Incidental Mutation 'IGL02727:Olfr713'
ID305244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr713
Ensembl Gene ENSMUSG00000073898
Gene Nameolfactory receptor 713
SynonymsGA_x6K02T2PBJ9-9415724-9416677, MOR263-1, P3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02727
Quality Score
Status
Chromosome7
Chromosomal Location107031174-107040994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 107036695 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 180 (C180F)
Ref Sequence ENSEMBL: ENSMUSP00000150042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098138] [ENSMUST00000098139] [ENSMUST00000213623]
Predicted Effect probably damaging
Transcript: ENSMUST00000098138
AA Change: C180F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095741
Gene: ENSMUSG00000073897
AA Change: C180F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 2.6e-58 PFAM
Pfam:7tm_1 42 291 2.2e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098139
AA Change: C187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095743
Gene: ENSMUSG00000073898
AA Change: C187F

DomainStartEndE-ValueType
Pfam:7tm_4 39 316 4.4e-57 PFAM
Pfam:7tm_1 49 298 2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213623
AA Change: C180F

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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,187,565 T13A probably benign Het
Aldh1l2 T A 10: 83,506,605 K447I probably damaging Het
Ankrd17 A G 5: 90,244,292 S1840P possibly damaging Het
Ash1l A G 3: 89,023,037 I1940M probably benign Het
Bfar T G 16: 13,688,927 probably null Het
Bicra G T 7: 15,979,465 H937Q possibly damaging Het
Brip1 A T 11: 86,152,736 M334K probably benign Het
Camsap2 T G 1: 136,304,312 M182L probably benign Het
Ccdc144b T A 3: 36,032,916 R176S possibly damaging Het
Chd6 A T 2: 160,969,463 C1407S probably damaging Het
Cmya5 A G 13: 93,098,245 S112P possibly damaging Het
Csmd1 A T 8: 16,231,327 V728E probably damaging Het
Cyp2j6 T A 4: 96,545,764 Q103L probably benign Het
Ddias A T 7: 92,866,622 I21K probably damaging Het
Derl2 A C 11: 71,013,210 probably benign Het
Dgka A T 10: 128,722,448 probably benign Het
Dusp11 T C 6: 85,961,492 D15G probably damaging Het
Enpp2 T C 15: 54,910,181 D110G probably damaging Het
Fkbp11 A T 15: 98,724,590 V134E probably damaging Het
Gm3248 T C 14: 5,945,036 T49A probably damaging Het
Lrmp T C 6: 145,174,618 S520P possibly damaging Het
Luzp2 T C 7: 55,172,191 probably benign Het
Manea T A 4: 26,328,126 E305V probably damaging Het
Manea C A 4: 26,328,127 E305* probably null Het
Megf6 A G 4: 154,253,149 probably null Het
Mrpl3 G T 9: 105,054,527 D59Y probably damaging Het
Myh9 T C 15: 77,791,742 Y248C probably benign Het
Nbeal2 G A 9: 110,639,285 probably benign Het
Olfr1386 G T 11: 49,471,066 G305V probably benign Het
Olfr161 T A 16: 3,593,326 I310K probably benign Het
Olfr889 A G 9: 38,116,512 T239A probably damaging Het
Pax8 C A 2: 24,441,630 C147F probably damaging Het
Phf12 T C 11: 78,023,667 V96A possibly damaging Het
Psg18 A T 7: 18,345,950 I442K probably damaging Het
Pygl T A 12: 70,207,668 probably null Het
Rassf2 C A 2: 132,004,387 R150L probably benign Het
Rdh7 A T 10: 127,887,618 W123R probably damaging Het
Saal1 T C 7: 46,689,799 probably null Het
Sall1 T C 8: 89,030,755 D907G probably damaging Het
Spag1 T A 15: 36,234,818 F876I probably damaging Het
Syncrip G A 9: 88,479,879 A61V probably damaging Het
Trbv3 A T 6: 41,048,642 K55N probably benign Het
Vmn1r178 A G 7: 23,894,446 probably null Het
Vmn2r84 T C 10: 130,394,126 D39G possibly damaging Het
Other mutations in Olfr713
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Olfr713 APN 7 107036847 missense probably damaging 0.99
IGL01630:Olfr713 APN 7 107037111 utr 3 prime probably benign
IGL02539:Olfr713 APN 7 107036434 missense probably damaging 1.00
IGL03336:Olfr713 APN 7 107036335 missense probably damaging 1.00
R0501:Olfr713 UTSW 7 107036232 missense probably benign
R0684:Olfr713 UTSW 7 107036682 missense probably damaging 1.00
R0909:Olfr713 UTSW 7 107036194 missense probably benign 0.19
R1481:Olfr713 UTSW 7 107036149 missense probably benign 0.05
R1958:Olfr713 UTSW 7 107036271 missense possibly damaging 0.77
R1965:Olfr713 UTSW 7 107036358 missense probably damaging 1.00
R2119:Olfr713 UTSW 7 107036731 missense probably damaging 1.00
R2149:Olfr713 UTSW 7 107036338 missense possibly damaging 0.68
R3012:Olfr713 UTSW 7 107036362 missense possibly damaging 0.79
R3428:Olfr713 UTSW 7 107036716 missense probably benign
R4425:Olfr713 UTSW 7 107036491 missense probably damaging 1.00
R4795:Olfr713 UTSW 7 107036914 missense probably benign 0.00
R4796:Olfr713 UTSW 7 107036914 missense probably benign 0.00
R4908:Olfr713 UTSW 7 107036157 start codon destroyed probably benign 0.02
R4945:Olfr713 UTSW 7 107036319 missense probably benign 0.00
R5122:Olfr713 UTSW 7 107036848 nonsense probably null
R5721:Olfr713 UTSW 7 107036358 missense probably damaging 1.00
R5979:Olfr713 UTSW 7 107036336 missense probably damaging 1.00
R6739:Olfr713 UTSW 7 107036811 missense probably damaging 1.00
R6981:Olfr713 UTSW 7 107036749 missense possibly damaging 0.77
R7197:Olfr713 UTSW 7 107036157 missense probably benign 0.03
R7228:Olfr713 UTSW 7 107037100 missense probably benign
R7444:Olfr713 UTSW 7 107036347 missense probably damaging 1.00
R8830:Olfr713 UTSW 7 107036682 missense probably benign 0.28
Posted On2015-04-16