Incidental Mutation 'R7608:Or8d2'
ID 588444
Institutional Source Beutler Lab
Gene Symbol Or8d2
Ensembl Gene ENSMUSG00000062103
Gene Name olfactory receptor family 8 subfamily D member 2
Synonyms GA_x6K02T2PVTD-32543982-32544908, MOR171-47, MOR171-27P, Olfr924, MOR171-27P, Olfr1520-ps1
MMRRC Submission 045678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7608 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38759412-38760338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38759806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 132 (V132D)
Ref Sequence ENSEMBL: ENSMUSP00000149849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072977] [ENSMUST00000217350]
AlphaFold Q7TRB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000072977
AA Change: V132D

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072744
Gene: ENSMUSG00000062103
AA Change: V132D

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 4.6e-54 PFAM
Pfam:7TM_GPCR_Srsx 32 279 7.2e-7 PFAM
Pfam:7tm_1 38 287 1.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217350
AA Change: V132D

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.2279 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,347 (GRCm39) F311S probably benign Het
Adamts7 C A 9: 90,055,826 (GRCm39) T193N possibly damaging Het
Akr1b7 A G 6: 34,397,457 (GRCm39) N273S probably damaging Het
Asz1 G A 6: 18,077,252 (GRCm39) T151M probably damaging Het
Atosb A G 4: 43,036,533 (GRCm39) L66P probably damaging Het
Atrnl1 T A 19: 57,703,119 (GRCm39) Y1046N probably damaging Het
Cacna2d1 T C 5: 16,564,022 (GRCm39) S902P probably damaging Het
Casp3 T A 8: 47,087,368 (GRCm39) I105K probably benign Het
Ccdc146 C T 5: 21,506,450 (GRCm39) V664I probably benign Het
Cfap61 G A 2: 145,805,451 (GRCm39) C267Y possibly damaging Het
Dgkz A T 2: 91,764,399 (GRCm39) probably null Het
Dnah11 G T 12: 118,104,505 (GRCm39) probably null Het
Duox1 C A 2: 122,156,616 (GRCm39) Y514* probably null Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fan1 A T 7: 64,003,979 (GRCm39) probably null Het
Fgfrl1 A T 5: 108,853,211 (GRCm39) K278M probably damaging Het
Fign T C 2: 63,809,063 (GRCm39) I736V possibly damaging Het
Galns A G 8: 123,318,184 (GRCm39) F410S probably benign Het
Hspbp1 C A 7: 4,663,821 (GRCm39) K341N possibly damaging Het
Idh3b A T 2: 130,122,900 (GRCm39) S296R probably damaging Het
Ifi44 A G 3: 151,438,045 (GRCm39) F414S probably damaging Het
Kdm3a T A 6: 71,577,731 (GRCm39) M690L probably benign Het
Ldaf1 A G 7: 119,704,011 (GRCm39) K19E probably damaging Het
Lrrc49 C T 9: 60,510,005 (GRCm39) G488S probably null Het
Mcc T C 18: 44,624,294 (GRCm39) N417S possibly damaging Het
Melk T A 4: 44,325,571 (GRCm39) probably null Het
Mtcl1 T C 17: 66,650,300 (GRCm39) R1722G probably damaging Het
Or4a79 A G 2: 89,551,642 (GRCm39) V271A probably benign Het
Or51f23c-ps1 A G 7: 102,431,132 (GRCm39) I150V probably benign Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Pdzrn3 T C 6: 101,128,713 (GRCm39) E651G probably damaging Het
Pop5 A G 5: 115,375,931 (GRCm39) probably benign Het
Prox1 T A 1: 189,885,642 (GRCm39) M602L probably benign Het
Prpf39 G A 12: 65,100,220 (GRCm39) A298T probably benign Het
Scg2 T C 1: 79,413,898 (GRCm39) E275G probably benign Het
Scn11a A T 9: 119,644,379 (GRCm39) probably null Het
Slc16a4 A T 3: 107,210,443 (GRCm39) Y371F probably damaging Het
Slc4a1ap T A 5: 31,693,533 (GRCm39) M489K possibly damaging Het
Spata13 A G 14: 60,929,956 (GRCm39) N505D possibly damaging Het
Tas2r129 A G 6: 132,928,156 (GRCm39) N31S probably damaging Het
Tnn A T 1: 159,915,984 (GRCm39) Y1508* probably null Het
Trim23 T C 13: 104,328,541 (GRCm39) V354A probably benign Het
Tsc1 A T 2: 28,548,748 (GRCm39) T18S probably benign Het
Txlnb A G 10: 17,691,146 (GRCm39) K232R probably damaging Het
Vmn1r53 C T 6: 90,201,104 (GRCm39) M73I probably benign Het
Vmn1r67 G A 7: 10,181,290 (GRCm39) V185M possibly damaging Het
Vmn2r14 A G 5: 109,369,276 (GRCm39) I99T probably benign Het
Zfp318 T G 17: 46,710,935 (GRCm39) V886G probably damaging Het
Zfp760 A G 17: 21,941,797 (GRCm39) N324S probably benign Het
Zfp819 T C 7: 43,266,357 (GRCm39) V280A probably benign Het
Other mutations in Or8d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Or8d2 APN 9 38,759,548 (GRCm39) missense probably damaging 1.00
IGL01673:Or8d2 APN 9 38,760,316 (GRCm39) missense probably benign 0.00
IGL01769:Or8d2 APN 9 38,759,629 (GRCm39) missense probably benign 0.01
IGL02015:Or8d2 APN 9 38,760,090 (GRCm39) missense probably damaging 0.99
IGL02525:Or8d2 APN 9 38,759,536 (GRCm39) missense possibly damaging 0.82
IGL02728:Or8d2 APN 9 38,760,222 (GRCm39) missense probably damaging 1.00
IGL02944:Or8d2 APN 9 38,760,048 (GRCm39) missense possibly damaging 0.88
IGL03127:Or8d2 APN 9 38,759,505 (GRCm39) missense probably damaging 1.00
R0613:Or8d2 UTSW 9 38,759,909 (GRCm39) nonsense probably null
R0811:Or8d2 UTSW 9 38,759,805 (GRCm39) missense probably benign
R0812:Or8d2 UTSW 9 38,759,805 (GRCm39) missense probably benign
R1558:Or8d2 UTSW 9 38,760,200 (GRCm39) missense probably benign 0.00
R1604:Or8d2 UTSW 9 38,760,000 (GRCm39) missense probably benign 0.04
R1681:Or8d2 UTSW 9 38,759,809 (GRCm39) missense probably damaging 1.00
R1730:Or8d2 UTSW 9 38,760,268 (GRCm39) missense probably damaging 1.00
R1783:Or8d2 UTSW 9 38,760,268 (GRCm39) missense probably damaging 1.00
R1791:Or8d2 UTSW 9 38,759,901 (GRCm39) missense possibly damaging 0.75
R2144:Or8d2 UTSW 9 38,759,635 (GRCm39) missense probably damaging 1.00
R5741:Or8d2 UTSW 9 38,759,899 (GRCm39) nonsense probably null
R6521:Or8d2 UTSW 9 38,759,893 (GRCm39) missense probably benign
R6808:Or8d2 UTSW 9 38,760,085 (GRCm39) missense probably damaging 1.00
R7741:Or8d2 UTSW 9 38,759,614 (GRCm39) missense probably damaging 1.00
R8153:Or8d2 UTSW 9 38,759,631 (GRCm39) missense possibly damaging 0.93
R8157:Or8d2 UTSW 9 38,759,762 (GRCm39) nonsense probably null
R8798:Or8d2 UTSW 9 38,760,213 (GRCm39) missense probably benign 0.04
RF004:Or8d2 UTSW 9 38,760,114 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTCTGTCATTACACCAAAGATGTTG -3'
(R):5'- ACAGCCAGTGTAGGTGCAAG -3'

Sequencing Primer
(F):5'- TGGTGAACTTTGTATGTGAGAAGAAC -3'
(R):5'- TAGGTGCAAGGGTATTAACTCCACC -3'
Posted On 2019-10-24