Incidental Mutation 'IGL01554:Or6c74'
ID 90652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c74
Ensembl Gene ENSMUSG00000044897
Gene Name olfactory receptor family 6 subfamily C member 74
Synonyms GA_x6K02T2PULF-11704843-11705775, Olfr821, MOR109-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # IGL01554
Quality Score
Status
Chromosome 10
Chromosomal Location 129869497-129870429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129870052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 186 (S186P)
Ref Sequence ENSEMBL: ENSMUSP00000149027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054364] [ENSMUST00000205181] [ENSMUST00000214177]
AlphaFold Q8VG45
Predicted Effect probably damaging
Transcript: ENSMUST00000054364
AA Change: S186P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056626
Gene: ENSMUSG00000044897
AA Change: S186P

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 5.2e-50 PFAM
Pfam:7tm_1 39 288 3.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205181
AA Change: S186P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144938
Gene: ENSMUSG00000044897
AA Change: S186P

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 5.2e-50 PFAM
Pfam:7tm_1 39 288 3.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214177
AA Change: S186P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,932,992 (GRCm39) I1211V probably benign Het
Adgre4 A G 17: 56,124,090 (GRCm39) S497G probably damaging Het
Ankrd55 T C 13: 112,459,601 (GRCm39) M65T possibly damaging Het
Entrep3 A G 3: 89,092,888 (GRCm39) T257A probably damaging Het
Ermard A G 17: 15,271,855 (GRCm39) D338G possibly damaging Het
Espl1 T C 15: 102,221,660 (GRCm39) L983P probably damaging Het
Ext2 A C 2: 93,642,294 (GRCm39) L192V probably damaging Het
Fam83b T A 9: 76,409,403 (GRCm39) Y241F probably benign Het
Fbxl12 G A 9: 20,550,215 (GRCm39) P170S possibly damaging Het
Fsip2 C A 2: 82,807,622 (GRCm39) P1314T possibly damaging Het
Greb1l A G 18: 10,522,144 (GRCm39) R747G probably benign Het
Hspa1a G T 17: 35,189,500 (GRCm39) P468T probably damaging Het
Lamb1 T C 12: 31,356,976 (GRCm39) C1028R probably damaging Het
Lcn8 C T 2: 25,544,198 (GRCm39) A40V possibly damaging Het
Lmbrd2 A G 15: 9,165,906 (GRCm39) Y260C possibly damaging Het
Mex3d G T 10: 80,217,869 (GRCm39) N449K possibly damaging Het
Mgat4f A G 1: 134,317,696 (GRCm39) N156S probably damaging Het
Ncam2 A G 16: 81,309,823 (GRCm39) K438E possibly damaging Het
Nudt7 A G 8: 114,874,625 (GRCm39) probably benign Het
Nup214 C A 2: 31,941,084 (GRCm39) S39* probably null Het
Opn5 A G 17: 42,918,089 (GRCm39) S58P probably damaging Het
Or7e173 T C 9: 19,938,704 (GRCm39) I177V possibly damaging Het
Pcsk1 T A 13: 75,280,426 (GRCm39) N750K probably benign Het
Pdzrn3 T C 6: 101,127,502 (GRCm39) N1055D probably damaging Het
Phf2 T A 13: 48,959,355 (GRCm39) K884* probably null Het
Prkdc A G 16: 15,470,166 (GRCm39) N191S probably benign Het
Prpf8 A T 11: 75,386,472 (GRCm39) Q987L probably damaging Het
Prrc2c G A 1: 162,538,355 (GRCm39) P425L probably damaging Het
Rab36 T C 10: 74,886,520 (GRCm39) I166T possibly damaging Het
Rab3gap1 G T 1: 127,855,745 (GRCm39) L461F possibly damaging Het
Rnls A T 19: 33,368,499 (GRCm39) Y27N possibly damaging Het
Sncaip A T 18: 53,002,006 (GRCm39) I176F possibly damaging Het
Tagap G A 17: 8,151,780 (GRCm39) G322S probably benign Het
Tas2r130 C T 6: 131,607,046 (GRCm39) A250T probably benign Het
Tgs1 A G 4: 3,593,632 (GRCm39) S507G probably null Het
Ttn T C 2: 76,706,056 (GRCm39) probably benign Het
Zp2 T C 7: 119,737,548 (GRCm39) K246E possibly damaging Het
Other mutations in Or6c74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01093:Or6c74 APN 10 129,869,761 (GRCm39) missense probably benign 0.01
R1960:Or6c74 UTSW 10 129,870,187 (GRCm39) nonsense probably null
R1968:Or6c74 UTSW 10 129,869,602 (GRCm39) missense probably damaging 1.00
R6889:Or6c74 UTSW 10 129,870,401 (GRCm39) missense probably benign
R6894:Or6c74 UTSW 10 129,870,178 (GRCm39) missense probably damaging 1.00
R6960:Or6c74 UTSW 10 129,869,972 (GRCm39) missense probably benign 0.34
R7140:Or6c74 UTSW 10 129,870,083 (GRCm39) missense possibly damaging 0.89
R7828:Or6c74 UTSW 10 129,869,756 (GRCm39) missense probably damaging 0.99
R9722:Or6c74 UTSW 10 129,869,500 (GRCm39) missense probably benign 0.01
Z1088:Or6c74 UTSW 10 129,869,657 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09