Incidental Mutation 'IGL02216:Or7e169'
ID 284870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or7e169
Ensembl Gene ENSMUSG00000066905
Gene Name olfactory receptor family 7 subfamily E member 169
Synonyms GA_x6K02T2PVTD-13586614-13585661, Olfr860, MOR146-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02216
Quality Score
Status
Chromosome 9
Chromosomal Location 19756919-19761043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19757861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 18 (S18L)
Ref Sequence ENSEMBL: ENSMUSP00000148658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086482] [ENSMUST00000211924] [ENSMUST00000212353]
AlphaFold Q8VFF7
Predicted Effect probably damaging
Transcript: ENSMUST00000086482
AA Change: S18L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130735
Gene: ENSMUSG00000066905
AA Change: S18L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.5e-56 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.1e-8 PFAM
Pfam:7tm_1 41 290 9.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211924
AA Change: S18L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212353
AA Change: S18L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212525
AA Change: S18L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212838
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik T C 11: 70,507,005 (GRCm39) F48L possibly damaging Het
Adamts12 A G 15: 11,241,571 (GRCm39) N381S possibly damaging Het
Akp3 A T 1: 87,055,372 (GRCm39) Q473L probably damaging Het
Albfm1 T C 5: 90,727,438 (GRCm39) probably benign Het
Ap5s1 T A 2: 131,054,887 (GRCm39) probably benign Het
Atp10b T A 11: 43,150,616 (GRCm39) L1438Q probably damaging Het
B3galt4 G A 17: 34,169,539 (GRCm39) P233L probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cc2d1a C A 8: 84,865,942 (GRCm39) E393* probably null Het
Cd209a G T 8: 3,795,576 (GRCm39) T165N probably damaging Het
Chid1 T C 7: 141,076,506 (GRCm39) probably benign Het
Cln3 A T 7: 126,174,514 (GRCm39) probably null Het
Cped1 A T 6: 22,059,944 (GRCm39) R203S probably damaging Het
Dele1 A T 18: 38,385,913 (GRCm39) I102F probably damaging Het
Dnttip2 G T 3: 122,069,910 (GRCm39) W375L probably benign Het
Dync1h1 T C 12: 110,629,436 (GRCm39) F4280S probably damaging Het
Ephb4 A G 5: 137,370,332 (GRCm39) D844G possibly damaging Het
Fhl2 T A 1: 43,170,879 (GRCm39) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm39) K458E probably benign Het
Grid2 G T 6: 64,322,650 (GRCm39) R550L probably damaging Het
Klhl1 T A 14: 96,360,658 (GRCm39) T731S probably benign Het
Kng1 T A 16: 22,877,283 (GRCm39) D30E probably damaging Het
Kyat1 A G 2: 30,077,264 (GRCm39) V158A probably benign Het
Mcm8 G T 2: 132,681,449 (GRCm39) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm39) H3638Y probably benign Het
Neb T G 2: 52,116,502 (GRCm39) T4158P probably benign Het
Neo1 T C 9: 58,824,336 (GRCm39) I697M probably damaging Het
Nfkb1 A T 3: 135,300,724 (GRCm39) V614D probably damaging Het
Otog T C 7: 45,950,892 (GRCm39) S2555P probably damaging Het
Pkd1l1 T A 11: 8,784,897 (GRCm39) R1962S probably damaging Het
Plxnb1 A G 9: 108,929,918 (GRCm39) Y258C probably damaging Het
Pramel12 T A 4: 143,144,298 (GRCm39) probably null Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Rag1 A T 2: 101,473,726 (GRCm39) V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,506,641 (GRCm39) probably benign Het
Rnf112 C T 11: 61,340,804 (GRCm39) V472M probably damaging Het
Rps18 A G 17: 34,171,015 (GRCm39) probably benign Het
Rptn T C 3: 93,303,080 (GRCm39) S138P possibly damaging Het
Sbpl A C 17: 24,172,690 (GRCm39) N76K probably benign Het
Sh3bp1 A T 15: 78,789,364 (GRCm39) M241L probably benign Het
Slc22a17 T C 14: 55,145,433 (GRCm39) *198W probably null Het
Smc3 C T 19: 53,610,275 (GRCm39) R221C probably damaging Het
Snai1 A G 2: 167,380,768 (GRCm39) E87G probably benign Het
Snx22 C A 9: 65,976,470 (GRCm39) A49S probably benign Het
Tas2r143 A T 6: 42,377,268 (GRCm39) R33* probably null Het
Try4 A G 6: 41,281,965 (GRCm39) I184V probably benign Het
Ttn T A 2: 76,584,896 (GRCm39) K20355* probably null Het
Ttn A G 2: 76,622,069 (GRCm39) V15491A probably benign Het
Tut7 T C 13: 59,948,237 (GRCm39) T293A probably benign Het
Vmn1r170 A G 7: 23,305,915 (GRCm39) T106A probably damaging Het
Vmn2r59 A T 7: 41,661,817 (GRCm39) V666E probably damaging Het
Vsx1 T C 2: 150,526,495 (GRCm39) N221S possibly damaging Het
Zfp846 A G 9: 20,499,905 (GRCm39) E45G probably damaging Het
Other mutations in Or7e169
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Or7e169 APN 9 19,757,555 (GRCm39) missense probably damaging 1.00
IGL02269:Or7e169 APN 9 19,757,024 (GRCm39) missense possibly damaging 0.85
IGL02964:Or7e169 APN 9 19,757,550 (GRCm39) nonsense probably null
R0042:Or7e169 UTSW 9 19,757,075 (GRCm39) missense probably benign
R1505:Or7e169 UTSW 9 19,757,084 (GRCm39) missense probably benign 0.39
R1941:Or7e169 UTSW 9 19,757,246 (GRCm39) missense probably damaging 0.99
R2030:Or7e169 UTSW 9 19,757,709 (GRCm39) missense probably benign 0.30
R3150:Or7e169 UTSW 9 19,757,510 (GRCm39) missense possibly damaging 0.80
R4597:Or7e169 UTSW 9 19,756,987 (GRCm39) missense probably benign 0.01
R5004:Or7e169 UTSW 9 19,757,398 (GRCm39) missense probably benign 0.00
R5006:Or7e169 UTSW 9 19,757,567 (GRCm39) missense probably benign 0.33
R5350:Or7e169 UTSW 9 19,757,912 (GRCm39) start codon destroyed probably null 0.97
R6163:Or7e169 UTSW 9 19,757,024 (GRCm39) missense probably benign 0.45
R6368:Or7e169 UTSW 9 19,757,705 (GRCm39) missense probably damaging 1.00
R7206:Or7e169 UTSW 9 19,757,856 (GRCm39) missense probably damaging 0.99
R7315:Or7e169 UTSW 9 19,757,131 (GRCm39) missense probably damaging 0.99
R8195:Or7e169 UTSW 9 19,757,780 (GRCm39) missense probably damaging 0.99
R8537:Or7e169 UTSW 9 19,757,848 (GRCm39) missense probably damaging 0.96
R8546:Or7e169 UTSW 9 19,757,685 (GRCm39) missense probably damaging 0.99
R8803:Or7e169 UTSW 9 19,757,462 (GRCm39) missense possibly damaging 0.95
R9049:Or7e169 UTSW 9 19,757,045 (GRCm39) missense probably damaging 1.00
R9164:Or7e169 UTSW 9 19,757,504 (GRCm39) missense possibly damaging 0.73
R9254:Or7e169 UTSW 9 19,757,212 (GRCm39) missense possibly damaging 0.83
R9379:Or7e169 UTSW 9 19,757,212 (GRCm39) missense possibly damaging 0.83
R9513:Or7e169 UTSW 9 19,757,816 (GRCm39) missense possibly damaging 0.73
R9515:Or7e169 UTSW 9 19,757,816 (GRCm39) missense possibly damaging 0.73
Posted On 2015-04-16