Incidental Mutation 'R1273:Or8b42'
ID 151366
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 039339-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1273 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38341580-38342515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38341980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 134 (V134A)
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: V134A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066714
Gene: ENSMUSG00000052058
AA Change: V134A

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: V134A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216644
AA Change: V134A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,217,491 (GRCm39) K122E probably benign Het
Bltp1 T C 3: 37,041,359 (GRCm39) F2579S probably damaging Het
Dnah12 C T 14: 26,460,375 (GRCm39) Q934* probably null Het
Fsip2 G A 2: 82,819,752 (GRCm39) D5162N possibly damaging Het
Lrp6 A G 6: 134,444,470 (GRCm39) probably null Het
Mkx T G 18: 7,002,460 (GRCm39) T29P probably benign Het
Nsmce3 A G 7: 64,522,339 (GRCm39) Y110H probably benign Het
Saal1 A T 7: 46,342,366 (GRCm39) V359E probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmprss11a T A 5: 86,562,447 (GRCm39) R299S probably benign 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
R1475:Or8b42 UTSW 9 38,342,160 (GRCm39) missense probably benign 0.30
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'- AAGGAATGGCCTCTGGCAATGAC -3'
(R):5'- TGCCTTCAGTGGAACGGATATGTG -3'

Sequencing Primer
(F):5'- CCACCACAGTGAAGGAGTTTATTC -3'
(R):5'- CCAGCTCATTGACAGAGGTG -3'
Posted On 2014-01-29