Incidental Mutation 'R1541:Or5p56'
ID 171734
Institutional Source Beutler Lab
Gene Symbol Or5p56
Ensembl Gene ENSMUSG00000096151
Gene Name olfactory receptor family 5 subfamily P member 56
Synonyms Olfr477, GA_x6K02T2PBJ9-10319672-10320604, MOR204-1
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R1541 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107589574-107590506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107590048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 159 (F159L)
Ref Sequence ENSEMBL: ENSMUSP00000091654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091605] [ENSMUST00000214677]
AlphaFold Q8VGI6
Predicted Effect probably benign
Transcript: ENSMUST00000091605
AA Change: F159L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000091654
Gene: ENSMUSG00000096151
AA Change: F159L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8e-52 PFAM
Pfam:7tm_1 41 290 1.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214677
AA Change: F159L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
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
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging Het
Other mutations in Or5p56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Or5p56 APN 7 107,590,097 (GRCm39) missense probably damaging 0.97
IGL01078:Or5p56 APN 7 107,590,150 (GRCm39) missense probably benign 0.02
IGL01141:Or5p56 APN 7 107,589,758 (GRCm39) missense probably damaging 1.00
IGL02613:Or5p56 APN 7 107,590,381 (GRCm39) nonsense probably null
R0625:Or5p56 UTSW 7 107,590,396 (GRCm39) missense probably damaging 1.00
R0791:Or5p56 UTSW 7 107,589,740 (GRCm39) missense probably benign 0.27
R1254:Or5p56 UTSW 7 107,589,647 (GRCm39) missense probably benign 0.01
R1456:Or5p56 UTSW 7 107,589,605 (GRCm39) missense probably benign 0.06
R1522:Or5p56 UTSW 7 107,589,740 (GRCm39) missense probably benign 0.27
R2889:Or5p56 UTSW 7 107,589,784 (GRCm39) missense probably benign 0.06
R5653:Or5p56 UTSW 7 107,589,592 (GRCm39) missense probably benign 0.38
R6146:Or5p56 UTSW 7 107,589,620 (GRCm39) missense probably damaging 1.00
R6190:Or5p56 UTSW 7 107,590,307 (GRCm39) missense probably damaging 1.00
R7103:Or5p56 UTSW 7 107,589,805 (GRCm39) missense possibly damaging 0.92
R7191:Or5p56 UTSW 7 107,589,853 (GRCm39) missense possibly damaging 0.88
R7553:Or5p56 UTSW 7 107,589,682 (GRCm39) missense probably benign 0.03
R7681:Or5p56 UTSW 7 107,590,355 (GRCm39) missense possibly damaging 0.80
Z1088:Or5p56 UTSW 7 107,589,938 (GRCm39) missense probably benign 0.42
Z1177:Or5p56 UTSW 7 107,590,301 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGATGGAGGCTCAAAACCACAC -3'
(R):5'- GGAGCGCATATTCAGGATGGTGATG -3'

Sequencing Primer
(F):5'- TCAGTTTAATAAGGAGCTGCCCC -3'
(R):5'- TAGGTGTAGGAGACAGCTATGAC -3'
Posted On 2014-04-13