Incidental Mutation 'IGL02183:Or14j1'
ID 284318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14j1
Ensembl Gene ENSMUSG00000050613
Gene Name olfactory receptor family 14 subfamily J member 1
Synonyms Olfr125, MOR218-8, GA_x6K02T2PSCP-2291580-2292542
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02183
Quality Score
Status
Chromosome 17
Chromosomal Location 38145802-38146919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38146304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 138 (C138F)
Ref Sequence ENSEMBL: ENSMUSP00000149602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050255] [ENSMUST00000213857]
AlphaFold Q14AJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000050255
AA Change: C138F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055221
Gene: ENSMUSG00000050613
AA Change: C138F

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.7e-47 PFAM
Pfam:7tm_1 38 318 7.6e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174655
Predicted Effect probably damaging
Transcript: ENSMUST00000213857
AA Change: C138F

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Apcdd1 T C 18: 63,084,925 (GRCm39) M374T probably damaging Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Celf1 C T 2: 90,831,831 (GRCm39) P96S probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Csn1s1 G A 5: 87,825,477 (GRCm39) S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,886 (GRCm39) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pan2 T A 10: 128,144,944 (GRCm39) H230Q possibly damaging Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Ppargc1b T A 18: 61,442,167 (GRCm39) probably null Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Serpinb13 T C 1: 106,926,640 (GRCm39) M212T probably damaging Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S probably benign Het
Other mutations in Or14j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Or14j1 APN 17 38,145,944 (GRCm39) missense probably benign
IGL02103:Or14j1 APN 17 38,146,169 (GRCm39) missense possibly damaging 0.91
IGL02121:Or14j1 APN 17 38,146,832 (GRCm39) missense probably benign 0.01
IGL02208:Or14j1 APN 17 38,146,415 (GRCm39) missense probably damaging 1.00
IGL02822:Or14j1 APN 17 38,146,534 (GRCm39) missense possibly damaging 0.95
IGL02833:Or14j1 APN 17 38,146,831 (GRCm39) missense probably benign 0.02
IGL03324:Or14j1 APN 17 38,146,165 (GRCm39) missense probably benign 0.23
R1689:Or14j1 UTSW 17 38,146,495 (GRCm39) missense possibly damaging 0.88
R1719:Or14j1 UTSW 17 38,146,244 (GRCm39) missense possibly damaging 0.76
R1878:Or14j1 UTSW 17 38,146,253 (GRCm39) missense probably benign 0.03
R2064:Or14j1 UTSW 17 38,145,893 (GRCm39) start codon destroyed probably null 0.06
R2696:Or14j1 UTSW 17 38,145,998 (GRCm39) missense probably benign 0.00
R3800:Or14j1 UTSW 17 38,146,848 (GRCm39) missense probably benign
R4469:Or14j1 UTSW 17 38,146,607 (GRCm39) missense probably benign 0.35
R4801:Or14j1 UTSW 17 38,146,240 (GRCm39) missense probably damaging 1.00
R4802:Or14j1 UTSW 17 38,146,240 (GRCm39) missense probably damaging 1.00
R5473:Or14j1 UTSW 17 38,146,630 (GRCm39) missense probably benign 0.04
R6743:Or14j1 UTSW 17 38,146,694 (GRCm39) missense probably damaging 1.00
R7481:Or14j1 UTSW 17 38,146,289 (GRCm39) missense probably damaging 1.00
R8349:Or14j1 UTSW 17 38,146,561 (GRCm39) missense probably damaging 0.99
R8449:Or14j1 UTSW 17 38,146,561 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16