Incidental Mutation 'IGL02802:Or5p78'
ID 392089
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02802 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 108211516-108212460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108211669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 52 (I52F)
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: I52F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076566
Gene: ENSMUSG00000058244
AA Change: I52F

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: I52F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.4745 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (63/63)
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
AA986860 A C 1: 130,671,130 (GRCm39) T451P probably benign Het
Actbl2 A G 13: 111,392,310 (GRCm39) E215G probably damaging Het
Adh6b A G 3: 138,058,545 (GRCm39) T198A possibly damaging Het
Bicd2 A G 13: 49,531,804 (GRCm39) K349E probably damaging Het
Bsnd T A 4: 106,349,231 (GRCm39) D3V probably damaging Het
Cd83 T A 13: 43,953,147 (GRCm39) L142Q probably null Het
Cdh20 A G 1: 110,065,655 (GRCm39) E643G probably damaging Het
Ces1b T G 8: 93,783,594 (GRCm39) E542A possibly damaging Het
Cfhr2 A G 1: 139,738,762 (GRCm39) probably benign Het
Clip1 T C 5: 123,769,186 (GRCm39) D471G probably damaging Het
Cntn5 C A 9: 10,048,683 (GRCm39) probably null Het
Cntnap2 A T 6: 46,147,179 (GRCm39) D475V probably damaging Het
Cntnap5c T C 17: 58,612,679 (GRCm39) F906S probably benign Het
Cobll1 A T 2: 64,928,663 (GRCm39) S888T probably damaging Het
Csf2rb G A 15: 78,223,103 (GRCm39) R105Q probably benign Het
Ctnnd1 C A 2: 84,454,806 (GRCm39) M1I probably null Het
Cxxc1 C T 18: 74,352,481 (GRCm39) Q354* probably null Het
Dnhd1 A G 7: 105,304,930 (GRCm39) D324G possibly damaging Het
Donson T C 16: 91,478,196 (GRCm39) D435G possibly damaging Het
Ephb1 T C 9: 101,887,218 (GRCm39) K474E possibly damaging Het
Erbin A G 13: 104,004,638 (GRCm39) L130P probably damaging Het
Fam221a C T 6: 49,355,411 (GRCm39) T171I probably damaging Het
Farp2 A G 1: 93,456,332 (GRCm39) E5G probably damaging Het
Fblim1 A G 4: 141,317,431 (GRCm39) S85P possibly damaging Het
Fhl2 A T 1: 43,162,761 (GRCm39) C251* probably null Het
Glis2 T C 16: 4,429,735 (GRCm39) probably null Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gm10717 C T 9: 3,031,999 (GRCm39) P127S probably benign Het
Heatr6 T C 11: 83,651,762 (GRCm39) L246P probably damaging Het
Igkv5-39 G A 6: 69,877,457 (GRCm39) P100S probably benign Het
Jup T C 11: 100,269,204 (GRCm39) D403G probably benign Het
Kank1 T C 19: 25,388,963 (GRCm39) Y879H probably damaging Het
Kcna3 G A 3: 106,944,369 (GRCm39) E211K probably damaging Het
Klc3 A T 7: 19,129,049 (GRCm39) I440N possibly damaging Het
Mmp1b T C 9: 7,384,709 (GRCm39) T280A probably benign Het
Nat3 A T 8: 68,000,160 (GRCm39) Q13L probably benign Het
Nckap1l A G 15: 103,372,963 (GRCm39) N272S probably benign Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Nsd3 T C 8: 26,130,922 (GRCm39) S96P probably damaging Het
Ntaq1 A G 15: 58,011,833 (GRCm39) S65G probably benign Het
Nudt16l1 C T 16: 4,757,131 (GRCm39) R43C probably damaging Het
Obscn T A 11: 58,891,310 (GRCm39) Q7074L unknown Het
Or4p20 A G 2: 88,253,832 (GRCm39) V179A probably benign Het
Or5m12 A G 2: 85,734,733 (GRCm39) S222P probably damaging Het
Or6c206 T A 10: 129,097,136 (GRCm39) probably null Het
Or8b37 T G 9: 37,959,345 (GRCm39) Y276D probably damaging Het
Or8k30 T A 2: 86,339,290 (GRCm39) N162K probably benign Het
P4htm C T 9: 108,460,055 (GRCm39) D240N probably benign Het
Plekhm2 A T 4: 141,369,835 (GRCm39) probably benign Het
Plppr5 T C 3: 117,456,228 (GRCm39) S250P probably damaging Het
Pmis2 T C 7: 30,370,919 (GRCm39) K12E probably benign Het
Ppox A T 1: 171,105,066 (GRCm39) L374* probably null Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Tdo2 A G 3: 81,883,004 (GRCm39) probably benign Het
Tent2 A T 13: 93,285,449 (GRCm39) N436K probably damaging Het
Thbs2 A G 17: 14,904,389 (GRCm39) I326T probably benign Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Ttc6 A T 12: 57,622,654 (GRCm39) M18L probably benign Het
Ttn C T 2: 76,604,924 (GRCm39) V18337I probably damaging Het
Txndc2 A G 17: 65,946,601 (GRCm39) S34P possibly damaging Het
Vps72 T A 3: 95,026,545 (GRCm39) C163* probably null Het
Zfp831 T A 2: 174,486,945 (GRCm39) I540N possibly damaging 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
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
R7065:Or5p78 UTSW 7 108,212,266 (GRCm39) missense probably damaging 0.99
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'- TCCATCACAGCCTTGATCCG -3'
(R):5'- TGGCAGCTAGAACAAAGCACTC -3'

Sequencing Primer
(F):5'- TTGATCCGGCAGCAGTTACAC -3'
(R):5'- TGTTCCAAAGAAAGCACCTGAG -3'
Posted On 2016-06-09