Incidental Mutation 'R6424:Or5p1'
ID 518263
Institutional Source Beutler Lab
Gene Symbol Or5p1
Ensembl Gene ENSMUSG00000094612
Gene Name olfactory receptor family 5 subfamily P member 1
Synonyms MOR204-11, GA_x6K02T2PBJ9-10646917-10647849, Olfr491
MMRRC Submission 044387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 107916103-107917035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107916412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 104 (V104I)
Ref Sequence ENSEMBL: ENSMUSP00000150694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053179] [ENSMUST00000209545] [ENSMUST00000214605]
AlphaFold Q8VG06
Predicted Effect probably benign
Transcript: ENSMUST00000053179
AA Change: V104I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000061188
Gene: ENSMUSG00000094612
AA Change: V104I

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.4e-50 PFAM
Pfam:7tm_1 41 290 5.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209545
AA Change: V104I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000214605
AA Change: V104I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,542 (GRCm39) V4184A probably benign Het
Acvr2b T A 9: 119,231,645 (GRCm39) W12R probably benign Het
Arap2 T C 5: 62,840,707 (GRCm39) K720E probably damaging Het
Cr1l A C 1: 194,800,123 (GRCm39) F184V probably damaging Het
Haus8 C T 8: 71,704,080 (GRCm39) W359* probably null Het
Insm2 A T 12: 55,646,867 (GRCm39) I204F probably damaging Het
Katnb1 T A 8: 95,820,144 (GRCm39) I97N probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Map2 A T 1: 66,453,946 (GRCm39) K945N possibly damaging Het
Meltf T A 16: 31,699,080 (GRCm39) C63* probably null Het
Nbas T C 12: 13,465,734 (GRCm39) probably null Het
Raf1 T C 6: 115,596,542 (GRCm39) E594G probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Scgb2b19 A C 7: 32,978,022 (GRCm39) S92A possibly damaging Het
Serpinb3c T A 1: 107,199,359 (GRCm39) *387Y probably null Het
Shpk A T 11: 73,104,318 (GRCm39) I156F possibly damaging Het
Smarcd1 T C 15: 99,602,248 (GRCm39) F128L probably damaging Het
Tars3 G A 7: 65,305,487 (GRCm39) G237E probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Ttn T C 2: 76,719,848 (GRCm39) probably benign Het
Vmn1r223 T A 13: 23,434,345 (GRCm39) I313N probably damaging Het
Other mutations in Or5p1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Or5p1 APN 7 107,916,725 (GRCm39) missense probably benign 0.02
IGL01731:Or5p1 APN 7 107,916,682 (GRCm39) missense probably benign 0.01
IGL02227:Or5p1 APN 7 107,916,408 (GRCm39) nonsense probably null
IGL02624:Or5p1 APN 7 107,916,130 (GRCm39) missense probably benign 0.38
IGL03164:Or5p1 APN 7 107,916,901 (GRCm39) missense probably damaging 1.00
R0143:Or5p1 UTSW 7 107,916,202 (GRCm39) missense probably benign 0.00
R0217:Or5p1 UTSW 7 107,916,505 (GRCm39) missense probably benign 0.00
R0295:Or5p1 UTSW 7 107,916,892 (GRCm39) missense probably benign 0.42
R2100:Or5p1 UTSW 7 107,916,761 (GRCm39) missense probably benign 0.04
R2379:Or5p1 UTSW 7 107,916,499 (GRCm39) missense probably benign 0.25
R4178:Or5p1 UTSW 7 107,916,565 (GRCm39) missense probably damaging 1.00
R4365:Or5p1 UTSW 7 107,916,313 (GRCm39) missense probably benign 0.02
R4734:Or5p1 UTSW 7 107,916,959 (GRCm39) missense probably damaging 1.00
R4828:Or5p1 UTSW 7 107,916,677 (GRCm39) missense probably benign 0.00
R6784:Or5p1 UTSW 7 107,916,989 (GRCm39) missense probably damaging 0.98
R7109:Or5p1 UTSW 7 107,916,959 (GRCm39) missense probably damaging 1.00
R7348:Or5p1 UTSW 7 107,916,920 (GRCm39) missense possibly damaging 0.58
R7590:Or5p1 UTSW 7 107,916,386 (GRCm39) missense probably benign 0.00
R8124:Or5p1 UTSW 7 107,916,984 (GRCm39) missense possibly damaging 0.48
R8782:Or5p1 UTSW 7 107,916,296 (GRCm39) missense probably damaging 0.99
X0060:Or5p1 UTSW 7 107,916,427 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGATGATCCTACACTCTGTGTCATC -3'
(R):5'- CAGCCAGTAAATGTCCATGC -3'

Sequencing Primer
(F):5'- TGTCACCTTAGTAGGAAATATCAGC -3'
(R):5'- GTAAATGTCCATGCATTCACACAG -3'
Posted On 2018-05-24