Incidental Mutation 'PIT4366001:Or5m8'
ID 554740
Institutional Source Beutler Lab
Gene Symbol Or5m8
Ensembl Gene ENSMUSG00000043267
Gene Name olfactory receptor family 5 subfamily M member 8
Synonyms GA_x6K02T2Q125-47470765-47471775, Olfr1031, MOR200-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # PIT4366001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 85822163-85823173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85822385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 75 (N75Y)
Ref Sequence ENSEMBL: ENSMUSP00000149225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050942] [ENSMUST00000056849] [ENSMUST00000216807]
AlphaFold Q7TR87
Predicted Effect probably damaging
Transcript: ENSMUST00000050942
AA Change: N75Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: N75Y

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.1e-55 PFAM
Pfam:7tm_1 40 289 6.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056849
SMART Domains Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 2.4e-58 PFAM
Pfam:7tm_1 47 296 3.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216807
AA Change: N75Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.5%
  • 20x: 73.8%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,786 (GRCm39) S870I possibly damaging Het
Abca13 T C 11: 9,244,962 (GRCm39) V2275A probably benign Het
Abcb5 T C 12: 118,899,833 (GRCm39) K278R probably damaging Het
Adcy2 TA TAA 13: 68,858,109 (GRCm39) probably benign Het
Add3 C T 19: 53,205,298 (GRCm39) P16L unknown Het
Akap9 T A 5: 4,096,221 (GRCm39) D2365E probably benign Het
Asah1 A G 8: 41,796,783 (GRCm39) S300P possibly damaging Het
Astn1 A T 1: 158,424,779 (GRCm39) H655L probably benign Het
Astn1 A T 1: 158,424,781 (GRCm39) I656F probably benign Het
Bmpr1b T A 3: 141,586,224 (GRCm39) T13S probably benign Het
Camsap2 A G 1: 136,208,055 (GRCm39) F478L Het
Card10 G A 15: 78,671,631 (GRCm39) S611L probably benign Het
Cep68 T C 11: 20,190,007 (GRCm39) N335S probably benign Het
Chac1 T C 2: 119,181,986 (GRCm39) W35R probably damaging Het
Cntn6 T C 6: 104,809,498 (GRCm39) V511A probably benign Het
Cpne9 G T 6: 113,271,707 (GRCm39) G356W probably damaging Het
Dnah10 C A 5: 124,852,588 (GRCm39) T1939K possibly damaging Het
Dock10 T C 1: 80,573,438 (GRCm39) N239D probably benign Het
Dock5 T C 14: 68,062,123 (GRCm39) K415R possibly damaging Het
Dtd2 C A 12: 52,046,582 (GRCm39) D86Y probably damaging Het
Efcab9 A G 11: 32,473,608 (GRCm39) F127S probably damaging Het
Ermp1 T C 19: 29,606,189 (GRCm39) H375R probably benign Het
Frem2 A T 3: 53,560,622 (GRCm39) M1295K probably damaging Het
Gbp7 T G 3: 142,248,712 (GRCm39) I325R probably benign Het
Gpr179 T C 11: 97,227,677 (GRCm39) K1493E probably benign Het
Gucy2g T A 19: 55,226,214 (GRCm39) E234V probably null Het
Itpr1 T A 6: 108,470,718 (GRCm39) C2215* probably null Het
Ltn1 G A 16: 87,177,728 (GRCm39) R1634* probably null Het
Lynx1 A T 15: 74,623,258 (GRCm39) M58K possibly damaging Het
Macc1 T C 12: 119,410,684 (GRCm39) V484A probably benign Het
Map3k9 C T 12: 81,819,535 (GRCm39) V240M possibly damaging Het
Mars1 A G 10: 127,135,267 (GRCm39) M608T possibly damaging Het
Mc2r T C 18: 68,540,826 (GRCm39) M156V probably benign Het
Mchr1 G T 15: 81,121,417 (GRCm39) V56L probably benign Het
Mlxip C T 5: 123,533,173 (GRCm39) P61S probably benign Het
Mtarc1 A G 1: 184,539,383 (GRCm39) F96S probably benign Het
Muc4 A G 16: 32,575,542 (GRCm39) T1557A unknown Het
Myt1 T C 2: 181,467,731 (GRCm39) V1135A probably damaging Het
Ndufaf6 A T 4: 11,073,215 (GRCm39) S76T probably benign Het
Ntrk2 A G 13: 59,208,149 (GRCm39) Y665C probably damaging Het
Oaz3 T G 3: 94,340,901 (GRCm39) R215S unknown Het
Or10x1 T C 1: 174,196,656 (GRCm39) Y58H probably damaging Het
Or5m10b T C 2: 85,699,226 (GRCm39) C97R probably damaging Het
Or5w1b C T 2: 87,475,534 (GRCm39) W311* probably null Het
Perm1 G T 4: 156,303,192 (GRCm39) V579L probably benign Het
Phyhipl A G 10: 70,404,788 (GRCm39) V140A probably benign Het
Pip5k1c T A 10: 81,144,842 (GRCm39) S228T probably damaging Het
Plekhn1 T G 4: 156,309,268 (GRCm39) T213P probably damaging Het
Pomt2 A T 12: 87,163,303 (GRCm39) probably null Het
Ptcd1 A G 5: 145,088,145 (GRCm39) V622A probably benign Het
Ptn T A 6: 36,718,284 (GRCm39) H127L probably benign Het
Ptprk A T 10: 28,462,015 (GRCm39) M1193L probably benign Het
Ptpru G A 4: 131,527,023 (GRCm39) P650S probably benign Het
Pum2 T A 12: 8,783,390 (GRCm39) L613Q probably damaging Het
Rapgef6 A G 11: 54,582,446 (GRCm39) T1458A probably damaging Het
Sap130 C T 18: 31,810,462 (GRCm39) A470V probably benign Het
Sertad2 C A 11: 20,598,116 (GRCm39) P104Q probably benign Het
Sfrp4 A T 13: 19,814,414 (GRCm39) M324L unknown Het
Sh3bp4 A G 1: 89,073,156 (GRCm39) N668S probably benign Het
Snx30 C A 4: 59,894,653 (GRCm39) D410E probably benign Het
Spata31 C A 13: 65,069,319 (GRCm39) S489* probably null Het
Taok3 T A 5: 117,366,050 (GRCm39) M367K probably benign Het
Tfap2a T C 13: 40,874,850 (GRCm39) N254D possibly damaging Het
Tgtp1 T G 11: 48,877,867 (GRCm39) L279F possibly damaging Het
Tmpo A G 10: 90,999,172 (GRCm39) F205S probably damaging Het
Tmprss5 A T 9: 49,023,517 (GRCm39) I218L probably benign Het
Tti2 A G 8: 31,641,224 (GRCm39) E116G probably benign Het
Vmn2r59 A T 7: 41,695,205 (GRCm39) N402K possibly damaging Het
Other mutations in Or5m8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Or5m8 APN 2 85,822,730 (GRCm39) missense probably damaging 1.00
IGL02475:Or5m8 APN 2 85,822,376 (GRCm39) missense probably benign 0.19
IGL03230:Or5m8 APN 2 85,822,583 (GRCm39) missense probably benign 0.00
IGL03405:Or5m8 APN 2 85,822,230 (GRCm39) missense possibly damaging 0.84
PIT4151001:Or5m8 UTSW 2 85,822,538 (GRCm39) missense probably damaging 0.96
R0344:Or5m8 UTSW 2 85,822,726 (GRCm39) nonsense probably null
R1168:Or5m8 UTSW 2 85,823,028 (GRCm39) missense probably damaging 1.00
R1170:Or5m8 UTSW 2 85,823,040 (GRCm39) missense probably damaging 1.00
R2345:Or5m8 UTSW 2 85,822,166 (GRCm39) missense probably benign 0.01
R2915:Or5m8 UTSW 2 85,822,389 (GRCm39) missense probably damaging 1.00
R3498:Or5m8 UTSW 2 85,822,774 (GRCm39) missense probably benign 0.43
R4058:Or5m8 UTSW 2 85,822,576 (GRCm39) missense possibly damaging 0.87
R4747:Or5m8 UTSW 2 85,822,271 (GRCm39) missense probably damaging 1.00
R4859:Or5m8 UTSW 2 85,823,075 (GRCm39) missense probably damaging 0.96
R4991:Or5m8 UTSW 2 85,822,631 (GRCm39) missense probably damaging 0.99
R5438:Or5m8 UTSW 2 85,822,925 (GRCm39) missense probably damaging 1.00
R6362:Or5m8 UTSW 2 85,822,285 (GRCm39) missense probably damaging 1.00
R7458:Or5m8 UTSW 2 85,822,994 (GRCm39) missense probably damaging 1.00
R7535:Or5m8 UTSW 2 85,822,245 (GRCm39) missense probably benign 0.37
R8807:Or5m8 UTSW 2 85,823,172 (GRCm39) makesense probably null
R9130:Or5m8 UTSW 2 85,822,819 (GRCm39) nonsense probably null
R9366:Or5m8 UTSW 2 85,822,731 (GRCm39) missense possibly damaging 0.88
R9687:Or5m8 UTSW 2 85,822,220 (GRCm39) missense probably benign
R9746:Or5m8 UTSW 2 85,823,091 (GRCm39) missense probably benign 0.18
R9794:Or5m8 UTSW 2 85,822,464 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGACTGAATTCATCCTCCTGGG -3'
(R):5'- GTGCATACACTCTGGGACATC -3'

Sequencing Primer
(F):5'- GTCTCACTAGCCATGTGGAG -3'
(R):5'- CTCTGGGACATCTTGCTACCATAAAG -3'
Posted On 2019-06-07