Incidental Mutation 'IGL01560:Or6p1'
ID 90813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6p1
Ensembl Gene ENSMUSG00000051509
Gene Name olfactory receptor family 6 subfamily P member 1
Synonyms MOR103-10, Olfr414, GA_x6K02T2P20D-20749615-20748662
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL01560
Quality Score
Status
Chromosome 1
Chromosomal Location 174257996-174258950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 174258467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 158 (M158L)
Ref Sequence ENSEMBL: ENSMUSP00000142051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053178] [ENSMUST00000192358]
AlphaFold E9Q5P8
Predicted Effect probably benign
Transcript: ENSMUST00000053178
AA Change: M158L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052426
Gene: ENSMUSG00000051509
AA Change: M158L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.8e-53 PFAM
Pfam:7tm_1 41 290 8.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192358
AA Change: M158L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142051
Gene: ENSMUSG00000051509
AA Change: M158L

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 2.9e-29 PFAM
Pfam:7tm_4 139 283 1.1e-45 PFAM
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,203,066 (GRCm39) I129N probably damaging Het
Arsb A G 13: 93,944,106 (GRCm39) I266V probably benign Het
Atp6v1b1 A G 6: 83,726,897 (GRCm39) probably benign Het
Cacna1d C T 14: 29,821,163 (GRCm39) V1118I probably benign Het
Cadps A T 14: 12,491,792 (GRCm38) V791D probably damaging Het
Cdh2 T C 18: 16,783,495 (GRCm39) D78G probably benign Het
Fem1al A T 11: 29,774,643 (GRCm39) Y271* probably null Het
Flnb T G 14: 7,893,829 (GRCm38) I714S probably benign Het
Fzd1 A G 5: 4,806,037 (GRCm39) M515T probably benign Het
Lrpprc A T 17: 85,015,547 (GRCm39) F1288Y probably benign Het
Lrrk2 A G 15: 91,659,191 (GRCm39) I1868V probably benign Het
Mmel1 A G 4: 154,976,967 (GRCm39) D561G probably null Het
Mypn A T 10: 62,970,743 (GRCm39) V887E probably benign Het
Or4c118 C T 2: 88,974,947 (GRCm39) C140Y probably damaging Het
Or7g28 T C 9: 19,271,842 (GRCm39) T270A probably benign Het
Osbpl5 C A 7: 143,269,430 (GRCm39) E49* probably null Het
Prpf8 A G 11: 75,381,232 (GRCm39) Q189R possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Six6 T A 12: 72,986,831 (GRCm39) M1K probably null Het
Slc13a4 A G 6: 35,248,538 (GRCm39) probably benign Het
Slc17a1 T A 13: 24,058,612 (GRCm39) I22N probably damaging Het
Thsd7b C T 1: 130,145,918 (GRCm39) probably benign Het
Thumpd3 A G 6: 113,040,120 (GRCm39) I335V possibly damaging Het
Ttn T C 2: 76,602,016 (GRCm39) T18549A possibly damaging Het
Ugt2b37 G T 5: 87,399,698 (GRCm39) P270Q probably damaging Het
Wdfy3 A T 5: 102,105,352 (GRCm39) Y158* probably null Het
Zfp282 A T 6: 47,857,211 (GRCm39) E148V probably damaging Het
Other mutations in Or6p1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Or6p1 APN 1 174,258,908 (GRCm39) missense probably benign 0.00
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
R5020:Or6p1 UTSW 1 174,258,237 (GRCm39) missense probably damaging 0.98
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
Posted On 2013-12-09