Incidental Mutation 'R6542:Or1ab2'
ID 520844
Institutional Source Beutler Lab
Gene Symbol Or1ab2
Ensembl Gene ENSMUSG00000046881
Gene Name olfactory receptor family 1 subfamily AB member 2
Synonyms MOR130-1, Olfr374, GA_x6K02T2NUPS-241490-242431
MMRRC Submission 044668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R6542 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 72860884-72864353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72863715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 102 (F102L)
Ref Sequence ENSEMBL: ENSMUSP00000147605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209675] [ENSMUST00000210435]
AlphaFold Q7TRY0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157835
Predicted Effect probably damaging
Transcript: ENSMUST00000209675
AA Change: F102L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000210435
AA Change: F102L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210923
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (47/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,030,902 (GRCm39) L566Q probably damaging Het
Apbb1ip C T 2: 22,764,972 (GRCm39) T551I probably benign Het
Aqp5 A G 15: 99,492,143 (GRCm39) E247G probably damaging Het
Bdkrb1 T C 12: 105,571,352 (GRCm39) F306S probably damaging Het
Clca3a1 C T 3: 144,465,021 (GRCm39) V71I probably benign Het
Cog4 A G 8: 111,577,994 (GRCm39) D36G probably damaging Het
Ctbp1 A G 5: 33,426,915 (GRCm39) probably benign Het
Dync1li2 C T 8: 105,169,396 (GRCm39) G13D probably benign Het
F5 T C 1: 164,022,037 (GRCm39) V1504A probably benign Het
Fancm T C 12: 65,144,203 (GRCm39) L555P probably damaging Het
Fgfr2 A T 7: 129,802,853 (GRCm39) S152T probably benign Het
Fign A T 2: 63,810,639 (GRCm39) H210Q possibly damaging Het
Hbs1l A G 10: 21,180,516 (GRCm39) N66S probably benign Het
Ighv12-3 A T 12: 114,330,435 (GRCm39) M20K probably benign Het
Isoc2b T C 7: 4,854,454 (GRCm39) K26E probably damaging Het
Katnal1 C T 5: 148,813,016 (GRCm39) A467T probably benign Het
Loxl3 A G 6: 83,025,147 (GRCm39) T292A probably benign Het
Map3k9 A G 12: 81,769,028 (GRCm39) S1007P possibly damaging Het
Mcur1 A T 13: 43,705,134 (GRCm39) V174D probably damaging Het
Metrnl A C 11: 121,593,704 (GRCm39) probably null Het
Midn A G 10: 79,992,418 (GRCm39) D490G probably damaging Het
Mmp10 G A 9: 7,506,513 (GRCm39) A330T probably benign Het
Mto1 T A 9: 78,364,510 (GRCm39) C281S possibly damaging Het
Nek10 A G 14: 14,999,108 (GRCm38) I1036V probably benign Het
Odad1 G T 7: 45,597,814 (GRCm39) A575S probably benign Het
Or13c7c A C 4: 43,835,686 (GRCm39) L268R probably benign Het
Or2b7 T C 13: 21,739,677 (GRCm39) T172A probably damaging Het
Or8b48 C A 9: 38,450,733 (GRCm39) L181I probably benign Het
Parp4 A C 14: 56,885,339 (GRCm39) I1473L unknown Het
Pcdhb9 A G 18: 37,534,642 (GRCm39) Y212C probably damaging Het
Pilra G T 5: 137,820,237 (GRCm39) probably null Het
Pkhd1 A G 1: 20,655,927 (GRCm39) I202T probably benign Het
Ppfia2 A T 10: 106,671,586 (GRCm39) E432D probably damaging Het
Prom1 T C 5: 44,194,851 (GRCm39) D298G possibly damaging Het
Prr22 T A 17: 57,077,527 (GRCm39) probably null Het
Septin2 T A 1: 93,425,188 (GRCm39) probably null Het
Setdb1 C A 3: 95,247,618 (GRCm39) V426L probably damaging Het
Slc8b1 C T 5: 120,667,582 (GRCm39) A405V probably damaging Het
Srrm1 G A 4: 135,068,237 (GRCm39) R279* probably null Het
Ssh2 C G 11: 77,340,976 (GRCm39) D709E possibly damaging Het
Tmprss9 A G 10: 80,724,389 (GRCm39) D373G probably damaging Het
Trpm3 T C 19: 22,903,477 (GRCm39) L921S probably benign Het
Ubqln3 T C 7: 103,790,824 (GRCm39) N422S probably benign Het
Vmn2r105 C T 17: 20,448,803 (GRCm39) V125I probably benign Het
Vmn2r69 A T 7: 85,060,413 (GRCm39) Y390* probably null Het
Zcwpw1 T C 5: 137,810,282 (GRCm39) F353L probably damaging Het
Zfp462 G A 4: 55,023,433 (GRCm39) C987Y probably damaging Het
Zkscan4 A G 13: 21,668,508 (GRCm39) S320G probably damaging Het
Other mutations in Or1ab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03022:Or1ab2 APN 8 72,863,968 (GRCm39) missense probably damaging 0.99
IGL03059:Or1ab2 APN 8 72,863,842 (GRCm39) missense probably damaging 1.00
R1662:Or1ab2 UTSW 8 72,863,623 (GRCm39) missense probably benign 0.09
R1977:Or1ab2 UTSW 8 72,863,698 (GRCm39) missense probably benign 0.41
R3965:Or1ab2 UTSW 8 72,864,108 (GRCm39) missense probably damaging 1.00
R4577:Or1ab2 UTSW 8 72,864,167 (GRCm39) nonsense probably null
R4702:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4703:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4705:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4909:Or1ab2 UTSW 8 72,863,425 (GRCm39) missense probably damaging 1.00
R6867:Or1ab2 UTSW 8 72,863,707 (GRCm39) missense possibly damaging 0.90
R7094:Or1ab2 UTSW 8 72,863,347 (GRCm39) intron probably benign
R7148:Or1ab2 UTSW 8 72,864,001 (GRCm39) missense possibly damaging 0.50
R8162:Or1ab2 UTSW 8 72,864,253 (GRCm39) missense noncoding transcript
R8224:Or1ab2 UTSW 8 72,864,223 (GRCm39) missense noncoding transcript
R8904:Or1ab2 UTSW 8 72,864,276 (GRCm39) missense probably damaging 1.00
R9130:Or1ab2 UTSW 8 72,863,697 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCTTCCTGAGCATGTACC -3'
(R):5'- TCAGAAGGACTGTGTGGGTC -3'

Sequencing Primer
(F):5'- GAGCATGTACCTTCTCACAGG -3'
(R):5'- TCAGGGCATTTGCAAAGGCTG -3'
Posted On 2018-06-06