Incidental Mutation 'R4032:Or4n5'
ID 313552
Institutional Source Beutler Lab
Gene Symbol Or4n5
Ensembl Gene ENSMUSG00000048933
Gene Name olfactory receptor family 4 subfamily N member 5
Synonyms GA_x6K02T2PMLR-5566715-5565789, MOR241-3, Olfr722
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4032 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 50131715-50139398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50132433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 275 (H275Q)
Ref Sequence ENSEMBL: ENSMUSP00000059721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053290]
AlphaFold Q8VFC8
Predicted Effect probably benign
Transcript: ENSMUST00000053290
AA Change: H275Q

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059721
Gene: ENSMUSG00000048933
AA Change: H275Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 4.3e-44 PFAM
Pfam:7tm_1 41 288 2.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213271
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap17 G T 7: 122,879,289 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,237,389 (GRCm39) M846L probably damaging Het
Capn5 G T 7: 97,778,453 (GRCm39) Q389K probably damaging Het
Cdkl3 T A 11: 51,902,118 (GRCm39) I109N probably damaging Het
Cry2 T C 2: 92,244,172 (GRCm39) I334V probably benign Het
Cs T C 10: 128,196,913 (GRCm39) L436P probably damaging Het
D17H6S53E T C 17: 35,346,355 (GRCm39) S89P probably benign Het
Dync1h1 C T 12: 110,584,483 (GRCm39) Q629* probably null Het
H4c12 T C 13: 21,934,588 (GRCm39) I30V possibly damaging Het
Itpka C T 2: 119,573,082 (GRCm39) P75S probably benign Het
Lyst C T 13: 13,791,250 (GRCm39) H38Y probably damaging Het
Mansc4 T C 6: 146,976,678 (GRCm39) K313E probably benign Het
Megf6 T A 4: 154,261,550 (GRCm39) C58* probably null Het
Mtor T C 4: 148,621,209 (GRCm39) V1869A probably benign Het
Mybpc1 T C 10: 88,365,426 (GRCm39) D899G probably benign Het
Nek10 C A 14: 14,853,877 (GRCm38) probably null Het
Nfkb1 T C 3: 135,300,110 (GRCm39) S657G possibly damaging Het
Or10d5j T C 9: 39,867,629 (GRCm39) T213A probably benign Het
Or2a25 A T 6: 42,888,559 (GRCm39) Y34F probably benign Het
Or4m1 T A 14: 50,557,767 (GRCm39) D175V possibly damaging Het
Or51f23 A G 7: 102,453,396 (GRCm39) K237R probably benign Het
Pabir1 C T 19: 24,454,106 (GRCm39) M205I probably benign Het
Pde1b A G 15: 103,429,753 (GRCm39) D82G probably damaging Het
Pdzrn4 C T 15: 92,667,414 (GRCm39) T522M probably damaging Het
Ptpro C A 6: 137,438,740 (GRCm39) N373K probably damaging Het
Ptprs T C 17: 56,720,386 (GRCm39) Y1478C probably damaging Het
Sdc2 A T 15: 33,017,323 (GRCm39) I46F probably damaging Het
Sergef C A 7: 46,092,726 (GRCm39) E428* probably null Het
Stk36 A G 1: 74,665,207 (GRCm39) S651G probably benign Het
Ubr5 A G 15: 38,025,081 (GRCm39) V559A Het
Ugt8a C A 3: 125,667,807 (GRCm39) D345Y probably damaging Het
Usp44 A G 10: 93,683,127 (GRCm39) probably benign Het
Vps13a A T 19: 16,594,263 (GRCm39) L3156Q probably damaging Het
Zfp655 A G 5: 145,180,858 (GRCm39) T239A possibly damaging Het
Zfp87 T C 13: 74,520,449 (GRCm39) T210A possibly damaging Het
Other mutations in Or4n5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1229:Or4n5 UTSW 14 50,132,711 (GRCm39) nonsense probably null
R1400:Or4n5 UTSW 14 50,133,148 (GRCm39) missense possibly damaging 0.49
R1417:Or4n5 UTSW 14 50,133,020 (GRCm39) nonsense probably null
R2126:Or4n5 UTSW 14 50,132,524 (GRCm39) missense probably benign 0.01
R3968:Or4n5 UTSW 14 50,132,983 (GRCm39) missense probably damaging 1.00
R4008:Or4n5 UTSW 14 50,132,464 (GRCm39) missense probably benign 0.00
R4409:Or4n5 UTSW 14 50,133,230 (GRCm39) missense probably benign 0.01
R4934:Or4n5 UTSW 14 50,133,206 (GRCm39) missense probably benign 0.00
R5110:Or4n5 UTSW 14 50,133,032 (GRCm39) missense possibly damaging 0.49
R5232:Or4n5 UTSW 14 50,133,155 (GRCm39) missense probably damaging 1.00
R7019:Or4n5 UTSW 14 50,133,124 (GRCm39) missense probably damaging 1.00
R8963:Or4n5 UTSW 14 50,132,509 (GRCm39) missense probably benign 0.27
R9188:Or4n5 UTSW 14 50,132,366 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGAAGTACCTAACACAGCATTTGC -3'
(R):5'- TTGGGACTTCTGGCCTCCTATG -3'

Sequencing Primer
(F):5'- GCTAAAGAACTGATTCAATGCATG -3'
(R):5'- GCTGTCATTCTCTACCACGTAAAAGG -3'
Posted On 2015-04-30