Incidental Mutation 'R8400:Olfr43'
ID 647828
Institutional Source Beutler Lab
Gene Symbol Olfr43
Ensembl Gene ENSMUSG00000070377
Gene Name olfactory receptor 43
Synonyms MOR125-1, GA_x6K02T2P1NL-4359899-4358958
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R8400 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 74205664-74211379 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74206395 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 274 (V274M)
Ref Sequence ENSEMBL: ENSMUSP00000145822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078936] [ENSMUST00000205664] [ENSMUST00000206743] [ENSMUST00000215550]
AlphaFold Q7TRX1
Predicted Effect possibly damaging
Transcript: ENSMUST00000078936
AA Change: V274M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077966
Gene: ENSMUSG00000070377
AA Change: V274M

Pfam:7tm_4 31 305 5.5e-59 PFAM
Pfam:7tm_1 41 238 5.9e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205664
AA Change: V274M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000206743
Predicted Effect possibly damaging
Transcript: ENSMUST00000215550
AA Change: V274M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,293,925 M1929I probably benign Het
Abca13 T C 11: 9,298,218 I2655T probably damaging Het
Acad10 A G 5: 121,626,205 V887A possibly damaging Het
Acot10 T C 15: 20,666,172 E161G possibly damaging Het
Astn1 C T 1: 158,657,100 P919L probably benign Het
Atp1a4 T A 1: 172,234,494 D688V probably damaging Het
C4bp C A 1: 130,636,747 C400F probably damaging Het
Col6a6 A C 9: 105,774,796 D1005E probably damaging Het
Csnk1g3 C T 18: 53,953,288 R422C probably benign Het
Cutc T C 19: 43,753,205 S15P probably benign Het
Dgkb T C 12: 38,602,838 probably null Het
Disc1 T C 8: 125,232,993 V748A probably benign Het
Dmbt1 C G 7: 131,082,587 D778E unknown Het
Dmxl2 T C 9: 54,383,753 Y2471C probably benign Het
Fam185a T A 5: 21,438,816 N243K probably benign Het
Fchsd2 A T 7: 101,253,573 Q386L possibly damaging Het
Gm904 C A 13: 50,643,417 P49Q probably damaging Het
H2-Q10 C T 17: 35,470,477 R59C probably damaging Het
Ier5l A G 2: 30,473,093 Y307H possibly damaging Het
Kmt2e C A 5: 23,497,092 T906K probably benign Het
Kndc1 C T 7: 139,913,518 R467W probably damaging Het
Muc5ac C A 7: 141,810,476 T2508K probably damaging Het
Nlrp9a A T 7: 26,565,006 M784L probably benign Het
Nlrp9b T A 7: 20,024,012 C391* probably null Het
Nubp2 A C 17: 24,884,465 M146R probably damaging Het
Olfr1295 A T 2: 111,565,402 L14H probably damaging Het
Olfr1359 G A 13: 21,703,915 V305M probably benign Het
Olfr1419 T A 19: 11,871,214 M1L probably damaging Het
Olfr694 T A 7: 106,689,669 S21C probably benign Het
Olfr857 A T 9: 19,713,093 N89Y probably benign Het
Otud1 T C 2: 19,658,378 V106A possibly damaging Het
Pcdhac1 T A 18: 37,092,400 Y755* probably null Het
Pkd1l3 C T 8: 109,623,888 P455L possibly damaging Het
Samhd1 T C 2: 157,099,433 E648G probably benign Het
Smarca5 T C 8: 80,709,127 T794A probably benign Het
Spc24 A T 9: 21,757,730 L87H probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,866,069 probably null Het
Stra6l G A 4: 45,864,905 R77Q probably damaging Het
Tdrd1 G A 19: 56,848,649 V472M probably benign Het
Tsc2 A T 17: 24,604,987 I948K possibly damaging Het
Ttc39d T C 17: 80,216,005 V31A probably benign Het
Vmn1r158 A T 7: 22,789,880 C301* probably null Het
Vmn2r22 A T 6: 123,637,527 L368* probably null Het
Vmn2r79 A G 7: 87,002,100 T236A probably benign Het
Vwa1 T C 4: 155,772,768 H191R probably benign Het
Zdbf2 T A 1: 63,304,976 V838E possibly damaging Het
Other mutations in Olfr43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Olfr43 APN 11 74206655 missense probably damaging 1.00
IGL03014:Olfr43 UTSW 11 74206827 missense probably damaging 1.00
R1005:Olfr43 UTSW 11 74207136 missense probably benign 0.03
R1056:Olfr43 UTSW 11 74206782 missense probably benign 0.02
R1772:Olfr43 UTSW 11 74206572 missense probably benign 0.00
R4611:Olfr43 UTSW 11 74206535 missense possibly damaging 0.68
R4826:Olfr43 UTSW 11 74206331 missense possibly damaging 0.91
R5524:Olfr43 UTSW 11 74206583 missense probably damaging 1.00
R6174:Olfr43 UTSW 11 74206640 missense probably damaging 0.97
R9101:Olfr43 UTSW 11 74206496 missense probably damaging 1.00
R9335:Olfr43 UTSW 11 74207006 missense probably damaging 1.00
R9348:Olfr43 UTSW 11 74206463 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-02