Incidental Mutation 'R6915:Or4d6'
ID 539317
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 045036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R6915 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 12085964-12093192 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12086490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 140 (V140A)
Ref Sequence ENSEMBL: ENSMUSP00000150097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087824] [ENSMUST00000208391] [ENSMUST00000214103]
AlphaFold Q0VDY1
Predicted Effect probably benign
Transcript: ENSMUST00000087824
AA Change: V140A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085126
Gene: ENSMUSG00000067524
AA Change: V140A

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 benign
Transcript: ENSMUST00000208391
Predicted Effect probably benign
Transcript: ENSMUST00000214103
AA Change: V140A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 97% (63/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 C A 12: 88,422,390 (GRCm39) L334I probably damaging Het
Akap9 T A 5: 4,010,551 (GRCm39) M436K probably benign Het
Ankmy1 A C 1: 92,816,173 (GRCm39) F314V probably null Het
Arid5b G A 10: 68,022,042 (GRCm39) Q183* probably null Het
Atp8b4 A T 2: 126,200,834 (GRCm39) L778* probably null Het
BC024139 G T 15: 76,004,221 (GRCm39) N739K probably benign Het
Carns1 T G 19: 4,219,912 (GRCm39) H441P probably benign Het
Cby2 T A 14: 75,830,098 (GRCm39) T32S probably benign Het
Ccdc121rt3 A T 5: 112,502,523 (GRCm39) W394R probably damaging Het
Cfap70 T A 14: 20,459,153 (GRCm39) I693F probably benign Het
Cldn3 A G 5: 135,015,426 (GRCm39) Q43R probably damaging Het
Col7a1 C T 9: 108,796,686 (GRCm39) P1608L probably benign Het
Cr2 T A 1: 194,853,454 (GRCm39) Y28F probably benign Het
Cyp2c38 T A 19: 39,424,512 (GRCm39) I269F probably damaging Het
Dapk1 A T 13: 60,844,256 (GRCm39) I92F probably damaging Het
Dennd4a T A 9: 64,759,771 (GRCm39) L292* probably null Het
Dhx38 T C 8: 110,286,231 (GRCm39) E353G probably benign Het
Dnm3 T C 1: 162,145,966 (GRCm39) probably null Het
Dzip3 T C 16: 48,762,488 (GRCm39) I794V possibly damaging Het
Eif2b5 T A 16: 20,321,500 (GRCm39) V351D possibly damaging Het
Epg5 T A 18: 78,022,380 (GRCm39) V1041E probably benign Het
Exoc4 A G 6: 33,898,388 (GRCm39) K869R possibly damaging Het
Fat3 C A 9: 16,289,044 (GRCm39) V160F probably benign Het
Gak A T 5: 108,750,816 (GRCm39) Y365N probably benign Het
Ghrhr T A 6: 55,360,104 (GRCm39) probably null Het
Gm21738 A G 14: 19,415,933 (GRCm38) M202T probably benign Het
Havcr2 C T 11: 46,366,738 (GRCm39) S177L probably benign Het
Hkdc1 G C 10: 62,237,711 (GRCm39) R353G possibly damaging Het
Ifi208 G A 1: 173,510,444 (GRCm39) G200S probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lair1 A T 7: 4,058,952 (GRCm39) V12E possibly damaging Het
Lipo3 T C 19: 33,562,293 (GRCm39) N26D probably damaging Het
Lyst T A 13: 13,900,629 (GRCm39) D3168E probably benign Het
Map6 G A 7: 98,917,454 (GRCm39) A76T probably damaging Het
Mcoln3 A T 3: 145,843,011 (GRCm39) probably null Het
Muc4 T C 16: 32,587,312 (GRCm39) F2718L probably benign Het
Nek11 C G 9: 105,270,256 (GRCm39) probably benign Het
Or10n7-ps1 T C 9: 39,597,832 (GRCm39) E136G unknown Het
Or2z8 C A 8: 72,811,574 (GRCm39) L17I probably benign Het
Pcdh15 A T 10: 74,479,641 (GRCm39) E846V probably benign Het
Pcdhga8 C T 18: 37,858,998 (GRCm39) T18M probably benign Het
Per3 T C 4: 151,128,106 (GRCm39) M61V possibly damaging Het
Pfas C T 11: 68,883,007 (GRCm39) R759Q probably benign Het
Pitpnm1 A G 19: 4,156,947 (GRCm39) Y490C possibly damaging Het
Plcb4 A T 2: 135,789,035 (GRCm39) I272F possibly damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prkce G C 17: 86,800,835 (GRCm39) G417A probably damaging Het
Ptar1 A G 19: 23,680,501 (GRCm39) N106D probably damaging Het
Rbm15 C A 3: 107,239,627 (GRCm39) R257L probably benign Het
Rptor T G 11: 119,647,171 (GRCm39) M254R probably damaging Het
Runx1t1 T A 4: 13,865,257 (GRCm39) W350R probably damaging Het
Ryr2 T G 13: 11,760,487 (GRCm39) Y1532S probably damaging Het
Serpina1a C A 12: 103,820,110 (GRCm39) V379L possibly damaging Het
Sox8 C T 17: 25,786,888 (GRCm39) V272I probably damaging Het
Stard9 C T 2: 120,533,111 (GRCm39) H3123Y probably benign Het
Taar9 C T 10: 23,984,910 (GRCm39) E175K possibly damaging Het
Tinag T A 9: 76,908,897 (GRCm39) Y348F probably damaging Het
Tktl2 T C 8: 66,965,687 (GRCm39) I415T probably damaging Het
Tm7sf2 G T 19: 6,118,342 (GRCm39) R718S probably damaging Het
Tmem229a G T 6: 24,954,657 (GRCm39) Q366K probably benign Het
Txndc2 T C 17: 65,945,286 (GRCm39) D297G probably benign Het
Ulk4 A G 9: 121,087,886 (GRCm39) F269L probably benign Het
Vps39 A T 2: 120,151,512 (GRCm39) Y738* probably null 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
R4470:Or4d6 UTSW 19 12,086,547 (GRCm39) splice site probably null
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
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

Sequencing Primer
Posted On 2018-11-06