Incidental Mutation 'R5232:Or4n5'
ID 398641
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
MMRRC Submission 042804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5232 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 50131715-50139398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50133155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 35 (Y35H)
Ref Sequence ENSEMBL: ENSMUSP00000059721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053290]
AlphaFold Q8VFC8
Predicted Effect probably damaging
Transcript: ENSMUST00000053290
AA Change: Y35H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059721
Gene: ENSMUSG00000048933
AA Change: Y35H

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,157,672 (GRCm39) E1295G probably damaging Het
Adarb2 C A 13: 8,763,676 (GRCm39) H524Q possibly damaging Het
Arhgap26 A G 18: 39,126,529 (GRCm39) M1V probably null Het
Atp10b G A 11: 43,093,006 (GRCm39) R447H probably damaging Het
B4galnt3 T A 6: 120,209,949 (GRCm39) Y58F probably damaging Het
Cdca7l A G 12: 117,833,820 (GRCm39) E79G probably damaging Het
Chd4 C G 6: 125,098,273 (GRCm39) P350A probably damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Cubn A T 2: 13,483,013 (GRCm39) C244* probably null Het
Cyfip2 A G 11: 46,133,205 (GRCm39) S832P probably damaging Het
Dnaaf1 A C 8: 120,317,329 (GRCm39) E286A probably benign Het
Emilin1 A G 5: 31,074,323 (GRCm39) K188R probably benign Het
Fstl5 T C 3: 76,052,284 (GRCm39) W5R possibly damaging Het
Gm5565 T A 5: 146,096,947 (GRCm39) Y64F possibly damaging Het
Golga4 G A 9: 118,335,626 (GRCm39) probably null Het
Hmcn2 T C 2: 31,347,760 (GRCm39) L4802P probably damaging Het
Hnrnpll C T 17: 80,346,107 (GRCm39) V385I probably damaging Het
Kctd9 A T 14: 67,962,110 (GRCm39) D51V probably damaging Het
Lcn9 T C 2: 25,714,067 (GRCm39) probably null Het
Map1a C A 2: 121,132,466 (GRCm39) P856H probably damaging Het
Myo5b G C 18: 74,848,003 (GRCm39) E1080D probably damaging Het
Naglu T C 11: 100,960,976 (GRCm39) I9T probably benign Het
Ndst3 A T 3: 123,465,888 (GRCm39) I28N probably damaging Het
Olfm4 A G 14: 80,259,122 (GRCm39) N424D probably damaging Het
Or11g26 T A 14: 50,753,495 (GRCm39) V278E probably damaging Het
Phf13 T C 4: 152,076,680 (GRCm39) T171A probably damaging Het
Plk3 A G 4: 116,986,317 (GRCm39) V605A probably benign Het
Polr3a A T 14: 24,503,279 (GRCm39) M1185K probably benign Het
Pramel7 A T 2: 87,320,320 (GRCm39) H324Q probably damaging Het
Prpf4b T A 13: 35,067,573 (GRCm39) probably benign Het
Pxdn C T 12: 30,040,987 (GRCm39) T421I probably benign Het
Sertad2 C T 11: 20,598,344 (GRCm39) T180I possibly damaging Het
Sgo2b C A 8: 64,381,636 (GRCm39) A399S possibly damaging Het
Skint5 T C 4: 113,434,841 (GRCm39) K1043E unknown Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Spock3 T C 8: 63,798,843 (GRCm39) F288S probably damaging Het
Srgap1 T C 10: 121,676,816 (GRCm39) I393V probably benign Het
Taf6 T C 5: 138,178,214 (GRCm39) K429R possibly damaging Het
Vav1 T C 17: 57,610,846 (GRCm39) F447L possibly damaging Het
Vmn2r19 T C 6: 123,312,916 (GRCm39) M662T probably benign Het
Zfp541 A G 7: 15,829,104 (GRCm39) Y1152C probably 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
R4032:Or4n5 UTSW 14 50,132,433 (GRCm39) missense probably benign 0.22
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
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'- CTGAGTGATGCAGGCTTTATAAG -3'
(R):5'- GGTGCACTGGTTATGGCAAG -3'

Sequencing Primer
(F):5'- GTGATGCAGGCTTTATAAGAAATGAC -3'
(R):5'- CACTGGTTATGGCAAGCACTG -3'
Posted On 2016-07-06