Incidental Mutation 'IGL02121:Or14j1'
ID 280618
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 # IGL02121
Quality Score
Status
Chromosome 17
Chromosomal Location 38145802-38146919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38146832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 314 (V314A)
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: V314A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000055221
Gene: ENSMUSG00000050613
AA Change: V314A

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 benign
Transcript: ENSMUST00000213857
AA Change: V314A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,159,038 (GRCm39) V122D unknown Het
4930579F01Rik T G 3: 137,870,134 (GRCm39) Y199S possibly damaging Het
Abca6 T A 11: 110,073,750 (GRCm39) I1434F probably benign Het
Acsm1 T C 7: 119,257,635 (GRCm39) V467A possibly damaging Het
Alg3 T C 16: 20,425,285 (GRCm39) T260A possibly damaging Het
Aoc1 A G 6: 48,883,254 (GRCm39) probably null Het
Ap5b1 C T 19: 5,620,815 (GRCm39) T745I possibly damaging Het
Atp6v1c2 T G 12: 17,341,441 (GRCm39) K272Q possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cert1 T G 13: 96,735,982 (GRCm39) Y181D probably benign Het
Clcn7 C T 17: 25,372,058 (GRCm39) A426V possibly damaging Het
Clec14a T C 12: 58,315,223 (GRCm39) E133G probably damaging Het
Dst T A 1: 34,267,738 (GRCm39) V2720E probably damaging Het
Efr3a C T 15: 65,742,999 (GRCm39) probably benign Het
Fam83g T C 11: 61,575,609 (GRCm39) S84P probably benign Het
Gm7251 T C 13: 49,959,382 (GRCm39) noncoding transcript Het
Gnptab T G 10: 88,265,323 (GRCm39) S312A possibly damaging Het
Grap2 C A 15: 80,532,076 (GRCm39) S230R possibly damaging Het
Grm6 T A 11: 50,750,483 (GRCm39) C549S probably damaging Het
Gtf3c1 A T 7: 125,245,903 (GRCm39) L1504* probably null Het
Iars1 A G 13: 49,878,172 (GRCm39) M899V probably benign Het
Il1rl1 T A 1: 40,481,463 (GRCm39) probably benign Het
Kcna4 T C 2: 107,126,963 (GRCm39) Y566H possibly damaging Het
Kcnn2 T C 18: 45,694,340 (GRCm39) I175T probably damaging Het
Kcnt1 C T 2: 25,791,877 (GRCm39) T609I probably damaging Het
Kif3b A G 2: 153,159,194 (GRCm39) R332G probably damaging Het
Mansc1 T C 6: 134,598,800 (GRCm39) D39G probably damaging Het
Med12 T C X: 100,331,948 (GRCm39) probably benign Het
Mmp1b G T 9: 7,384,935 (GRCm39) T238K probably benign Het
Nav3 A G 10: 109,594,897 (GRCm39) S1435P probably damaging Het
Npc1l1 A G 11: 6,178,157 (GRCm39) S418P probably benign Het
Or2ab1 T C 11: 58,488,408 (GRCm39) V62A possibly damaging Het
Or3a1b A G 11: 74,012,113 (GRCm39) probably benign Het
Or52a24 A G 7: 103,381,676 (GRCm39) Y181C probably damaging Het
Or52h1 A C 7: 103,829,432 (GRCm39) M61R probably damaging Het
Or6ae1 G T 7: 139,742,607 (GRCm39) D85E probably benign Het
Or8b3b T C 9: 38,584,711 (GRCm39) T23A probably damaging Het
Otoa A G 7: 120,721,247 (GRCm39) T421A probably benign Het
Otulin G A 15: 27,608,823 (GRCm39) A42V probably damaging Het
Pcdhb1 T A 18: 37,398,838 (GRCm39) V263E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Phip A T 9: 82,775,423 (GRCm39) V1053D probably damaging Het
Pkd1 G A 17: 24,794,901 (GRCm39) R2196H probably benign Het
Plin4 T A 17: 56,409,131 (GRCm39) Q1363L probably damaging Het
Pp2d1 C A 17: 53,814,949 (GRCm39) V592L probably damaging Het
Pramel51 T C 12: 88,145,242 (GRCm39) D28G possibly damaging Het
Prkdc T G 16: 15,535,048 (GRCm39) M1649R probably benign Het
Ptk2b T C 14: 66,450,931 (GRCm39) K12E probably benign Het
Rars2 G A 4: 34,657,219 (GRCm39) V522I probably damaging Het
Rpgrip1 T A 14: 52,384,831 (GRCm39) N646K possibly damaging Het
Sars2 A G 7: 28,451,950 (GRCm39) probably benign Het
Sgo2b T C 8: 64,384,316 (GRCm39) T227A possibly damaging Het
Smc1b T C 15: 84,982,186 (GRCm39) T703A probably benign Het
Stk32a G T 18: 43,446,572 (GRCm39) D341Y probably benign Het
Thap11 T C 8: 106,582,546 (GRCm39) V185A possibly damaging Het
Ttll10 C A 4: 156,132,890 (GRCm39) V65F probably benign Het
Ube2q1 T A 3: 89,687,769 (GRCm39) N111K possibly damaging Het
Upf2 C A 2: 6,031,134 (GRCm39) probably benign Het
Utp25 A T 1: 192,800,586 (GRCm39) D411E probably benign Het
Vasp T A 7: 18,991,637 (GRCm39) probably benign Het
Vmn2r104 C T 17: 20,262,056 (GRCm39) W358* probably null Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wdfy3 C T 5: 102,046,376 (GRCm39) G1826R possibly damaging Het
Wdr7 T A 18: 63,910,616 (GRCm39) Y669* probably null Het
Wdr72 T A 9: 74,189,011 (GRCm39) 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
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 2015-04-16