Incidental Mutation 'R9751:Or5d40'
ID 732498
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R9751 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88015223-88016161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88015260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 13 (V13E)
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: V13E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078549
Gene: ENSMUSG00000061342
AA Change: V13E

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: V13E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,881,126 (GRCm39) N514D probably benign Het
Adgre1 G A 17: 57,757,101 (GRCm39) R786H probably null Het
Ankrd7 G A 6: 18,868,024 (GRCm39) V97I probably damaging Het
Bltp1 A G 3: 37,065,889 (GRCm39) I54M Het
Bmper C T 9: 23,318,009 (GRCm39) P543S possibly damaging Het
Brwd1 A T 16: 95,795,015 (GRCm39) M2233K possibly damaging Het
C1s2 G T 6: 124,602,553 (GRCm39) P553T probably damaging Het
Cachd1 G A 4: 100,823,438 (GRCm39) V497I possibly damaging Het
Cacng4 A G 11: 107,626,019 (GRCm39) S191P probably damaging Het
Cd109 C A 9: 78,605,442 (GRCm39) T1015K probably damaging Het
Clstn2 A G 9: 97,339,703 (GRCm39) L756P probably damaging Het
Crybg3 A T 16: 59,377,887 (GRCm39) D1122E possibly damaging Het
Csf2 A T 11: 54,140,420 (GRCm39) L6* probably null Het
Csnk1g2 T A 10: 80,473,745 (GRCm39) Y71N possibly damaging Het
Dlg2 C A 7: 90,564,731 (GRCm39) H116N probably benign Het
Dnah14 C T 1: 181,619,610 (GRCm39) S3978L probably damaging Het
Dpp8 C T 9: 64,960,453 (GRCm39) T328I probably null Het
Dync2i1 T A 12: 116,205,403 (GRCm39) probably null Het
Dysf T C 6: 84,163,450 (GRCm39) V1625A probably damaging Het
Efcab3 G A 11: 104,783,911 (GRCm39) G2754E probably benign Het
Egf C A 3: 129,548,538 (GRCm39) V26F probably damaging Het
Eif1ad19 T C 12: 87,740,526 (GRCm39) N11S possibly damaging Het
Fam20a T A 11: 109,565,992 (GRCm39) Y414F probably damaging Het
Fsip2 T C 2: 82,818,241 (GRCm39) I4658T probably benign Het
Hycc1 C T 5: 24,196,748 (GRCm39) E47K probably benign Het
Igflr1 A T 7: 30,266,653 (GRCm39) Q167L possibly damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Map3k6 A G 4: 132,979,168 (GRCm39) probably null Het
Mcpt4 A G 14: 56,297,511 (GRCm39) I215T probably damaging Het
Med13 T C 11: 86,189,984 (GRCm39) Y975C probably damaging Het
Meioc T A 11: 102,566,419 (GRCm39) Y678* probably null Het
Myof T C 19: 37,924,818 (GRCm39) T1190A probably benign Het
Nap1l4 A C 7: 143,088,132 (GRCm39) probably benign Het
Ncapg T C 5: 45,851,195 (GRCm39) V796A probably damaging Het
Or4c10b C T 2: 89,711,956 (GRCm39) T262I probably benign Het
Or4c119 C T 2: 88,986,782 (GRCm39) V246M possibly damaging Het
Or5d39 T A 2: 87,979,614 (GRCm39) I250L probably benign Het
Or5p68 T C 7: 107,945,645 (GRCm39) Y181C probably benign Het
Paxbp1 A G 16: 90,824,188 (GRCm39) S515P probably benign Het
Pip4p1 A G 14: 51,165,436 (GRCm39) V257A probably benign Het
Plce1 C T 19: 38,717,414 (GRCm39) S1401F probably damaging Het
Rptor A G 11: 119,777,964 (GRCm39) K1043E probably benign Het
Rtn4rl2 T G 2: 84,711,039 (GRCm39) N75T probably damaging Het
Slc35f4 A G 14: 49,536,291 (GRCm39) I448T possibly damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tas2r115 A G 6: 132,714,918 (GRCm39) I11T possibly damaging Het
Tbc1d5 A G 17: 51,181,680 (GRCm39) V351A possibly damaging Het
Trim43b A T 9: 88,971,570 (GRCm39) D195E probably benign Het
Trim65 C A 11: 116,021,564 (GRCm39) A90S probably benign Het
Trip11 C T 12: 101,850,765 (GRCm39) V1100I possibly damaging Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Ube2g2 G A 10: 77,480,307 (GRCm39) V138I probably benign 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
R6608:Or5d40 UTSW 2 88,016,049 (GRCm39) missense possibly damaging 0.49
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
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'- GAATACTCGACCATCATCTGCC -3'
(R):5'- TCTGTAATCACACATGCACAGC -3'

Sequencing Primer
(F):5'- GACCATCATCTGCCTTTGTTG -3'
(R):5'- GCCAAAGAAAAACTGTGTCATGC -3'
Posted On 2022-11-14