Incidental Mutation 'R5223:Or4p8'
ID 402410
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 042796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5223 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88726918-88727992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88727678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 88 (T88A)
Ref Sequence ENSEMBL: ENSMUSP00000149695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]
AlphaFold Q8VG47
Predicted Effect probably benign
Transcript: ENSMUST00000099810
AA Change: T88A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: T88A

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.9e-48 PFAM
Pfam:7tm_1 38 284 2.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214121
AA Change: T88A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000214297
AA Change: T88A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,904,278 (GRCm39) V273M possibly damaging Het
Acin1 CCGC CC 14: 54,880,398 (GRCm39) probably null Het
Acvr1b T A 15: 101,091,857 (GRCm39) C46S probably damaging Het
Ahi1 A T 10: 20,846,818 (GRCm39) H416L possibly damaging Het
Aspm T A 1: 139,406,072 (GRCm39) L1653Q probably damaging Het
Cacna1a G A 8: 85,313,824 (GRCm39) V1533M possibly damaging Het
Ccdc33 C T 9: 57,940,267 (GRCm39) E502K possibly damaging Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Cyp2a12 A T 7: 26,735,888 (GRCm39) probably null Het
Dnai4 T A 4: 102,906,600 (GRCm39) S738C possibly damaging Het
Ep400 A G 5: 110,816,496 (GRCm39) V2675A probably damaging Het
Foxh1 T A 15: 76,552,929 (GRCm39) probably null Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gpnmb C T 6: 49,033,139 (GRCm39) T539M probably benign Het
Hdac1-ps A G 17: 78,799,867 (GRCm39) E286G probably benign Het
Hspa9 A G 18: 35,085,724 (GRCm39) probably null Het
Hspg2 T C 4: 137,271,225 (GRCm39) L2454P probably damaging Het
Ift140 T A 17: 25,254,786 (GRCm39) I422N probably benign Het
Igkv6-32 T C 6: 70,051,207 (GRCm39) S50G probably benign Het
Il23r T A 6: 67,463,154 (GRCm39) Y113F probably benign Het
Kcnt1 A G 2: 25,793,434 (GRCm39) D636G probably benign Het
Klhl41 G A 2: 69,510,171 (GRCm39) W569* probably null Het
Klra4 T A 6: 130,039,110 (GRCm39) D94V probably damaging Het
Lca5 T A 9: 83,280,666 (GRCm39) H378L probably benign Het
Lhx8 T A 3: 154,027,281 (GRCm39) T254S probably damaging Het
Lrch3 C T 16: 32,734,767 (GRCm39) R86W probably damaging Het
Lrp2 T A 2: 69,354,397 (GRCm39) N477I probably damaging Het
Man2a1 T A 17: 65,019,266 (GRCm39) I710K probably benign Het
Ncor1 A T 11: 62,229,826 (GRCm39) Y881N probably damaging Het
Nhsl1 T A 10: 18,402,074 (GRCm39) V1100E probably damaging Het
Oprk1 T C 1: 5,659,519 (GRCm39) V83A probably benign Het
Or5p62 A G 7: 107,771,915 (GRCm39) V12A probably benign Het
Or7g35 T C 9: 19,496,322 (GRCm39) V163A probably benign Het
Pacs1 C T 19: 5,195,169 (GRCm39) V472I probably benign Het
Pard3b T C 1: 62,383,272 (GRCm39) Y789H probably damaging Het
Pcdha2 T C 18: 37,073,844 (GRCm39) Y492H probably damaging Het
Pcnt T C 10: 76,216,106 (GRCm39) N2261D probably damaging Het
Pex5l A T 3: 33,012,945 (GRCm39) S15T probably damaging Het
Plekhg4 A G 8: 106,105,581 (GRCm39) N682S probably benign Het
Poc5 A T 13: 96,539,463 (GRCm39) M335L probably benign Het
Polr1a C T 6: 71,944,891 (GRCm39) R1316W possibly damaging Het
Pp2d1 T C 17: 53,814,873 (GRCm39) H617R probably benign Het
Pramel24 T A 4: 143,454,591 (GRCm39) S296R probably benign Het
Prpsap1 T C 11: 116,378,974 (GRCm39) K65E probably benign Het
Ptgfrn T C 3: 100,952,909 (GRCm39) E775G probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Rbbp8 C A 18: 11,854,747 (GRCm39) A324E probably benign Het
Rfx6 G T 10: 51,554,092 (GRCm39) G63* probably null Het
Rpl37a T C 1: 72,751,308 (GRCm39) M47T probably benign Het
Samm50 T G 15: 84,084,831 (GRCm39) N187K probably benign Het
Skic2 A G 17: 35,064,142 (GRCm39) probably null Het
Slamf9 T C 1: 172,303,799 (GRCm39) I48T possibly damaging Het
Slc2a12 A G 10: 22,577,931 (GRCm39) K576E probably damaging Het
Slc4a10 G A 2: 62,083,710 (GRCm39) G388S probably damaging Het
Smtn G T 11: 3,479,530 (GRCm39) N512K probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sspo A G 6: 48,455,258 (GRCm39) Y3040C probably damaging Het
Stat1 T A 1: 52,183,401 (GRCm39) V389E probably damaging Het
Sult5a1 A T 8: 123,872,161 (GRCm39) M227K probably damaging Het
Thsd4 T C 9: 59,964,325 (GRCm39) D389G probably damaging Het
Tnxb T C 17: 34,923,052 (GRCm39) V2545A possibly damaging Het
Tpo T A 12: 30,142,589 (GRCm39) I712F probably damaging Het
Trim62 T C 4: 128,803,204 (GRCm39) V418A probably damaging Het
Uqcrc1 C A 9: 108,771,224 (GRCm39) H95N probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r66 T C 7: 84,657,093 (GRCm39) D104G probably benign Het
Wdr26 T C 1: 181,015,251 (GRCm39) I371V probably benign Het
Zfp273 T G 13: 67,974,298 (GRCm39) C475W probably damaging Het
Zfp738 G T 13: 67,821,182 (GRCm39) T55K probably damaging Het
Zmym2 A G 14: 57,183,971 (GRCm39) I978V probably benign 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
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
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'- TGCCACAAAAGGGAAGTCTG -3'
(R):5'- GCTATCTTGCAATTCTCTGTGG -3'

Sequencing Primer
(F):5'- CCAGTACATGCACAAGTGAGTG -3'
(R):5'- GCAATTCTCTGTGGAAACCTG -3'
Posted On 2016-07-22