Incidental Mutation 'R2313:Or4n4'
ID 245384
Institutional Source Beutler Lab
Gene Symbol Or4n4
Ensembl Gene ENSMUSG00000091873
Gene Name olfactory receptor family 4 subfamily N member 4
Synonyms GA_x6K02T2PMLR-5975274-5974348, Olfr732, MOR241-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R2313 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 50518685-50519728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50519431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 93 (S93F)
Ref Sequence ENSEMBL: ENSMUSP00000148984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071208] [ENSMUST00000213701]
AlphaFold Q8VFT5
Predicted Effect probably damaging
Transcript: ENSMUST00000071208
AA Change: S93F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071195
Gene: ENSMUSG00000091873
AA Change: S93F

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 7.4e-45 PFAM
Pfam:7tm_1 41 288 4.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213701
AA Change: S93F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.1%
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
Alox5 T A 6: 116,390,822 (GRCm39) D443V probably benign Het
Ankrd53 A T 6: 83,740,662 (GRCm39) H95L probably damaging Het
Chrnb3 A G 8: 27,883,809 (GRCm39) Y182C probably damaging Het
Cln5 C T 14: 103,309,182 (GRCm39) R79* probably null Het
Cntn3 C A 6: 102,180,889 (GRCm39) V769L probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Il1r1 T C 1: 40,352,470 (GRCm39) S550P probably benign Het
Klra7 T A 6: 130,205,505 (GRCm39) T132S probably benign Het
Lrch3 A G 16: 32,782,045 (GRCm39) N273S probably damaging Het
Lrriq3 A T 3: 154,869,660 (GRCm39) R328S probably benign Het
Mpp2 T C 11: 101,952,898 (GRCm39) E318G possibly damaging Het
Or4c122 C A 2: 89,079,285 (GRCm39) C239F probably damaging Het
Pglyrp2 A T 17: 32,637,673 (GRCm39) D118E probably damaging Het
Ppp4c A G 7: 126,386,629 (GRCm39) S153P probably damaging Het
Ptpn13 A G 5: 103,712,027 (GRCm39) S1642G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Unc13d A G 11: 115,954,560 (GRCm39) F1016S probably damaging Het
Vwa8 C G 14: 79,149,658 (GRCm39) T140S probably damaging Het
Wdfy3 A G 5: 102,037,150 (GRCm39) F2046L probably damaging Het
Zfp788 A G 7: 41,298,312 (GRCm39) H316R probably damaging Het
Zfp994 T A 17: 22,420,266 (GRCm39) I228F probably damaging Het
Other mutations in Or4n4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Or4n4 APN 14 50,519,689 (GRCm39) missense probably damaging 0.99
IGL01801:Or4n4 APN 14 50,519,665 (GRCm39) missense probably benign
IGL01992:Or4n4 APN 14 50,518,798 (GRCm39) missense probably benign 0.09
IGL02137:Or4n4 APN 14 50,519,135 (GRCm39) missense probably benign 0.16
IGL02494:Or4n4 APN 14 50,519,683 (GRCm39) missense probably damaging 1.00
IGL02606:Or4n4 APN 14 50,519,530 (GRCm39) missense probably damaging 1.00
IGL02799:Or4n4 UTSW 14 50,518,801 (GRCm39) missense probably benign
PIT4142001:Or4n4 UTSW 14 50,518,784 (GRCm39) makesense probably null
R0570:Or4n4 UTSW 14 50,519,370 (GRCm39) missense probably benign 0.00
R1570:Or4n4 UTSW 14 50,518,981 (GRCm39) missense probably damaging 1.00
R1860:Or4n4 UTSW 14 50,518,848 (GRCm39) nonsense probably null
R4594:Or4n4 UTSW 14 50,519,140 (GRCm39) missense probably benign 0.02
R6442:Or4n4 UTSW 14 50,518,826 (GRCm39) missense probably damaging 0.98
R6783:Or4n4 UTSW 14 50,519,644 (GRCm39) missense probably benign
R7334:Or4n4 UTSW 14 50,519,036 (GRCm39) missense probably benign 0.08
R7763:Or4n4 UTSW 14 50,518,945 (GRCm39) missense probably damaging 1.00
R8207:Or4n4 UTSW 14 50,519,036 (GRCm39) missense probably benign 0.02
R8228:Or4n4 UTSW 14 50,518,997 (GRCm39) missense probably damaging 1.00
R8806:Or4n4 UTSW 14 50,519,236 (GRCm39) missense probably benign 0.04
R8809:Or4n4 UTSW 14 50,519,236 (GRCm39) missense probably benign 0.04
R8898:Or4n4 UTSW 14 50,518,952 (GRCm39) missense probably damaging 1.00
R8962:Or4n4 UTSW 14 50,518,816 (GRCm39) missense possibly damaging 0.95
R9800:Or4n4 UTSW 14 50,519,701 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAGTGAATAAATCCTCCAAGCCAG -3'
(R):5'- ACATTCAGCGCTTGGTCTTTG -3'

Sequencing Primer
(F):5'- TGAATAAATCCTCCAAGCCAGAGAGC -3'
(R):5'- ATTTTCTACATCATCATCTTGCCTGG -3'
Posted On 2014-10-30