Incidental Mutation 'R4431:Or4a71'
ID 328595
Institutional Source Beutler Lab
Gene Symbol Or4a71
Ensembl Gene ENSMUSG00000075084
Gene Name olfactory receptor family 4 subfamily A member 71
Synonyms Olfr1243, MOR231-4, GA_x6K02T2Q125-50972538-50971621
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89357835-89358752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89357987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 256 (Y256H)
Ref Sequence ENSEMBL: ENSMUSP00000149464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099775] [ENSMUST00000144885]
AlphaFold Q8VGM7
Predicted Effect probably damaging
Transcript: ENSMUST00000099775
AA Change: Y256H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: Y256H

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.5e-45 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.2e-5 PFAM
Pfam:7tm_1 39 285 2.1e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144885
AA Change: Y256H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216635
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
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
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Or4a71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Or4a71 APN 2 89,358,551 (GRCm39) missense probably damaging 1.00
IGL01940:Or4a71 APN 2 89,358,154 (GRCm39) missense probably damaging 0.99
IGL02553:Or4a71 APN 2 89,358,275 (GRCm39) missense probably benign
R0105:Or4a71 UTSW 2 89,358,707 (GRCm39) missense probably benign 0.00
R0105:Or4a71 UTSW 2 89,358,707 (GRCm39) missense probably benign 0.00
R0607:Or4a71 UTSW 2 89,358,451 (GRCm39) missense possibly damaging 0.88
R0764:Or4a71 UTSW 2 89,358,340 (GRCm39) missense probably benign 0.05
R1779:Or4a71 UTSW 2 89,357,989 (GRCm39) missense probably benign 0.15
R2221:Or4a71 UTSW 2 89,358,281 (GRCm39) missense probably benign 0.05
R3853:Or4a71 UTSW 2 89,357,917 (GRCm39) missense possibly damaging 0.94
R3886:Or4a71 UTSW 2 89,358,076 (GRCm39) missense possibly damaging 0.81
R3887:Or4a71 UTSW 2 89,358,076 (GRCm39) missense possibly damaging 0.81
R3888:Or4a71 UTSW 2 89,358,076 (GRCm39) missense possibly damaging 0.81
R4479:Or4a71 UTSW 2 89,358,514 (GRCm39) missense possibly damaging 0.89
R6807:Or4a71 UTSW 2 89,357,932 (GRCm39) missense probably damaging 1.00
R7025:Or4a71 UTSW 2 89,357,948 (GRCm39) missense probably damaging 0.98
R7094:Or4a71 UTSW 2 89,357,902 (GRCm39) missense probably damaging 1.00
R7144:Or4a71 UTSW 2 89,357,901 (GRCm39) missense probably damaging 1.00
R7972:Or4a71 UTSW 2 89,357,948 (GRCm39) missense probably benign 0.02
R8013:Or4a71 UTSW 2 89,358,280 (GRCm39) missense probably benign 0.05
R9101:Or4a71 UTSW 2 89,358,721 (GRCm39) missense possibly damaging 0.93
R9112:Or4a71 UTSW 2 89,358,337 (GRCm39) missense probably damaging 1.00
R9179:Or4a71 UTSW 2 89,358,494 (GRCm39) nonsense probably null
R9193:Or4a71 UTSW 2 89,357,987 (GRCm39) missense probably damaging 1.00
R9708:Or4a71 UTSW 2 89,358,214 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCACAGCATCCCTTGTTAG -3'
(R):5'- TCACTGTCATTGCCAATGGTG -3'

Sequencing Primer
(F):5'- GCACAGCATCCCTTGTTAGAATTTAC -3'
(R):5'- GGAGTAATCTGTGTGGGAATTTTCAC -3'
Posted On 2015-07-21