Incidental Mutation 'IGL02409:Or1j14'
ID 292211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1j14
Ensembl Gene ENSMUSG00000111869
Gene Name olfactory receptor family 1 subfamily J member 14
Synonyms GA_x6K02T2NLDC-33222024-33222962, MOR136-4, Olfr342
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.290) question?
Stock # IGL02409
Quality Score
Status
Chromosome 2
Chromosomal Location 36415010-36420802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36418165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 247 (V247E)
Ref Sequence ENSEMBL: ENSMUSP00000149751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074192] [ENSMUST00000216275]
AlphaFold Q8VGK7
Predicted Effect probably damaging
Transcript: ENSMUST00000074192
AA Change: V247E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: V247E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.7e-56 PFAM
Pfam:7tm_1 41 290 2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213794
Predicted Effect probably damaging
Transcript: ENSMUST00000216275
AA Change: V247E

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]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,532,782 (GRCm39) M104L probably benign Het
Cdkn1a T C 17: 29,317,428 (GRCm39) V16A probably benign Het
Celsr2 C A 3: 108,321,271 (GRCm39) V514F probably damaging Het
Cmklr2 T A 1: 63,222,875 (GRCm39) N120I probably damaging Het
Cmya5 T C 13: 93,226,706 (GRCm39) N2794S probably damaging Het
Dnmt1 T C 9: 20,837,793 (GRCm39) T281A probably benign Het
Dock2 A T 11: 34,451,204 (GRCm39) N840K probably benign Het
Dscam T C 16: 96,621,088 (GRCm39) N540S possibly damaging Het
Elavl1 A T 8: 4,339,838 (GRCm39) I248N possibly damaging Het
Fam120a A G 13: 49,120,835 (GRCm39) V157A probably benign Het
Fcrl2 G A 3: 87,160,030 (GRCm39) P408L probably benign Het
Grin2b T A 6: 136,020,906 (GRCm39) M132L possibly damaging Het
Herc2 T A 7: 55,870,217 (GRCm39) probably null Het
Lrp1b T G 2: 41,335,208 (GRCm39) K778T possibly damaging Het
Mapk10 T A 5: 103,076,096 (GRCm39) E389D possibly damaging Het
Ms4a7 G T 19: 11,301,807 (GRCm39) Y62* probably null Het
Muc5b A G 7: 141,415,075 (GRCm39) T2674A possibly damaging Het
Nbeal1 T C 1: 60,368,494 (GRCm39) L2613P probably benign Het
Ncapg2 A T 12: 116,384,337 (GRCm39) Y266F probably damaging Het
Or10a3m A G 7: 108,313,366 (GRCm39) I269V probably benign Het
Or14j6 T C 17: 38,214,679 (GRCm39) Y81H probably damaging Het
Or4c110 C T 2: 88,832,254 (GRCm39) C126Y possibly damaging Het
Pkd1 T A 17: 24,792,597 (GRCm39) I1428N probably benign Het
Ppil4 T C 10: 7,674,328 (GRCm39) probably benign Het
Rev3l T C 10: 39,697,144 (GRCm39) V547A possibly damaging Het
Rgsl1 T C 1: 153,701,989 (GRCm39) K155R possibly damaging Het
Skap2 T C 6: 51,884,938 (GRCm39) D234G possibly damaging Het
Sult2a4 C T 7: 13,718,844 (GRCm39) W133* probably null Het
Tbc1d2b C T 9: 90,104,405 (GRCm39) S579N probably benign Het
Tdrkh T A 3: 94,337,919 (GRCm39) probably benign Het
Thumpd2 A T 17: 81,340,117 (GRCm39) F377L probably damaging Het
Tmem132d T C 5: 127,861,952 (GRCm39) D723G probably damaging Het
Tnfrsf23 A T 7: 143,222,308 (GRCm39) L168Q probably damaging Het
Ttn T C 2: 76,784,974 (GRCm39) T818A unknown Het
Uox A T 3: 146,330,381 (GRCm39) D130V probably benign Het
Vmn2r45 T C 7: 8,488,727 (GRCm39) Y101C probably benign Het
Wdr1 C T 5: 38,688,453 (GRCm39) D161N probably benign Het
Other mutations in Or1j14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Or1j14 APN 2 36,418,005 (GRCm39) missense probably benign 0.22
IGL01372:Or1j14 APN 2 36,417,463 (GRCm39) missense probably benign 0.00
IGL01747:Or1j14 APN 2 36,417,844 (GRCm39) missense probably damaging 1.00
IGL01836:Or1j14 APN 2 36,417,837 (GRCm39) nonsense probably null
IGL02578:Or1j14 APN 2 36,418,156 (GRCm39) missense probably damaging 1.00
IGL03344:Or1j14 APN 2 36,418,140 (GRCm39) missense probably damaging 1.00
IGL03396:Or1j14 APN 2 36,417,692 (GRCm39) missense probably benign 0.00
R0086:Or1j14 UTSW 2 36,417,462 (GRCm39) missense possibly damaging 0.69
R0427:Or1j14 UTSW 2 36,417,994 (GRCm39) missense probably damaging 1.00
R0973:Or1j14 UTSW 2 36,418,020 (GRCm39) missense probably benign 0.13
R0973:Or1j14 UTSW 2 36,418,020 (GRCm39) missense probably benign 0.13
R0974:Or1j14 UTSW 2 36,418,020 (GRCm39) missense probably benign 0.13
R2183:Or1j14 UTSW 2 36,417,723 (GRCm39) nonsense probably null
R2437:Or1j14 UTSW 2 36,418,258 (GRCm39) missense probably damaging 1.00
R4060:Or1j14 UTSW 2 36,417,426 (GRCm39) start codon destroyed probably null 0.01
R4982:Or1j14 UTSW 2 36,417,409 (GRCm39) critical splice acceptor site probably null
R5070:Or1j14 UTSW 2 36,417,778 (GRCm39) missense probably damaging 1.00
R6244:Or1j14 UTSW 2 36,418,353 (GRCm39) missense probably benign 0.00
R8350:Or1j14 UTSW 2 36,418,176 (GRCm39) missense probably damaging 1.00
R8690:Or1j14 UTSW 2 36,418,207 (GRCm39) missense probably benign 0.22
R9105:Or1j14 UTSW 2 36,418,294 (GRCm39) missense probably damaging 1.00
R9224:Or1j14 UTSW 2 36,417,838 (GRCm39) missense probably benign 0.00
R9249:Or1j14 UTSW 2 36,417,559 (GRCm39) missense probably damaging 1.00
R9274:Or1j14 UTSW 2 36,417,559 (GRCm39) missense probably damaging 1.00
R9465:Or1j14 UTSW 2 36,417,898 (GRCm39) missense probably benign 0.02
R9644:Or1j14 UTSW 2 36,417,777 (GRCm39) missense probably damaging 1.00
R9700:Or1j14 UTSW 2 36,418,313 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16