Incidental Mutation 'R6608:Or5d40'
ID 526412
Institutional Source Beutler Lab
Gene Symbol Or5d40
Ensembl Gene ENSMUSG00000061342
Gene Name olfactory receptor family 5 subfamily D member 40
Synonyms Olfr1168, MOR174-13, GA_x6K02T2Q125-49669483-49670421
MMRRC Submission 044731-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6608 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88015223-88016161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88016049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 276 (Y276C)
Ref Sequence ENSEMBL: ENSMUSP00000149517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079599] [ENSMUST00000215996]
AlphaFold Q7TR25
Predicted Effect possibly damaging
Transcript: ENSMUST00000079599
AA Change: Y276C

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000078549
Gene: ENSMUSG00000061342
AA Change: Y276C

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2e-47 PFAM
Pfam:7tm_1 39 288 1.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215996
AA Change: Y276C

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
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
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Clns1a A G 7: 97,365,675 (GRCm39) T226A probably benign Het
Col18a1 C T 10: 76,948,628 (GRCm39) probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dmgdh G A 13: 93,843,252 (GRCm39) G363S possibly damaging Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Man1b1 T A 2: 25,233,263 (GRCm39) V212E probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rbm26 T A 14: 105,389,934 (GRCm39) N230I probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Stard7 A T 2: 127,132,715 (GRCm39) K194N probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Usp10 C T 8: 120,675,161 (GRCm39) R461W probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L probably damaging Het
Other mutations in Or5d40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Or5d40 APN 2 88,015,629 (GRCm39) missense probably benign 0.05
R0079:Or5d40 UTSW 2 88,015,698 (GRCm39) missense possibly damaging 0.94
R0302:Or5d40 UTSW 2 88,015,854 (GRCm39) missense possibly damaging 0.95
R0606:Or5d40 UTSW 2 88,015,624 (GRCm39) missense possibly damaging 0.70
R0973:Or5d40 UTSW 2 88,015,322 (GRCm39) missense probably benign 0.07
R0973:Or5d40 UTSW 2 88,015,322 (GRCm39) missense probably benign 0.07
R0974:Or5d40 UTSW 2 88,015,322 (GRCm39) missense probably benign 0.07
R2140:Or5d40 UTSW 2 88,015,439 (GRCm39) missense probably benign 0.14
R2261:Or5d40 UTSW 2 88,015,965 (GRCm39) missense probably damaging 1.00
R5235:Or5d40 UTSW 2 88,015,912 (GRCm39) missense probably benign
R7323:Or5d40 UTSW 2 88,015,952 (GRCm39) missense possibly damaging 0.90
R7476:Or5d40 UTSW 2 88,015,310 (GRCm39) missense probably benign
R7951:Or5d40 UTSW 2 88,015,616 (GRCm39) missense probably damaging 0.98
R8744:Or5d40 UTSW 2 88,015,723 (GRCm39) nonsense probably null
R9751:Or5d40 UTSW 2 88,015,260 (GRCm39) missense possibly damaging 0.88
Z1176:Or5d40 UTSW 2 88,015,415 (GRCm39) missense probably damaging 1.00
Z1177:Or5d40 UTSW 2 88,015,281 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGTTGTCACAATCATCAAGATGC -3'
(R):5'- TGAGCTTGAATCAGAGTACAGAAC -3'

Sequencing Primer
(F):5'- GATGCCTTCTAAAGATGGACTCAG -3'
(R):5'- GCTTGAATCAGAGTACAGAACATTTG -3'
Posted On 2018-06-25