Incidental Mutation 'R3694:Or4p18'
ID 268893
Institutional Source Beutler Lab
Gene Symbol Or4p18
Ensembl Gene ENSMUSG00000075127
Gene Name olfactory receptor family 4 subfamily P member 18
Synonyms MOR225-2, GA_x6K02T2Q125-49890854-49889931, Olfr1179
MMRRC Submission 040689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3694 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88232353-88233276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88232540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 246 (I246N)
Ref Sequence ENSEMBL: ENSMUSP00000151174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099825] [ENSMUST00000213157] [ENSMUST00000214040]
AlphaFold A2AUS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099825
AA Change: I246N

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097413
Gene: ENSMUSG00000075127
AA Change: I246N

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-47 PFAM
Pfam:7tm_1 39 285 3e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213157
AA Change: I246N

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000214040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219086
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,284,443 (GRCm39) I97V possibly damaging Het
AI182371 A G 2: 34,975,764 (GRCm39) C267R probably benign Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp8b1 G A 18: 64,666,792 (GRCm39) T1135I possibly damaging Het
Avil T C 10: 126,844,199 (GRCm39) Y253H probably damaging Het
Bcas3 G T 11: 85,692,628 (GRCm39) V338L probably benign Het
Cabp2 A G 19: 4,133,593 (GRCm39) T12A probably benign Het
Ccdc158 T C 5: 92,757,904 (GRCm39) E1056G probably damaging Het
Clcn7 T A 17: 25,378,681 (GRCm39) I722N probably damaging Het
Cnga3 T C 1: 37,300,821 (GRCm39) Y552H probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyp3a25 A T 5: 145,926,786 (GRCm39) probably null Het
Dmrta1 T A 4: 89,580,415 (GRCm39) Y458* probably null Het
Eya1 A G 1: 14,299,725 (GRCm39) Y343H probably damaging Het
Fads2b T G 2: 85,324,454 (GRCm39) I291L probably benign Het
Fbln5 T C 12: 101,731,511 (GRCm39) N228D probably benign Het
Fmo5 T C 3: 97,553,230 (GRCm39) F393L probably damaging Het
Gpr63 A G 4: 25,007,993 (GRCm39) Y239C probably damaging Het
Ints2 T C 11: 86,133,827 (GRCm39) M408V probably benign Het
Lztr1 G A 16: 17,326,925 (GRCm39) A12T possibly damaging Het
Magi2 A AG 5: 20,807,459 (GRCm39) probably null Het
Mutyh T A 4: 116,673,651 (GRCm39) S146T possibly damaging Het
Obscn T C 11: 58,969,221 (GRCm39) K2460E probably damaging Het
Or5b112 T C 19: 13,319,893 (GRCm39) I257T possibly damaging Het
Ppfia4 G T 1: 134,240,305 (GRCm39) T896K probably damaging Het
Ppp2r2a C A 14: 67,257,199 (GRCm39) D344Y probably damaging Het
Rbm4 A G 19: 4,837,411 (GRCm39) Y358H probably damaging Het
Scn9a T G 2: 66,392,749 (GRCm39) E281A probably benign Het
Strn T C 17: 78,964,421 (GRCm39) N515D probably damaging Het
Stxbp5l A T 16: 37,061,708 (GRCm39) Y367* probably null Het
Syt7 G T 19: 10,413,000 (GRCm39) R265L possibly damaging Het
Tub A G 7: 108,627,039 (GRCm39) S313G probably benign Het
Vmn2r18 A G 5: 151,508,033 (GRCm39) F364L probably benign Het
Vmn2r77 A G 7: 86,450,044 (GRCm39) N97D probably damaging Het
Vmn2r85 A G 10: 130,254,171 (GRCm39) S838P probably damaging Het
Vmn2r92 T A 17: 18,372,205 (GRCm39) L5* probably null Het
Zfyve28 A G 5: 34,374,812 (GRCm39) F401L probably damaging Het
Other mutations in Or4p18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Or4p18 APN 2 88,232,421 (GRCm39) missense possibly damaging 0.95
IGL02445:Or4p18 APN 2 88,232,456 (GRCm39) missense possibly damaging 0.60
R0127:Or4p18 UTSW 2 88,232,699 (GRCm39) missense probably benign 0.05
R0604:Or4p18 UTSW 2 88,232,727 (GRCm39) missense probably benign 0.03
R1526:Or4p18 UTSW 2 88,232,777 (GRCm39) missense probably damaging 1.00
R1816:Or4p18 UTSW 2 88,232,943 (GRCm39) missense possibly damaging 0.65
R2041:Or4p18 UTSW 2 88,232,568 (GRCm39) missense probably damaging 1.00
R4229:Or4p18 UTSW 2 88,233,227 (GRCm39) missense possibly damaging 0.67
R4735:Or4p18 UTSW 2 88,233,267 (GRCm39) missense probably benign 0.02
R4974:Or4p18 UTSW 2 88,232,756 (GRCm39) missense probably damaging 1.00
R5173:Or4p18 UTSW 2 88,233,266 (GRCm39) missense probably benign 0.00
R5909:Or4p18 UTSW 2 88,232,535 (GRCm39) missense probably damaging 0.98
R6931:Or4p18 UTSW 2 88,232,408 (GRCm39) missense probably benign 0.01
R6990:Or4p18 UTSW 2 88,232,639 (GRCm39) missense probably benign 0.13
R7167:Or4p18 UTSW 2 88,232,552 (GRCm39) missense possibly damaging 0.46
R8121:Or4p18 UTSW 2 88,233,040 (GRCm39) missense probably benign
R8140:Or4p18 UTSW 2 88,232,457 (GRCm39) missense possibly damaging 0.74
R8269:Or4p18 UTSW 2 88,232,381 (GRCm39) missense probably damaging 0.98
R8832:Or4p18 UTSW 2 88,233,137 (GRCm39) missense probably damaging 0.98
R9269:Or4p18 UTSW 2 88,232,586 (GRCm39) missense probably benign 0.06
Z1176:Or4p18 UTSW 2 88,232,466 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCACCAAACTTTTCTCAAGG -3'
(R):5'- TGGCCACAATGAGATGGATCAC -3'

Sequencing Primer
(F):5'- GCACCAAACTTTTCTCAAGGCATTC -3'
(R):5'- GCCACAATGAGATGGATCACTATTTC -3'
Posted On 2015-02-19