Incidental Mutation 'R6596:Or5d38'
ID 525950
Institutional Source Beutler Lab
Gene Symbol Or5d38
Ensembl Gene ENSMUSG00000101078
Gene Name olfactory receptor family 5 subfamily D member 38
Synonyms GA_x6K02T2Q125-49616865-49615915, MOR174-6, Olfr1166
MMRRC Submission 044720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 87953704-87955337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87954543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 262 (C262Y)
Ref Sequence ENSEMBL: ENSMUSP00000149099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099833] [ENSMUST00000217575]
AlphaFold Q7TR27
Predicted Effect probably damaging
Transcript: ENSMUST00000099833
AA Change: C262Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097421
Gene: ENSMUSG00000101078
AA Change: C262Y

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 6e-51 PFAM
Pfam:7tm_1 43 292 3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217575
AA Change: C262Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,819,984 (GRCm39) C135S possibly damaging Het
Bag4 C T 8: 26,259,528 (GRCm39) D224N probably damaging Het
Cldn15 T A 5: 137,003,533 (GRCm39) C178* probably null Het
Col7a1 C A 9: 108,783,409 (GRCm39) probably benign Het
Crnn G A 3: 93,054,182 (GRCm39) E22K probably damaging Het
Dcstamp A C 15: 39,617,605 (GRCm39) T5P possibly damaging Het
Dennd4a A G 9: 64,759,702 (GRCm39) Y269C probably damaging Het
Dsg1c T A 18: 20,403,581 (GRCm39) probably null Het
Duox2 C T 2: 122,115,819 (GRCm39) V972I probably benign Het
Eif1ad15 C A 12: 88,288,057 (GRCm39) L65F possibly damaging Het
Ephb1 A C 9: 102,072,001 (GRCm39) Y259* probably null Het
Fam149a G T 8: 45,834,667 (GRCm39) T44K probably benign Het
Fn1 A G 1: 71,648,641 (GRCm39) Y1423H probably damaging Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gfm2 C T 13: 97,301,657 (GRCm39) P487S probably damaging Het
Hyou1 A G 9: 44,299,052 (GRCm39) E625G probably benign Het
Kmt5a G A 5: 124,588,759 (GRCm39) V121M probably benign Het
Mindy4 T C 6: 55,201,001 (GRCm39) S229P probably damaging Het
Muc16 T C 9: 18,478,011 (GRCm39) D7098G probably benign Het
Nsf A T 11: 103,801,283 (GRCm39) I244N probably damaging Het
Obox1 C T 7: 15,289,301 (GRCm39) S72L probably damaging Het
Or4b1 T A 2: 89,979,622 (GRCm39) T243S possibly damaging Het
Pcdhb7 A T 18: 37,476,414 (GRCm39) I517F probably damaging Het
Plk2 C T 13: 110,534,296 (GRCm39) A292V probably benign Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rasgrf1 A T 9: 89,894,847 (GRCm39) N1089I possibly damaging Het
Robo2 T A 16: 73,767,996 (GRCm39) N603Y probably damaging Het
Slc35f4 G A 14: 49,763,057 (GRCm39) A5V probably damaging Het
Smc4 A T 3: 68,933,226 (GRCm39) I616F probably damaging Het
Sorl1 T G 9: 41,912,899 (GRCm39) N1361H possibly damaging Het
Syngr1 C T 15: 79,995,893 (GRCm39) T144M probably damaging Het
Tbc1d16 A C 11: 119,048,601 (GRCm39) W351G probably damaging Het
Tbx15 A G 3: 99,259,508 (GRCm39) S460G probably benign Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Tpte T C 8: 22,823,285 (GRCm39) L304P probably damaging Het
Tubgcp5 T A 7: 55,456,382 (GRCm39) F325I probably benign Het
Ucp3 A T 7: 100,131,140 (GRCm39) I198F probably benign Het
Vit T C 17: 78,930,274 (GRCm39) V413A probably benign Het
Xrcc6 T C 15: 81,907,155 (GRCm39) M1T probably null Het
Other mutations in Or5d38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Or5d38 APN 2 87,955,023 (GRCm39) missense probably damaging 1.00
R1037:Or5d38 UTSW 2 87,954,573 (GRCm39) missense probably damaging 0.97
R1452:Or5d38 UTSW 2 87,954,655 (GRCm39) missense probably benign 0.01
R1842:Or5d38 UTSW 2 87,954,471 (GRCm39) missense probably damaging 1.00
R2005:Or5d38 UTSW 2 87,954,891 (GRCm39) missense probably damaging 1.00
R4106:Or5d38 UTSW 2 87,954,817 (GRCm39) missense possibly damaging 0.67
R4930:Or5d38 UTSW 2 87,954,684 (GRCm39) missense probably benign 0.08
R5473:Or5d38 UTSW 2 87,954,981 (GRCm39) missense possibly damaging 0.94
R5911:Or5d38 UTSW 2 87,955,027 (GRCm39) missense probably benign
R7842:Or5d38 UTSW 2 87,955,330 (GRCm39) start gained probably benign
R8902:Or5d38 UTSW 2 87,954,778 (GRCm39) missense probably damaging 1.00
R8943:Or5d38 UTSW 2 87,954,718 (GRCm39) missense probably damaging 0.98
R9120:Or5d38 UTSW 2 87,955,123 (GRCm39) missense probably damaging 1.00
R9240:Or5d38 UTSW 2 87,955,231 (GRCm39) missense probably benign 0.26
R9733:Or5d38 UTSW 2 87,955,000 (GRCm39) missense probably damaging 0.99
R9783:Or5d38 UTSW 2 87,954,610 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GTGCCTATATCTGAGTCTTGCC -3'
(R):5'- GAGTACTCCGCTGTCATCTCTG -3'

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