GRCm39) nonsense probably null
R3086:Or4f60 UTSW 2 111,902,320 (GRCm39) nonsense probably null
R4357:Or4f60 UTSW 2 111,902,583 (GRCm39) missense probably damaging 1.00
R4700:Or4f60 UTSW 2 111,902,097 (GRCm39) missense possibly damaging 0.54
R5366:Or4f60 UTSW 2 111,902,823 (GRCm39) missense possibly damaging 0.91
R5372:Or4f60 UTSW 2 111,902,454 (GRCm39) missense probably benign 0.03
R5643:Or4f60 UTSW 2 111,902,013 (GRCm39) missense probably benign 0.00
R5644:Or4f60 UTSW 2 111,902,013 (GRCm39) missense probably benign 0.00
R5681:Or4f60 UTSW 2 111,902,722 (GRCm39) missense probably benign 0.38
R6004:Or4f60 UTSW 2 111,902,371 (GRCm39) missense probably damaging 1.00
R6609:Or4f60 UTSW 2 111,902,509 (GRCm39) missense probably benign 0.01
R7056:Or4f60 UTSW 2 111,902,662 (GRCm39) missense probably benign
R7066:Or4f60 UTSW 2 111,902,541 (GRCm39) missense probably damaging 1.00
R7417:Or4f60 UTSW 2 111,902,445 (GRCm39) missense probably benign 0.01
R8942:Or4f60 UTSW 2 111,902,802 (GRCm39) missense probably damaging 1.00
R9261:Or4f60 UTSW 2 111,902,718 (GRCm39) missense probably damaging 1.00
R9423:Or4f60 UTSW 2 111,902,808 (GRCm39) missense possibly damaging 0.91
Posted On 2013-04-17