Incidental Mutation 'R3083:Or8b52'
ID 264069
Institutional Source Beutler Lab
Gene Symbol Or8b52
Ensembl Gene ENSMUSG00000063225
Gene Name olfactory receptor family 8 subfamily B member 52
Synonyms MOR168-2P, GA_x6K02T2PVTD-32368166-32367237, Olfr917
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3083 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38576209-38577138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38576912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 76 (V76A)
Ref Sequence ENSEMBL: ENSMUSP00000075857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076542] [ENSMUST00000215461]
AlphaFold Q7TRC3
Predicted Effect probably damaging
Transcript: ENSMUST00000076542
AA Change: V76A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: V76A

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.2e-42 PFAM
Pfam:7tm_1 41 289 3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213750
Predicted Effect probably benign
Transcript: ENSMUST00000215461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217596
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,859,576 (GRCm39) V341A possibly damaging Het
Armc2 T C 10: 41,842,726 (GRCm39) D359G probably damaging Het
Cdh6 T C 15: 13,044,838 (GRCm39) D428G probably damaging Het
Dennd4a A G 9: 64,813,363 (GRCm39) N1441D probably benign Het
Fbln1 T G 15: 85,149,454 (GRCm39) I617S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm15446 A G 5: 110,091,158 (GRCm39) N470S possibly damaging Het
Grin3a G A 4: 49,665,243 (GRCm39) R1131W probably benign Het
H2bc27 A G 11: 58,839,802 (GRCm39) K13E probably benign Het
Incenp T A 19: 9,861,143 (GRCm39) M480L unknown Het
Lrp1b A T 2: 40,490,336 (GRCm39) M275K probably damaging Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Nlrp5 T C 7: 23,129,588 (GRCm39) F885S probably benign Het
Or12d2 T C 17: 37,625,086 (GRCm39) N63S probably damaging Het
Or4c122 A C 2: 89,079,345 (GRCm39) V231G probably damaging Het
Plcl2 T A 17: 50,994,772 (GRCm39) N1080K probably benign Het
Rab3gap2 T A 1: 184,936,466 (GRCm39) S10T probably benign Het
Rtca G A 3: 116,301,674 (GRCm39) probably benign Het
Scn1a A G 2: 66,129,981 (GRCm39) F1278S probably damaging Het
Slitrk3 T C 3: 72,955,928 (GRCm39) D948G probably benign Het
Smu1 T C 4: 40,745,567 (GRCm39) D251G probably damaging Het
Ssh3 C T 19: 4,312,587 (GRCm39) R586H probably benign Het
Tomm40l A T 1: 171,048,780 (GRCm39) L78H probably damaging Het
Vmn2r4 A G 3: 64,296,788 (GRCm39) S666P probably damaging Het
Other mutations in Or8b52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Or8b52 APN 9 38,576,289 (GRCm39) missense probably benign
IGL02704:Or8b52 APN 9 38,577,063 (GRCm39) missense possibly damaging 0.84
R0529:Or8b52 UTSW 9 38,576,808 (GRCm39) missense probably benign 0.11
R1575:Or8b52 UTSW 9 38,576,573 (GRCm39) missense probably damaging 1.00
R1681:Or8b52 UTSW 9 38,576,616 (GRCm39) missense probably benign
R2941:Or8b52 UTSW 9 38,576,322 (GRCm39) missense probably damaging 0.98
R4450:Or8b52 UTSW 9 38,577,050 (GRCm39) missense probably benign 0.17
R4755:Or8b52 UTSW 9 38,577,128 (GRCm39) missense probably benign
R4774:Or8b52 UTSW 9 38,576,519 (GRCm39) missense probably benign 0.21
R5322:Or8b52 UTSW 9 38,576,502 (GRCm39) missense probably benign 0.24
R5577:Or8b52 UTSW 9 38,576,297 (GRCm39) missense possibly damaging 0.49
R6101:Or8b52 UTSW 9 38,576,916 (GRCm39) missense probably damaging 0.99
R6105:Or8b52 UTSW 9 38,576,916 (GRCm39) missense probably damaging 0.99
R7084:Or8b52 UTSW 9 38,576,565 (GRCm39) missense probably benign 0.04
R8048:Or8b52 UTSW 9 38,577,108 (GRCm39) missense probably benign 0.03
R8280:Or8b52 UTSW 9 38,576,783 (GRCm39) missense probably damaging 1.00
R8676:Or8b52 UTSW 9 38,577,064 (GRCm39) missense probably benign 0.02
R8924:Or8b52 UTSW 9 38,576,780 (GRCm39) missense probably damaging 1.00
R9087:Or8b52 UTSW 9 38,576,711 (GRCm39) missense probably damaging 1.00
R9117:Or8b52 UTSW 9 38,577,106 (GRCm39) missense probably benign 0.03
R9220:Or8b52 UTSW 9 38,576,803 (GRCm39) nonsense probably null
R9317:Or8b52 UTSW 9 38,576,655 (GRCm39) missense probably benign 0.00
R9318:Or8b52 UTSW 9 38,576,580 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TAGGAAACAAGCATTAGGTTCAAGC -3'
(R):5'- GGTGGGATTAACTGACAAGCC -3'

Sequencing Primer
(F):5'- GGTTCAAGCATAATTTAGAGGACATG -3'
(R):5'- GGTGGGATTAACTGACAAGCCTTATC -3'
Posted On 2015-02-05