Incidental Mutation 'IGL01612:Olfr685'
ID92163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr685
Ensembl Gene ENSMUSG00000047794
Gene Nameolfactory receptor 685
SynonymsGA_x6K02T2PBJ9-7810071-7809121, MOR37-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL01612
Quality Score
Status
Chromosome7
Chromosomal Location105178416-105186012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105180722 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
Ref Sequence ENSEMBL: ENSMUSP00000148994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051355] [ENSMUST00000209409] [ENSMUST00000214712] [ENSMUST00000217432]
Predicted Effect probably damaging
Transcript: ENSMUST00000051355
AA Change: V197A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: V197A

DomainStartEndE-ValueType
Pfam:7tm_4 34 313 3e-107 PFAM
Pfam:7TM_GPCR_Srsx 38 217 2.9e-8 PFAM
Pfam:7tm_1 44 295 7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209409
AA Change: V212A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000214712
AA Change: V212A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000217432
AA Change: V212A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,031 T1326A possibly damaging Het
Afg3l1 C T 8: 123,494,853 R484C probably benign Het
Atg2a C A 19: 6,252,484 Q946K probably benign Het
Cdh20 T C 1: 104,994,170 Y731H probably benign Het
Cdk15 A G 1: 59,289,773 D282G possibly damaging Het
Ctnnd2 T C 15: 31,005,018 S1073P probably damaging Het
Dnah2 T C 11: 69,465,063 probably benign Het
Evi2a T A 11: 79,527,152 R211W probably damaging Het
Fmo1 T A 1: 162,833,599 I372F probably benign Het
Glyctk T C 9: 106,155,272 D514G probably damaging Het
Gmnc G A 16: 26,960,319 Q313* probably null Het
Grik1 T C 16: 87,946,735 T520A probably damaging Het
Gtsf2 A T 15: 103,444,913 C9S probably damaging Het
Ift80 T G 3: 68,963,663 N200T possibly damaging Het
Ints1 A G 5: 139,756,292 S1771P probably benign Het
Lrba A G 3: 86,776,177 T2769A possibly damaging Het
Lrfn2 G T 17: 49,070,397 V169L possibly damaging Het
Mei1 G A 15: 82,089,552 R80H probably damaging Het
Nbeal2 A T 9: 110,644,678 V31E probably damaging Het
Ncapd2 G T 6: 125,177,872 P546T probably benign Het
Pan3 T C 5: 147,453,242 probably benign Het
Rab3b T A 4: 108,924,026 probably null Het
Rabl2 T C 15: 89,583,412 K119E probably benign Het
Reln A G 5: 21,896,930 V3334A probably damaging Het
Rfx1 A G 8: 84,092,972 probably null Het
Rhod T C 19: 4,426,219 Y168C probably damaging Het
Sag T C 1: 87,805,349 I13T probably damaging Het
Sat2 T C 11: 69,622,963 probably null Het
Scn5a A T 9: 119,486,025 D1872E possibly damaging Het
Sh2b2 T G 5: 136,231,802 I187L probably benign Het
Slit3 G A 11: 35,700,384 G1341D possibly damaging Het
Tmed11 A T 5: 108,779,884 S95T possibly damaging Het
Tmem186 A G 16: 8,635,869 V176A possibly damaging Het
Trim12c A T 7: 104,348,215 S45T possibly damaging Het
Ube4b C A 4: 149,383,818 R167L probably damaging Het
Zfp335 A T 2: 164,910,620 probably null Het
Other mutations in Olfr685
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Olfr685 APN 7 105180488 missense probably benign 0.00
IGL02598:Olfr685 APN 7 105180956 missense probably damaging 1.00
R0841:Olfr685 UTSW 7 105180854 missense probably damaging 0.96
R1164:Olfr685 UTSW 7 105180833 missense probably benign 0.02
R1711:Olfr685 UTSW 7 105180760 missense probably damaging 0.99
R1891:Olfr685 UTSW 7 105180547 nonsense probably null
R1901:Olfr685 UTSW 7 105180872 missense possibly damaging 0.88
R1990:Olfr685 UTSW 7 105181014 missense probably damaging 1.00
R3766:Olfr685 UTSW 7 105180881 missense probably damaging 0.98
R4750:Olfr685 UTSW 7 105180926 missense probably damaging 1.00
R5056:Olfr685 UTSW 7 105180572 missense probably damaging 1.00
R5061:Olfr685 UTSW 7 105180657 missense possibly damaging 0.56
R6227:Olfr685 UTSW 7 105180710 missense probably damaging 1.00
R7619:Olfr685 UTSW 7 105180749 missense probably damaging 1.00
R8075:Olfr685 UTSW 7 105181136 missense probably damaging 0.98
R8250:Olfr685 UTSW 7 105181311 missense
Posted On2013-12-09