Incidental Mutation 'R7019:Or5p50'
ID 545506
Institutional Source Beutler Lab
Gene Symbol Or5p50
Ensembl Gene ENSMUSG00000095910
Gene Name olfactory receptor family 5 subfamily P member 50
Synonyms MOR204-21, GA_x6K02T2PBJ9-10152980-10152036, Olfr469
MMRRC Submission 045120-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R7019 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107421730-107422674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107422365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 104 (L104I)
Ref Sequence ENSEMBL: ENSMUSP00000150486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075704] [ENSMUST00000213252]
AlphaFold Q8VF66
Predicted Effect probably benign
Transcript: ENSMUST00000075704
AA Change: L104I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075122
Gene: ENSMUSG00000095910
AA Change: L104I

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.3e-53 PFAM
Pfam:7tm_1 44 293 2.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213252
AA Change: L104I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.2064 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,436,395 (GRCm39) K414* probably null Het
Aco1 T A 4: 40,186,376 (GRCm39) I596N probably damaging Het
Adgre1 A C 17: 57,717,945 (GRCm39) D319A probably damaging Het
Birc6 T C 17: 74,916,340 (GRCm39) V445A probably benign Het
Btd A C 14: 31,389,062 (GRCm39) Q261P probably damaging Het
Btd G T 14: 31,389,063 (GRCm39) Q261H possibly damaging Het
C7 T A 15: 5,075,164 (GRCm39) Y176F probably benign Het
Ccdc102a T C 8: 95,636,431 (GRCm39) S287G probably benign Het
Ccdc178 T A 18: 22,283,495 (GRCm39) T12S probably benign Het
Cnga4 G T 7: 105,055,036 (GRCm39) A104S probably benign Het
Col10a1 G T 10: 34,270,947 (GRCm39) L306F probably damaging Het
Cpne5 T C 17: 29,445,196 (GRCm39) D36G probably damaging Het
Csmd2 G A 4: 128,262,856 (GRCm39) D681N Het
Cspg4b C T 13: 113,488,284 (GRCm39) T102I probably benign Het
Cstl1 A G 2: 148,597,223 (GRCm39) M75V probably benign Het
Cyp26a1 T C 19: 37,687,260 (GRCm39) L149P probably damaging Het
D630045J12Rik T G 6: 38,171,570 (GRCm39) E866A probably benign Het
Dlec1 C T 9: 118,941,490 (GRCm39) P292L probably benign Het
Dpp3 T G 19: 4,966,817 (GRCm39) E402A possibly damaging Het
Egf T C 3: 129,511,713 (GRCm39) probably null Het
Epha5 T C 5: 84,564,321 (GRCm39) Q15R possibly damaging Het
Esyt3 A G 9: 99,197,338 (GRCm39) F831L probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fut7 A G 2: 25,315,792 (GRCm39) D350G probably benign Het
Gab1 C A 8: 81,511,446 (GRCm39) E466D probably damaging Het
Glrp1 A T 1: 88,430,890 (GRCm39) M160K unknown Het
Gngt1 T C 6: 3,994,088 (GRCm39) probably null Het
Gprc6a A T 10: 51,507,508 (GRCm39) V7E possibly damaging Het
Idh3b A T 2: 130,122,886 (GRCm39) V301D probably damaging Het
Ifi202b A C 1: 173,791,524 (GRCm39) C385G probably benign Het
Ilvbl T A 10: 78,414,920 (GRCm39) L261Q probably damaging Het
Irx6 T A 8: 93,405,362 (GRCm39) L410Q probably damaging Het
Ism2 T C 12: 87,346,437 (GRCm39) M15V unknown Het
Itih5 C A 2: 10,195,138 (GRCm39) R177S probably damaging Het
Klra3 C T 6: 130,304,087 (GRCm39) G202R probably damaging Het
Krt7 T C 15: 101,311,851 (GRCm39) V103A probably damaging Het
Lama3 T C 18: 12,661,475 (GRCm39) S2145P probably damaging Het
Mlph A G 1: 90,869,428 (GRCm39) R477G probably damaging Het
Mybpc1 T A 10: 88,379,581 (GRCm39) L653F probably damaging Het
Myrfl A G 10: 116,617,852 (GRCm39) probably null Het
Myrip T G 9: 120,251,573 (GRCm39) L232R probably damaging Het
Nrdc A T 4: 108,885,999 (GRCm39) H126L probably benign Het
Or4n5 A T 14: 50,133,124 (GRCm39) I45N probably damaging Het
Or8c11 T A 9: 38,290,098 (GRCm39) L307Q possibly damaging Het
Pcdhb10 T A 18: 37,546,056 (GRCm39) N377K probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Prkdc A C 16: 15,587,830 (GRCm39) I2572L probably benign Het
Ptpro C A 6: 137,357,476 (GRCm39) D322E probably benign Het
R3hcc1 A G 14: 69,941,574 (GRCm39) I332T probably damaging Het
Rab8a T C 8: 72,915,227 (GRCm39) F9L probably damaging Het
Ranbp3l A T 15: 9,057,241 (GRCm39) K165N probably damaging Het
Rock2 T A 12: 17,027,741 (GRCm39) C1353S probably damaging Het
Rsad2 T A 12: 26,506,418 (GRCm39) M1L possibly damaging Het
Tymp A T 15: 89,260,484 (GRCm39) probably null Het
Vmn1r104 A G 7: 20,268,491 (GRCm39) M244V probably benign Het
Vmn1r232 G A 17: 21,133,547 (GRCm39) T351M possibly damaging Het
Vmn2r50 A G 7: 9,784,172 (GRCm39) Y101H probably benign Het
Vmn2r57 A G 7: 41,078,089 (GRCm39) L123P probably damaging Het
Wdr17 T C 8: 55,134,488 (GRCm39) N331D probably damaging Het
Wdr47 C T 3: 108,521,671 (GRCm39) Q89* probably null Het
Zcchc4 A T 5: 52,941,375 (GRCm39) T57S probably benign Het
Other mutations in Or5p50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02205:Or5p50 APN 7 107,421,798 (GRCm39) missense probably damaging 1.00
IGL02252:Or5p50 APN 7 107,422,353 (GRCm39) missense probably benign 0.04
R0365:Or5p50 UTSW 7 107,422,124 (GRCm39) nonsense probably null
R0647:Or5p50 UTSW 7 107,422,218 (GRCm39) missense probably benign 0.02
R0863:Or5p50 UTSW 7 107,422,581 (GRCm39) missense probably benign
R1830:Or5p50 UTSW 7 107,422,578 (GRCm39) missense probably benign 0.02
R2189:Or5p50 UTSW 7 107,421,822 (GRCm39) missense probably benign 0.09
R2316:Or5p50 UTSW 7 107,422,007 (GRCm39) missense probably benign 0.25
R6187:Or5p50 UTSW 7 107,421,781 (GRCm39) missense probably benign
R6305:Or5p50 UTSW 7 107,421,864 (GRCm39) missense probably benign 0.01
R6774:Or5p50 UTSW 7 107,422,395 (GRCm39) missense probably benign 0.06
R7205:Or5p50 UTSW 7 107,421,782 (GRCm39) missense probably benign 0.01
R7466:Or5p50 UTSW 7 107,422,129 (GRCm39) nonsense probably null
R8128:Or5p50 UTSW 7 107,422,632 (GRCm39) missense probably damaging 1.00
R8251:Or5p50 UTSW 7 107,421,776 (GRCm39) missense probably damaging 0.98
R8252:Or5p50 UTSW 7 107,421,776 (GRCm39) missense probably damaging 0.98
R8253:Or5p50 UTSW 7 107,421,776 (GRCm39) missense probably damaging 0.98
R8791:Or5p50 UTSW 7 107,422,557 (GRCm39) missense possibly damaging 0.64
R9008:Or5p50 UTSW 7 107,422,628 (GRCm39) missense possibly damaging 0.53
R9381:Or5p50 UTSW 7 107,421,812 (GRCm39) missense probably damaging 1.00
R9509:Or5p50 UTSW 7 107,422,440 (GRCm39) missense probably benign
Z1176:Or5p50 UTSW 7 107,422,200 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGTGATTGACTCTATTTGGTCCAC -3'
(R):5'- GCACCATCCTTCTCATCAGAG -3'

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