Incidental Mutation 'IGL02539:Olfr713'
ID297638
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: 0.060) question?
Stock #IGL02539
Quality Score
Status
Chromosome7
Chromosomal Location107031174-107040994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107036434 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 93 (I93N)
Ref Sequence ENSEMBL: ENSMUSP00000150042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098138] [ENSMUST00000098139] [ENSMUST00000213623]
Predicted Effect probably damaging
Transcript: ENSMUST00000098138
AA Change: I93N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095741
Gene: ENSMUSG00000073897
AA Change: I93N

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: I100N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095743
Gene: ENSMUSG00000073898
AA Change: I100N

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: I93N

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,786,213 Y479* probably null Het
Btnl6 T C 17: 34,508,314 N414S probably benign Het
Ccdc180 A G 4: 45,921,005 N984D probably damaging Het
Cfc1 A T 1: 34,537,122 probably benign Het
Chrm1 G A 19: 8,678,311 V127M probably damaging Het
Dicer1 A G 12: 104,697,035 L1429P probably damaging Het
Erbb3 A G 10: 128,584,305 probably null Het
Evi5 T C 5: 107,815,665 E348G probably benign Het
Fat2 G A 11: 55,281,793 T2698I probably damaging Het
Gas2 A G 7: 51,897,290 D63G possibly damaging Het
Gm28042 A G 2: 120,035,221 D313G probably damaging Het
Hivep2 T A 10: 14,131,878 S1407T probably damaging Het
Ibsp T A 5: 104,302,283 M19K probably damaging Het
Itih3 C T 14: 30,912,664 D129N probably benign Het
Krtap4-8 A T 11: 99,780,370 probably benign Het
Mertk A G 2: 128,801,290 T870A probably damaging Het
Mtmr11 C A 3: 96,164,991 probably benign Het
Nbas C A 12: 13,272,703 probably benign Het
Nlrp4b A G 7: 10,714,428 D186G probably damaging Het
Olfm3 A G 3: 115,101,930 I154V possibly damaging Het
Pdk2 T C 11: 95,032,495 K101R probably benign Het
Pds5a C T 5: 65,666,119 D110N probably damaging Het
Pex5 A T 6: 124,403,224 D288E probably benign Het
Pitrm1 A G 13: 6,568,756 D655G probably benign Het
Plcz1 T C 6: 139,992,964 N554S probably benign Het
Plin4 T C 17: 56,106,680 Q315R probably damaging Het
Plpp5 A G 8: 25,724,188 H244R probably benign Het
Ppp1r3a C T 6: 14,718,459 V819I probably benign Het
Rap1b T A 10: 117,822,804 R41S possibly damaging Het
Rc3h2 T A 2: 37,389,715 S501C probably benign Het
Sel1l2 G T 2: 140,230,858 A619D probably damaging Het
Ska3 T C 14: 57,820,511 D128G possibly damaging Het
Specc1l A T 10: 75,267,508 I889L probably benign Het
Ssxb5 T A X: 8,808,848 N130K probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tet1 T C 10: 62,813,019 Q267R possibly damaging Het
Tlr8 T A X: 167,244,156 H566L possibly damaging Het
Tmem132d T A 5: 127,783,979 Q1026L probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trp53bp2 C A 1: 182,448,691 P746T probably damaging Het
Uso1 A T 5: 92,187,773 I547F probably damaging Het
Zfp687 A C 3: 95,011,062 N466K probably 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
IGL02727:Olfr713 APN 7 107036695 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
Posted On2015-04-16