Incidental Mutation 'R5235:Or5d40'
ID 398267
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 042807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88015223-88016161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88015912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 230 (D230E)
Ref Sequence ENSEMBL: ENSMUSP00000149517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079599] [ENSMUST00000215996]
AlphaFold Q7TR25
Predicted Effect probably benign
Transcript: ENSMUST00000079599
AA Change: D230E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078549
Gene: ENSMUSG00000061342
AA Change: D230E

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2e-47 PFAM
Pfam:7tm_1 39 288 1.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215996
AA Change: D230E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null 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
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
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'- CTGGCATCATTGATCACTTTGG -3'
(R):5'- GATGAGCCTCTTGACTGTCTC -3'

Sequencing Primer
(F):5'- GATCACTTTGGCTGTGAATATTCAG -3'
(R):5'- ACATCTTTGTTCCTTAGGCTGTAG -3'
Posted On 2016-07-06