Incidental Mutation 'R7065:Or5p78'
ID 548517
Institutional Source Beutler Lab
Gene Symbol Or5p78
Ensembl Gene ENSMUSG00000058244
Gene Name olfactory receptor family 5 subfamily P member 78
Synonyms Olfr506, MOR204-23, GA_x6K02T2PBJ9-10942040-10942984
MMRRC Submission 045161-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7065 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 108211516-108212460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108212266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 251 (V251I)
Ref Sequence ENSEMBL: ENSMUSP00000147623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077343] [ENSMUST00000209296]
AlphaFold Q7TRU6
Predicted Effect probably damaging
Transcript: ENSMUST00000077343
AA Change: V251I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076566
Gene: ENSMUSG00000058244
AA Change: V251I

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1e-53 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209296
AA Change: V251I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,074,233 (GRCm39) S1150Y probably damaging Het
Abca13 T A 11: 9,242,595 (GRCm39) V1486E probably benign Het
Abca17 T A 17: 24,546,725 (GRCm39) Y292F probably damaging Het
Adam3 A G 8: 25,201,691 (GRCm39) probably null Het
Ankmy2 G A 12: 36,237,707 (GRCm39) E269K probably damaging Het
Cdan1 A G 2: 120,549,402 (GRCm39) S1201P probably benign Het
Cep57 T C 9: 13,729,677 (GRCm39) Y122C probably damaging Het
Cfh T A 1: 140,014,140 (GRCm39) Y1210F probably damaging Het
Cflar T G 1: 58,770,368 (GRCm39) L154V probably damaging Het
Chmp4b A G 2: 154,533,162 (GRCm39) D134G probably damaging Het
Clec14a A G 12: 58,315,580 (GRCm39) F14S possibly damaging Het
Ctnna1 A T 18: 35,285,669 (GRCm39) H5L probably benign Het
Cyp2e1 T A 7: 140,343,906 (GRCm39) L48Q probably damaging Het
Dnah6 T G 6: 73,064,545 (GRCm39) Q2627P possibly damaging Het
Ehmt1 T C 2: 24,730,709 (GRCm39) D569G probably damaging Het
Frmd4a G A 2: 4,570,923 (GRCm39) Het
Fryl T C 5: 73,248,099 (GRCm39) D1006G probably damaging Het
Gclm A G 3: 122,056,320 (GRCm39) N137D probably benign Het
Gk5 A G 9: 96,061,109 (GRCm39) Y531C probably damaging Het
Gpm6a C A 8: 55,490,493 (GRCm39) N56K probably benign Het
Grik4 A C 9: 42,455,127 (GRCm39) V656G probably damaging Het
Grip2 C A 6: 91,760,550 (GRCm39) probably null Het
Gucy2c T C 6: 136,697,764 (GRCm39) K636E probably damaging Het
Ifi44l A G 3: 151,465,429 (GRCm39) I107T Het
Kif1b T C 4: 149,286,982 (GRCm39) T1237A possibly damaging Het
Klk1b11 A G 7: 43,648,386 (GRCm39) D131G probably benign Het
Lipe A G 7: 25,084,603 (GRCm39) probably null Het
Lrp4 A G 2: 91,341,925 (GRCm39) D1846G probably damaging Het
Madd A T 2: 90,985,402 (GRCm39) M1273K probably benign Het
Matn3 T A 12: 9,002,472 (GRCm39) M228K probably damaging Het
Mterf4 T A 1: 93,232,617 (GRCm39) H78L probably benign Het
Ncoa4 T A 14: 31,894,857 (GRCm39) L128* probably null Het
Nedd4l A G 18: 65,329,040 (GRCm39) N627S probably benign Het
Niban1 A G 1: 151,575,858 (GRCm39) probably null Het
Nphp3 A G 9: 103,919,189 (GRCm39) Y1279C probably damaging Het
Nrp1 C A 8: 129,187,193 (GRCm39) T413N probably benign Het
Opn4 C A 14: 34,317,834 (GRCm39) A267S probably benign Het
Or4c11c A T 2: 88,661,730 (GRCm39) I90F probably damaging Het
Or5ak24 A G 2: 85,260,523 (GRCm39) Y217H probably damaging Het
Or5al6 A C 2: 85,976,345 (GRCm39) H244Q probably damaging Het
Pax3 T C 1: 78,170,648 (GRCm39) probably null Het
Pcdha12 A G 18: 37,154,679 (GRCm39) E466G probably damaging Het
Pdzk1 A G 3: 96,775,748 (GRCm39) E372G probably benign Het
Pigs T A 11: 78,227,565 (GRCm39) V243D possibly damaging Het
Pla2g5 C A 4: 138,527,915 (GRCm39) C117F probably damaging Het
Ppt2 A G 17: 34,841,829 (GRCm39) S236P probably damaging Het
Raver1 T C 9: 21,001,590 (GRCm39) D81G probably benign Het
Rpgrip1 T C 14: 52,378,650 (GRCm39) L525P possibly damaging Het
Ryr1 T C 7: 28,803,068 (GRCm39) E662G probably damaging Het
Scaf8 G A 17: 3,209,486 (GRCm39) V66M probably damaging Het
Scn3a A C 2: 65,295,199 (GRCm39) L1508R probably benign Het
Semp2l2b T C 10: 21,943,197 (GRCm39) D261G probably benign Het
Slfn8 T C 11: 82,907,794 (GRCm39) R250G probably benign Het
Speer4d A C 5: 15,825,421 (GRCm39) T49P probably damaging Het
Spice1 T A 16: 44,175,898 (GRCm39) D32E probably damaging Het
Stt3b A G 9: 115,095,224 (GRCm39) L269P probably damaging Het
Ttn A G 2: 76,628,456 (GRCm39) I14568T possibly damaging Het
U2surp T C 9: 95,367,712 (GRCm39) T413A probably benign Het
Ubr3 A G 2: 69,784,049 (GRCm39) E755G probably damaging Het
Unc5a A T 13: 55,138,896 (GRCm39) S92C probably damaging Het
Zfat T C 15: 68,052,969 (GRCm39) Y275C probably damaging Het
Zfp874a A T 13: 67,590,401 (GRCm39) S428T probably damaging Het
Zfy1 A G Y: 725,428 (GRCm39) V779A probably benign Het
Other mutations in Or5p78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Or5p78 APN 7 108,212,261 (GRCm39) missense probably damaging 0.97
IGL02480:Or5p78 APN 7 108,212,018 (GRCm39) missense probably benign
IGL02802:Or5p78 UTSW 7 108,211,669 (GRCm39) missense probably damaging 0.99
R0294:Or5p78 UTSW 7 108,212,357 (GRCm39) missense probably damaging 1.00
R0398:Or5p78 UTSW 7 108,212,162 (GRCm39) missense probably benign 0.30
R0452:Or5p78 UTSW 7 108,211,577 (GRCm39) missense possibly damaging 0.62
R3788:Or5p78 UTSW 7 108,212,280 (GRCm39) nonsense probably null
R7345:Or5p78 UTSW 7 108,212,270 (GRCm39) missense probably benign 0.11
R7671:Or5p78 UTSW 7 108,212,198 (GRCm39) missense probably damaging 1.00
R8270:Or5p78 UTSW 7 108,212,150 (GRCm39) missense probably benign 0.21
R8794:Or5p78 UTSW 7 108,211,580 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAGTGGTTTTCTTAATGCATCCTCC -3'
(R):5'- AGTTGTCTCTTCAGAGCACC -3'

Sequencing Primer
(F):5'- TGAACTCTCTTGTTCTGATGACAG -3'
(R):5'- AGAGCACCCTTAATCTCATTATTCC -3'
Posted On 2019-05-13