Incidental Mutation 'IGL01781:Olfr716'
ID153926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr716
Ensembl Gene ENSMUSG00000073896
Gene Nameolfactory receptor 716
SynonymsGA_x6K02T2PBJ9-9497411-9498355, MOR260-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL01781
Quality Score
Status
Chromosome7
Chromosomal Location107138327-107150581 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107147696 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 127 (C127S)
Ref Sequence ENSEMBL: ENSMUSP00000150175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098137] [ENSMUST00000209942] [ENSMUST00000210474] [ENSMUST00000213367] [ENSMUST00000214819] [ENSMUST00000215284] [ENSMUST00000216871]
Predicted Effect probably damaging
Transcript: ENSMUST00000098137
AA Change: C127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: C127S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.4e-57 PFAM
Pfam:7tm_1 41 290 3.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209942
Predicted Effect probably damaging
Transcript: ENSMUST00000210474
AA Change: C127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213367
AA Change: C127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214819
AA Change: C127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215284
AA Change: C127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216871
AA Change: C127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Abca13 T A 11: 9,399,280 I3618N probably damaging Het
Acss1 A G 2: 150,637,872 L305P probably damaging Het
Alox12e A T 11: 70,321,456 L132Q probably damaging Het
Atp6v0a4 T C 6: 38,074,160 N428D possibly damaging Het
Ccdc80 C T 16: 45,126,130 H811Y probably damaging Het
Cgn T C 3: 94,773,205 M596V probably benign Het
Cpn1 T A 19: 43,966,218 E323V possibly damaging Het
Cul9 A G 17: 46,539,304 S447P probably benign Het
Cyp2f2 A T 7: 27,130,421 Y182F probably benign Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Eri3 T C 4: 117,564,677 F51L probably benign Het
Fgd5 A G 6: 91,988,717 S486G possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm13101 C A 4: 143,965,729 C234F probably benign Het
Ifna4 T C 4: 88,842,152 S98P probably damaging Het
Impg2 A G 16: 56,252,225 K340R probably benign Het
Man2b2 T C 5: 36,813,745 N759S possibly damaging Het
Mfsd1 A G 3: 67,587,911 probably benign Het
Pdcd6ip G T 9: 113,691,498 N139K probably damaging Het
Peak1 A T 9: 56,260,065 I193N possibly damaging Het
Psg27 T A 7: 18,565,064 T111S probably damaging Het
Ptprs G A 17: 56,435,676 L489F probably damaging Het
Rpgrip1l A G 8: 91,270,218 V76A probably benign Het
Scd1 A T 19: 44,400,348 M221K possibly damaging Het
Slc38a7 A G 8: 95,843,758 probably null Het
Spon2 T C 5: 33,215,560 D266G probably benign Het
Spry4 C T 18: 38,590,425 G95D probably damaging Het
Supt20 A G 3: 54,695,205 M1V probably null Het
Tmem55a T C 4: 14,893,566 L143S probably damaging Het
Trappc11 A C 8: 47,514,128 F404V possibly damaging Het
Vmn1r178 C A 7: 23,894,009 Q161K probably damaging Het
Vmn2r25 T C 6: 123,839,365 E419G possibly damaging Het
Vstm5 A G 9: 15,257,672 H146R probably damaging Het
Other mutations in Olfr716
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02792:Olfr716 APN 7 107148218 missense probably benign 0.00
IGL03300:Olfr716 APN 7 107147409 missense probably damaging 1.00
R0071:Olfr716 UTSW 7 107147712 missense probably damaging 1.00
R0071:Olfr716 UTSW 7 107147712 missense probably damaging 1.00
R0391:Olfr716 UTSW 7 107148187 nonsense probably null
R0962:Olfr716 UTSW 7 107148087 missense possibly damaging 0.94
R1440:Olfr716 UTSW 7 107148198 missense probably damaging 1.00
R5561:Olfr716 UTSW 7 107148090 missense probably benign 0.05
R5700:Olfr716 UTSW 7 107147541 missense probably benign
R5997:Olfr716 UTSW 7 107147328 missense possibly damaging 0.79
R6262:Olfr716 UTSW 7 107147711 missense probably damaging 1.00
R6922:Olfr716 UTSW 7 107148083 missense probably damaging 0.98
R7076:Olfr716 UTSW 7 107148029 missense probably damaging 1.00
R8025:Olfr716 UTSW 7 107147723 missense possibly damaging 0.87
Z1088:Olfr716 UTSW 7 107148212 missense probably benign
Z1176:Olfr716 UTSW 7 107148155 missense probably benign 0.12
Posted On2014-02-04