Incidental Mutation 'R6305:Or5p50'
ID 509590
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 044411-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6305 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107421730-107422674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107421864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 271 (T271P)
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: T271P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000075122
Gene: ENSMUSG00000095910
AA Change: T271P

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: T271P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216431
Meta Mutation Damage Score 0.2663 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (61/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,773,741 (GRCm39) S977P probably damaging Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Adcy6 T A 15: 98,496,526 (GRCm39) I550L probably benign Het
Agbl3 G A 6: 34,759,145 (GRCm39) D19N unknown Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arhgap39 T A 15: 76,621,902 (GRCm39) D233V probably benign Het
Bcl9 G A 3: 97,113,254 (GRCm39) P1067L possibly damaging Het
Casd1 C T 6: 4,641,892 (GRCm39) T723I probably damaging Het
Cd209g T A 8: 4,186,809 (GRCm39) I118N probably benign Het
Cdh24 A T 14: 54,869,813 (GRCm39) D701E possibly damaging Het
Chd9 C T 8: 91,757,174 (GRCm39) P1858S possibly damaging Het
Csnk1g3 T A 18: 54,065,384 (GRCm39) Y322* probably null Het
Cyp2f2 G A 7: 26,828,649 (GRCm39) R173H probably damaging Het
D130043K22Rik T C 13: 25,069,668 (GRCm39) F909S probably damaging Het
Dll4 T A 2: 119,161,138 (GRCm39) S299T probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg4 T A 18: 20,582,847 (GRCm39) Y162N probably damaging Het
Enpp1 T C 10: 24,517,780 (GRCm39) Y882C probably damaging Het
Fbxw7 T A 3: 84,883,630 (GRCm39) N520K probably damaging Het
Galc C T 12: 98,225,549 (GRCm39) A14T possibly damaging Het
Grm7 G A 6: 111,335,626 (GRCm39) R679Q probably damaging Het
Hnrnpdl T C 5: 100,186,517 (GRCm39) probably benign Het
Il12a A T 3: 68,601,511 (GRCm39) K77N possibly damaging Het
Il17rd C T 14: 26,817,899 (GRCm39) S196L possibly damaging Het
Kcnv2 T C 19: 27,301,237 (GRCm39) F363L probably benign Het
Lair1 A G 7: 4,013,727 (GRCm39) probably null Het
Lrit3 G A 3: 129,594,109 (GRCm39) T156I probably damaging Het
Me2 T A 18: 73,924,915 (GRCm39) R267S probably benign Het
Mga T C 2: 119,778,179 (GRCm39) V1908A probably benign Het
Mylk3 T A 8: 86,077,048 (GRCm39) I463F probably damaging Het
Neb G A 2: 52,141,775 (GRCm39) R75* probably null Het
Niban1 T C 1: 151,571,469 (GRCm39) L248P probably damaging Het
Or10a3b C T 7: 108,444,761 (GRCm39) G152D possibly damaging Het
Or1j11 T A 2: 36,311,634 (GRCm39) S75T probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TG TGGTGTTGG 9: 37,937,838 (GRCm39) probably null Het
Or8k33 A G 2: 86,383,839 (GRCm39) S210P possibly damaging Het
Pfas A G 11: 68,892,023 (GRCm39) S162P possibly damaging Het
Pip5k1c T A 10: 81,151,768 (GRCm39) V654E probably benign Het
Plxdc1 C A 11: 97,829,416 (GRCm39) C318F probably damaging Het
Qrfprl A T 6: 65,431,975 (GRCm39) M293L probably benign Het
Rbm8a2 T C 1: 175,806,312 (GRCm39) D55G probably benign Het
Rexo5 A T 7: 119,427,348 (GRCm39) K419N probably damaging Het
Septin4 C T 11: 87,458,145 (GRCm39) T173M probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc24a4 C A 12: 102,188,360 (GRCm39) T151K possibly damaging Het
Slc6a15 A T 10: 103,225,031 (GRCm39) I40F probably benign Het
Slc6a21 T C 7: 44,930,028 (GRCm39) V172A possibly damaging Het
Thrap3 A G 4: 126,074,600 (GRCm39) probably benign Het
Tm9sf3 A G 19: 41,233,881 (GRCm39) probably null Het
Trp53 A T 11: 69,479,533 (GRCm39) H211L probably damaging Het
Ttc21b A T 2: 66,018,614 (GRCm39) N1264K probably damaging Het
Vmn1r120 A T 7: 20,787,531 (GRCm39) V60E possibly damaging Het
Ylpm1 A G 12: 85,077,319 (GRCm39) E890G probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp934 T C 13: 62,666,370 (GRCm39) Y102C probably damaging 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
R6774:Or5p50 UTSW 7 107,422,395 (GRCm39) missense probably benign 0.06
R7019:Or5p50 UTSW 7 107,422,365 (GRCm39) missense probably benign 0.04
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'- CTTCAGCCACAGGTGTTTAGC -3'
(R):5'- GTCACAGTATTTGTTATAGCCATCTCC -3'

Sequencing Primer
(F):5'- AGCCACAGGTGTTTAGCTTCTTTTTG -3'
(R):5'- GTATTTGTTATAGCCATCTCCTACAC -3'
Posted On 2018-04-02