Incidental Mutation 'IGL02259:Or2n1'
ID 286654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2n1
Ensembl Gene ENSMUSG00000096009
Gene Name olfactory receptor family 2 subfamily N member 1
Synonyms GA_x6K02T2PSCP-2623613-2624551, MOR256-5, Olfr134
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02259
Quality Score
Status
Chromosome 17
Chromosomal Location 38485977-38486915 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38486577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 201 (V201L)
Ref Sequence ENSEMBL: ENSMUSP00000151069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074883] [ENSMUST00000215900]
AlphaFold Q8VG95
Predicted Effect probably benign
Transcript: ENSMUST00000074883
AA Change: V201L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000074423
Gene: ENSMUSG00000096009
AA Change: V201L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.4e-50 PFAM
Pfam:7tm_1 41 290 2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215900
AA Change: V201L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 A G 14: 44,239,363 (GRCm39) F122L probably benign Het
Atm A T 9: 53,429,794 (GRCm39) probably benign Het
Ccsap G A 8: 124,572,166 (GRCm39) T112M possibly damaging Het
Cd63 T C 10: 128,747,843 (GRCm39) S113P probably benign Het
Cntnap5c T C 17: 58,341,857 (GRCm39) F183L probably damaging Het
Cux1 T A 5: 136,355,687 (GRCm39) S321C probably damaging Het
Cyp2ab1 G A 16: 20,131,897 (GRCm39) T281I probably damaging Het
Cyp2c40 A C 19: 39,792,246 (GRCm39) C233G probably benign Het
Dnah8 T C 17: 30,978,588 (GRCm39) I2955T probably benign Het
Drc7 A G 8: 95,782,733 (GRCm39) T33A probably benign Het
Gigyf2 T A 1: 87,339,559 (GRCm39) Y481N probably damaging Het
Gsap A T 5: 21,391,398 (GRCm39) E13V probably benign Het
Ifna4 A G 4: 88,760,293 (GRCm39) K66E probably damaging Het
Kif14 T A 1: 136,427,840 (GRCm39) M1103K probably benign Het
Kif6 A T 17: 50,202,919 (GRCm39) probably benign Het
Lsm14a G T 7: 34,070,558 (GRCm39) P113T probably damaging Het
Med12l T A 3: 59,153,264 (GRCm39) N1096K probably damaging Het
Med13 C A 11: 86,248,327 (GRCm39) G9W possibly damaging Het
Minar1 A T 9: 89,484,412 (GRCm39) H328Q possibly damaging Het
Nbr1 G A 11: 101,468,816 (GRCm39) A639T probably damaging Het
Nid2 G T 14: 19,818,277 (GRCm39) probably null Het
Numa1 A G 7: 101,636,955 (GRCm39) D22G possibly damaging Het
Or13p10 G A 4: 118,523,634 (GRCm39) V307I probably benign Het
Phkg2 A G 7: 127,181,458 (GRCm39) probably benign Het
Plcb4 T C 2: 135,752,166 (GRCm39) probably null Het
Plch1 C T 3: 63,630,170 (GRCm39) probably null Het
Prb1b A T 6: 132,289,637 (GRCm39) D62E unknown Het
Prl8a1 A C 13: 27,766,089 (GRCm39) V2G probably benign Het
Spata31 T C 13: 65,069,297 (GRCm39) S482P possibly damaging Het
Tbc1d4 A G 14: 101,703,166 (GRCm39) C760R probably damaging Het
Tgs1 A G 4: 3,604,743 (GRCm39) N722D probably damaging Het
Tmcc2 T C 1: 132,288,898 (GRCm39) D28G probably benign Het
Zfp457 C T 13: 67,444,471 (GRCm39) A11T possibly damaging Het
Zfp879 T C 11: 50,729,255 (GRCm39) S48G probably benign Het
Other mutations in Or2n1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Or2n1 APN 17 38,486,766 (GRCm39) missense probably damaging 1.00
IGL01749:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01750:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01751:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01753:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01757:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01765:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01766:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01767:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL01822:Or2n1 APN 17 38,486,339 (GRCm39) missense probably damaging 1.00
IGL02256:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL02257:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL02258:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL02275:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL02293:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL02295:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL02317:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
IGL02318:Or2n1 APN 17 38,486,577 (GRCm39) missense probably benign 0.04
R0230:Or2n1 UTSW 17 38,486,841 (GRCm39) missense probably damaging 1.00
R0363:Or2n1 UTSW 17 38,486,338 (GRCm39) missense probably damaging 1.00
R1074:Or2n1 UTSW 17 38,486,331 (GRCm39) missense probably damaging 1.00
R1506:Or2n1 UTSW 17 38,486,091 (GRCm39) missense probably benign
R2300:Or2n1 UTSW 17 38,486,441 (GRCm39) nonsense probably null
R3743:Or2n1 UTSW 17 38,486,793 (GRCm39) missense probably damaging 1.00
R3975:Or2n1 UTSW 17 38,486,386 (GRCm39) missense probably benign 0.03
R4230:Or2n1 UTSW 17 38,486,772 (GRCm39) missense possibly damaging 0.67
R5158:Or2n1 UTSW 17 38,486,345 (GRCm39) nonsense probably null
R5439:Or2n1 UTSW 17 38,486,917 (GRCm39) splice site probably null
R6144:Or2n1 UTSW 17 38,486,116 (GRCm39) missense probably damaging 1.00
R6309:Or2n1 UTSW 17 38,486,410 (GRCm39) missense probably benign 0.00
R6675:Or2n1 UTSW 17 38,486,905 (GRCm39) missense probably benign
R6800:Or2n1 UTSW 17 38,486,013 (GRCm39) missense probably benign 0.01
R6873:Or2n1 UTSW 17 38,486,259 (GRCm39) missense probably benign
R7193:Or2n1 UTSW 17 38,485,987 (GRCm39) missense probably benign 0.44
R7534:Or2n1 UTSW 17 38,486,188 (GRCm39) missense probably benign 0.22
R7869:Or2n1 UTSW 17 38,486,830 (GRCm39) missense possibly damaging 0.94
R7912:Or2n1 UTSW 17 38,486,158 (GRCm39) missense probably damaging 0.99
R8048:Or2n1 UTSW 17 38,486,419 (GRCm39) missense probably benign 0.11
R8305:Or2n1 UTSW 17 38,486,464 (GRCm39) missense probably damaging 1.00
R9396:Or2n1 UTSW 17 38,486,421 (GRCm39) missense probably damaging 1.00
R9445:Or2n1 UTSW 17 38,486,694 (GRCm39) missense probably damaging 1.00
X0011:Or2n1 UTSW 17 38,486,742 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16