Incidental Mutation 'R5854:Or8b50'
ID 454826
Institutional Source Beutler Lab
Gene Symbol Or8b50
Ensembl Gene ENSMUSG00000047050
Gene Name olfactory receptor family 8 subfamily B member 50
Synonyms Olfr914, MOR165-7, GA_x6K02T2PVTD-32308823-32309773
MMRRC Submission 043228-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5854 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38517763-38518713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38517959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 66 (L66S)
Ref Sequence ENSEMBL: ENSMUSP00000150241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057755] [ENSMUST00000217057]
AlphaFold E9PW59
Predicted Effect probably damaging
Transcript: ENSMUST00000057755
AA Change: L66S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053405
Gene: ENSMUSG00000047050
AA Change: L66S

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 1.1e-48 PFAM
Pfam:7tm_1 41 290 5.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217057
AA Change: L66S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Atg4c G A 4: 99,116,796 (GRCm39) V313I probably benign Het
Ccdc18 A G 5: 108,354,594 (GRCm39) E1111G possibly damaging Het
Chuk T C 19: 44,070,396 (GRCm39) H573R probably benign Het
Cst13 A G 2: 148,670,094 (GRCm39) N88S probably benign Het
Dalrd3 T C 9: 108,447,276 (GRCm39) probably null Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dsp A G 13: 38,351,477 (GRCm39) probably null Het
Fbxo41 A G 6: 85,452,076 (GRCm39) L810P probably damaging Het
Fcrlb T C 1: 170,735,530 (GRCm39) Y248C probably damaging Het
Gmcl1 A G 6: 86,691,241 (GRCm39) silent Het
Gtf3c3 C A 1: 54,458,596 (GRCm39) A442S probably benign Het
Hdac4 T C 1: 91,887,143 (GRCm39) S799G probably damaging Het
Hnrnpa2b1 C G 6: 51,443,589 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,495,508 (GRCm39) E177G probably damaging Het
Knl1 A G 2: 118,900,884 (GRCm39) I862V probably benign Het
Lonp2 T A 8: 87,399,699 (GRCm39) probably null Het
Map3k19 G T 1: 127,758,092 (GRCm39) P363T probably damaging Het
Morn3 A G 5: 123,179,178 (GRCm39) Y91H probably damaging Het
Myom2 A G 8: 15,158,478 (GRCm39) D810G probably benign Het
Nans A G 4: 46,500,180 (GRCm39) Y188C probably damaging Het
Ndufs1 A T 1: 63,186,548 (GRCm39) D1E probably benign Het
Nelfb T C 2: 25,100,005 (GRCm39) N204S probably damaging Het
Noxo1 T C 17: 24,917,516 (GRCm39) S31P probably damaging Het
Or13a20 A G 7: 140,232,491 (GRCm39) M200V probably benign Het
Or5af1 T A 11: 58,722,382 (GRCm39) M134K probably damaging Het
Pkd1l2 T G 8: 117,792,485 (GRCm39) T436P possibly damaging Het
Pkhd1l1 A G 15: 44,445,186 (GRCm39) D3686G probably damaging Het
Ppp2r5b A G 19: 6,280,974 (GRCm39) L285S probably damaging Het
Pzp A T 6: 128,483,832 (GRCm39) V522D probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rpe65 A G 3: 159,321,313 (GRCm39) D375G probably benign Het
Sacs C T 14: 61,448,996 (GRCm39) L3681F probably damaging Het
Sft2d1 C T 17: 8,539,485 (GRCm39) T96I probably damaging Het
Slc12a7 A G 13: 73,942,059 (GRCm39) N312D probably benign Het
Spaca6 A T 17: 18,051,509 (GRCm39) K82* probably null Het
Stk32c A G 7: 138,768,195 (GRCm39) probably benign Het
Tet2 T A 3: 133,193,646 (GRCm39) N263Y probably damaging Het
Uxs1 T C 1: 43,819,233 (GRCm39) N190S probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Or8b50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Or8b50 APN 9 38,517,850 (GRCm39) missense probably null 0.00
IGL01758:Or8b50 APN 9 38,518,589 (GRCm39) missense probably damaging 0.99
IGL02003:Or8b50 APN 9 38,518,136 (GRCm39) missense probably damaging 1.00
IGL02203:Or8b50 APN 9 38,518,719 (GRCm39) utr 3 prime probably benign
IGL02233:Or8b50 APN 9 38,518,538 (GRCm39) missense probably damaging 1.00
IGL02408:Or8b50 APN 9 38,518,417 (GRCm39) missense possibly damaging 0.62
IGL02882:Or8b50 APN 9 38,518,234 (GRCm39) missense probably benign 0.04
IGL03081:Or8b50 APN 9 38,518,166 (GRCm39) missense probably benign 0.01
IGL03088:Or8b50 APN 9 38,518,597 (GRCm39) missense probably damaging 0.99
IGL03177:Or8b50 APN 9 38,517,867 (GRCm39) nonsense probably null
IGL03219:Or8b50 APN 9 38,518,247 (GRCm39) missense probably benign 0.28
P0023:Or8b50 UTSW 9 38,517,941 (GRCm39) missense probably damaging 1.00
R0630:Or8b50 UTSW 9 38,518,192 (GRCm39) missense probably benign 0.01
R0948:Or8b50 UTSW 9 38,517,787 (GRCm39) missense possibly damaging 0.65
R1451:Or8b50 UTSW 9 38,518,234 (GRCm39) missense probably benign 0.04
R1681:Or8b50 UTSW 9 38,518,244 (GRCm39) missense probably damaging 0.99
R2402:Or8b50 UTSW 9 38,518,397 (GRCm39) missense probably benign 0.02
R6857:Or8b50 UTSW 9 38,518,307 (GRCm39) missense probably benign 0.07
R7452:Or8b50 UTSW 9 38,518,384 (GRCm39) missense probably benign 0.34
R7838:Or8b50 UTSW 9 38,517,708 (GRCm39) start gained probably benign
R8039:Or8b50 UTSW 9 38,518,685 (GRCm39) missense probably benign
R8489:Or8b50 UTSW 9 38,518,232 (GRCm39) missense probably benign 0.07
R8768:Or8b50 UTSW 9 38,518,441 (GRCm39) missense probably benign 0.01
R9373:Or8b50 UTSW 9 38,518,142 (GRCm39) missense possibly damaging 0.91
R9380:Or8b50 UTSW 9 38,518,415 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTTGAAGGAAGAATGGCTCTG -3'
(R):5'- TGGATTACAAATGGCCACATAGC -3'

Sequencing Primer
(F):5'- AATGGCTCTGGCAAATGGCTC -3'
(R):5'- TAGCGATCATAGGCCATTGC -3'
Posted On 2017-02-10