Incidental Mutation 'R6487:Or5d41'
ID 517466
Institutional Source Beutler Lab
Gene Symbol Or5d41
Ensembl Gene ENSMUSG00000075133
Gene Name olfactory receptor family 5 subfamily D member 41
Synonyms Olfr1170, MOR174-12, GA_x6K02T2Q125-49709783-49708833
MMRRC Submission 044619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6487 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88054424-88055374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88054870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 169 (S169P)
Ref Sequence ENSEMBL: ENSMUSP00000150142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099831] [ENSMUST00000214386]
AlphaFold Q8VFG1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099831
AA Change: S169P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097419
Gene: ENSMUSG00000075133
AA Change: S169P

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 1.2e-49 PFAM
Pfam:7tm_1 43 292 4.4e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214386
AA Change: S169P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,446 (GRCm39) Y963H possibly damaging Het
Alpk2 T C 18: 65,399,254 (GRCm39) N2108S possibly damaging Het
Atp13a1 T C 8: 70,252,528 (GRCm39) S641P probably damaging Het
Bptf C T 11: 106,968,552 (GRCm39) V981I probably damaging Het
Cntrl A T 2: 35,012,694 (GRCm39) K277N possibly damaging Het
Cops5 T C 1: 10,108,004 (GRCm39) T12A probably benign Het
Cyp2c37 A T 19: 39,983,025 (GRCm39) T205S probably benign Het
Dnah7c T C 1: 46,808,284 (GRCm39) V3485A probably damaging Het
Ifna6 A T 4: 88,745,743 (GRCm39) N31Y probably damaging Het
Irgm1 C A 11: 48,756,777 (GRCm39) A345S probably benign Het
Kics2 T C 10: 121,581,446 (GRCm39) L13P probably damaging Het
Med13 T C 11: 86,221,976 (GRCm39) T218A probably damaging Het
Mroh2b G T 15: 4,976,721 (GRCm39) D1225Y probably damaging Het
Npepl1 A G 2: 173,953,525 (GRCm39) E152G probably benign Het
Oog2 A G 4: 143,923,055 (GRCm39) E440G possibly damaging Het
Or4c35 A T 2: 89,808,182 (GRCm39) D20V probably benign Het
Or4k38 T C 2: 111,166,012 (GRCm39) D137G probably benign Het
Or5h26 A T 16: 58,988,536 (GRCm39) probably null Het
Or8b54 A G 9: 38,686,731 (GRCm39) Y60C probably damaging Het
Ranbp2 T C 10: 58,321,563 (GRCm39) V2620A probably benign Het
Rims4 A T 2: 163,706,817 (GRCm39) F187Y possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Shisa9 C T 16: 12,062,475 (GRCm39) T232I probably benign Het
Slf1 A T 13: 77,214,736 (GRCm39) I650N probably damaging Het
Tpst2 T C 5: 112,455,989 (GRCm39) L176P probably damaging Het
U2surp A T 9: 95,359,565 (GRCm39) M650K probably damaging Het
Vmn1r17 A T 6: 57,338,209 (GRCm39) M3K possibly damaging Het
Vmn1r55 A G 7: 5,149,554 (GRCm39) S290P probably benign Het
Vmn2r102 G A 17: 19,898,169 (GRCm39) E395K probably damaging Het
Wapl T A 14: 34,414,249 (GRCm39) H370Q probably damaging Het
Xab2 T C 8: 3,663,879 (GRCm39) S347G possibly damaging Het
Other mutations in Or5d41
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0184:Or5d41 UTSW 2 88,055,124 (GRCm39) nonsense probably null
R0496:Or5d41 UTSW 2 88,054,499 (GRCm39) nonsense probably null
R0558:Or5d41 UTSW 2 88,054,818 (GRCm39) missense possibly damaging 0.50
R2067:Or5d41 UTSW 2 88,054,818 (GRCm39) missense possibly damaging 0.50
R2111:Or5d41 UTSW 2 88,054,818 (GRCm39) missense possibly damaging 0.50
R2273:Or5d41 UTSW 2 88,055,167 (GRCm39) missense probably benign 0.03
R2274:Or5d41 UTSW 2 88,055,167 (GRCm39) missense probably benign 0.03
R2275:Or5d41 UTSW 2 88,055,167 (GRCm39) missense probably benign 0.03
R5924:Or5d41 UTSW 2 88,054,891 (GRCm39) missense probably benign
R5942:Or5d41 UTSW 2 88,054,916 (GRCm39) missense probably benign 0.03
R7399:Or5d41 UTSW 2 88,055,366 (GRCm39) nonsense probably null
R7776:Or5d41 UTSW 2 88,054,429 (GRCm39) missense probably damaging 0.99
R7961:Or5d41 UTSW 2 88,055,033 (GRCm39) missense possibly damaging 0.91
X0022:Or5d41 UTSW 2 88,055,325 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TGACAACTATGAACACATATGAGGC -3'
(R):5'- ACCCAAACTTTTGCAGATCTTGATC -3'

Sequencing Primer
(F):5'- TGAACACATATGAGGCTAAAGTGATC -3'
(R):5'- CTTTTGCAGATCTTGATCATGGAAG -3'
Posted On 2018-05-21