Incidental Mutation 'R8501:Or14j5'
ID 655344
Institutional Source Beutler Lab
Gene Symbol Or14j5
Ensembl Gene ENSMUSG00000109212
Gene Name olfactory receptor family 14 subfamily J member 5
Synonyms Olfr126, GA_x6K02T2PSCP-2307164-2308123, MOR218-1
MMRRC Submission 067838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R8501 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 38161485-38162444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38161756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 91 (Y91C)
Ref Sequence ENSEMBL: ENSMUSP00000149896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174139] [ENSMUST00000213844] [ENSMUST00000217487]
AlphaFold Q8VGF0
Predicted Effect probably damaging
Transcript: ENSMUST00000174139
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: Y91C

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.7e-46 PFAM
Pfam:7TM_GPCR_Srx 32 307 3.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 35 305 4.2e-6 PFAM
Pfam:7tm_1 41 290 2.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213844
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217487
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,844,724 (GRCm39) V98M probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Atg2a T C 19: 6,304,420 (GRCm39) S1146P probably damaging Het
Atg3 C A 16: 45,003,294 (GRCm39) D207E probably damaging Het
Atp8b3 A G 10: 80,355,980 (GRCm39) V1244A probably benign Het
Cacna1i T C 15: 80,266,247 (GRCm39) probably null Het
Ccdc171 G T 4: 83,581,895 (GRCm39) E675* probably null Het
Cep68 A T 11: 20,189,132 (GRCm39) S627T unknown Het
Chrnd T C 1: 87,120,338 (GRCm39) W165R probably damaging Het
Col6a2 G T 10: 76,439,391 (GRCm39) A791D probably damaging Het
Dlg2 C A 7: 92,024,930 (GRCm39) S598R probably damaging Het
Elfn2 G T 15: 78,558,500 (GRCm39) Q16K probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Grm8 A T 6: 27,618,540 (GRCm39) M434K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igf2 G C 7: 142,207,779 (GRCm39) P106R probably damaging Het
Klf7 T C 1: 64,118,322 (GRCm39) S92G probably benign Het
Mme T A 3: 63,234,156 (GRCm39) M73K probably damaging Het
Musk G C 4: 58,367,502 (GRCm39) K588N probably damaging Het
Naa30 C A 14: 49,410,353 (GRCm39) H94N possibly damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nfya A G 17: 48,706,017 (GRCm39) L52P unknown Het
Or1j17 A G 2: 36,578,809 (GRCm39) N265S probably benign Het
Or51b6 T A 7: 103,555,818 (GRCm39) H54Q Het
Otogl A T 10: 107,626,421 (GRCm39) M1481K probably benign Het
P4ha3 A G 7: 99,962,562 (GRCm39) D440G probably damaging Het
Pcdhb13 A T 18: 37,577,493 (GRCm39) T624S probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Piezo2 A G 18: 63,178,611 (GRCm39) Y1769H probably damaging Het
Plekha6 T A 1: 133,215,575 (GRCm39) V913E probably benign Het
Rapgefl1 A G 11: 98,733,053 (GRCm39) E211G possibly damaging Het
Rcc2 T C 4: 140,443,237 (GRCm39) L305P probably damaging Het
Rgs3 G T 4: 62,521,193 (GRCm39) V47F possibly damaging Het
Scly A G 1: 91,246,798 (GRCm39) S370G probably damaging Het
Setmar T A 6: 108,052,822 (GRCm39) D105E probably benign Het
Slc9a9 A G 9: 94,737,792 (GRCm39) Y233C probably damaging Het
Sp140 A T 1: 85,569,461 (GRCm39) N357I probably damaging Het
Trim30c G C 7: 104,036,677 (GRCm39) T227R probably benign Het
Unc79 G A 12: 103,058,897 (GRCm39) V1014I probably damaging Het
Vmn1r151 A T 7: 22,199,034 (GRCm39) F24I probably damaging Het
Vmn2r78 T C 7: 86,570,094 (GRCm39) V204A probably damaging Het
Vps13a T C 19: 16,659,484 (GRCm39) D1681G probably benign Het
Vwa2 T C 19: 56,897,414 (GRCm39) V573A probably benign Het
Wfdc2 A G 2: 164,405,279 (GRCm39) D44G probably damaging Het
Zfp40 T A 17: 23,397,272 (GRCm39) N75I probably damaging 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
IGL01903:Or14j5 APN 17 37,920,758 (GRCm39) missense possibly damaging 0.64
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
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
Predicted Primers PCR Primer
(F):5'- CTCTGACAACCATGAATTGCAG -3'
(R):5'- TCCACTTAGCCACACAGCTG -3'

Sequencing Primer
(F):5'- CCATGAATTGCAGATCTTACAGGC -3'
(R):5'- TGCCACAGCCCAAGTGC -3'
Posted On 2020-10-20