Incidental Mutation 'R2056:Or4p8'
ID 228160
Institutional Source Beutler Lab
Gene Symbol Or4p8
Ensembl Gene ENSMUSG00000075114
Gene Name olfactory receptor family 4 subfamily P member 8
Synonyms MOR225-4, Olfr1208, GA_x6K02T2Q125-50372411-50371485
MMRRC Submission 040061-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R2056 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88726918-88727992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88727105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 279 (F279L)
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: F279L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: F279L

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: F279L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214297
AA Change: F279L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adh1 A G 3: 137,992,676 (GRCm39) D264G probably damaging Het
Ahnak2 T A 12: 112,748,626 (GRCm39) D407V probably benign Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,809,553 (GRCm39) I662V possibly damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apc A G 18: 34,449,481 (GRCm39) R2092G probably damaging Het
Arhgap18 C T 10: 26,730,904 (GRCm39) T122I probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Brap G A 5: 121,801,529 (GRCm39) G95S probably damaging Het
Cbfa2t2 G A 2: 154,377,077 (GRCm39) A587T probably damaging Het
Ccdc180 A G 4: 45,932,477 (GRCm39) I1308V probably benign Het
Ccser1 T A 6: 61,399,936 (GRCm39) probably null Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cmtm4 A C 8: 105,081,920 (GRCm39) F156V probably damaging Het
Cntln G A 4: 84,967,911 (GRCm39) R710K probably benign Het
Csn1s1 A T 5: 87,819,387 (GRCm39) T15S possibly damaging Het
Cul9 T C 17: 46,854,298 (GRCm39) T135A probably benign Het
Cyp2d10 T A 15: 82,288,015 (GRCm39) I363F probably damaging Het
Dhx38 G T 8: 110,289,352 (GRCm39) probably benign Het
Dis3 A T 14: 99,336,251 (GRCm39) I85N possibly damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dscaml1 A G 9: 45,661,430 (GRCm39) D1776G probably damaging Het
Erbin A G 13: 103,966,824 (GRCm39) S1209P probably benign Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fbxo45 G T 16: 32,057,346 (GRCm39) Q183K possibly damaging Het
Frmd4b C T 6: 97,389,448 (GRCm39) probably null Het
Fzd7 A G 1: 59,523,361 (GRCm39) S415G probably benign Het
Gpd2 T A 2: 57,229,025 (GRCm39) probably null Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Gstcd T C 3: 132,787,814 (GRCm39) I295V probably benign Het
Gucy1a1 A G 3: 82,016,592 (GRCm39) L132P possibly damaging Het
Il12b A C 11: 44,298,727 (GRCm39) T61P probably damaging Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Itih3 A C 14: 30,631,481 (GRCm39) probably null Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Kif11 A G 19: 37,390,660 (GRCm39) N408D probably benign Het
Kng2 TATGACCATGACCATGACCATGACCATGACCATGACCAT TATGACCATGACCATGACCATGACCATGACCAT 16: 22,806,703 (GRCm39) probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Krt9 G T 11: 100,082,321 (GRCm39) N201K probably damaging Het
Lmbr1 G A 5: 29,438,092 (GRCm39) P304L probably benign Het
Lrrfip1 A G 1: 91,043,539 (GRCm39) N648S probably benign Het
Mab21l3 C A 3: 101,722,469 (GRCm39) V386L possibly damaging Het
Mamdc4 T C 2: 25,454,180 (GRCm39) Q1149R probably benign Het
Mast1 A G 8: 85,646,995 (GRCm39) F677L possibly damaging Het
Mcoln3 A G 3: 145,833,979 (GRCm39) D173G probably benign Het
Mmrn1 C T 6: 60,921,789 (GRCm39) T82I probably benign Het
Mtcl2 C T 2: 156,864,747 (GRCm39) G1154S probably benign Het
Muc5ac A G 7: 141,345,772 (GRCm39) T203A probably benign Het
Myo9b T C 8: 71,812,334 (GRCm39) I2035T possibly damaging Het
Ndst3 T C 3: 123,465,534 (GRCm39) N146S probably damaging Het
Neu4 A G 1: 93,950,172 (GRCm39) T21A possibly damaging Het
Nos1ap G A 1: 170,155,215 (GRCm39) L267F probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or3a4 A T 11: 73,944,819 (GRCm39) Y255* probably null Het
Phc1 T C 6: 122,310,299 (GRCm39) N136S probably damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Psd2 A G 18: 36,139,744 (GRCm39) D596G possibly damaging Het
Psmc3 T C 2: 90,888,433 (GRCm39) F315L probably benign Het
Rerg G A 6: 137,034,878 (GRCm39) T42I probably benign Het
Rif1 T A 2: 51,983,588 (GRCm39) M577K probably damaging Het
Sap30 T C 8: 57,940,282 (GRCm39) probably null Het
Scn2b T C 9: 45,036,815 (GRCm39) Y108H probably damaging Het
Senp2 C T 16: 21,832,949 (GRCm39) T79I probably damaging Het
Serpinb2 T C 1: 107,451,543 (GRCm39) V232A probably damaging Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Slc27a4 T C 2: 29,700,953 (GRCm39) W320R probably damaging Het
Spmip4 T C 6: 50,550,725 (GRCm39) R575G possibly damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Thbs4 T A 13: 92,927,387 (GRCm39) D34V probably benign Het
Tlcd4 T G 3: 121,001,070 (GRCm39) I188L probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmod2 T C 9: 75,484,524 (GRCm39) E248G probably benign Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ttn T C 2: 76,615,882 (GRCm39) D8360G possibly damaging Het
Unc80 A G 1: 66,679,711 (GRCm39) E2094G possibly damaging Het
Vmn2r18 A T 5: 151,508,160 (GRCm39) D321E 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
IGL02374:Or4p8 APN 2 88,727,803 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTTGGCTATGCACCATCTTG -3'
(R):5'- GTGATGTCCATTCTGACCTTTG -3'

Sequencing Primer
(F):5'- GGCTATGCACCATCTTGTTATC -3'
(R):5'- ACATCATCATTTTGTCCATCTTGAGG -3'
Posted On 2014-09-17