Incidental Mutation 'R4454:Or8b1b'
ID 329091
Institutional Source Beutler Lab
Gene Symbol Or8b1b
Ensembl Gene ENSMUSG00000094380
Gene Name olfactory receptor family 8 subfamily B member 1B
Synonyms Olfr904, MOR167-3, GA_x6K02T2PVTD-32156773-32157705
MMRRC Submission 041714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4454 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38375330-38378952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38375938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 200 (F200L)
Ref Sequence ENSEMBL: ENSMUSP00000150057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058153] [ENSMUST00000216724]
AlphaFold Q7TRC9
Predicted Effect probably benign
Transcript: ENSMUST00000058153
AA Change: F200L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: F200L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-51 PFAM
Pfam:7tm_1 41 291 1.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216724
AA Change: F200L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T A 2: 126,889,061 (GRCm39) F509I probably damaging Het
Asmt A T X: 169,106,456 (GRCm39) M19L probably benign Het
Atf6 C T 1: 170,621,608 (GRCm39) R471Q probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baiap3 T A 17: 25,468,510 (GRCm39) D250V probably damaging Het
C2cd4d T A 3: 94,271,054 (GRCm39) F107I probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cldn6 T C 17: 23,900,060 (GRCm39) probably null Het
Cpa5 A G 6: 30,626,323 (GRCm39) N228S possibly damaging Het
Cracdl T C 1: 37,663,834 (GRCm39) E163G probably damaging Het
Crocc T C 4: 140,747,716 (GRCm39) S1478G possibly damaging Het
Csmd1 A T 8: 15,995,011 (GRCm39) C2675S probably damaging Het
Cthrc1 C A 15: 38,940,408 (GRCm39) Q4K probably benign Het
Ddo A T 10: 40,523,543 (GRCm39) I178F probably damaging Het
Dmxl1 A G 18: 50,026,399 (GRCm39) T1836A probably benign Het
Dnah9 T G 11: 66,038,215 (GRCm39) Q107P probably damaging Het
Dusp26 A G 8: 31,584,172 (GRCm39) N93S probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Epha5 T C 5: 84,304,303 (GRCm39) I501V probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fgd5 C T 6: 91,966,167 (GRCm39) S642F probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gm12034 T A 11: 20,396,476 (GRCm39) noncoding transcript Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Mbd3 A T 10: 80,229,817 (GRCm39) L164H probably damaging Het
Med4 A G 14: 73,755,502 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav2 A T 7: 49,198,292 (GRCm39) probably null Het
Or4k1 T C 14: 50,377,953 (GRCm39) I48V probably benign Het
Pcdha11 G A 18: 37,140,426 (GRCm39) G685D probably benign Het
Pgc A G 17: 48,043,335 (GRCm39) I228V probably benign Het
Pramel25 A G 4: 143,519,394 (GRCm39) S52G probably benign Het
Rad51 C T 2: 118,962,049 (GRCm39) H199Y probably damaging Het
Robo2 A T 16: 74,149,407 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,413 (GRCm39) T861I probably damaging Het
Sh3tc2 A T 18: 62,140,844 (GRCm39) D1061V probably damaging Het
Shoc1 T C 4: 59,092,383 (GRCm39) D266G possibly damaging Het
Snapc3 A G 4: 83,336,996 (GRCm39) E119G probably damaging Het
Sspo G A 6: 48,464,159 (GRCm39) G3862D probably benign Het
Tbc1d16 G A 11: 119,048,699 (GRCm39) T318M possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Thsd1 T C 8: 22,733,594 (GRCm39) Y214H probably damaging Het
Tnfrsf13b T C 11: 61,032,264 (GRCm39) V98A probably benign Het
Topbp1 T C 9: 103,222,070 (GRCm39) Y1314H probably damaging Het
Ttn C A 2: 76,616,150 (GRCm39) V8271L possibly damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utrn G T 10: 12,603,584 (GRCm39) Q599K possibly damaging Het
Zfp995 G A 17: 22,098,932 (GRCm39) T434I probably benign Het
Zfy1 G T Y: 725,518 (GRCm39) T749K possibly damaging Het
Other mutations in Or8b1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Or8b1b APN 9 38,376,030 (GRCm39) missense probably benign
IGL01966:Or8b1b APN 9 38,376,225 (GRCm39) missense possibly damaging 0.82
IGL02328:Or8b1b APN 9 38,375,972 (GRCm39) missense probably benign
IGL03394:Or8b1b APN 9 38,375,517 (GRCm39) missense probably damaging 1.00
R0085:Or8b1b UTSW 9 38,375,958 (GRCm39) missense probably benign 0.37
R0125:Or8b1b UTSW 9 38,375,757 (GRCm39) nonsense probably null
R1506:Or8b1b UTSW 9 38,375,439 (GRCm39) missense probably benign 0.02
R1545:Or8b1b UTSW 9 38,375,815 (GRCm39) missense probably benign 0.37
R1610:Or8b1b UTSW 9 38,375,927 (GRCm39) missense probably damaging 0.97
R2008:Or8b1b UTSW 9 38,375,537 (GRCm39) missense probably damaging 1.00
R2424:Or8b1b UTSW 9 38,376,128 (GRCm39) missense probably damaging 0.99
R3824:Or8b1b UTSW 9 38,375,822 (GRCm39) missense probably benign 0.13
R3964:Or8b1b UTSW 9 38,375,979 (GRCm39) missense probably benign 0.25
R4093:Or8b1b UTSW 9 38,375,379 (GRCm39) missense probably null 1.00
R5650:Or8b1b UTSW 9 38,376,023 (GRCm39) nonsense probably null
R6921:Or8b1b UTSW 9 38,375,543 (GRCm39) missense probably benign 0.01
R7406:Or8b1b UTSW 9 38,375,439 (GRCm39) missense possibly damaging 0.88
R7597:Or8b1b UTSW 9 38,375,802 (GRCm39) missense probably benign 0.01
R7959:Or8b1b UTSW 9 38,376,211 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTGGCCATCTGTAATCCAC -3'
(R):5'- TAAATGCACCTGATCCAAAGAAGAG -3'

Sequencing Primer
(F):5'- GTACACGGTTGCCATGTCC -3'
(R):5'- GACAAACTGCAATTATATGGGAACTG -3'
Posted On 2015-07-21