Incidental Mutation 'R1475:Or8b42'
ID 164002
Institutional Source Beutler Lab
Gene Symbol Or8b42
Ensembl Gene ENSMUSG00000052058
Gene Name olfactory receptor family 8 subfamily B member 42
Synonyms Olfr901, GA_x6K02T2PVTD-32123032-32123967, MOR162-8
MMRRC Submission 039528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1475 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38341580-38342515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38342160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 194 (V194D)
Ref Sequence ENSEMBL: ENSMUSP00000150506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063716] [ENSMUST00000216502] [ENSMUST00000216644]
AlphaFold Q7TRD1
Predicted Effect probably benign
Transcript: ENSMUST00000063716
AA Change: V194D

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066714
Gene: ENSMUSG00000052058
AA Change: V194D

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.2e-47 PFAM
Pfam:7tm_1 42 290 3.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216502
AA Change: V194D

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216644
AA Change: V194D

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (46/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A T 8: 122,267,327 (GRCm39) probably benign Het
9230112D13Rik T A 14: 34,234,012 (GRCm39) D93V unknown Het
Aatk G A 11: 119,901,714 (GRCm39) T894M probably damaging Het
Acacb T C 5: 114,333,313 (GRCm39) I479T possibly damaging Het
Acap3 T C 4: 155,987,278 (GRCm39) I431T probably damaging Het
Adgrl1 A G 8: 84,664,979 (GRCm39) K1267R possibly damaging Het
Bphl A C 13: 34,244,507 (GRCm39) D208A probably benign Het
C2cd5 T C 6: 143,018,298 (GRCm39) D308G possibly damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Cdk11b G A 4: 155,718,674 (GRCm39) R208H probably damaging Het
Cfap44 T C 16: 44,254,175 (GRCm39) probably benign Het
Chrna4 T C 2: 180,671,172 (GRCm39) S195G probably benign Het
Cpsf2 T C 12: 101,951,495 (GRCm39) L144S probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dffa T A 4: 149,201,935 (GRCm39) L171Q probably damaging Het
Emcn C T 3: 137,085,668 (GRCm39) H89Y possibly damaging Het
Espn G A 4: 152,218,728 (GRCm39) P452S probably damaging Het
Fam78b T A 1: 166,829,346 (GRCm39) I71N probably damaging Het
Fam89b A G 19: 5,779,447 (GRCm39) S37P probably damaging Het
Fat4 G A 3: 38,942,472 (GRCm39) R455H probably damaging Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Fcamr T A 1: 130,742,221 (GRCm39) probably null Het
Fermt3 T C 19: 6,996,242 (GRCm39) probably null Het
Fsip2 A T 2: 82,817,539 (GRCm39) D4424V probably damaging Het
Gaa G A 11: 119,165,142 (GRCm39) probably null Het
Glce T C 9: 61,968,210 (GRCm39) T314A possibly damaging Het
Hdac5 T C 11: 102,093,012 (GRCm39) Q575R possibly damaging Het
Il23r C A 6: 67,429,280 (GRCm39) probably null Het
Kcnj4 T A 15: 79,368,831 (GRCm39) E383V probably damaging Het
Lrsam1 G T 2: 32,844,277 (GRCm39) Q115K possibly damaging Het
Lyst T A 13: 13,882,797 (GRCm39) probably null Het
Myf5 A G 10: 107,320,515 (GRCm39) V190A probably benign Het
Nmnat2 G A 1: 152,950,441 (GRCm39) R42H probably damaging Het
Or8k20 A T 2: 86,105,905 (GRCm39) *309R probably null Het
Osbpl1a T A 18: 12,890,737 (GRCm39) K380M probably damaging Het
Pgd T C 4: 149,241,232 (GRCm39) T226A probably benign Het
Pitpnm3 T C 11: 71,965,453 (GRCm39) T127A probably damaging Het
Plekhm2 T C 4: 141,355,165 (GRCm39) D954G possibly damaging Het
Pramel14 T C 4: 143,720,882 (GRCm39) K20E probably benign Het
Rasal1 T A 5: 120,801,047 (GRCm39) F236I possibly damaging Het
Stab1 T C 14: 30,885,785 (GRCm39) N63S probably benign Het
Syf2 T A 4: 134,662,745 (GRCm39) M145K possibly damaging Het
Usp34 C A 11: 23,423,253 (GRCm39) L3152I probably damaging Het
Usp50 T C 2: 126,611,787 (GRCm39) probably null Het
Wdfy4 A T 14: 32,830,645 (GRCm39) I929N probably benign Het
Zfp874b A T 13: 67,622,211 (GRCm39) probably null Het
Other mutations in Or8b42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Or8b42 APN 9 38,341,811 (GRCm39) missense probably benign 0.20
IGL01875:Or8b42 APN 9 38,341,594 (GRCm39) missense probably damaging 1.00
R0010:Or8b42 UTSW 9 38,342,216 (GRCm39) missense possibly damaging 0.70
R1186:Or8b42 UTSW 9 38,342,397 (GRCm39) missense possibly damaging 0.85
R1259:Or8b42 UTSW 9 38,342,169 (GRCm39) missense probably damaging 0.99
R1273:Or8b42 UTSW 9 38,341,980 (GRCm39) missense probably benign 0.05
R1530:Or8b42 UTSW 9 38,341,620 (GRCm39) missense probably damaging 0.97
R1591:Or8b42 UTSW 9 38,341,707 (GRCm39) missense probably damaging 1.00
R1750:Or8b42 UTSW 9 38,341,986 (GRCm39) missense probably damaging 1.00
R1756:Or8b42 UTSW 9 38,342,291 (GRCm39) missense probably benign
R2080:Or8b42 UTSW 9 38,342,378 (GRCm39) missense probably benign 0.01
R3081:Or8b42 UTSW 9 38,342,352 (GRCm39) missense possibly damaging 0.82
R4174:Or8b42 UTSW 9 38,342,316 (GRCm39) missense probably damaging 0.97
R4299:Or8b42 UTSW 9 38,342,108 (GRCm39) missense probably damaging 1.00
R4898:Or8b42 UTSW 9 38,342,111 (GRCm39) missense probably benign 0.01
R5068:Or8b42 UTSW 9 38,341,760 (GRCm39) missense probably damaging 1.00
R5695:Or8b42 UTSW 9 38,342,472 (GRCm39) missense probably benign 0.01
R5973:Or8b42 UTSW 9 38,341,627 (GRCm39) missense probably damaging 0.99
R6929:Or8b42 UTSW 9 38,342,444 (GRCm39) missense probably benign 0.22
R8265:Or8b42 UTSW 9 38,342,469 (GRCm39) missense probably damaging 0.99
R8321:Or8b42 UTSW 9 38,341,850 (GRCm39) missense probably damaging 0.97
R9425:Or8b42 UTSW 9 38,342,286 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- GCAATGACTCCACCACAGTGAAGG -3'
(R):5'- AACAGCTATTATGTGCGAGCTACAGG -3'

Sequencing Primer
(F):5'- TGCTGAGTGCATGACTCAAC -3'
(R):5'- CAGGTACTAATAGCCTTGGATCTGC -3'
Posted On 2014-03-28