Incidental Mutation 'R7191:Or5p56'
ID 559598
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 045274-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R7191 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107589574-107590506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107589853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 94 (V94M)
Ref Sequence ENSEMBL: ENSMUSP00000150605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091605] [ENSMUST00000214677]
AlphaFold Q8VGI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000091605
AA Change: V94M

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091654
Gene: ENSMUSG00000096151
AA Change: V94M

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8e-52 PFAM
Pfam:7tm_1 41 290 1.9e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214677
AA Change: V94M

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,472,314 (GRCm39) I129F probably benign Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Ank2 T A 3: 126,740,041 (GRCm39) T1948S unknown Het
Arap1 T C 7: 101,034,199 (GRCm39) C214R probably benign Het
Ccdc82 C T 9: 13,252,097 (GRCm39) Q130* probably null Het
Cfh A C 1: 140,040,305 (GRCm39) V597G probably benign Het
Clp1 A T 2: 84,554,490 (GRCm39) C226* probably null Het
Cyp39a1 G A 17: 44,041,910 (GRCm39) W372* probably null Het
Dchs1 G A 7: 105,414,646 (GRCm39) P799S possibly damaging Het
Dmbt1 A T 7: 130,646,250 (GRCm39) N167I unknown Het
Dock10 A G 1: 80,518,048 (GRCm39) S1310P possibly damaging Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Fras1 A G 5: 96,762,771 (GRCm39) T758A probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gcg C G 2: 62,307,183 (GRCm39) G126A probably damaging Het
Get1 A G 16: 95,953,145 (GRCm39) I79V possibly damaging Het
Gne T C 4: 44,040,266 (GRCm39) K633E probably benign Het
Gpr4 T C 7: 18,957,155 (GRCm39) V359A probably benign Het
Gprc5c C T 11: 114,759,443 (GRCm39) T422M possibly damaging Het
Gria2 C A 3: 80,639,392 (GRCm39) V207L probably benign Het
Hid1 T C 11: 115,239,295 (GRCm39) *789W probably null Het
Iigp1c A T 18: 60,379,329 (GRCm39) D288V probably benign Het
Jakmip3 G A 7: 138,591,257 (GRCm39) probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Krt16 T C 11: 100,137,484 (GRCm39) E407G probably damaging Het
Krt81 T C 15: 101,358,110 (GRCm39) D381G probably damaging Het
Lrrc34 C T 3: 30,679,027 (GRCm39) G357S possibly damaging Het
Lypd11 C T 7: 24,422,759 (GRCm39) V105I possibly damaging Het
Mipol1 A G 12: 57,503,852 (GRCm39) Q340R probably benign Het
Mpzl3 T G 9: 44,966,542 (GRCm39) M1R probably null Het
Nrcam A G 12: 44,619,027 (GRCm39) N852S probably benign Het
Nudcd2 C T 11: 40,627,430 (GRCm39) Q117* probably null Het
Nup35 A T 2: 80,488,723 (GRCm39) E320V probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Pkhd1 T C 1: 20,628,943 (GRCm39) H668R probably benign Het
Ptprc T A 1: 138,028,782 (GRCm39) D333V probably benign Het
Rdh16 A G 10: 127,649,287 (GRCm39) K248E probably benign Het
Samd4b C A 7: 28,113,686 (GRCm39) G93V probably benign Het
Scgn A G 13: 24,165,476 (GRCm39) I78T probably benign Het
Slfn14 T C 11: 83,167,575 (GRCm39) I647V probably benign Het
Smyd5 T C 6: 85,417,093 (GRCm39) V157A probably benign Het
Syde2 T C 3: 145,708,113 (GRCm39) M951T probably benign Het
Tas2r105 T C 6: 131,663,945 (GRCm39) N161S probably damaging Het
Tbck T C 3: 132,443,316 (GRCm39) F581L probably damaging Het
Traip A G 9: 107,847,216 (GRCm39) N352D probably benign Het
Trim29 A G 9: 43,222,906 (GRCm39) Y245C probably damaging Het
Trpv4 T C 5: 114,771,201 (GRCm39) I443V probably benign Het
Usp36 C T 11: 118,159,660 (GRCm39) E595K probably benign Het
Vmn2r51 T A 7: 9,834,480 (GRCm39) Y186F probably null Het
Vmn2r97 A G 17: 19,150,548 (GRCm39) Y465C probably damaging Het
Zfp277 A T 12: 40,379,561 (GRCm39) H324Q probably damaging Het
Zfp987 A G 4: 146,058,473 (GRCm39) D17G 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
R1541:Or5p56 UTSW 7 107,590,048 (GRCm39) missense probably benign 0.10
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
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'- AATTCCACACTACGTGTCATCC -3'
(R):5'- GTCCCTGAATTCACACAGCC -3'

Sequencing Primer
(F):5'- CACACTACGTGTCATCCTATTTATG -3'
(R):5'- TGAATTCACACAGCCACCTACATATG -3'
Posted On 2019-06-26