Incidental Mutation 'IGL01943:Or14j1'
ID 180917
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 # IGL01943
Quality Score
Status
Chromosome 17
Chromosomal Location 38145802-38146919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38145944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 18 (R18H)
Ref Sequence ENSEMBL: ENSMUSP00000149602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050255] [ENSMUST00000213857]
AlphaFold Q14AJ9
Predicted Effect probably benign
Transcript: ENSMUST00000050255
AA Change: R18H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055221
Gene: ENSMUSG00000050613
AA Change: R18H

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.7e-47 PFAM
Pfam:7tm_1 38 318 7.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213857
AA Change: R18H

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) probably benign Het
Other mutations in Or14j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02183:Or14j1 APN 17 38,146,304 (GRCm39) missense probably damaging 1.00
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 2014-05-07