Incidental Mutation 'R6502:Or8d1'
ID 519800
Institutional Source Beutler Lab
Gene Symbol Or8d1
Ensembl Gene ENSMUSG00000047667
Gene Name olfactory receptor family 8 subfamily D member 1
Synonyms GA_x6K02T2PVTD-32550930-32551856, MOR171-9, MTPCR09, Olfr26
MMRRC Submission 044634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 38766356-38767286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 38766933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 192 (T192P)
Ref Sequence ENSEMBL: ENSMUSP00000100467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104874] [ENSMUST00000217350]
AlphaFold Q7TRB7
Predicted Effect probably damaging
Transcript: ENSMUST00000104874
AA Change: T192P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100467
Gene: ENSMUSG00000047667
AA Change: T192P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.8e-49 PFAM
Pfam:7tm_1 41 290 2.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217350
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,333,908 (GRCm39) I24K probably benign Het
Adamts9 A T 6: 92,849,316 (GRCm39) C467S probably damaging Het
Adcy7 G A 8: 89,052,107 (GRCm39) R925Q probably damaging Het
Akap6 G A 12: 53,186,998 (GRCm39) G1471S probably damaging Het
Ap2b1 T C 11: 83,233,505 (GRCm39) V506A probably damaging Het
Apob A G 12: 8,051,814 (GRCm39) I1113M probably damaging Het
Arsg A T 11: 109,408,162 (GRCm39) N105Y probably damaging Het
Blm T A 7: 80,131,223 (GRCm39) Y872F probably damaging Het
Btaf1 A T 19: 36,961,017 (GRCm39) N797Y probably benign Het
Camsap1 T C 2: 25,846,320 (GRCm39) E201G probably damaging Het
Ccdc122 T A 14: 77,279,509 (GRCm39) probably null Homo
Ccdc141 A G 2: 77,000,745 (GRCm39) V29A probably damaging Het
Cd244a T A 1: 171,405,447 (GRCm39) D277E probably benign Het
Cfap157 T C 2: 32,670,690 (GRCm39) Y186C probably damaging Het
Ciita C T 16: 10,329,774 (GRCm39) A686V probably damaging Het
Clptm1l T C 13: 73,765,884 (GRCm39) probably null Het
Col16a1 C T 4: 129,949,787 (GRCm39) P50L probably damaging Het
Crisp3 A T 17: 40,546,804 (GRCm39) V38D probably damaging Het
Cyfip2 T C 11: 46,112,173 (GRCm39) E1010G probably damaging Het
Dvl3 G A 16: 20,346,133 (GRCm39) E488K probably damaging Het
Eed C A 7: 89,626,237 (GRCm39) E45D probably benign Het
Eln A G 5: 134,754,628 (GRCm39) probably benign Het
Fah T A 7: 84,244,043 (GRCm39) I239F probably damaging Het
Fbxw5 T A 2: 25,392,448 (GRCm39) Y77N possibly damaging Het
Garnl3 T C 2: 32,896,833 (GRCm39) E602G possibly damaging Het
Gkn3 A T 6: 87,365,786 (GRCm39) M11K probably benign Het
Glt1d1 A G 5: 127,784,045 (GRCm39) Y333C probably damaging Het
Gm10762 A T 2: 128,809,090 (GRCm39) Y86* probably null Het
Gm14496 A G 2: 181,642,386 (GRCm39) M686V probably benign Het
Gse1 T A 8: 121,280,428 (GRCm39) probably null Het
Herc4 C A 10: 63,153,197 (GRCm39) T1035K probably benign Het
Hmcn2 T A 2: 31,272,490 (GRCm39) N1323K probably damaging Het
Hnrnpd T A 5: 100,114,025 (GRCm39) E3D probably damaging Het
Htr7 T A 19: 35,947,010 (GRCm39) I335F probably damaging Het
Ift70b T A 2: 75,767,448 (GRCm39) N435I possibly damaging Het
Itgae A T 11: 73,036,418 (GRCm39) I1119F probably benign Het
Lcn11 T C 2: 25,669,103 (GRCm39) F137S probably benign Het
Lrp3 T G 7: 34,903,413 (GRCm39) D311A possibly damaging Het
Lrrc1 G T 9: 77,349,473 (GRCm39) D364E probably damaging Het
Lrrc37a T A 11: 103,383,005 (GRCm39) E2456V unknown Het
Lrriq1 T C 10: 103,063,045 (GRCm39) Y87C probably damaging Het
Mcc A T 18: 44,601,457 (GRCm39) L449* probably null Het
Mcc A T 18: 44,601,458 (GRCm39) L624M probably damaging Het
Mcm9 T C 10: 53,488,935 (GRCm39) T496A probably damaging Het
Myef2 T A 2: 124,958,602 (GRCm39) D109V probably damaging Het
Myom3 C T 4: 135,489,824 (GRCm39) probably benign Het
Nanos1 G T 19: 60,744,977 (GRCm39) G92W possibly damaging Het
Ncor1 T A 11: 62,272,240 (GRCm39) K84* probably null Het
Neb T A 2: 52,181,094 (GRCm39) D1171V probably benign Het
Notch3 A G 17: 32,377,191 (GRCm39) W267R probably damaging Het
Or5d39 A T 2: 87,980,360 (GRCm39) M1K probably null Het
Per2 A G 1: 91,355,485 (GRCm39) S758P probably benign Het
Pi4k2a A G 19: 42,079,371 (GRCm39) Q144R probably benign Het
Pirb A T 7: 3,720,392 (GRCm39) V327E probably benign Het
Pla2g4a C T 1: 149,748,367 (GRCm39) W272* probably null Het
Plekha4 T A 7: 45,180,000 (GRCm39) M1K probably null Het
Ppt2 A G 17: 34,844,894 (GRCm39) C117R probably damaging Het
Prph A T 15: 98,954,267 (GRCm39) I222F probably damaging Het
Rbm43 T C 2: 51,815,588 (GRCm39) D211G probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Rnf123 G T 9: 107,945,531 (GRCm39) Q380K possibly damaging Het
Rnf145 T C 11: 44,415,932 (GRCm39) F49S probably damaging Het
Sall4 A G 2: 168,597,628 (GRCm39) I404T probably damaging Het
Slc25a39 G A 11: 102,295,286 (GRCm39) P228L probably damaging Het
Tbc1d14 T C 5: 36,677,825 (GRCm39) T377A possibly damaging Het
Tbc1d17 A G 7: 44,491,049 (GRCm39) I555T probably benign Het
Tmem131l A T 3: 83,829,715 (GRCm39) S980T probably damaging Het
Tmem14a G T 1: 21,299,662 (GRCm39) L97F possibly damaging Het
Tmem98 T C 11: 80,703,461 (GRCm39) V26A probably benign Het
Tmppe G T 9: 114,234,720 (GRCm39) G340W probably damaging Het
Tsc1 T C 2: 28,555,613 (GRCm39) S237P probably damaging Het
Ubr4 C T 4: 139,171,982 (GRCm39) R2992W probably damaging Het
Ugt2a2 A G 5: 87,608,318 (GRCm39) V673A possibly damaging Het
Vmn2r19 T C 6: 123,293,067 (GRCm39) Y370H possibly damaging Het
Vmn2r20 A G 6: 123,373,342 (GRCm39) F500S possibly damaging Het
Zc3h7b A G 15: 81,653,252 (GRCm39) Y47C probably benign Het
Zdhhc13 A G 7: 48,465,308 (GRCm39) E406G possibly damaging Het
Zfp418 T C 7: 7,185,599 (GRCm39) S521P possibly damaging Het
Other mutations in Or8d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Or8d1 APN 9 38,767,095 (GRCm39) missense probably benign 0.00
IGL01909:Or8d1 APN 9 38,767,013 (GRCm39) nonsense probably null
IGL02146:Or8d1 APN 9 38,766,654 (GRCm39) missense probably benign 0.01
IGL02229:Or8d1 APN 9 38,766,712 (GRCm39) missense possibly damaging 0.62
IGL02382:Or8d1 APN 9 38,766,364 (GRCm39) missense probably benign
IGL03007:Or8d1 APN 9 38,766,592 (GRCm39) missense probably damaging 1.00
IGL03118:Or8d1 APN 9 38,766,526 (GRCm39) missense probably damaging 1.00
PIT4403001:Or8d1 UTSW 9 38,766,676 (GRCm39) missense probably benign 0.39
R0590:Or8d1 UTSW 9 38,766,766 (GRCm39) missense probably damaging 0.99
R0862:Or8d1 UTSW 9 38,766,478 (GRCm39) missense possibly damaging 0.89
R1779:Or8d1 UTSW 9 38,766,846 (GRCm39) missense possibly damaging 0.55
R1796:Or8d1 UTSW 9 38,766,820 (GRCm39) missense probably benign 0.01
R2083:Or8d1 UTSW 9 38,766,637 (GRCm39) missense probably benign 0.10
R3420:Or8d1 UTSW 9 38,766,621 (GRCm39) missense possibly damaging 0.92
R3421:Or8d1 UTSW 9 38,766,621 (GRCm39) missense possibly damaging 0.92
R4328:Or8d1 UTSW 9 38,767,132 (GRCm39) missense possibly damaging 0.62
R4470:Or8d1 UTSW 9 38,766,927 (GRCm39) missense probably damaging 1.00
R4471:Or8d1 UTSW 9 38,766,927 (GRCm39) missense probably damaging 1.00
R5047:Or8d1 UTSW 9 38,766,585 (GRCm39) missense probably benign 0.36
R5267:Or8d1 UTSW 9 38,767,101 (GRCm39) missense probably damaging 1.00
R5318:Or8d1 UTSW 9 38,766,744 (GRCm39) missense probably damaging 1.00
R7221:Or8d1 UTSW 9 38,766,538 (GRCm39) missense probably damaging 1.00
R7297:Or8d1 UTSW 9 38,767,245 (GRCm39) missense probably damaging 1.00
R7448:Or8d1 UTSW 9 38,766,412 (GRCm39) missense probably damaging 1.00
R7525:Or8d1 UTSW 9 38,766,534 (GRCm39) missense possibly damaging 0.89
R8040:Or8d1 UTSW 9 38,766,460 (GRCm39) missense probably damaging 0.99
R8303:Or8d1 UTSW 9 38,766,837 (GRCm39) missense probably damaging 1.00
R8972:Or8d1 UTSW 9 38,767,254 (GRCm39) missense probably damaging 1.00
Z1177:Or8d1 UTSW 9 38,766,531 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGCCATGGCGTATGATCG -3'
(R):5'- CCACAGCCATAAGATGAGAGCTG -3'

Sequencing Primer
(F):5'- ATCGCTATGTGGCCATCTGTAGAC -3'
(R):5'- AGCTGCAGGTTCCAAAGGATTTG -3'
Posted On 2018-06-06