Incidental Mutation 'R7584:Or5j1'
ID 586945
Institutional Source Beutler Lab
Gene Symbol Or5j1
Ensembl Gene ENSMUSG00000075164
Gene Name olfactory receptor family 5 subfamily J member 1
Synonyms GA_x6K02T2Q125-48541463-48540525, Olfr1106, MOR172-8_p, MOR172-6
MMRRC Submission 045667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R7584 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86878640-86879578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86879478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 34 (I34N)
Ref Sequence ENSEMBL: ENSMUSP00000149079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099867] [ENSMUST00000213781] [ENSMUST00000217650]
AlphaFold Q7TR57
Predicted Effect probably benign
Transcript: ENSMUST00000099867
AA Change: I34N

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097452
Gene: ENSMUSG00000075164
AA Change: I34N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-53 PFAM
Pfam:7tm_1 41 290 1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213781
AA Change: I34N

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217650
AA Change: I34N

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,626,304 (GRCm39) probably null Het
Actrt3 T C 3: 30,652,356 (GRCm39) K246R probably benign Het
Adam23 T A 1: 63,584,621 (GRCm39) V343D probably damaging Het
Ak2 T C 4: 128,893,005 (GRCm39) S55P probably damaging Het
Ank2 G A 3: 126,739,777 (GRCm39) Q2036* probably null Het
Ano10 A G 9: 122,104,597 (GRCm39) I40T probably benign Het
Aoc2 T A 11: 101,217,005 (GRCm39) C363S possibly damaging Het
Aplp2 A T 9: 31,069,077 (GRCm39) V584E possibly damaging Het
Arhgap32 A T 9: 32,168,263 (GRCm39) T749S probably benign Het
Atm A T 9: 53,424,427 (GRCm39) F625I probably damaging Het
Atr T C 9: 95,824,766 (GRCm39) L2387P probably damaging Het
Barhl1 C T 2: 28,799,803 (GRCm39) G274D probably damaging Het
Bcl2a1a A T 9: 88,839,345 (GRCm39) D81V probably damaging Het
Ccdc63 T G 5: 122,251,267 (GRCm39) D381A possibly damaging Het
Col12a1 A G 9: 79,610,578 (GRCm39) probably null Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cyp4b1 T A 4: 115,485,884 (GRCm39) D351V probably damaging Het
D130043K22Rik A G 13: 25,056,353 (GRCm39) S562G probably damaging Het
Dgkb T A 12: 38,189,391 (GRCm39) probably null Het
Dmbt1 C T 7: 130,690,481 (GRCm39) Q905* probably null Het
Dnajc21 A C 15: 10,462,381 (GRCm39) Y81* probably null Het
Dnali1 T C 4: 124,959,331 (GRCm39) T21A probably benign Het
Dpp8 A T 9: 64,986,064 (GRCm39) L851F probably damaging Het
Dpt T C 1: 164,646,477 (GRCm39) Y149H probably benign Het
Ep300 T C 15: 81,512,627 (GRCm39) V983A unknown Het
Faf1 C T 4: 109,783,154 (GRCm39) R549C probably damaging Het
Gcm1 A G 9: 77,971,749 (GRCm39) N230S possibly damaging Het
Gm10803 T A 2: 93,394,513 (GRCm39) I95N probably damaging Het
Hectd4 T A 5: 121,456,798 (GRCm39) I721N possibly damaging Het
Hsp90ab1 T C 17: 45,881,197 (GRCm39) H315R probably damaging Het
Igkv10-95 T A 6: 68,657,740 (GRCm39) S85R possibly damaging Het
Katnip G T 7: 125,469,838 (GRCm39) V1436L probably damaging Het
Kcnq5 T C 1: 21,472,545 (GRCm39) T901A probably benign Het
Kremen1 C T 11: 5,144,964 (GRCm39) V471M possibly damaging Het
Lama2 C A 10: 26,980,257 (GRCm39) D1853Y possibly damaging Het
Lrif1 A G 3: 106,639,217 (GRCm39) T76A probably benign Het
Lrrtm2 T A 18: 35,345,818 (GRCm39) I495F possibly damaging Het
Ltbr G T 6: 125,284,204 (GRCm39) Q413K probably benign Het
Ms4a20 A G 19: 11,087,725 (GRCm39) F69L possibly damaging Het
Myrfl T A 10: 116,664,902 (GRCm39) Y376F probably damaging Het
Nup50l A C 6: 96,142,373 (GRCm39) L224V probably benign Het
Nup98 G T 7: 101,825,596 (GRCm39) N414K probably benign Het
Nynrin A G 14: 56,109,041 (GRCm39) T1383A probably damaging Het
Or4c15 G A 2: 88,760,149 (GRCm39) P170L probably damaging Het
Or6c208 T A 10: 129,223,901 (GRCm39) I133N probably damaging Het
Or7g27 C A 9: 19,250,569 (GRCm39) T271K possibly damaging Het
Or8b1d G T 9: 38,558,191 (GRCm39) P210T possibly damaging Het
Pcdhb5 T A 18: 37,455,425 (GRCm39) S602T possibly damaging Het
Sall3 A G 18: 81,017,745 (GRCm39) F61S probably benign Het
Scube1 G T 15: 83,606,088 (GRCm39) C61* probably null Het
Sec31b T C 19: 44,519,995 (GRCm39) probably null Het
Sec31b T C 19: 44,531,762 (GRCm39) D49G probably damaging Het
Skic2 A G 17: 35,060,651 (GRCm39) I822T possibly damaging Het
Slc19a3 C T 1: 83,000,469 (GRCm39) V183M possibly damaging Het
Slc41a2 T C 10: 83,152,653 (GRCm39) probably benign Het
Sphk2 C A 7: 45,361,931 (GRCm39) V169L probably damaging Het
Synpo C A 18: 60,729,349 (GRCm39) R951L probably damaging Het
Tbc1d9b G A 11: 50,061,543 (GRCm39) C1017Y probably damaging Het
Tmtc4 C A 14: 123,215,563 (GRCm39) V28F probably benign Het
Tprkb A G 6: 85,905,809 (GRCm39) I165V probably benign Het
Ttc23l T A 15: 10,533,794 (GRCm39) I250F probably damaging Het
Tut4 T C 4: 108,336,543 (GRCm39) V89A probably benign Het
Ubr3 G A 2: 69,821,847 (GRCm39) V1370I probably damaging Het
Ush2a A G 1: 188,460,306 (GRCm39) probably null Het
Usp9y T C Y: 1,384,451 (GRCm39) Y689C probably damaging Het
Vmn1r56 A T 7: 5,198,895 (GRCm39) Y241N probably damaging Het
Vmn2r6 T C 3: 64,472,683 (GRCm39) T13A probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign Het
Vps9d1 A G 8: 123,977,456 (GRCm39) F131S probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wfdc16 A T 2: 164,480,547 (GRCm39) probably null Het
Zbtb41 T A 1: 139,351,795 (GRCm39) Y303N probably benign Het
Zbtb5 T C 4: 44,993,678 (GRCm39) T569A probably benign Het
Zfp111 A G 7: 23,898,025 (GRCm39) S530P possibly damaging Het
Other mutations in Or5j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Or5j1 APN 2 86,878,632 (GRCm39) utr 3 prime probably benign
IGL02326:Or5j1 APN 2 86,879,355 (GRCm39) missense possibly damaging 0.82
IGL03087:Or5j1 APN 2 86,879,356 (GRCm39) missense possibly damaging 0.90
R0040:Or5j1 UTSW 2 86,879,548 (GRCm39) missense probably damaging 1.00
R0256:Or5j1 UTSW 2 86,879,400 (GRCm39) missense probably damaging 1.00
R0487:Or5j1 UTSW 2 86,878,837 (GRCm39) missense probably damaging 0.96
R0730:Or5j1 UTSW 2 86,879,492 (GRCm39) missense probably benign 0.00
R1978:Or5j1 UTSW 2 86,879,179 (GRCm39) missense possibly damaging 0.83
R5335:Or5j1 UTSW 2 86,879,509 (GRCm39) missense probably damaging 1.00
R6611:Or5j1 UTSW 2 86,879,577 (GRCm39) start codon destroyed probably null 1.00
R6681:Or5j1 UTSW 2 86,878,942 (GRCm39) missense probably benign 0.22
R7322:Or5j1 UTSW 2 86,878,823 (GRCm39) nonsense probably null
R7731:Or5j1 UTSW 2 86,879,578 (GRCm39) start codon destroyed probably null 0.99
R8011:Or5j1 UTSW 2 86,879,190 (GRCm39) missense probably damaging 1.00
R8959:Or5j1 UTSW 2 86,879,551 (GRCm39) missense possibly damaging 0.94
R9102:Or5j1 UTSW 2 86,879,171 (GRCm39) missense possibly damaging 0.71
Z1088:Or5j1 UTSW 2 86,878,777 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTCTCTCTTTCAACAAAGAAGTTC -3'
(R):5'- TTCATGGGGAGGTGCCATAAG -3'

Sequencing Primer
(F):5'- TTCAGTAGCAATGTGGGTGCAAATAC -3'
(R):5'- TGGGGAGGTGCCATAAGTATTATAC -3'
Posted On 2019-10-24