Incidental Mutation 'R4470:Or4d6'
ID 329399
Institutional Source Beutler Lab
Gene Symbol Or4d6
Ensembl Gene ENSMUSG00000067524
Gene Name olfactory receptor family 4 subfamily D member 6
Synonyms GA_x6K02T2RE5P-2468394-2467450, Olfr1428, MOR239-5
MMRRC Submission 041727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R4470 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12085964-12093192 bp(-) (GRCm39)
Type of Mutation splice site (261 bp from exon)
DNA Base Change (assembly) T to C at 12086547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087824] [ENSMUST00000208391] [ENSMUST00000214103]
AlphaFold Q0VDY1
Predicted Effect probably damaging
Transcript: ENSMUST00000087824
AA Change: D121G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085126
Gene: ENSMUSG00000067524
AA Change: D121G

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.1e-43 PFAM
Pfam:7TM_GPCR_Srsx 35 305 6.2e-6 PFAM
Pfam:7tm_1 41 303 2.9e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000208391
Predicted Effect probably damaging
Transcript: ENSMUST00000214103
AA Change: D121G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6344 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A C 16: 85,595,404 (GRCm39) V258G possibly damaging Het
Adcy1 A G 11: 7,094,804 (GRCm39) T577A probably benign Het
Adgb T C 10: 10,274,695 (GRCm39) N728S probably benign Het
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankdd1a T C 9: 65,410,791 (GRCm39) D398G probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Atp13a1 T C 8: 70,251,329 (GRCm39) S495P probably damaging Het
Camta2 T C 11: 70,571,766 (GRCm39) D510G probably damaging Het
Cdh8 T A 8: 100,143,321 (GRCm39) probably benign Het
Cul9 C T 17: 46,849,262 (GRCm39) A628T probably benign Het
Ddx19a A G 8: 111,703,111 (GRCm39) V442A probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah7c T A 1: 46,787,795 (GRCm39) S3283T possibly damaging Het
Fmo9 T A 1: 166,507,799 (GRCm39) I19F probably damaging Het
Gmeb2 A T 2: 180,906,938 (GRCm39) probably null Het
H2-K2 G A 17: 34,219,035 (GRCm39) R23C probably benign Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Il16 A G 7: 83,300,046 (GRCm39) probably benign Het
Kcnj3 A T 2: 55,327,877 (GRCm39) H222L probably damaging Het
Lama4 T A 10: 38,956,492 (GRCm39) Y1138* probably null Het
Lpin3 A G 2: 160,737,354 (GRCm39) T134A probably benign Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Mylk A G 16: 34,732,522 (GRCm39) K601E probably benign Het
Myzap A G 9: 71,499,563 (GRCm39) probably benign Het
Ncor2 A T 5: 125,179,705 (GRCm39) probably null Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or1j16 T C 2: 36,530,233 (GRCm39) F61L probably damaging Het
Or4c114 T C 2: 88,905,382 (GRCm39) N18D probably benign Het
Or51b4 G A 7: 103,530,956 (GRCm39) P165S probably benign Het
Or6c202 G A 10: 128,996,383 (GRCm39) L157F probably benign Het
Or8c13 A G 9: 38,091,666 (GRCm39) M151T probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Pramel5 T C 4: 143,997,915 (GRCm39) K443E possibly damaging Het
Rock2 C T 12: 17,021,276 (GRCm39) Q1019* probably null Het
Rps18-ps3 T A 8: 107,989,762 (GRCm39) noncoding transcript Het
Sis T C 3: 72,835,492 (GRCm39) probably null Het
Slc22a21 T A 11: 53,846,839 (GRCm39) I345F probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Taf1c T C 8: 120,326,361 (GRCm39) K526R probably benign Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tbx4 A G 11: 85,802,948 (GRCm39) I275V probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trim69 A G 2: 122,009,080 (GRCm39) Y380C probably damaging Het
Vldlr G T 19: 27,212,219 (GRCm39) V78L probably damaging Het
Vmn1r68 A T 7: 10,261,275 (GRCm39) N274K probably benign Het
Vmn2r104 G T 17: 20,262,503 (GRCm39) S209Y probably damaging Het
Vmn2r108 T A 17: 20,682,990 (GRCm39) N738I probably damaging Het
Wnt3 A G 11: 103,703,450 (GRCm39) D311G probably damaging Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zcchc14 C T 8: 122,378,498 (GRCm39) probably benign Het
Zfp148 T C 16: 33,316,602 (GRCm39) Y383H probably damaging Het
Zfp41 A G 15: 75,490,368 (GRCm39) R107G probably damaging Het
Other mutations in Or4d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03062:Or4d6 APN 19 12,086,512 (GRCm39) missense probably benign 0.00
BB006:Or4d6 UTSW 19 12,086,118 (GRCm39) missense unknown
BB016:Or4d6 UTSW 19 12,086,118 (GRCm39) missense unknown
IGL02796:Or4d6 UTSW 19 12,086,248 (GRCm39) missense possibly damaging 0.85
PIT4495001:Or4d6 UTSW 19 12,086,076 (GRCm39) missense possibly damaging 0.65
R0541:Or4d6 UTSW 19 12,086,884 (GRCm39) missense possibly damaging 0.85
R1169:Or4d6 UTSW 19 12,086,853 (GRCm39) missense probably benign
R1918:Or4d6 UTSW 19 12,086,871 (GRCm39) missense probably benign 0.06
R2915:Or4d6 UTSW 19 12,085,989 (GRCm39) missense probably benign 0.09
R3835:Or4d6 UTSW 19 12,086,764 (GRCm39) missense possibly damaging 0.92
R4682:Or4d6 UTSW 19 12,086,049 (GRCm39) missense probably damaging 1.00
R4751:Or4d6 UTSW 19 12,086,541 (GRCm39) missense probably damaging 1.00
R5467:Or4d6 UTSW 19 12,086,023 (GRCm39) missense probably benign 0.20
R5513:Or4d6 UTSW 19 12,086,745 (GRCm39) missense probably damaging 1.00
R6915:Or4d6 UTSW 19 12,086,490 (GRCm39) missense probably benign 0.25
R7385:Or4d6 UTSW 19 12,086,061 (GRCm39) missense probably damaging 1.00
R7569:Or4d6 UTSW 19 12,086,385 (GRCm39) missense possibly damaging 0.77
R7929:Or4d6 UTSW 19 12,086,118 (GRCm39) missense unknown
R8442:Or4d6 UTSW 19 12,086,091 (GRCm39) missense probably damaging 1.00
R9215:Or4d6 UTSW 19 12,086,016 (GRCm39) missense probably damaging 1.00
R9467:Or4d6 UTSW 19 12,086,313 (GRCm39) missense possibly damaging 0.56
R9753:Or4d6 UTSW 19 12,086,056 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TATCAGTGCAGGCCAGCTTC -3'
(R):5'- CCTATGTACTTCCTCTTGAGGAAC -3'

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