Incidental Mutation 'R8270:Or5p78'
ID 639445
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 067694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R8270 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 108211516-108212460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108212150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 212 (I212N)
Ref Sequence ENSEMBL: ENSMUSP00000076566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077343] [ENSMUST00000209296]
AlphaFold Q7TRU6
Predicted Effect probably benign
Transcript: ENSMUST00000077343
AA Change: I212N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000076566
Gene: ENSMUSG00000058244
AA Change: I212N

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1e-53 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209296
AA Change: I212N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 98% (52/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,651,163 (GRCm39) T3044I probably damaging Het
Apbb1ip C T 2: 22,765,004 (GRCm39) P562S unknown Het
Arhgap44 A G 11: 64,912,860 (GRCm39) M477T possibly damaging Het
Arhgef12 T C 9: 42,882,354 (GRCm39) T1497A probably benign Het
Atp5pd T C 11: 115,307,698 (GRCm39) D91G probably damaging Het
Atp6v0a4 A G 6: 38,051,164 (GRCm39) F405L probably damaging Het
Bicc1 T A 10: 70,767,938 (GRCm39) T893S probably damaging Het
Cacna1i T A 15: 80,257,835 (GRCm39) C1122S probably damaging Het
Capn7 A G 14: 31,080,636 (GRCm39) E369G probably damaging Het
Cass4 T A 2: 172,269,589 (GRCm39) L557Q probably damaging Het
Cdh5 A G 8: 104,839,672 (GRCm39) I48V probably benign Het
Crisp3 T C 17: 40,546,813 (GRCm39) K35R probably benign Het
Csde1 G A 3: 102,946,071 (GRCm39) A22T possibly damaging Het
Ctse T C 1: 131,595,877 (GRCm39) Y190H probably damaging Het
Cyp2d34 T A 15: 82,504,988 (GRCm39) D24V possibly damaging Het
D630045J12Rik A T 6: 38,167,658 (GRCm39) Y981* probably null Het
Dclre1a G A 19: 56,533,382 (GRCm39) T404I possibly damaging Het
Dmc1 T C 15: 79,485,746 (GRCm39) D23G probably damaging Het
Dnah8 C T 17: 31,059,687 (GRCm39) T4429M probably damaging Het
Esf1 A T 2: 139,997,033 (GRCm39) probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fn3k A T 11: 121,330,137 (GRCm39) M107L probably benign Het
Fxyd5 A G 7: 30,740,854 (GRCm39) L10P probably damaging Het
Gm21958 G A 3: 54,621,633 (GRCm39) probably benign Het
Gm4922 C T 10: 18,659,760 (GRCm39) D321N probably benign Het
Gtf2h3 A G 5: 124,734,050 (GRCm39) *310W probably null Het
Hapln2 G A 3: 87,930,851 (GRCm39) T180I possibly damaging Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Iqgap1 A G 7: 80,379,875 (GRCm39) V1166A probably damaging Het
Kcnk10 T C 12: 98,401,358 (GRCm39) N439S Het
Klhl3 A T 13: 58,260,968 (GRCm39) M15K Het
Klk1b26 A T 7: 43,665,544 (GRCm39) T151S probably benign Het
Krtap5-1 C A 7: 141,850,199 (GRCm39) C176F unknown Het
Krtap5-3 T A 7: 141,755,693 (GRCm39) C177S unknown Het
Lrrc37 T C 11: 103,434,141 (GRCm39) I3009M unknown Het
Map1a T C 2: 121,129,501 (GRCm39) F180L probably damaging Het
Mfap5 T C 6: 122,498,889 (GRCm39) probably null Het
Nckap1 T A 2: 80,355,008 (GRCm39) H638L possibly damaging Het
Optc C T 1: 133,832,810 (GRCm39) V97M probably benign Het
Or8b46 T G 9: 38,450,644 (GRCm39) M151R noncoding transcript Het
Piezo1 A G 8: 123,228,298 (GRCm39) Y330H Het
Ppp1r12b G T 1: 134,803,886 (GRCm39) N424K probably benign Het
Prdm5 T A 6: 65,913,058 (GRCm39) F580L probably damaging Het
Prr27 A C 5: 87,994,171 (GRCm39) K348N possibly damaging Het
Prr30 A G 14: 101,435,822 (GRCm39) Y247H possibly damaging Het
Rbks A T 5: 31,807,810 (GRCm39) probably benign Het
Sec24d T C 3: 123,099,535 (GRCm39) V336A possibly damaging Het
Serac1 A T 17: 6,101,033 (GRCm39) L457H probably damaging Het
Serpina1f A G 12: 103,659,757 (GRCm39) I175T probably damaging Het
Smr2l T C 5: 88,430,383 (GRCm39) V93A possibly damaging Het
Sspo A T 6: 48,426,897 (GRCm39) H242L probably benign Het
Tcaf2 A T 6: 42,606,958 (GRCm39) M332K probably benign Het
Tnrc6a T A 7: 122,769,294 (GRCm39) N361K possibly damaging Het
Trim43b G T 9: 88,967,458 (GRCm39) H393N possibly damaging Het
Ush2a T C 1: 188,176,838 (GRCm39) L1334S probably benign Het
Usp35 T C 7: 96,961,551 (GRCm39) E625G 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
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
R8794:Or5p78 UTSW 7 108,211,580 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- ACAAGTCTGTATCCAGTTGCTTG -3'
(R):5'- ACCACCTTGTTCTGGTCTGTAG -3'

Sequencing Primer
(F):5'- GCTTGTAGTAGCATACATAAGTGG -3'
(R):5'- GAGTAATTTGACTTGGGCATCAC -3'
Posted On 2020-07-28