Incidental Mutation 'R1830:Or8j3b'
ID 207202
Institutional Source Beutler Lab
Gene Symbol Or8j3b
Ensembl Gene ENSMUSG00000075187
Gene Name olfactory receptor family 8 subfamily J member 3B
Synonyms MOR185-11, GA_x6K02T2Q125-47844843-47843896, Olfr1057
MMRRC Submission 039857-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1830 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86205487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 90 (K90E)
Ref Sequence ENSEMBL: ENSMUSP00000150623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099892] [ENSMUST00000217435]
AlphaFold Q7TR75
Predicted Effect possibly damaging
Transcript: ENSMUST00000099892
AA Change: K90E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: K90E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8.3e-47 PFAM
Pfam:7tm_1 41 290 1.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217435
AA Change: K90E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,350 (GRCm39) S738P probably benign Het
Abi3bp C A 16: 56,408,348 (GRCm39) P261Q probably damaging Het
Adam19 A G 11: 46,018,105 (GRCm39) N389S probably damaging Het
Adgrv1 A T 13: 81,637,196 (GRCm39) V3415D possibly damaging Het
Ankrd33 A T 15: 101,017,432 (GRCm39) I282F probably damaging Het
Arhgap39 C T 15: 76,619,383 (GRCm39) V734M probably damaging Het
Arsg T C 11: 109,454,100 (GRCm39) probably null Het
Atp8b4 C T 2: 126,245,301 (GRCm39) G283R probably benign Het
B3galnt2 T G 13: 14,166,119 (GRCm39) L338* probably null Het
Cdc14a A T 3: 116,216,296 (GRCm39) Y1* probably null Het
Ceacam16 T C 7: 19,592,803 (GRCm39) E35G possibly damaging Het
Cfap46 T A 7: 139,220,323 (GRCm39) D1244V possibly damaging Het
Chordc1 T C 9: 18,223,274 (GRCm39) Y245H probably damaging Het
Col6a6 C A 9: 105,579,469 (GRCm39) V1919F probably damaging Het
Colgalt1 T C 8: 72,075,781 (GRCm39) V476A probably damaging Het
Cped1 T C 6: 22,237,727 (GRCm39) C948R probably damaging Het
Cyfip2 T C 11: 46,089,846 (GRCm39) D1189G probably damaging Het
Cyp27b1 T C 10: 126,884,952 (GRCm39) Y72H possibly damaging Het
Dagla A G 19: 10,248,378 (GRCm39) M94T probably benign Het
Dip2a A G 10: 76,153,797 (GRCm39) S178P probably damaging Het
Dlec1 T C 9: 118,967,858 (GRCm39) V1220A probably benign Het
Dpysl2 T C 14: 67,105,840 (GRCm39) probably benign Het
E2f6 T C 12: 16,868,884 (GRCm39) V69A probably benign Het
Fat3 T C 9: 15,826,636 (GRCm39) T4439A probably benign Het
Fn1 T C 1: 71,663,418 (GRCm39) I1023M probably damaging Het
Gabrr2 G A 4: 33,077,481 (GRCm39) V83M probably damaging Het
Gfral T C 9: 76,100,485 (GRCm39) N318D probably benign Het
Gm5611 A T 9: 16,942,073 (GRCm39) noncoding transcript Het
Gpat3 A T 5: 101,041,046 (GRCm39) M369L probably benign Het
Grik5 T C 7: 24,745,726 (GRCm39) D449G possibly damaging Het
Gucy2g T A 19: 55,211,362 (GRCm39) T623S possibly damaging Het
H2-T22 T C 17: 36,352,434 (GRCm39) T164A probably benign Het
Herc1 T A 9: 66,404,881 (GRCm39) C4484S possibly damaging Het
Hira T C 16: 18,766,164 (GRCm39) S659P probably damaging Het
Hoxa7 T C 6: 52,194,307 (GRCm39) T27A possibly damaging Het
Hoxd1 T C 2: 74,593,866 (GRCm39) S141P probably damaging Het
Kank1 C A 19: 25,388,396 (GRCm39) Q690K probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kifbp T C 10: 62,395,106 (GRCm39) Y512C probably damaging Het
Lepr A C 4: 101,592,874 (GRCm39) Y163S probably damaging Het
Leprotl1 T C 8: 34,607,922 (GRCm39) I29V probably benign Het
Lrriq1 T G 10: 102,997,620 (GRCm39) T1332P probably benign Het
Mrps15 A G 4: 125,949,200 (GRCm39) K223E probably damaging Het
Mrps7 T A 11: 115,497,811 (GRCm39) N225K probably benign Het
Nav3 T A 10: 109,659,184 (GRCm39) D811V probably damaging Het
Ndst3 T A 3: 123,342,587 (GRCm39) R741S probably damaging Het
Nos3 T C 5: 24,575,131 (GRCm39) Y356H probably damaging Het
Nxpe3 A G 16: 55,686,444 (GRCm39) V188A probably damaging Het
Or13n4 T C 7: 106,423,317 (GRCm39) R139G probably benign Het
Or5p50 T A 7: 107,422,578 (GRCm39) I33F probably benign Het
Pdia4 A T 6: 47,773,695 (GRCm39) C551* probably null Het
Pex13 A G 11: 23,605,513 (GRCm39) F239S probably damaging Het
Pigq A G 17: 26,153,980 (GRCm39) M273T probably benign Het
Plppr2 C T 9: 21,859,047 (GRCm39) P388L probably damaging Het
Polr3b C T 10: 84,528,786 (GRCm39) Q737* probably null Het
Ppfibp1 T C 6: 146,923,757 (GRCm39) probably null Het
Ppfibp2 C A 7: 107,236,504 (GRCm39) D17E probably damaging Het
Pramel34 A T 5: 93,785,545 (GRCm39) I245K probably benign Het
Prr35 T C 17: 26,165,691 (GRCm39) D532G possibly damaging Het
Ptpn13 A G 5: 103,691,325 (GRCm39) D1064G probably benign Het
Qtrt2 A T 16: 43,692,018 (GRCm39) S168T probably damaging Het
Rbp3 T C 14: 33,676,601 (GRCm39) V183A probably benign Het
Shprh T C 10: 11,062,655 (GRCm39) probably null Het
Slc39a10 T C 1: 46,875,230 (GRCm39) H24R probably damaging Het
Slc7a13 A T 4: 19,819,046 (GRCm39) H82L probably benign Het
Sptbn2 A G 19: 4,782,569 (GRCm39) I502V probably benign Het
Syne2 C T 12: 76,156,636 (GRCm39) R6811C probably damaging Het
Syt12 A G 19: 4,506,911 (GRCm39) V78A probably benign Het
Tbck T A 3: 132,543,772 (GRCm39) D874E probably benign Het
Tesc A T 5: 118,184,394 (GRCm39) I25L probably damaging Het
Thoc5 T G 11: 4,864,608 (GRCm39) D351E probably benign Het
Tor1aip1 A T 1: 155,883,308 (GRCm39) M180K probably damaging Het
Trps1 T C 15: 50,524,532 (GRCm39) S842G probably damaging Het
Unc79 A T 12: 103,100,737 (GRCm39) T1858S probably damaging Het
Vmn1r193 T C 13: 22,403,561 (GRCm39) T144A probably benign Het
Vwa8 T C 14: 79,318,576 (GRCm39) F1046S probably benign Het
Wdr26 A T 1: 181,019,340 (GRCm39) W346R probably damaging Het
Zfp740 T A 15: 102,116,336 (GRCm39) V22E probably damaging Het
Zw10 C A 9: 48,981,041 (GRCm39) S480R probably damaging Het
Other mutations in Or8j3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02403:Or8j3b APN 2 86,204,867 (GRCm39) missense probably benign 0.05
IGL03267:Or8j3b APN 2 86,204,978 (GRCm39) nonsense probably null
R0133:Or8j3b UTSW 2 86,205,159 (GRCm39) missense possibly damaging 0.95
R0993:Or8j3b UTSW 2 86,205,222 (GRCm39) missense probably damaging 0.99
R1386:Or8j3b UTSW 2 86,205,265 (GRCm39) missense probably damaging 1.00
R2398:Or8j3b UTSW 2 86,205,183 (GRCm39) missense probably damaging 0.98
R3753:Or8j3b UTSW 2 86,205,259 (GRCm39) missense possibly damaging 0.53
R4394:Or8j3b UTSW 2 86,205,523 (GRCm39) missense possibly damaging 0.77
R4605:Or8j3b UTSW 2 86,205,141 (GRCm39) missense probably benign 0.01
R4835:Or8j3b UTSW 2 86,204,853 (GRCm39) missense possibly damaging 0.93
R5029:Or8j3b UTSW 2 86,205,234 (GRCm39) missense probably damaging 1.00
R5311:Or8j3b UTSW 2 86,205,094 (GRCm39) missense possibly damaging 0.91
R7487:Or8j3b UTSW 2 86,205,475 (GRCm39) missense probably damaging 1.00
R7667:Or8j3b UTSW 2 86,205,525 (GRCm39) missense probably damaging 0.99
R7770:Or8j3b UTSW 2 86,205,604 (GRCm39) missense possibly damaging 0.53
R7888:Or8j3b UTSW 2 86,205,270 (GRCm39) missense probably benign 0.02
R8678:Or8j3b UTSW 2 86,205,069 (GRCm39) missense probably benign 0.01
R9614:Or8j3b UTSW 2 86,205,012 (GRCm39) missense probably damaging 0.99
Z1176:Or8j3b UTSW 2 86,205,459 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CACAACAATGGCTGTGACAAAG -3'
(R):5'- GAACTGCAGGTTCCACTTTTC -3'

Sequencing Primer
(F):5'- CAATGGCTGTGACAAAGCTAAAG -3'
(R):5'- AACTGCAGGTTCCACTTTTCTTTCTC -3'
Posted On 2014-06-23