Incidental Mutation 'R1558:Or8d2'
ID 170424
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 039597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1558 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38759412-38760338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38760200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 263 (N263K)
Ref Sequence ENSEMBL: ENSMUSP00000149849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072977] [ENSMUST00000217350]
AlphaFold Q7TRB8
Predicted Effect probably benign
Transcript: ENSMUST00000072977
AA Change: N263K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000072744
Gene: ENSMUSG00000062103
AA Change: N263K

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 probably benign
Transcript: ENSMUST00000217350
AA Change: N263K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Ankrd36 T C 11: 5,585,329 (GRCm39) L380P probably damaging Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Caprin1 A T 2: 103,606,332 (GRCm39) F303I possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fermt1 A T 2: 132,776,739 (GRCm39) probably null Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Hcn1 T C 13: 118,112,112 (GRCm39) V692A unknown Het
Izumo3 A C 4: 92,035,140 (GRCm39) C26G probably damaging Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Npy A G 6: 49,800,705 (GRCm39) E43G probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Sidt2 A T 9: 45,863,098 (GRCm39) M11K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown 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
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
R7608:Or8d2 UTSW 9 38,759,806 (GRCm39) missense possibly damaging 0.63
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'- ACCGCTATGTTGCCATCTGTAGCC -3'
(R):5'- ACTCAATTTGTCAGGATAGCTGCCTTC -3'

Sequencing Primer
(F):5'- TGGGGCTACTGTCCATACAAC -3'
(R):5'- GATAGCTGCCTTCCACCAAC -3'
Posted On 2014-04-13