Incidental Mutation 'R6648:Or1ad6'
ID 524368
Institutional Source Beutler Lab
Gene Symbol Or1ad6
Ensembl Gene ENSMUSG00000050343
Gene Name olfactory receptor family 1 subfamily AD member 6
Synonyms Olfr1378, GA_x6K02T2QP88-4469162-4468215, MOR129-2
MMRRC Submission 044769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6648 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50859847-50860794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50860000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 52 (D52N)
Ref Sequence ENSEMBL: ENSMUSP00000149432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052285] [ENSMUST00000213259]
AlphaFold Q8VGH0
Predicted Effect probably damaging
Transcript: ENSMUST00000052285
AA Change: D52N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058119
Gene: ENSMUSG00000050343
AA Change: D52N

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5.1e-54 PFAM
Pfam:7tm_1 41 289 1.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213259
AA Change: D52N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4145 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,490 (GRCm39) Y511H probably damaging Het
Arhgef38 A T 3: 132,838,236 (GRCm39) I600N probably damaging Het
Cacna1g A T 11: 94,323,395 (GRCm39) C1270S probably damaging Het
Ccar2 T G 14: 70,376,674 (GRCm39) D890A probably benign Het
Cep76 A T 18: 67,752,804 (GRCm39) V548D probably benign Het
Chat T G 14: 32,176,651 (GRCm39) Q41P probably benign Het
Ddx24 T A 12: 103,374,634 (GRCm39) N850I probably benign Het
Dst A G 1: 34,301,122 (GRCm39) I5879V possibly damaging Het
Ece1 A G 4: 137,648,470 (GRCm39) T92A probably benign Het
Ecrg4 T A 1: 43,777,851 (GRCm39) F87I probably damaging Het
Fpgs G T 2: 32,574,799 (GRCm39) C439* probably null Het
H2-Q4 A T 17: 35,601,981 (GRCm39) E281V probably damaging Het
Hydin A G 8: 111,252,299 (GRCm39) probably null Het
Iqgap2 T C 13: 95,818,719 (GRCm39) E679G probably benign Het
Kif12 A T 4: 63,089,554 (GRCm39) probably null Het
Kif21b T C 1: 136,080,135 (GRCm39) V557A probably benign Het
Mki67 C G 7: 135,299,169 (GRCm39) S1955T probably damaging Het
Mybpc1 G A 10: 88,358,861 (GRCm39) T1110M probably damaging Het
Myh9 T C 15: 77,650,972 (GRCm39) H1625R probably benign Het
Nbeal2 G A 9: 110,466,710 (GRCm39) T704M probably damaging Het
Or5a21 A T 19: 12,311,130 (GRCm39) M30K probably benign Het
Osbpl9 C A 4: 108,948,876 (GRCm39) Q91H possibly damaging Het
Pcsk5 A T 19: 17,553,185 (GRCm39) L665Q probably damaging Het
Pgm5 T C 19: 24,838,996 (GRCm39) D53G probably benign Het
Plcd4 A G 1: 74,591,172 (GRCm39) D189G probably benign Het
Plxnb1 A T 9: 108,933,398 (GRCm39) Q676L probably benign Het
Prss33 A G 17: 24,053,676 (GRCm39) S134P probably benign Het
Rln1 G T 19: 29,309,521 (GRCm39) T86K probably benign Het
Rnf213 G A 11: 119,370,746 (GRCm39) A4785T possibly damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3tc2 T C 18: 62,148,111 (GRCm39) C1274R probably benign Het
Slc35a5 A T 16: 44,964,280 (GRCm39) F318I probably damaging Het
Slc41a3 T C 6: 90,596,490 (GRCm39) F20L probably damaging Het
Socs4 T A 14: 47,527,633 (GRCm39) N189K probably benign Het
Tiam2 A T 17: 3,557,148 (GRCm39) E1196V probably damaging Het
Tmc3 T A 7: 83,246,751 (GRCm39) V164D probably damaging Het
Trim46 T C 3: 89,142,549 (GRCm39) E623G possibly damaging Het
Ubr4 C A 4: 139,180,030 (GRCm39) C3403* probably null Het
Vmn1r194 A T 13: 22,428,694 (GRCm39) T104S probably benign Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Zfp1002 T C 2: 150,097,097 (GRCm39) I111V probably benign Het
Zmynd11 T G 13: 9,763,057 (GRCm39) S95R probably benign Het
Zswim4 C A 8: 84,957,543 (GRCm39) R175L probably benign Het
Other mutations in Or1ad6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Or1ad6 APN 11 50,859,946 (GRCm39) missense probably benign 0.00
PIT4243001:Or1ad6 UTSW 11 50,860,379 (GRCm39) missense probably damaging 1.00
R0540:Or1ad6 UTSW 11 50,860,670 (GRCm39) missense possibly damaging 0.96
R0607:Or1ad6 UTSW 11 50,860,670 (GRCm39) missense possibly damaging 0.96
R0699:Or1ad6 UTSW 11 50,860,645 (GRCm39) missense probably damaging 1.00
R0719:Or1ad6 UTSW 11 50,860,761 (GRCm39) nonsense probably null
R2117:Or1ad6 UTSW 11 50,860,147 (GRCm39) missense probably damaging 0.98
R2263:Or1ad6 UTSW 11 50,860,696 (GRCm39) missense possibly damaging 0.75
R3402:Or1ad6 UTSW 11 50,859,895 (GRCm39) missense probably benign
R3767:Or1ad6 UTSW 11 50,860,385 (GRCm39) missense probably damaging 1.00
R3768:Or1ad6 UTSW 11 50,860,385 (GRCm39) missense probably damaging 1.00
R3769:Or1ad6 UTSW 11 50,860,385 (GRCm39) missense probably damaging 1.00
R4293:Or1ad6 UTSW 11 50,860,253 (GRCm39) missense probably damaging 1.00
R4409:Or1ad6 UTSW 11 50,860,223 (GRCm39) missense probably damaging 1.00
R4446:Or1ad6 UTSW 11 50,860,690 (GRCm39) missense probably damaging 1.00
R4731:Or1ad6 UTSW 11 50,860,093 (GRCm39) missense possibly damaging 0.78
R4732:Or1ad6 UTSW 11 50,860,093 (GRCm39) missense possibly damaging 0.78
R4733:Or1ad6 UTSW 11 50,860,093 (GRCm39) missense possibly damaging 0.78
R5437:Or1ad6 UTSW 11 50,859,935 (GRCm39) missense probably benign 0.02
R6085:Or1ad6 UTSW 11 50,859,950 (GRCm39) missense
R7419:Or1ad6 UTSW 11 50,860,152 (GRCm39) nonsense probably null
R7686:Or1ad6 UTSW 11 50,860,582 (GRCm39) missense possibly damaging 0.92
R8440:Or1ad6 UTSW 11 50,860,024 (GRCm39) missense probably damaging 1.00
R9408:Or1ad6 UTSW 11 50,860,613 (GRCm39) missense probably damaging 1.00
R9451:Or1ad6 UTSW 11 50,859,950 (GRCm39) missense
R9663:Or1ad6 UTSW 11 50,860,165 (GRCm39) missense probably benign 0.15
R9711:Or1ad6 UTSW 11 50,860,316 (GRCm39) missense probably damaging 1.00
X0011:Or1ad6 UTSW 11 50,860,481 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCCAATCATACCTGGCAATGG -3'
(R):5'- ATAGGCCATCACACTCAGGAGG -3'

Sequencing Primer
(F):5'- CATACCTGGCAATGGAACTTTC -3'
(R):5'- GAAGCCATCCATGTTGATGAATGTG -3'
Posted On 2018-06-22