Incidental Mutation 'R6392:Or4a66'
ID 515793
Institutional Source Beutler Lab
Gene Symbol Or4a66
Ensembl Gene ENSMUSG00000075120
Gene Name olfactory receptor family 4 subfamily A member 66
Synonyms Olfr1196, GA_x6K02T2Q125-50181139-50180195, MOR225-5
MMRRC Submission 044541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6392 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88530727-88531671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88531011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 221 (Y221N)
Ref Sequence ENSEMBL: ENSMUSP00000149902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104892] [ENSMUST00000216928] [ENSMUST00000216977]
AlphaFold Q7TR14
Predicted Effect probably damaging
Transcript: ENSMUST00000104892
AA Change: Y221N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100488
Gene: ENSMUSG00000075120
AA Change: Y221N

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 7.2e-47 PFAM
Pfam:7tm_1 39 285 1.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216928
AA Change: Y221N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216977
AA Change: Y221N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2827 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.1%
Validation Efficiency 96% (47/49)
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
Aars2 A T 17: 45,825,526 (GRCm39) I330F probably damaging Het
Abcc9 A G 6: 142,627,825 (GRCm39) S402P probably damaging Het
Ada A G 2: 163,570,137 (GRCm39) L292P probably damaging Het
Adam34l A T 8: 44,079,038 (GRCm39) N395K probably benign Het
Adra1d T C 2: 131,403,529 (GRCm39) D187G probably damaging Het
AI467606 C A 7: 126,691,717 (GRCm39) Y97* probably null Het
Arid2 A G 15: 96,259,483 (GRCm39) E245G probably damaging Het
Ccdc78 C G 17: 26,007,148 (GRCm39) Q213E probably damaging Het
Cntnap1 G T 11: 101,077,472 (GRCm39) D1045Y probably damaging Het
Ctcf T C 8: 106,390,765 (GRCm39) V124A probably damaging Het
Cutc T C 19: 43,748,489 (GRCm39) S129P possibly damaging Het
Dhx36 T C 3: 62,401,790 (GRCm39) I308V probably benign Het
Disp2 T C 2: 118,621,230 (GRCm39) V654A probably damaging Het
Esm1 G A 13: 113,346,283 (GRCm39) probably benign Het
Extl1 C T 4: 134,091,945 (GRCm39) V303I probably benign Het
Ezh1 G T 11: 101,094,630 (GRCm39) D387E probably damaging Het
Fbf1 T A 11: 116,043,775 (GRCm39) probably null Het
Fbxl12 T C 9: 20,550,472 (GRCm39) H84R probably damaging Het
Fbxo6 C T 4: 148,230,462 (GRCm39) V267I probably benign Het
Helz G T 11: 107,493,167 (GRCm39) A197S possibly damaging Het
Ikbke T C 1: 131,202,883 (GRCm39) probably null Het
Kbtbd13 A G 9: 65,297,619 (GRCm39) F439S possibly damaging Het
Kif7 G A 7: 79,351,934 (GRCm39) R943W probably damaging Het
Lrp12 C T 15: 39,735,415 (GRCm39) C839Y probably damaging Het
Matr3 A G 18: 35,717,894 (GRCm39) D364G probably benign Het
Ncam1 T C 9: 49,434,875 (GRCm39) K624E probably damaging Het
Nup205 T C 6: 35,166,820 (GRCm39) S280P possibly damaging Het
Or52a33 A C 7: 103,288,889 (GRCm39) C153G probably benign Het
Pira2 A T 7: 3,846,901 (GRCm39) S214T possibly damaging Het
Prss3b T C 6: 41,009,306 (GRCm39) Y176C probably damaging Het
Ptpn4 T A 1: 119,700,853 (GRCm39) I30F probably benign Het
Rnf144a T C 12: 26,360,779 (GRCm39) I253V possibly damaging Het
Sh3pxd2b T A 11: 32,373,302 (GRCm39) L823Q possibly damaging Het
Sh3rf3 A T 10: 58,842,898 (GRCm39) D288V probably damaging Het
Shprh T A 10: 11,054,485 (GRCm39) Y1031* probably null Het
Sidt1 T C 16: 44,111,657 (GRCm39) T173A possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Ssh3 C T 19: 4,315,399 (GRCm39) R309H probably benign Het
Tagap G T 17: 8,152,893 (GRCm39) G693W probably damaging Het
Tango2 T A 16: 18,119,403 (GRCm39) I143F probably damaging Het
Thsd7a T C 6: 12,468,928 (GRCm39) H550R probably damaging Het
Tmem131 T A 1: 36,920,423 (GRCm39) Q92H probably benign Het
Tnfrsf21 T C 17: 43,327,979 (GRCm39) L31P probably benign Het
Ttn A T 2: 76,730,487 (GRCm39) probably benign Het
Ubash3b T C 9: 40,926,268 (GRCm39) D493G probably damaging Het
Unc13a C T 8: 72,090,453 (GRCm39) G1411D possibly damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfc3h1 A T 10: 115,237,653 (GRCm39) R477S probably damaging Het
Zfp87 C T 13: 67,664,986 (GRCm39) R492K probably benign Het
Other mutations in Or4a66
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Or4a66 APN 2 88,531,310 (GRCm39) missense probably damaging 1.00
R0269:Or4a66 UTSW 2 88,531,040 (GRCm39) missense probably damaging 0.99
R0556:Or4a66 UTSW 2 88,531,115 (GRCm39) missense possibly damaging 0.83
R0561:Or4a66 UTSW 2 88,530,914 (GRCm39) missense possibly damaging 0.91
R0617:Or4a66 UTSW 2 88,531,040 (GRCm39) missense probably damaging 0.99
R1497:Or4a66 UTSW 2 88,531,106 (GRCm39) missense probably damaging 1.00
R1676:Or4a66 UTSW 2 88,531,661 (GRCm39) missense probably benign 0.00
R3979:Or4a66 UTSW 2 88,530,792 (GRCm39) missense probably benign 0.08
R4791:Or4a66 UTSW 2 88,531,242 (GRCm39) missense probably benign 0.00
R4836:Or4a66 UTSW 2 88,531,544 (GRCm39) missense probably damaging 1.00
R5917:Or4a66 UTSW 2 88,531,049 (GRCm39) missense possibly damaging 0.94
R6232:Or4a66 UTSW 2 88,531,161 (GRCm39) missense probably benign 0.21
R7033:Or4a66 UTSW 2 88,531,164 (GRCm39) missense probably damaging 1.00
R7360:Or4a66 UTSW 2 88,531,331 (GRCm39) missense probably damaging 1.00
R7640:Or4a66 UTSW 2 88,531,230 (GRCm39) missense probably benign
R8968:Or4a66 UTSW 2 88,531,137 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGGGGCAATCACAGTGTAAAAC -3'
(R):5'- ATTGTCACGGCCTGGATACTG -3'

Sequencing Primer
(F):5'- ACACAGAAATTTCCTTATCCTTGTTC -3'
(R):5'- ACTACTGATGGTGCTCAGTCTGC -3'
Posted On 2018-05-04