Incidental Mutation 'R4878:Or1d2'
ID 375074
Institutional Source Beutler Lab
Gene Symbol Or1d2
Ensembl Gene ENSMUSG00000058275
Gene Name olfactory receptor family 1 subfamily D member 2
Synonyms Olfr412, GA_x6K02T2P1NL-4500587-4501525, MOR127-5P
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74255497-74256435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74255674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 60 (Y60H)
Ref Sequence ENSEMBL: ENSMUSP00000149922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077794] [ENSMUST00000216362]
AlphaFold Q7TRW7
Predicted Effect probably damaging
Transcript: ENSMUST00000077794
AA Change: Y60H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076967
Gene: ENSMUSG00000058275
AA Change: Y60H

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 172 1.8e-8 PFAM
Pfam:7tm_1 41 289 3.8e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216362
AA Change: Y60H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2355 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
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
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null Het
Other mutations in Or1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Or1d2 APN 11 74,255,738 (GRCm39) missense possibly damaging 0.82
IGL01395:Or1d2 APN 11 74,255,713 (GRCm39) missense probably damaging 1.00
IGL01418:Or1d2 APN 11 74,255,810 (GRCm39) missense possibly damaging 0.85
IGL01645:Or1d2 APN 11 74,256,359 (GRCm39) missense possibly damaging 0.95
IGL02421:Or1d2 APN 11 74,256,017 (GRCm39) missense probably damaging 1.00
IGL02424:Or1d2 APN 11 74,256,299 (GRCm39) missense probably benign 0.09
R0206:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R0206:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R0278:Or1d2 UTSW 11 74,256,028 (GRCm39) missense probably damaging 1.00
R0698:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R1424:Or1d2 UTSW 11 74,255,780 (GRCm39) missense probably benign 0.05
R1549:Or1d2 UTSW 11 74,256,076 (GRCm39) missense probably benign 0.00
R1659:Or1d2 UTSW 11 74,255,759 (GRCm39) missense probably benign 0.01
R1755:Or1d2 UTSW 11 74,255,819 (GRCm39) missense probably damaging 1.00
R2031:Or1d2 UTSW 11 74,255,777 (GRCm39) missense probably damaging 1.00
R2185:Or1d2 UTSW 11 74,255,572 (GRCm39) missense probably benign
R3620:Or1d2 UTSW 11 74,256,050 (GRCm39) missense probably damaging 1.00
R4568:Or1d2 UTSW 11 74,256,035 (GRCm39) missense probably damaging 0.99
R7779:Or1d2 UTSW 11 74,255,771 (GRCm39) missense probably damaging 1.00
R8086:Or1d2 UTSW 11 74,255,780 (GRCm39) missense probably benign 0.05
R9155:Or1d2 UTSW 11 74,255,791 (GRCm39) missense probably benign 0.03
R9396:Or1d2 UTSW 11 74,256,089 (GRCm39) missense probably benign 0.01
R9750:Or1d2 UTSW 11 74,255,858 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TGCTCACATTGCAGACAACTG -3'
(R):5'- TGGCCACATAACGGTCATATG -3'

Sequencing Primer
(F):5'- CTCACATTGCAGACAACTGGGAAATG -3'
(R):5'- GTCATATGCCATTACAGCCAGGATG -3'
Posted On 2016-03-17