Incidental Mutation 'R7568:Or8b43'
ID 585585
Institutional Source Beutler Lab
Gene Symbol Or8b43
Ensembl Gene ENSMUSG00000049334
Gene Name olfactory receptor family 8 subfamily B member 43
Synonyms GA_x6K02T2PVTD-32141623-32142552, MOR169-1, Olfr902
MMRRC Submission 045630-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 38360088-38361143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38360942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 258 (Y258C)
Ref Sequence ENSEMBL: ENSMUSP00000151061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050733] [ENSMUST00000213105]
AlphaFold E9Q6Z7
Predicted Effect probably damaging
Transcript: ENSMUST00000050733
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055975
Gene: ENSMUSG00000049334
AA Change: Y258C

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.5e-48 PFAM
Pfam:7tm_1 41 289 1.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213105
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,391,956 (GRCm39) V97E possibly damaging Het
Actl7a A T 4: 56,744,498 (GRCm39) T342S probably damaging Het
Alcam A G 16: 52,088,749 (GRCm39) S554P probably damaging Het
Ano3 T C 2: 110,780,638 (GRCm39) probably benign Het
Atad2b T A 12: 5,060,390 (GRCm39) probably null Het
Baz2a T C 10: 127,961,139 (GRCm39) S1621P possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACT GGTTCTGTGGTCACTAGTTCTGTGGTCACT 3: 95,795,484 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTGGTCACTGGTTCTGTG GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG 3: 95,795,463 (GRCm39) probably benign Het
Best1 T A 19: 9,966,639 (GRCm39) probably null Het
Catip G T 1: 74,408,089 (GRCm39) E474* probably null Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crebbp G A 16: 3,944,353 (GRCm39) R600W probably benign Het
Cyfip1 A G 7: 55,521,997 (GRCm39) probably null Het
Ddr1 A G 17: 35,995,174 (GRCm39) S675P probably damaging Het
Dhtkd1 A T 2: 5,926,898 (GRCm39) probably null Het
F2rl1 G A 13: 95,650,522 (GRCm39) A120V probably damaging Het
Fam136a A G 6: 86,342,784 (GRCm39) N24D probably benign Het
Fbxw10 C A 11: 62,765,994 (GRCm39) Q755K probably benign Het
Fbxw16 C A 9: 109,268,657 (GRCm39) Q244H possibly damaging Het
Gabrg2 T C 11: 41,807,119 (GRCm39) K373E probably benign Het
Herc3 G A 6: 58,820,795 (GRCm39) V60I probably benign Het
Igkv19-93 T A 6: 68,713,477 (GRCm39) K51* probably null Het
Krt23 T A 11: 99,383,626 (GRCm39) K89* probably null Het
Mavs A G 2: 131,087,395 (GRCm39) T298A probably benign Het
Mlec T C 5: 115,288,181 (GRCm39) Y198C probably damaging Het
Ncam2 C A 16: 81,386,689 (GRCm39) N689K probably benign Het
Nfkbia A G 12: 55,538,546 (GRCm39) I82T probably damaging Het
Or12d14-ps1 A G 17: 37,673,496 (GRCm39) I163V probably benign Het
Or12j2 A G 7: 139,915,895 (GRCm39) N40S probably damaging Het
Or7a35 A T 10: 78,853,341 (GRCm39) I62F probably benign Het
Pom121l2 A T 13: 22,166,796 (GRCm39) I356F probably benign Het
Ppip5k1 A T 2: 121,168,096 (GRCm39) L719Q probably damaging Het
Satb1 A T 17: 52,089,752 (GRCm39) V365D possibly damaging Het
Scrn2 T C 11: 96,921,712 (GRCm39) Y61H probably damaging Het
Siglec1 C T 2: 130,914,602 (GRCm39) V1505M probably damaging Het
Slc2a10 A G 2: 165,356,802 (GRCm39) N154S probably damaging Het
Slc39a10 A T 1: 46,874,290 (GRCm39) H337Q probably benign Het
Slc39a12 T A 2: 14,404,939 (GRCm39) probably null Het
Slc6a6 T G 6: 91,701,832 (GRCm39) L80R probably damaging Het
Slit1 T C 19: 41,590,074 (GRCm39) Y1404C probably damaging Het
Sowahc A G 10: 59,059,121 (GRCm39) E419G probably damaging Het
Ssh1 T C 5: 114,095,441 (GRCm39) probably null Het
Stab1 C A 14: 30,874,552 (GRCm39) C952F probably damaging Het
Stat5a T C 11: 100,765,850 (GRCm39) M312T possibly damaging Het
Tex2 A G 11: 106,439,562 (GRCm39) I606T unknown Het
Tex55 T C 16: 38,648,809 (GRCm39) E100G possibly damaging Het
Vmn1r19 A G 6: 57,381,813 (GRCm39) H122R possibly damaging Het
Zfp959 A G 17: 56,204,886 (GRCm39) I308V probably benign Het
Other mutations in Or8b43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01738:Or8b43 APN 9 38,360,942 (GRCm39) missense probably damaging 0.97
IGL02149:Or8b43 APN 9 38,360,693 (GRCm39) missense probably damaging 0.97
IGL02869:Or8b43 APN 9 38,360,489 (GRCm39) missense possibly damaging 0.75
IGL02945:Or8b43 APN 9 38,360,812 (GRCm39) missense probably benign 0.00
IGL03269:Or8b43 APN 9 38,360,197 (GRCm39) missense probably benign 0.13
R1955:Or8b43 UTSW 9 38,360,984 (GRCm39) missense probably benign 0.13
R2182:Or8b43 UTSW 9 38,360,420 (GRCm39) missense probably benign 0.21
R2864:Or8b43 UTSW 9 38,360,684 (GRCm39) missense possibly damaging 0.89
R4423:Or8b43 UTSW 9 38,360,662 (GRCm39) missense probably benign 0.03
R4938:Or8b43 UTSW 9 38,360,679 (GRCm39) missense probably benign 0.10
R5537:Or8b43 UTSW 9 38,360,538 (GRCm39) nonsense probably null
R6645:Or8b43 UTSW 9 38,360,219 (GRCm39) missense probably damaging 1.00
R6861:Or8b43 UTSW 9 38,360,731 (GRCm39) missense probably damaging 1.00
R6951:Or8b43 UTSW 9 38,360,234 (GRCm39) missense probably benign 0.00
R9002:Or8b43 UTSW 9 38,360,171 (GRCm39) start codon destroyed probably null 1.00
R9071:Or8b43 UTSW 9 38,361,032 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- GCACCTATGTTAATAAGCTTGTAGC -3'
(R):5'- GTTAACTCAACACAAGACATACTGAGG -3'

Sequencing Primer
(F):5'- GCTTATGTCATAGTGGTCATCAAC -3'
(R):5'- CAAGACATACTGAGGACAAAAAGTAC -3'
Posted On 2019-10-17