Incidental Mutation 'R4450:Or8b52'
ID 328931
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
MMRRC Submission 041711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4450 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38576209-38577138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38577050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 30 (V30E)
Ref Sequence ENSEMBL: ENSMUSP00000075857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076542] [ENSMUST00000215461]
AlphaFold Q7TRC3
Predicted Effect probably benign
Transcript: ENSMUST00000076542
AA Change: V30E

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: V30E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
Acsl6 A G 11: 54,219,229 (GRCm39) D278G probably damaging Het
Adamdec1 C T 14: 68,810,568 (GRCm39) R196Q probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Angel1 A T 12: 86,768,698 (GRCm39) Y262N probably damaging Het
Arhgef18 A G 8: 3,487,097 (GRCm39) E272G probably damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Brca2 T G 5: 150,459,518 (GRCm39) D264E probably damaging Het
Cdca4 T C 12: 112,785,278 (GRCm39) N150S probably benign Het
Cep162 T C 9: 87,107,861 (GRCm39) S510G probably damaging Het
Cldn12 T C 5: 5,558,398 (GRCm39) T10A probably damaging Het
Clip2 C T 5: 134,531,807 (GRCm39) G631D possibly damaging Het
Col19a1 T A 1: 24,361,116 (GRCm39) T625S probably damaging Het
Col6a5 C T 9: 105,781,720 (GRCm39) G1635D unknown Het
Dcp1b A G 6: 119,183,437 (GRCm39) T175A probably benign Het
Eln C T 5: 134,754,635 (GRCm39) probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm9894 T A 13: 67,913,199 (GRCm39) noncoding transcript Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Klhl42 G A 6: 146,993,169 (GRCm39) G47D probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lzts2 A T 19: 45,012,032 (GRCm39) K154* probably null Het
Map4k3 C T 17: 80,911,411 (GRCm39) probably null Het
Mlc1 A G 15: 88,847,693 (GRCm39) F285S probably benign Het
Myo5a T A 9: 75,074,458 (GRCm39) M789K probably benign Het
Nbeal1 T A 1: 60,306,933 (GRCm39) S319T probably damaging Het
Nsun4 A T 4: 115,908,453 (GRCm39) Y702* probably null Het
Or8g34 G A 9: 39,373,328 (GRCm39) M200I probably benign Het
Osbpl5 T A 7: 143,248,643 (GRCm39) T640S probably benign Het
Plaat1 C T 16: 29,046,976 (GRCm39) T165M possibly damaging Het
Rangrf A T 11: 68,866,010 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,404,786 (GRCm39) probably benign Het
Ros1 C T 10: 51,954,038 (GRCm39) G1867D probably damaging Het
Slc11a1 C A 1: 74,424,694 (GRCm39) probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Syt6 A G 3: 103,492,961 (GRCm39) H156R probably benign Het
Tln2 C T 9: 67,251,347 (GRCm39) probably null Het
Trim58 T C 11: 58,542,191 (GRCm39) W384R probably benign Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
R3083:Or8b52 UTSW 9 38,576,912 (GRCm39) missense probably damaging 0.99
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'- ATAGAGTTGGGCCATACATTCC -3'
(R):5'- AACATACACTTCACAGGGGAG -3'

Sequencing Primer
(F):5'- TTCCATGTAAGAAGTTGTATTCTTCC -3'
(R):5'- CACTTCACAGGGGAGAAGGATCC -3'
Posted On 2015-07-21