Incidental Mutation 'R5020:Or6p1'
ID 389113
Institutional Source Beutler Lab
Gene Symbol Or6p1
Ensembl Gene ENSMUSG00000051509
Gene Name olfactory receptor family 6 subfamily P member 1
Synonyms MOR103-10, Olfr414, GA_x6K02T2P20D-20749615-20748662
MMRRC Submission 042611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5020 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 174257996-174258950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 174258237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 81 (L81R)
Ref Sequence ENSEMBL: ENSMUSP00000142051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053178] [ENSMUST00000192358]
AlphaFold E9Q5P8
Predicted Effect probably damaging
Transcript: ENSMUST00000053178
AA Change: L81R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052426
Gene: ENSMUSG00000051509
AA Change: L81R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.8e-53 PFAM
Pfam:7tm_1 41 290 8.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192358
AA Change: L81R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142051
Gene: ENSMUSG00000051509
AA Change: L81R

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 2.9e-29 PFAM
Pfam:7tm_4 139 283 1.1e-45 PFAM
Meta Mutation Damage Score 0.6201 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (72/73)
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
Acadsb A T 7: 131,042,929 (GRCm39) probably null Het
Actl6a A G 3: 32,774,656 (GRCm39) I340V possibly damaging Het
Alppl2 C T 1: 87,017,431 (GRCm39) V19I probably benign Het
Ankrd34c T C 9: 89,611,759 (GRCm39) K194R probably benign Het
Anpep T A 7: 79,483,475 (GRCm39) M672L probably benign Het
Arhgap31 T C 16: 38,423,438 (GRCm39) D876G probably damaging Het
Arid2 T A 15: 96,269,869 (GRCm39) N1327K probably damaging Het
Atp5f1d C A 10: 79,981,263 (GRCm39) P101Q probably benign Het
Bcl7b G A 5: 135,200,017 (GRCm39) probably null Het
Brca2 A T 5: 150,483,901 (GRCm39) S2907C probably damaging Het
Ccser2 T C 14: 36,662,134 (GRCm39) E350G probably benign Het
Cdh23 G T 10: 60,143,811 (GRCm39) D2929E probably damaging Het
Clec2i T A 6: 128,870,621 (GRCm39) V78E probably benign Het
Cpxm1 A T 2: 130,237,897 (GRCm39) probably null Het
Crybg3 C T 16: 59,375,159 (GRCm39) V2032I possibly damaging Het
Eif5b A T 1: 38,058,150 (GRCm39) K151* probably null Het
Gemin7 T A 7: 19,299,348 (GRCm39) E82D possibly damaging Het
Gm14496 A G 2: 181,633,152 (GRCm39) E45G possibly damaging Het
Gm21915 T C 9: 40,581,966 (GRCm39) S20P probably damaging Het
Gm8126 A C 14: 43,119,026 (GRCm39) E165A probably damaging Het
Grin2b T C 6: 135,710,405 (GRCm39) D1047G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ikbke T A 1: 131,201,397 (GRCm39) Y150F probably damaging Het
Inhca T C 9: 103,159,701 (GRCm39) D70G probably benign Het
Itih5 T A 2: 10,245,315 (GRCm39) probably null Het
Lrig2 T C 3: 104,365,217 (GRCm39) Q645R possibly damaging Het
Map4 A G 9: 109,897,868 (GRCm39) M712V probably benign Het
Mecom A G 3: 30,015,255 (GRCm39) S823P probably damaging Het
Mettl25 A G 10: 105,662,068 (GRCm39) Y301H possibly damaging Het
Mga A T 2: 119,781,654 (GRCm39) K2136* probably null Het
Mmp24 A G 2: 155,652,204 (GRCm39) E304G probably benign Het
Mmp3 T A 9: 7,445,984 (GRCm39) D29E probably benign Het
Nbas T A 12: 13,424,713 (GRCm39) I984N probably damaging Het
Nedd9 A G 13: 41,469,270 (GRCm39) Y628H probably damaging Het
Nlrp2 C T 7: 5,331,076 (GRCm39) C440Y probably damaging Het
Or4g16 T C 2: 111,136,637 (GRCm39) V29A probably benign Het
P4ha2 T C 11: 54,022,016 (GRCm39) V513A probably damaging Het
Pcsk4 T C 10: 80,161,869 (GRCm39) N124S probably benign Het
Phf12 T C 11: 77,914,622 (GRCm39) F139S probably damaging Het
Phlpp2 T A 8: 110,666,714 (GRCm39) L1081H probably damaging Het
Phospho2 T A 2: 69,626,323 (GRCm39) F160I probably damaging Het
Plch2 T G 4: 155,091,540 (GRCm39) D115A probably damaging Het
Plekho1 A G 3: 95,896,851 (GRCm39) F215S probably damaging Het
Psma4 C A 9: 54,860,056 (GRCm39) A47E probably damaging Het
Rasa4 A C 5: 136,130,153 (GRCm39) Q303P probably damaging Het
Rbmxl2 C T 7: 106,809,414 (GRCm39) P233L probably damaging Het
Reln A T 5: 22,239,636 (GRCm39) L877H probably damaging Het
Rtel1 A G 2: 180,964,307 (GRCm39) probably null Het
Septin12 T C 16: 4,811,620 (GRCm39) D116G probably damaging Het
Son T A 16: 91,453,263 (GRCm39) V670E probably damaging Het
Spag9 T A 11: 93,988,612 (GRCm39) I544N probably benign Het
Spsb3 T G 17: 25,106,036 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,652 (GRCm39) F164L possibly damaging Het
Tgfbr3 T C 5: 107,362,836 (GRCm39) T59A probably damaging Het
Tsc1 T A 2: 28,566,531 (GRCm39) I649K probably damaging Het
Txndc9 T C 1: 38,034,793 (GRCm39) D37G probably benign Het
Uba7 C T 9: 107,856,113 (GRCm39) A496V probably benign Het
Usf3 T A 16: 44,035,889 (GRCm39) I123N probably damaging Het
Vmn1r184 T A 7: 25,966,955 (GRCm39) S234T possibly damaging Het
Vsig10l C A 7: 43,114,741 (GRCm39) S314* probably null Het
Wdfy4 A G 14: 32,801,892 (GRCm39) F1922S probably damaging Het
Zfp219 C T 14: 52,247,112 (GRCm39) R5H probably damaging Het
Zfp946 G T 17: 22,674,584 (GRCm39) C446F probably benign Het
Other mutations in Or6p1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Or6p1 APN 1 174,258,908 (GRCm39) missense probably benign 0.00
IGL01560:Or6p1 APN 1 174,258,467 (GRCm39) missense probably benign 0.17
IGL01795:Or6p1 APN 1 174,258,215 (GRCm39) missense possibly damaging 0.83
IGL03286:Or6p1 APN 1 174,258,743 (GRCm39) missense probably benign 0.01
PIT4131001:Or6p1 UTSW 1 174,258,390 (GRCm39) missense probably damaging 1.00
R0219:Or6p1 UTSW 1 174,258,032 (GRCm39) missense probably benign 0.00
R0492:Or6p1 UTSW 1 174,258,129 (GRCm39) missense possibly damaging 0.95
R1052:Or6p1 UTSW 1 174,258,701 (GRCm39) nonsense probably null
R1054:Or6p1 UTSW 1 174,258,419 (GRCm39) missense probably benign 0.36
R1473:Or6p1 UTSW 1 174,258,209 (GRCm39) missense probably damaging 0.97
R1675:Or6p1 UTSW 1 174,258,663 (GRCm39) missense probably benign
R1774:Or6p1 UTSW 1 174,258,905 (GRCm39) missense probably benign 0.00
R1861:Or6p1 UTSW 1 174,258,657 (GRCm39) missense probably damaging 1.00
R1959:Or6p1 UTSW 1 174,258,471 (GRCm39) missense probably damaging 1.00
R1978:Or6p1 UTSW 1 174,258,657 (GRCm39) missense probably damaging 1.00
R4043:Or6p1 UTSW 1 174,258,657 (GRCm39) missense probably damaging 1.00
R5354:Or6p1 UTSW 1 174,258,252 (GRCm39) missense probably damaging 0.98
R5873:Or6p1 UTSW 1 174,258,348 (GRCm39) missense possibly damaging 0.84
R6053:Or6p1 UTSW 1 174,258,135 (GRCm39) nonsense probably null
R8300:Or6p1 UTSW 1 174,258,100 (GRCm39) nonsense probably null
R9105:Or6p1 UTSW 1 174,258,861 (GRCm39) missense probably damaging 1.00
R9716:Or6p1 UTSW 1 174,258,641 (GRCm39) missense probably benign 0.21
Z1176:Or6p1 UTSW 1 174,258,157 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- CACCATGAGAAATCTGAGCGG -3'
(R):5'- TCTGGGAGGCATGAGACTAG -3'

Sequencing Primer
(F):5'- AGCCACGTGGAGGAGTTTGTC -3'
(R):5'- CTAGGGTAACGAAGGGGTTCAC -3'
Posted On 2016-06-06