Incidental Mutation 'R7961:Or5d41'
ID 650098
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 046005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R7961 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88054424-88055374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88055033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 114 (M114I)
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: M114I

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097419
Gene: ENSMUSG00000075133
AA Change: M114I

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: M114I

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Bckdha G A 7: 25,330,903 (GRCm39) R288W probably damaging Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Cntnap1 G A 11: 101,069,121 (GRCm39) A192T probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Engase A G 11: 118,377,686 (GRCm39) D571G possibly damaging Het
Gm45871 C T 18: 90,609,883 (GRCm39) H374Y probably damaging Het
Icam5 T C 9: 20,950,051 (GRCm39) V870A possibly damaging Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krt71 T C 15: 101,643,877 (GRCm39) I454V probably damaging Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Lpcat1 C T 13: 73,659,498 (GRCm39) T420I probably damaging Het
Mia2 T A 12: 59,206,425 (GRCm39) probably null Het
Neurod4 A T 10: 130,106,356 (GRCm39) V306D possibly damaging Het
Nkiras2 A T 11: 100,510,628 (GRCm39) probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Nubpl T A 12: 52,228,080 (GRCm39) L168* probably null Het
Odf1 A G 15: 38,226,840 (GRCm39) I247V unknown Het
Or4c35 A G 2: 89,808,131 (GRCm39) Q3R probably benign Het
Or4k48 G A 2: 111,476,282 (GRCm39) S20F probably damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Polm T C 11: 5,780,155 (GRCm39) D294G possibly damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Pramel34 T C 5: 93,784,543 (GRCm39) D307G probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgsm1 T C 5: 113,430,510 (GRCm39) T292A probably damaging Het
Smad3 G A 9: 63,557,564 (GRCm39) R420C possibly damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P probably damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trav14d-3-dv8 A C 14: 53,316,224 (GRCm39) Q28P probably damaging Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Usp25 A G 16: 76,856,150 (GRCm39) I248V probably damaging Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Zfp60 G A 7: 27,447,881 (GRCm39) G183D probably benign 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
R6487:Or5d41 UTSW 2 88,054,870 (GRCm39) missense possibly damaging 0.80
R7399:Or5d41 UTSW 2 88,055,366 (GRCm39) nonsense probably null
R7776:Or5d41 UTSW 2 88,054,429 (GRCm39) missense probably damaging 0.99
X0022:Or5d41 UTSW 2 88,055,325 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- CAGCCAAAGTGATTGATGATGC -3'
(R):5'- AACCTGGGCATACTTGTGG -3'

Sequencing Primer
(F):5'- GCCATATTCACAATAGGAGAGTTGC -3'
(R):5'- ACCTGGGCATACTTGTGGTTATAAAG -3'
Posted On 2020-09-15