Incidental Mutation 'R0467:Or51a43'
ID 41694
Institutional Source Beutler Lab
Gene Symbol Or51a43
Ensembl Gene ENSMUSG00000110012
Gene Name olfactory receptor family 51 subfamily A member 43
Synonyms Olfr644, MOR13-1, GA_x6K02T2PBJ9-6803062-6802118
MMRRC Submission 038667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R0467 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103717292-103718236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103717332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 302 (R302H)
Ref Sequence ENSEMBL: ENSMUSP00000149600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077417] [ENSMUST00000138055] [ENSMUST00000213184] [ENSMUST00000213991]
AlphaFold Q8VH21
Predicted Effect probably benign
Transcript: ENSMUST00000077417
AA Change: R302H

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: R302H

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2e-122 PFAM
Pfam:7TM_GPCR_Srsx 37 256 5.9e-8 PFAM
Pfam:7tm_1 43 294 1.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213184
AA Change: R302H

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000213991
AA Change: R302H

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.1343 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,532,151 (GRCm39) probably benign Het
Anapc1 A G 2: 128,510,963 (GRCm39) I511T probably damaging Het
Atf6 A T 1: 170,621,589 (GRCm39) H477Q probably damaging Het
C4b A G 17: 34,955,101 (GRCm39) V795A probably benign Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cdk12 T C 11: 98,094,405 (GRCm39) V71A probably damaging Het
Cul3 A T 1: 80,258,580 (GRCm39) D419E probably benign Het
Ddi2 A G 4: 141,412,495 (GRCm39) I139T probably benign Het
Dnaaf1 T A 8: 120,317,471 (GRCm39) D333E probably benign Het
Dnase1 A G 16: 3,857,013 (GRCm39) D7G probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Galc A C 12: 98,208,904 (GRCm39) I250R probably damaging Het
Garin1b G A 6: 29,326,606 (GRCm39) S241N probably damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm6133 A C 18: 78,393,305 (GRCm39) S100R probably benign Het
Iba57 T C 11: 59,054,265 (GRCm39) T85A probably benign Het
Ipo4 A T 14: 55,872,983 (GRCm39) M1K probably null Het
Ippk A G 13: 49,584,341 (GRCm39) probably null Het
Kcnk10 A T 12: 98,456,204 (GRCm39) I209N probably benign Het
Klk14 T C 7: 43,343,534 (GRCm39) L122P probably benign Het
Ltbp1 T A 17: 75,589,424 (GRCm39) probably null Het
Mab21l4 A T 1: 93,080,766 (GRCm39) I380N probably damaging Het
Mcm3 T C 1: 20,875,071 (GRCm39) D737G probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nalcn T A 14: 123,528,459 (GRCm39) T1456S probably benign Het
Nckap1l C T 15: 103,405,854 (GRCm39) P1097S probably benign Het
Ncoa1 A G 12: 4,317,687 (GRCm39) M1215T possibly damaging Het
Nomo1 T A 7: 45,721,911 (GRCm39) probably null Het
Obox5 T A 7: 15,491,932 (GRCm39) C116S possibly damaging Het
Or2ag2b T A 7: 106,417,568 (GRCm39) S93T possibly damaging Het
Or5a1 C A 19: 12,097,900 (GRCm39) A59S probably benign Het
Pcdhb14 G T 18: 37,582,277 (GRCm39) R461L probably damaging Het
Pdgfra A G 5: 75,355,697 (GRCm39) D1069G probably damaging Het
Pgr C T 9: 8,900,779 (GRCm39) A104V possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Potegl A G 2: 23,102,832 (GRCm39) E190G possibly damaging Het
Rassf3 A G 10: 121,253,109 (GRCm39) probably benign Het
Rgs22 G T 15: 36,099,941 (GRCm39) S258* probably null Het
Rsph6a C A 7: 18,791,594 (GRCm39) D254E possibly damaging Het
Sgk1 A G 10: 21,872,257 (GRCm39) probably benign Het
Shcbp1l G A 1: 153,308,928 (GRCm39) C174Y probably damaging Het
Spata31g1 T C 4: 42,972,715 (GRCm39) S683P probably benign Het
Sulf1 T A 1: 12,867,144 (GRCm39) N109K probably damaging Het
Taf7l2 G A 10: 115,949,058 (GRCm39) A156V probably benign Het
Tas2r115 T A 6: 132,714,682 (GRCm39) I90L probably benign Het
Tmem200a T C 10: 25,870,002 (GRCm39) H89R probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Xrn1 T C 9: 95,906,244 (GRCm39) S1212P probably damaging Het
Zfp408 T C 2: 91,475,882 (GRCm39) Y424C possibly damaging Het
Other mutations in Or51a43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01614:Or51a43 APN 7 103,717,576 (GRCm39) missense probably benign 0.00
IGL02937:Or51a43 APN 7 103,718,056 (GRCm39) missense probably damaging 0.99
IGL03188:Or51a43 APN 7 103,717,945 (GRCm39) missense possibly damaging 0.89
FR4737:Or51a43 UTSW 7 103,720,499 (GRCm39) start gained probably benign
R1310:Or51a43 UTSW 7 103,717,805 (GRCm39) missense probably benign
R1457:Or51a43 UTSW 7 103,717,666 (GRCm39) missense probably damaging 1.00
R1619:Or51a43 UTSW 7 103,717,738 (GRCm39) missense probably damaging 1.00
R1874:Or51a43 UTSW 7 103,717,336 (GRCm39) missense probably null 1.00
R2428:Or51a43 UTSW 7 103,717,675 (GRCm39) nonsense probably null
R2922:Or51a43 UTSW 7 103,717,794 (GRCm39) missense probably benign 0.09
R2923:Or51a43 UTSW 7 103,717,794 (GRCm39) missense probably benign 0.09
R3929:Or51a43 UTSW 7 103,717,791 (GRCm39) missense probably benign 0.06
R4500:Or51a43 UTSW 7 103,717,402 (GRCm39) missense probably damaging 1.00
R5035:Or51a43 UTSW 7 103,717,614 (GRCm39) missense possibly damaging 0.95
R5303:Or51a43 UTSW 7 103,718,239 (GRCm39) utr 5 prime probably benign
R5464:Or51a43 UTSW 7 103,717,674 (GRCm39) missense possibly damaging 0.72
R5722:Or51a43 UTSW 7 103,717,930 (GRCm39) missense probably damaging 1.00
R5742:Or51a43 UTSW 7 103,717,412 (GRCm39) missense probably damaging 0.97
R6874:Or51a43 UTSW 7 103,717,396 (GRCm39) missense possibly damaging 0.50
R6940:Or51a43 UTSW 7 103,717,620 (GRCm39) missense possibly damaging 0.82
R7848:Or51a43 UTSW 7 103,717,302 (GRCm39) missense probably benign
R8343:Or51a43 UTSW 7 103,717,383 (GRCm39) missense probably damaging 1.00
R8714:Or51a43 UTSW 7 103,717,483 (GRCm39) missense probably damaging 0.97
R8866:Or51a43 UTSW 7 103,718,119 (GRCm39) missense probably damaging 0.99
R8909:Or51a43 UTSW 7 103,718,032 (GRCm39) missense probably damaging 1.00
R8966:Or51a43 UTSW 7 103,718,139 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATCACAGTGCTAAGGTCAAAGATCA -3'
(R):5'- CTTTGGGCTGGATTCTGCACTCAT -3'

Sequencing Primer
(F):5'- GTGCTAAGGTCAAAGATCAAAATAAG -3'
(R):5'- GCTCAGTGCTTGCTATTGC -3'
Posted On 2013-05-23