Incidental Mutation 'IGL01903:Or14j5'
ID 179577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14j5
Ensembl Gene ENSMUSG00000109212
Gene Name olfactory receptor family 14 subfamily J member 5
Synonyms Olfr126, GA_x6K02T2PSCP-2307164-2308123, MOR218-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # IGL01903
Quality Score
Status
Chromosome 17
Chromosomal Location 38161485-38162444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37920758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 295 (I295V)
Ref Sequence ENSEMBL: ENSMUSP00000152714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076936] [ENSMUST00000221552] [ENSMUST00000223366]
AlphaFold Q8VGF0
Predicted Effect probably benign
Transcript: ENSMUST00000076936
AA Change: I297V

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076203
Gene: ENSMUSG00000092413
AA Change: I297V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 24 252 2.6e-7 PFAM
Pfam:7tm_4 31 308 3.2e-45 PFAM
Pfam:7tm_1 41 290 2.3e-21 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000133907
Gene: ENSMUSG00000092413
AA Change: I295V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8.2e-46 PFAM
Pfam:7TM_GPCR_Srx 32 307 2.9e-9 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.4e-8 PFAM
Pfam:7tm_1 41 290 5.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207850
Predicted Effect possibly damaging
Transcript: ENSMUST00000221552
AA Change: I295V

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223366
AA Change: I295V

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,949,050 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,231 (GRCm39) probably null Het
Asxl3 T A 18: 22,567,633 (GRCm39) D70E probably benign Het
Atat1 T A 17: 36,208,692 (GRCm39) I380L probably benign Het
Ccnj A G 19: 40,834,454 (GRCm39) E351G probably damaging Het
Clca4b A T 3: 144,634,020 (GRCm39) Y132N probably damaging Het
Cttnbp2 A C 6: 18,501,964 (GRCm39) V16G probably damaging Het
Gcdh A T 8: 85,615,233 (GRCm39) L389Q probably damaging Het
Ggta1 A T 2: 35,292,569 (GRCm39) F258Y possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3696 T A 14: 18,434,983 (GRCm39) probably benign Het
Gramd2b A T 18: 56,607,101 (GRCm39) S72C probably damaging Het
Hal G A 10: 93,336,469 (GRCm39) probably benign Het
Haus4 A T 14: 54,779,886 (GRCm39) S288T possibly damaging Het
Herc1 A T 9: 66,294,154 (GRCm39) K499* probably null Het
Hyou1 C T 9: 44,292,438 (GRCm39) probably benign Het
Kng2 C T 16: 22,806,540 (GRCm39) R553Q possibly damaging Het
Leng9 G A 7: 4,151,746 (GRCm39) A310V probably damaging Het
Magi3 G T 3: 103,958,526 (GRCm39) Q520K possibly damaging Het
Mark1 A G 1: 184,661,577 (GRCm39) probably benign Het
Mybl1 T A 1: 9,741,801 (GRCm39) probably null Het
Ncapd2 A G 6: 125,154,423 (GRCm39) S598P probably benign Het
Or4k47 T C 2: 111,452,003 (GRCm39) K139E probably benign Het
Or5a3 G A 19: 12,400,047 (GRCm39) V125I probably benign Het
Or5aq1 A C 2: 86,965,723 (GRCm39) probably null Het
Otud6b C T 4: 14,818,458 (GRCm39) E148K probably benign Het
Pgghg A G 7: 140,526,741 (GRCm39) Q686R probably benign Het
Pkhd1 C A 1: 20,268,361 (GRCm39) C3339F probably damaging Het
Pla2g4a T C 1: 149,716,370 (GRCm39) D697G possibly damaging Het
Serping1 A T 2: 84,600,116 (GRCm39) probably null Het
Sfxn4 T C 19: 60,847,118 (GRCm39) Y55C probably damaging Het
Sh3bp5l A G 11: 58,236,864 (GRCm39) R274G probably damaging Het
Snx13 A G 12: 35,135,968 (GRCm39) T88A probably benign Het
Spz1 G T 13: 92,711,407 (GRCm39) N356K probably damaging Het
Taf2 A T 15: 54,923,412 (GRCm39) F288L probably benign Het
Tti1 T C 2: 157,842,542 (GRCm39) E829G probably benign Het
Ube2z T C 11: 95,955,826 (GRCm39) D92G possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r7 A G 3: 64,626,864 (GRCm39) Y142H probably benign Het
Zfp397 T A 18: 24,093,086 (GRCm39) N190K probably benign Het
Other mutations in Or14j5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Or14j5 APN 17 38,161,514 (GRCm39) missense probably benign 0.01
IGL01656:Or14j5 APN 17 38,162,029 (GRCm39) missense possibly damaging 0.60
IGL01674:Or14j5 APN 17 37,920,853 (GRCm39) missense probably damaging 0.99
IGL02262:Or14j5 APN 17 38,162,154 (GRCm39) missense probably damaging 1.00
IGL02445:Or14j5 APN 17 38,162,008 (GRCm39) missense probably damaging 0.97
R0559:Or14j5 UTSW 17 38,161,746 (GRCm39) nonsense probably null
R1164:Or14j5 UTSW 17 38,161,575 (GRCm39) missense probably damaging 0.99
R1828:Or14j5 UTSW 17 38,161,966 (GRCm39) missense probably benign 0.11
R1840:Or14j5 UTSW 17 38,161,639 (GRCm39) missense probably damaging 1.00
R1882:Or14j5 UTSW 17 38,161,839 (GRCm39) missense probably damaging 1.00
R2368:Or14j5 UTSW 17 38,161,509 (GRCm39) missense probably benign 0.00
R2377:Or14j5 UTSW 17 38,161,498 (GRCm39) missense probably damaging 1.00
R3832:Or14j5 UTSW 17 38,162,071 (GRCm39) missense probably benign 0.00
R6589:Or14j5 UTSW 17 38,161,727 (GRCm39) nonsense probably null
R7794:Or14j5 UTSW 17 38,161,678 (GRCm39) missense probably benign 0.10
R7853:Or14j5 UTSW 17 38,161,714 (GRCm39) missense probably damaging 1.00
R8009:Or14j5 UTSW 17 38,161,693 (GRCm39) missense probably damaging 1.00
R8501:Or14j5 UTSW 17 38,161,756 (GRCm39) missense probably damaging 1.00
R8874:Or14j5 UTSW 17 38,161,675 (GRCm39) missense probably damaging 1.00
R8902:Or14j5 UTSW 17 38,162,101 (GRCm39) missense probably benign 0.10
Posted On 2014-05-07