Incidental Mutation 'R6702:Or5d46'
ID 528793
Institutional Source Beutler Lab
Gene Symbol Or5d46
Ensembl Gene ENSMUSG00000050023
Gene Name olfactory receptor family 5 subfamily D member 46
Synonyms Olfr1176, MOR174-5, GA_x6K02T2Q125-49824309-49825256
MMRRC Submission 044820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6702 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88169911-88170858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88170586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 226 (V226I)
Ref Sequence ENSEMBL: ENSMUSP00000149943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057439] [ENSMUST00000137895] [ENSMUST00000213778] [ENSMUST00000216713]
AlphaFold Q8VG40
Predicted Effect probably benign
Transcript: ENSMUST00000057439
AA Change: V226I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: V226I

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:7tm_4 32 309 5.3e-46 PFAM
Pfam:7tm_1 42 291 4.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137895
Predicted Effect probably benign
Transcript: ENSMUST00000213778
AA Change: V226I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000216713
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 97% (59/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T A 10: 21,497,558 (GRCm39) Y66* probably null Het
Ak3 A G 19: 29,003,627 (GRCm39) V183A probably damaging Het
Ano10 G T 9: 122,088,630 (GRCm39) Q397K possibly damaging Het
Atg7 C A 6: 114,648,058 (GRCm39) probably null Het
Brpf3 A C 17: 29,029,633 (GRCm39) N531T probably benign Het
Casp2 T C 6: 42,244,985 (GRCm39) V128A probably benign Het
Cdcp2 T C 4: 106,964,283 (GRCm39) C378R probably benign Het
Cfap54 T A 10: 92,704,596 (GRCm39) D2828V unknown Het
Col6a3 T C 1: 90,707,161 (GRCm39) D1984G unknown Het
Csnk2a1 A G 2: 152,100,608 (GRCm39) T93A probably benign Het
Ddx54 T A 5: 120,764,568 (GRCm39) D758E possibly damaging Het
Dlx2 A G 2: 71,376,571 (GRCm39) S56P probably damaging Het
Dna2 T A 10: 62,809,073 (GRCm39) I1055N possibly damaging Het
Dnah10 A G 5: 124,882,869 (GRCm39) Y2909C probably damaging Het
Dnm3 A G 1: 162,146,256 (GRCm39) F296L probably benign Het
Fat1 A G 8: 45,406,083 (GRCm39) T945A probably benign Het
Herpud1 T C 8: 95,119,154 (GRCm39) probably null Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kif26b C G 1: 178,744,852 (GRCm39) S1649R possibly damaging Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Ltbr A G 6: 125,285,031 (GRCm39) S290P probably benign Het
Map4k1 T G 7: 28,701,821 (GRCm39) S803A possibly damaging Het
Mef2c T A 13: 83,773,525 (GRCm39) C134S possibly damaging Het
Myo15a A G 11: 60,383,818 (GRCm39) I1622V probably benign Het
Nbea A G 3: 55,912,923 (GRCm39) Y955H probably benign Het
Ndor1 A G 2: 25,139,902 (GRCm39) F142S possibly damaging Het
Nynrin A G 14: 56,101,935 (GRCm39) T535A possibly damaging Het
Or4k15 A G 14: 50,364,688 (GRCm39) Y218C probably damaging Het
Or4k42 T A 2: 111,320,454 (GRCm39) probably null Het
Or5ac23 C T 16: 59,148,961 (GRCm39) V304I probably benign Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Pcdhb13 T G 18: 37,577,828 (GRCm39) H735Q probably benign Het
Pcdhb7 A T 18: 37,474,959 (GRCm39) M32L probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Per2 C T 1: 91,355,671 (GRCm39) E696K probably damaging Het
Pld4 T C 12: 112,731,485 (GRCm39) S213P probably damaging Het
Prkg1 T A 19: 30,970,484 (GRCm39) H209L probably benign Het
Psg16 T C 7: 16,824,321 (GRCm39) L35P probably damaging Het
Pxn C T 5: 115,689,955 (GRCm39) L160F probably benign Het
Rab3a A G 8: 71,209,095 (GRCm39) D77G probably damaging Het
Resf1 T A 6: 149,229,376 (GRCm39) N807K probably damaging Het
Rgma A T 7: 73,067,068 (GRCm39) T108S probably damaging Het
Rxrg A G 1: 167,441,374 (GRCm39) S51G probably benign Het
S1pr3 A T 13: 51,573,475 (GRCm39) I219F probably damaging Het
Sec23b A T 2: 144,401,109 (GRCm39) probably null Het
Sfrp5 G T 19: 42,190,266 (GRCm39) T62K probably benign Het
Slco1a6 T A 6: 142,048,826 (GRCm39) Y318F probably damaging Het
Slit1 A C 19: 41,603,309 (GRCm39) S931A possibly damaging Het
Sorl1 A T 9: 41,982,497 (GRCm39) V361E probably damaging Het
St6galnac2 A G 11: 116,575,213 (GRCm39) S209P probably benign Het
Supt6 C A 11: 78,122,626 (GRCm39) R199L possibly damaging Het
Tas2r107 A C 6: 131,636,347 (GRCm39) M234R probably benign Het
Tmem72 C G 6: 116,675,310 (GRCm39) V61L probably benign Het
Trpm5 C A 7: 142,623,055 (GRCm39) probably benign Het
Ttn T G 2: 76,550,456 (GRCm39) T23282P probably damaging Het
Ubap2 GCCCGCTTGCCCCGCT GCCCGCTTGCCCCGCTTGCCCCGCT 4: 41,227,210 (GRCm39) probably benign Het
Ubr3 A T 2: 69,786,393 (GRCm39) R836W probably benign Het
Umodl1 A G 17: 31,205,273 (GRCm39) probably null Het
Ythdf1 A G 2: 180,560,926 (GRCm39) probably null Het
Zfp780b T C 7: 27,671,066 (GRCm39) T81A possibly damaging Het
Zfp811 T C 17: 33,016,816 (GRCm39) E407G probably damaging Het
Other mutations in Or5d46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Or5d46 APN 2 88,170,771 (GRCm39) missense probably damaging 1.00
IGL02166:Or5d46 APN 2 88,170,022 (GRCm39) missense probably damaging 0.97
IGL02340:Or5d46 APN 2 88,169,906 (GRCm39) unclassified probably benign
IGL02598:Or5d46 APN 2 88,170,595 (GRCm39) missense possibly damaging 0.64
IGL03069:Or5d46 APN 2 88,170,643 (GRCm39) splice site probably null
IGL03212:Or5d46 APN 2 88,170,016 (GRCm39) missense probably damaging 1.00
R1959:Or5d46 UTSW 2 88,170,545 (GRCm39) missense probably damaging 1.00
R1960:Or5d46 UTSW 2 88,170,545 (GRCm39) missense probably damaging 1.00
R2907:Or5d46 UTSW 2 88,170,827 (GRCm39) missense probably benign 0.11
R2908:Or5d46 UTSW 2 88,170,827 (GRCm39) missense probably benign 0.11
R4049:Or5d46 UTSW 2 88,174,144 (GRCm39) splice site probably null
R4257:Or5d46 UTSW 2 88,170,621 (GRCm39) missense probably damaging 1.00
R4823:Or5d46 UTSW 2 88,170,179 (GRCm39) missense probably damaging 0.96
R4897:Or5d46 UTSW 2 88,174,686 (GRCm39) missense possibly damaging 0.89
R5106:Or5d46 UTSW 2 88,170,454 (GRCm39) missense probably benign 0.07
R5192:Or5d46 UTSW 2 88,170,092 (GRCm39) missense possibly damaging 0.94
R5196:Or5d46 UTSW 2 88,170,092 (GRCm39) missense possibly damaging 0.94
R5331:Or5d46 UTSW 2 88,170,332 (GRCm39) missense probably damaging 1.00
R5579:Or5d46 UTSW 2 88,170,757 (GRCm39) missense possibly damaging 0.83
R6283:Or5d46 UTSW 2 88,170,002 (GRCm39) missense probably benign 0.33
R8155:Or5d46 UTSW 2 88,170,296 (GRCm39) missense probably damaging 0.98
R8904:Or5d46 UTSW 2 88,169,949 (GRCm39) missense possibly damaging 0.82
R9094:Or5d46 UTSW 2 88,170,248 (GRCm39) missense probably benign 0.00
R9443:Or5d46 UTSW 2 88,170,364 (GRCm39) missense probably damaging 1.00
R9598:Or5d46 UTSW 2 88,170,821 (GRCm39) missense possibly damaging 0.88
R9719:Or5d46 UTSW 2 88,169,928 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TATGTCTCAGAAGCTCTGTGC -3'
(R):5'- GGATTAAGCATAGGGATAACCATACTG -3'

Sequencing Primer
(F):5'- CTAGTAACTGGAACTTACCTATGGGG -3'
(R):5'- GCATAGGGATAACCATACTGTAAAAC -3'
Posted On 2018-07-24