Incidental Mutation 'R6420:Or8b39'
ID 518154
Institutional Source Beutler Lab
Gene Symbol Or8b39
Ensembl Gene ENSMUSG00000096167
Gene Name olfactory receptor family 8 subfamily B member 39
Synonyms GA_x6K02T2PVTD-31764095-31765024, MOR162-5, Olfr887
MMRRC Submission 044562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6420 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 37996134-37997063 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37996890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 253 (S253T)
Ref Sequence ENSEMBL: ENSMUSP00000148361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074681] [ENSMUST00000212502] [ENSMUST00000213091]
AlphaFold Q9EQA6
Predicted Effect probably benign
Transcript: ENSMUST00000074681
AA Change: S253T

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000074248
Gene: ENSMUSG00000096167
AA Change: S253T

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.7e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 253 3.1e-5 PFAM
Pfam:7tm_1 41 288 8.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212502
AA Change: S253T

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000213091
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,566 (GRCm39) I117N probably damaging Het
Abca15 A G 7: 119,996,351 (GRCm39) K1426E possibly damaging Het
Arhgef17 A G 7: 100,579,269 (GRCm39) S560P probably damaging Het
Asb13 G A 13: 3,693,574 (GRCm39) V111I probably damaging Het
Dhx16 A G 17: 36,193,906 (GRCm39) E367G possibly damaging Het
Epc2 T C 2: 49,341,912 (GRCm39) V32A probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Hdlbp T C 1: 93,358,726 (GRCm39) E275G probably damaging Het
Kdm7a T C 6: 39,142,102 (GRCm39) D392G probably damaging Het
Lgmn T A 12: 102,389,978 (GRCm39) R4* probably null Het
Lrrk2 C T 15: 91,696,549 (GRCm39) R2446C probably benign Het
Map3k10 A G 7: 27,362,709 (GRCm39) F459S probably damaging Het
Mup1 C G 4: 60,457,758 (GRCm39) E31Q possibly damaging Het
Nckap1l G C 15: 103,399,893 (GRCm39) G1025A possibly damaging Het
Or4d10 T G 19: 12,051,324 (GRCm39) K224T probably benign Het
Or5b24 A C 19: 12,912,584 (GRCm39) T161P probably damaging Het
Or8b41 T G 9: 38,054,611 (GRCm39) L55R probably damaging Het
Or8k38 A T 2: 86,488,510 (GRCm39) C97* probably null Het
Pik3r5 G A 11: 68,366,250 (GRCm39) W42* probably null Het
Pkd1l2 C T 8: 117,740,638 (GRCm39) C2153Y probably damaging Het
Rad1 T C 15: 10,488,098 (GRCm39) V74A probably benign Het
Scara3 C T 14: 66,175,701 (GRCm39) G22D possibly damaging Het
Scn1a A G 2: 66,103,542 (GRCm39) I1906T probably damaging Het
Sema5b T A 16: 35,483,516 (GRCm39) D1051E probably benign Het
Slc16a12 T C 19: 34,650,097 (GRCm39) probably null Het
Slc25a23 T C 17: 57,359,780 (GRCm39) I324V probably damaging Het
Sord A T 2: 122,094,602 (GRCm39) K330M possibly damaging Het
Spag9 T C 11: 93,977,128 (GRCm39) V78A probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tnrc6a A G 7: 122,770,297 (GRCm39) T696A probably benign Het
Ttn A G 2: 76,542,619 (GRCm39) Y33456H possibly damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Urb2 C T 8: 124,773,938 (GRCm39) R1490W probably damaging Het
Zfp62 A T 11: 49,107,340 (GRCm39) N477I probably damaging Het
Zfp846 T C 9: 20,505,007 (GRCm39) L289P probably damaging Het
Zfp959 G A 17: 56,205,094 (GRCm39) G377D probably damaging Het
Zswim3 G A 2: 164,662,653 (GRCm39) V378M probably damaging Het
Other mutations in Or8b39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02506:Or8b39 APN 9 37,996,741 (GRCm39) missense probably damaging 1.00
R0639:Or8b39 UTSW 9 37,996,666 (GRCm39) missense probably damaging 1.00
R0671:Or8b39 UTSW 9 37,996,423 (GRCm39) missense possibly damaging 0.91
R1957:Or8b39 UTSW 9 37,996,419 (GRCm39) missense probably damaging 1.00
R1958:Or8b39 UTSW 9 37,996,419 (GRCm39) missense probably damaging 1.00
R2126:Or8b39 UTSW 9 37,996,572 (GRCm39) missense probably benign 0.02
R5329:Or8b39 UTSW 9 37,996,422 (GRCm39) missense probably benign 0.00
R5541:Or8b39 UTSW 9 37,996,419 (GRCm39) missense probably damaging 1.00
R5681:Or8b39 UTSW 9 37,996,927 (GRCm39) missense possibly damaging 0.90
R6042:Or8b39 UTSW 9 37,996,390 (GRCm39) missense probably damaging 0.99
R6417:Or8b39 UTSW 9 37,996,890 (GRCm39) missense probably benign 0.18
R9299:Or8b39 UTSW 9 37,996,785 (GRCm39) missense probably benign 0.38
R9399:Or8b39 UTSW 9 37,997,020 (GRCm39) missense probably benign 0.00
R9409:Or8b39 UTSW 9 37,996,584 (GRCm39) missense probably damaging 1.00
R9748:Or8b39 UTSW 9 37,996,353 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- CCTACATCAATGAGCTGGTGG -3'
(R):5'- TCTCCCTGATTGTAAACATCACATG -3'

Sequencing Primer
(F):5'- CCTACATCAATGAGCTGGTGGTTTTC -3'
(R):5'- AGATATTCTTCTTAGGCAAACATACC -3'
Posted On 2018-05-24