Incidental Mutation 'R4479:Or4a71'
ID 331384
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 041736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4479 (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 89358514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 80 (I80T)
Ref Sequence ENSEMBL: ENSMUSP00000149464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099775] [ENSMUST00000144885]
AlphaFold Q8VGM7
Predicted Effect possibly damaging
Transcript: ENSMUST00000099775
AA Change: I80T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: I80T

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 possibly damaging
Transcript: ENSMUST00000144885
AA Change: I80T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216635
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 95% (36/38)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,654,663 (GRCm39) T553A possibly damaging Het
Adamts20 C T 15: 94,301,326 (GRCm39) R66H probably damaging Het
Anks1b A G 10: 89,885,754 (GRCm39) E150G probably damaging Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cnbd2 T C 2: 156,175,573 (GRCm39) probably benign Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dusp15 A G 2: 152,786,102 (GRCm39) L135P probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Erlin2 G T 8: 27,515,127 (GRCm39) V10L probably benign Het
F830104G03Rik A G 3: 56,797,634 (GRCm39) S98P unknown Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm3159 T C 14: 4,398,584 (GRCm38) Y92H probably damaging Het
Ighv1-22 G T 12: 114,710,283 (GRCm39) A15E possibly damaging Het
Ints4 T C 7: 97,134,178 (GRCm39) S37P probably damaging Het
Irs1 G A 1: 82,265,015 (GRCm39) T1067I probably damaging Het
Lrrc28 C T 7: 67,181,362 (GRCm39) probably null Het
Or10v1 A G 19: 11,873,922 (GRCm39) Y179C probably damaging Het
Or5ac24 G A 16: 59,165,230 (GRCm39) T278I probably damaging Het
Psg18 C T 7: 18,084,787 (GRCm39) S103N probably benign Het
Psma3 T C 12: 71,031,555 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,372,412 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,495 (GRCm39) D152G probably damaging Het
Tti1 A T 2: 157,850,315 (GRCm39) L308Q possibly damaging Het
Unc93b1 G A 19: 3,985,236 (GRCm39) A15T probably benign Het
Usp43 G A 11: 67,747,233 (GRCm39) R820C possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zkscan5 T C 5: 145,147,984 (GRCm39) probably benign 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
R4431:Or4a71 UTSW 2 89,357,987 (GRCm39) missense probably damaging 1.00
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'- CCCGCTGATTCATGATGGTC -3'
(R):5'- ACAGAGCTACAATGTCACAGAATTC -3'

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