Incidental Mutation 'R5722:Or51a43'
ID 452263
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 043340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103717292-103718236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103717930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 103 (M103L)
Ref Sequence ENSEMBL: ENSMUSP00000149600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077417] [ENSMUST00000138055] [ENSMUST00000213184] [ENSMUST00000213991]
AlphaFold Q8VH21
Predicted Effect probably damaging
Transcript: ENSMUST00000077417
AA Change: M103L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: M103L

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 damaging
Transcript: ENSMUST00000213184
AA Change: M103L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213991
AA Change: M103L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Agtr1a A G 13: 30,566,016 (GRCm39) *360W probably null Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cndp2 T A 18: 84,686,203 (GRCm39) K461* probably null Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Irf2 A T 8: 47,271,831 (GRCm39) E101D possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Rbm46 A G 3: 82,772,640 (GRCm39) V164A possibly damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Smgc T A 15: 91,726,109 (GRCm39) S18R possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Thoc3 G T 13: 54,608,014 (GRCm39) T310N probably damaging Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Ugt2b36 C T 5: 87,240,297 (GRCm39) W29* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null 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
R0467:Or51a43 UTSW 7 103,717,332 (GRCm39) missense probably benign 0.07
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
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'- GGCAACCTCTTCAGAAGGAAAG -3'
(R):5'- TTTACAGCGTCTCCATAGTGG -3'

Sequencing Primer
(F):5'- CAACCTCTTCAGAAGGAAAGGTAATG -3'
(R):5'- TCTCCATAGTGGGCAATGC -3'
Posted On 2017-01-03