Incidental Mutation 'R1610:Or8b1b'
ID 176740
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 039647-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38375330-38378952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38375927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 197 (L197F)
Ref Sequence ENSEMBL: ENSMUSP00000150057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058153] [ENSMUST00000216724]
AlphaFold Q7TRC9
Predicted Effect probably damaging
Transcript: ENSMUST00000058153
AA Change: L197F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: L197F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-51 PFAM
Pfam:7tm_1 41 291 1.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216724
AA Change: L197F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign 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
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
R4454:Or8b1b UTSW 9 38,375,938 (GRCm39) missense probably benign 0.03
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'- TTGTACACGGTTGCCATGTCCC -3'
(R):5'- GGCAGGTACACGTTGTCTCCTTTC -3'

Sequencing Primer
(F):5'- GGTTGCCATGTCCCCTAAATTG -3'
(R):5'- ACAGAAGAGGTTTTCCCTTGATCC -3'
Posted On 2014-04-24