Incidental Mutation 'IGL02958:Olfr1039'
ID365208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1039
Ensembl Gene ENSMUSG00000075204
Gene Nameolfactory receptor 1039
SynonymsMOR185-5, MOR185-5, GA_x6K02T2Q125-47600809-47599850, MOR185-9P, Olfr1517, MOR185-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02958
Quality Score
Status
Chromosome2
Chromosomal Location86127995-86135928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86131007 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 219 (I219F)
Ref Sequence ENSEMBL: ENSMUSP00000149830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099910] [ENSMUST00000214364] [ENSMUST00000216566] [ENSMUST00000216665]
Predicted Effect probably benign
Transcript: ENSMUST00000099910
AA Change: I219F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097494
Gene: ENSMUSG00000075204
AA Change: I219F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1e-50 PFAM
Pfam:7tm_1 41 290 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214364
AA Change: I219F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216566
AA Change: I219F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216665
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,518,172 V755L probably benign Het
Abhd15 T C 11: 77,515,965 V256A possibly damaging Het
Agtr1b A T 3: 20,316,094 V116E possibly damaging Het
Ahi1 A T 10: 20,963,799 D203V probably damaging Het
Aplp2 G T 9: 31,164,676 probably benign Het
Arid4a T C 12: 71,097,563 S1249P probably benign Het
Asz1 T A 6: 18,073,814 K298M possibly damaging Het
C4bp A G 1: 130,636,795 I384T probably damaging Het
Cacna1e C A 1: 154,465,741 A1236S probably damaging Het
Cdh13 T C 8: 119,312,721 I634T possibly damaging Het
Cemip A T 7: 83,975,055 F524L probably damaging Het
Dnah7c G A 1: 46,657,111 R2051H probably damaging Het
Dnajc17 T C 2: 119,185,762 K77E probably benign Het
Efhc2 C T X: 17,161,246 probably benign Het
Ergic2 A T 6: 148,181,943 *50K probably null Het
Fam83g C T 11: 61,707,722 P812S probably damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gm7102 G T 19: 61,175,680 Q106K possibly damaging Het
Gm9047 G A 6: 29,471,626 G34R probably damaging Het
Itih3 T C 14: 30,913,182 T73A probably benign Het
Kcnj1 A G 9: 32,396,555 S72G probably damaging Het
Kcnn4 T C 7: 24,374,745 V78A probably benign Het
Lrp1b T A 2: 41,302,916 D1353V probably damaging Het
Lrrc2 T A 9: 110,962,673 probably null Het
Ndufs8 T C 19: 3,911,232 E45G probably benign Het
Nell1 G A 7: 50,220,337 probably null Het
Nxt1 A G 2: 148,675,772 probably benign Het
Olfr1390 A G 11: 49,341,300 Y256C probably benign Het
Pdzd8 A T 19: 59,300,372 C865* probably null Het
Pop1 G T 15: 34,530,363 C969F probably damaging Het
Rc3h2 A C 2: 37,414,700 I16S probably damaging Het
Shank1 T C 7: 44,354,473 V1863A possibly damaging Het
Slc15a4 A T 5: 127,604,665 L296Q possibly damaging Het
Ssr4 T C X: 73,787,250 probably benign Het
Supt20 T A 3: 54,713,723 probably benign Het
Ttc8 A T 12: 98,964,544 K282N probably benign Het
Usp40 A T 1: 87,978,485 V676E probably damaging Het
Vmn1r43 T C 6: 89,870,049 I152V probably benign Het
Vmn2r61 A T 7: 42,299,937 I594F probably benign Het
Vps53 A C 11: 76,117,711 I261S probably damaging Het
Wdr19 T A 5: 65,212,807 probably null Het
Zc3hav1 T A 6: 38,332,984 D301V probably damaging Het
Other mutations in Olfr1039
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Olfr1039 APN 2 86131668 utr 5 prime probably benign
IGL01981:Olfr1039 APN 2 86130830 missense probably benign 0.44
R0645:Olfr1039 UTSW 2 86131034 missense probably damaging 1.00
R1052:Olfr1039 UTSW 2 86131571 missense probably benign 0.13
R1613:Olfr1039 UTSW 2 86131063 missense probably damaging 1.00
R2132:Olfr1039 UTSW 2 86131261 missense possibly damaging 0.52
R3956:Olfr1039 UTSW 2 86131019 missense probably benign
R6372:Olfr1039 UTSW 2 86130854 missense possibly damaging 0.50
R7338:Olfr1039 UTSW 2 86131382 missense probably damaging 0.99
R7514:Olfr1039 UTSW 2 86131628 missense probably damaging 1.00
R7535:Olfr1039 UTSW 2 86131264 missense probably benign 0.00
R7537:Olfr1039 UTSW 2 86131264 missense probably benign 0.00
R8052:Olfr1039 UTSW 2 86131377 nonsense probably null
RF005:Olfr1039 UTSW 2 86131070 missense probably benign 0.01
Posted On2015-12-18