Incidental Mutation 'IGL03130:Olfr1314'
ID410285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1314
Ensembl Gene ENSMUSG00000074945
Gene Nameolfactory receptor 1314
SynonymsGA_x6K02T2Q125-73139026-73138088, MOR245-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL03130
Quality Score
Status
Chromosome2
Chromosomal Location112089786-112096781 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112091821 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 293 (D293E)
Ref Sequence ENSEMBL: ENSMUSP00000146418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099598] [ENSMUST00000207976]
Predicted Effect probably benign
Transcript: ENSMUST00000099598
AA Change: D293E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097193
Gene: ENSMUSG00000074945
AA Change: D293E

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 9.2e-42 PFAM
Pfam:7tm_1 41 287 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207976
AA Change: D293E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,474,589 E941G possibly damaging Het
AI314180 A T 4: 58,800,288 C1806S probably benign Het
Akap11 A T 14: 78,510,368 Y1526* probably null Het
Brd1 T C 15: 88,688,374 I1165V probably benign Het
Btbd11 G T 10: 85,388,483 probably null Het
Cdan1 T C 2: 120,727,912 D473G possibly damaging Het
Clstn3 G A 6: 124,459,263 L176F probably damaging Het
Ctif T C 18: 75,521,618 N279S probably benign Het
Dpy19l3 A G 7: 35,752,672 S16P probably benign Het
Fam151b T C 13: 92,450,193 Y244C probably benign Het
Gbf1 T C 19: 46,267,348 M750T possibly damaging Het
Gm11564 T A 11: 99,815,053 T184S unknown Het
Gnptab A G 10: 88,436,371 K958E possibly damaging Het
Hibch T C 1: 52,885,151 S162P possibly damaging Het
Itpr1 T C 6: 108,523,401 S2651P probably benign Het
Lyrm1 A G 7: 119,914,180 D56G probably damaging Het
Manba T C 3: 135,551,159 Y528H probably damaging Het
Npas2 A C 1: 39,313,028 E186D probably damaging Het
Olfr371 A T 8: 85,230,629 I45F possibly damaging Het
Olfr867 C A 9: 20,055,372 L30F probably benign Het
Oraov1 A G 7: 144,916,460 E42G probably damaging Het
Pcdhb6 T A 18: 37,335,587 Y520* probably null Het
Plekhm1 C T 11: 103,377,381 R588H probably benign Het
Psg23 A T 7: 18,610,416 H371Q probably benign Het
Ptpn12 T C 5: 21,002,612 probably benign Het
Rela T C 19: 5,639,881 C120R probably damaging Het
Rps6kc1 T A 1: 190,799,811 I665F probably damaging Het
Spg21 A G 9: 65,473,708 Q99R probably benign Het
St14 A G 9: 31,097,071 probably null Het
Sult1c2 A T 17: 53,830,071 N274K probably benign Het
Syk T C 13: 52,622,732 V256A probably benign Het
Tcte1 A G 17: 45,533,296 D66G probably damaging Het
Tgm4 C T 9: 123,056,515 T374M probably damaging Het
Tns4 T C 11: 99,068,269 H668R probably damaging Het
Tsn C T 1: 118,305,269 A102T possibly damaging Het
Uvssa T A 5: 33,391,845 S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 Y31F possibly damaging Het
Vmn2r114 A T 17: 23,296,996 probably benign Het
Vmn2r27 T C 6: 124,192,317 D618G possibly damaging Het
Vmn2r91 T A 17: 18,110,111 probably benign Het
Vti1a T C 19: 55,391,847 Y143H probably damaging Het
Zfand4 T A 6: 116,273,659 Y17N probably damaging Het
Zfp729a T C 13: 67,619,642 probably null Het
Zfp827 A G 8: 79,060,957 T251A probably damaging Het
Other mutations in Olfr1314
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Olfr1314 APN 2 112092094 missense probably damaging 0.99
IGL01701:Olfr1314 APN 2 112092506 missense possibly damaging 0.69
IGL02085:Olfr1314 APN 2 112092524 missense probably damaging 1.00
IGL02156:Olfr1314 APN 2 112092016 missense probably benign 0.12
IGL02266:Olfr1314 APN 2 112092243 missense probably benign 0.05
IGL02396:Olfr1314 APN 2 112092467 missense probably benign 0.20
IGL02602:Olfr1314 APN 2 112092561 missense probably benign 0.00
R0452:Olfr1314 UTSW 2 112092636 nonsense probably null
R1498:Olfr1314 UTSW 2 112092593 missense probably benign 0.40
R1514:Olfr1314 UTSW 2 112092036 missense probably benign 0.01
R1852:Olfr1314 UTSW 2 112091847 missense probably benign 0.03
R2118:Olfr1314 UTSW 2 112092330 missense probably benign 0.02
R2219:Olfr1314 UTSW 2 112092407 missense probably damaging 0.99
R2357:Olfr1314 UTSW 2 112092398 missense possibly damaging 0.69
R3743:Olfr1314 UTSW 2 112092620 missense probably benign 0.33
R4692:Olfr1314 UTSW 2 112092681 missense probably damaging 1.00
R5092:Olfr1314 UTSW 2 112092107 missense possibly damaging 0.94
R5150:Olfr1314 UTSW 2 112092535 missense possibly damaging 0.95
R5230:Olfr1314 UTSW 2 112092389 missense probably benign 0.12
R5991:Olfr1314 UTSW 2 112092615 missense probably benign 0.30
R7894:Olfr1314 UTSW 2 112092477 missense probably benign
Z1177:Olfr1314 UTSW 2 112092584 missense possibly damaging 0.88
Posted On2016-08-02