Incidental Mutation 'IGL02374:Or4p8'
ID 291019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4p8
Ensembl Gene ENSMUSG00000075114
Gene Name olfactory receptor family 4 subfamily P member 8
Synonyms MOR225-4, Olfr1208, GA_x6K02T2Q125-50372411-50371485
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02374
Quality Score
Status
Chromosome 2
Chromosomal Location 88726918-88727992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88727803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 46 (I46N)
Ref Sequence ENSEMBL: ENSMUSP00000149695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]
AlphaFold Q8VG47
Predicted Effect probably damaging
Transcript: ENSMUST00000099810
AA Change: I46N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: I46N

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.9e-48 PFAM
Pfam:7tm_1 38 284 2.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214121
AA Change: I46N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214297
AA Change: I46N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,073,003 (GRCm39) Y35H probably damaging Het
Cnksr3 A G 10: 7,070,335 (GRCm39) S300P probably damaging Het
Col27a1 T C 4: 63,211,486 (GRCm39) S1013P possibly damaging Het
Cyp39a1 A G 17: 44,060,872 (GRCm39) probably benign Het
Deptor G T 15: 55,044,357 (GRCm39) L174F probably damaging Het
Fah T C 7: 84,254,909 (GRCm39) E8G probably benign Het
Fastk C A 5: 24,649,247 (GRCm39) A47S possibly damaging Het
Foxl2 C T 9: 98,837,885 (GRCm39) L58F probably damaging Het
Gm57858 T C 3: 36,074,108 (GRCm39) Q347R possibly damaging Het
Igf2bp2 G T 16: 21,900,618 (GRCm39) H106Q probably benign Het
Igkv12-47 T C 6: 69,727,959 (GRCm39) T71A probably benign Het
Ino80d T C 1: 63,125,220 (GRCm39) I81V possibly damaging Het
Ints9 G A 14: 65,276,782 (GRCm39) E650K probably benign Het
Klc2 T C 19: 5,160,438 (GRCm39) N408S possibly damaging Het
Klhl32 A T 4: 24,743,856 (GRCm39) probably null Het
Ksr1 C T 11: 78,919,317 (GRCm39) G504D probably benign Het
Lonp2 C A 8: 87,435,673 (GRCm39) D636E probably damaging Het
Lpin3 G A 2: 160,737,758 (GRCm39) probably benign Het
Mcmdc2 C T 1: 9,982,207 (GRCm39) A56V possibly damaging Het
Or10al7 A T 17: 38,366,412 (GRCm39) V24D probably damaging Het
Pex1 T C 5: 3,685,481 (GRCm39) I1163T probably benign Het
Ppp1r3a C T 6: 14,718,599 (GRCm39) V772I probably damaging Het
Ptbp2 A T 3: 119,514,342 (GRCm39) probably benign Het
Rell1 A T 5: 64,095,151 (GRCm39) I105K possibly damaging Het
Sis A T 3: 72,832,789 (GRCm39) S1003T probably benign Het
Slc26a3 T A 12: 31,520,832 (GRCm39) probably benign Het
Stap1 G A 5: 86,244,410 (GRCm39) G264R probably damaging Het
Tmem176b T C 6: 48,811,560 (GRCm39) N30D possibly damaging Het
Tmprss15 A T 16: 78,832,056 (GRCm39) Y367N probably benign Het
Ttc41 A G 10: 86,611,815 (GRCm39) D1061G probably damaging Het
Ufl1 A C 4: 25,259,237 (GRCm39) D460E probably benign Het
Vmn2r104 T C 17: 20,263,048 (GRCm39) I138V probably benign Het
Wdfy2 T C 14: 63,171,833 (GRCm39) S194P probably benign Het
Zfp408 A C 2: 91,476,156 (GRCm39) C333G probably damaging Het
Zfp592 T C 7: 80,674,731 (GRCm39) V565A probably damaging Het
Other mutations in Or4p8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Or4p8 APN 2 88,727,321 (GRCm39) missense probably damaging 1.00
IGL02132:Or4p8 APN 2 88,727,503 (GRCm39) missense probably benign
R1378:Or4p8 UTSW 2 88,727,370 (GRCm39) missense probably benign 0.01
R1570:Or4p8 UTSW 2 88,727,290 (GRCm39) missense probably damaging 1.00
R2056:Or4p8 UTSW 2 88,727,105 (GRCm39) missense probably damaging 1.00
R2092:Or4p8 UTSW 2 88,727,611 (GRCm39) missense probably damaging 0.99
R2185:Or4p8 UTSW 2 88,727,047 (GRCm39) missense probably damaging 0.99
R5223:Or4p8 UTSW 2 88,727,678 (GRCm39) missense probably benign 0.03
R5479:Or4p8 UTSW 2 88,727,035 (GRCm39) missense probably benign 0.13
R6463:Or4p8 UTSW 2 88,727,462 (GRCm39) missense probably benign 0.00
R6859:Or4p8 UTSW 2 88,727,278 (GRCm39) missense probably benign
R7347:Or4p8 UTSW 2 88,727,615 (GRCm39) missense possibly damaging 0.51
R7352:Or4p8 UTSW 2 88,727,062 (GRCm39) missense probably damaging 1.00
R7544:Or4p8 UTSW 2 88,727,705 (GRCm39) missense probably damaging 1.00
R7713:Or4p8 UTSW 2 88,728,122 (GRCm39) start gained probably benign
R7842:Or4p8 UTSW 2 88,727,305 (GRCm39) missense possibly damaging 0.89
R7869:Or4p8 UTSW 2 88,727,408 (GRCm39) missense probably benign 0.00
R8137:Or4p8 UTSW 2 88,727,013 (GRCm39) makesense probably null
R8168:Or4p8 UTSW 2 88,727,120 (GRCm39) missense probably benign 0.09
R8556:Or4p8 UTSW 2 88,727,382 (GRCm39) nonsense probably null
R8967:Or4p8 UTSW 2 88,727,844 (GRCm39) nonsense probably null
R9092:Or4p8 UTSW 2 88,727,321 (GRCm39) missense probably damaging 1.00
R9221:Or4p8 UTSW 2 88,727,255 (GRCm39) missense probably benign
Z1176:Or4p8 UTSW 2 88,727,405 (GRCm39) missense probably damaging 1.00
Z1177:Or4p8 UTSW 2 88,727,144 (GRCm39) nonsense probably null
Posted On 2015-04-16