Incidental Mutation 'R8400:Or1a1b'
ID 647828
Institutional Source Beutler Lab
Gene Symbol Or1a1b
Ensembl Gene ENSMUSG00000070377
Gene Name olfactory receptor family 1 subfamily A member 1B
Synonyms Olfr43, GA_x6K02T2P1NL-4359899-4358958, MOR125-1
MMRRC Submission 067763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R8400 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 74097024-74098115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74097221 bp (GRCm39)
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

DomainStartEndE-ValueType
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: 9,243,925 (GRCm39) M1929I probably benign Het
Abca13 T C 11: 9,248,218 (GRCm39) I2655T probably damaging Het
Acad10 A G 5: 121,764,268 (GRCm39) V887A possibly damaging Het
Acot10 T C 15: 20,666,258 (GRCm39) E161G possibly damaging Het
Astn1 C T 1: 158,484,670 (GRCm39) P919L probably benign Het
Atp1a4 T A 1: 172,062,061 (GRCm39) D688V probably damaging Het
C4bp C A 1: 130,564,484 (GRCm39) C400F probably damaging Het
Col6a6 A C 9: 105,651,995 (GRCm39) D1005E probably damaging Het
Csnk1g3 C T 18: 54,086,360 (GRCm39) R422C probably benign Het
Cutc T C 19: 43,741,644 (GRCm39) S15P probably benign Het
Dgkb T C 12: 38,652,837 (GRCm39) probably null Het
Disc1 T C 8: 125,959,732 (GRCm39) V748A probably benign Het
Dmbt1 C G 7: 130,684,317 (GRCm39) D778E unknown Het
Dmxl2 T C 9: 54,291,037 (GRCm39) Y2471C probably benign Het
Fam185a T A 5: 21,643,814 (GRCm39) N243K probably benign Het
Fchsd2 A T 7: 100,902,780 (GRCm39) Q386L possibly damaging Het
Gm904 C A 13: 50,797,453 (GRCm39) P49Q probably damaging Het
H2-Q10 C T 17: 35,781,374 (GRCm39) R59C probably damaging Het
Ier5l A G 2: 30,363,105 (GRCm39) Y307H possibly damaging Het
Kmt2e C A 5: 23,702,090 (GRCm39) T906K probably benign Het
Kndc1 C T 7: 139,493,434 (GRCm39) R467W probably damaging Het
Muc5ac C A 7: 141,364,213 (GRCm39) T2508K probably damaging Het
Nlrp9a A T 7: 26,264,431 (GRCm39) M784L probably benign Het
Nlrp9b T A 7: 19,757,937 (GRCm39) C391* probably null Het
Nubp2 A C 17: 25,103,439 (GRCm39) M146R probably damaging Het
Or10q3 T A 19: 11,848,578 (GRCm39) M1L probably damaging Het
Or2ag1b T A 7: 106,288,876 (GRCm39) S21C probably benign Het
Or2b2 G A 13: 21,888,085 (GRCm39) V305M probably benign Het
Or4k45 A T 2: 111,395,747 (GRCm39) L14H probably damaging Het
Or7e166 A T 9: 19,624,389 (GRCm39) N89Y probably benign Het
Otud1 T C 2: 19,663,189 (GRCm39) V106A possibly damaging Het
Pcdhac1 T A 18: 37,225,453 (GRCm39) Y755* probably null Het
Pkd1l3 C T 8: 110,350,520 (GRCm39) P455L possibly damaging Het
Ptprb GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,477 (GRCm39) probably benign Het
Samhd1 T C 2: 156,941,353 (GRCm39) E648G probably benign Het
Smarca5 T C 8: 81,435,756 (GRCm39) T794A probably benign Het
Spc24 A T 9: 21,669,026 (GRCm39) L87H probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Stra6l G A 4: 45,864,905 (GRCm39) R77Q probably damaging Het
Tdrd1 G A 19: 56,837,081 (GRCm39) V472M probably benign Het
Tsc2 A T 17: 24,823,961 (GRCm39) I948K possibly damaging Het
Ttc39d T C 17: 80,523,434 (GRCm39) V31A probably benign Het
Vmn1r158 A T 7: 22,489,305 (GRCm39) C301* probably null Het
Vmn2r22 A T 6: 123,614,486 (GRCm39) L368* probably null Het
Vmn2r79 A G 7: 86,651,308 (GRCm39) T236A probably benign Het
Vwa1 T C 4: 155,857,225 (GRCm39) H191R probably benign Het
Zdbf2 T A 1: 63,344,135 (GRCm39) V838E possibly damaging Het
Other mutations in Or1a1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Or1a1b APN 11 74,097,481 (GRCm39) missense probably damaging 1.00
IGL03014:Or1a1b UTSW 11 74,097,653 (GRCm39) missense probably damaging 1.00
R1005:Or1a1b UTSW 11 74,097,962 (GRCm39) missense probably benign 0.03
R1056:Or1a1b UTSW 11 74,097,608 (GRCm39) missense probably benign 0.02
R1772:Or1a1b UTSW 11 74,097,398 (GRCm39) missense probably benign 0.00
R4611:Or1a1b UTSW 11 74,097,361 (GRCm39) missense possibly damaging 0.68
R4826:Or1a1b UTSW 11 74,097,157 (GRCm39) missense possibly damaging 0.91
R5524:Or1a1b UTSW 11 74,097,409 (GRCm39) missense probably damaging 1.00
R6174:Or1a1b UTSW 11 74,097,466 (GRCm39) missense probably damaging 0.97
R9101:Or1a1b UTSW 11 74,097,322 (GRCm39) missense probably damaging 1.00
R9335:Or1a1b UTSW 11 74,097,832 (GRCm39) missense probably damaging 1.00
R9348:Or1a1b UTSW 11 74,097,289 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATGACAAGCAGCTCCTTG -3'
(R):5'- CACTGCTGTGCATCATCATC -3'

Sequencing Primer
(F):5'- ACATTGAAGCTGAGTTTCCTAGTGC -3'
(R):5'- ATCATCTCCTACGTCCGGG -3'
Posted On 2020-09-02