Incidental Mutation 'IGL02475:Or5m8'
ID 294893
Institutional Source Australian Phenomics Network (link to record)
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: 0.084) question?
Stock # IGL02475
Quality Score
Status
Chromosome 2
Chromosomal Location 85822163-85823173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85822376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 72 (F72L)
Ref Sequence ENSEMBL: ENSMUSP00000149225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050942] [ENSMUST00000056849] [ENSMUST00000216807]
AlphaFold Q7TR87
Predicted Effect probably benign
Transcript: ENSMUST00000050942
AA Change: F72L

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: F72L

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 benign
Transcript: ENSMUST00000216807
AA Change: F72L

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,119,343 (GRCm39) probably benign Het
5730409E04Rik A G 4: 126,505,742 (GRCm39) E90G probably damaging Het
Abhd6 T A 14: 8,039,849 (GRCm38) I27N probably damaging Het
Akap6 A T 12: 53,186,277 (GRCm39) E1230D probably benign Het
Bcl2l12 A G 7: 44,646,317 (GRCm39) V31A possibly damaging Het
Cep350 G A 1: 155,738,341 (GRCm39) R2501W probably damaging Het
Cnga3 A G 1: 37,297,072 (GRCm39) probably null Het
Crcp T C 5: 130,088,699 (GRCm39) probably benign Het
Creb5 G A 6: 53,670,909 (GRCm39) S304N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah5 A G 15: 28,219,296 (GRCm39) D38G probably benign Het
Fam171a1 A G 2: 3,224,527 (GRCm39) I293V possibly damaging Het
Fbxw10 T C 11: 62,748,561 (GRCm39) V396A possibly damaging Het
Gm10340 G A 14: 14,832,274 (GRCm39) probably benign Het
Grik3 A G 4: 125,544,310 (GRCm39) T344A probably benign Het
Itga7 T C 10: 128,769,958 (GRCm39) F34S probably damaging Het
Musk T C 4: 58,353,936 (GRCm39) probably benign Het
Neb G T 2: 52,182,831 (GRCm39) N1038K probably damaging Het
Nf1 T C 11: 79,426,493 (GRCm39) Y1636H probably damaging Het
Ngef G T 1: 87,406,872 (GRCm39) T632K possibly damaging Het
Nme1nme2 A G 11: 93,846,400 (GRCm39) V16A probably damaging Het
Nts A G 10: 102,326,108 (GRCm39) probably benign Het
Olfml2b A G 1: 170,509,743 (GRCm39) D697G probably damaging Het
Or5ac23 A T 16: 59,149,088 (GRCm39) H261Q probably benign Het
Or9i1 T A 19: 13,839,663 (GRCm39) C169S probably damaging Het
Otof T C 5: 30,534,026 (GRCm39) R1428G probably damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Rnaseh2b T A 14: 62,584,064 (GRCm39) F37I probably damaging Het
Rtn4 T A 11: 29,683,801 (GRCm39) I1031N probably damaging Het
Rxfp2 A G 5: 149,987,151 (GRCm39) E344G probably benign Het
Scel A G 14: 103,774,444 (GRCm39) R89G possibly damaging Het
Sirt4 T C 5: 115,621,055 (GRCm39) E39G probably benign Het
Slc6a12 T A 6: 121,331,334 (GRCm39) probably null Het
Snapc3 C A 4: 83,368,333 (GRCm39) H277N probably benign Het
Susd2 A G 10: 75,473,333 (GRCm39) probably null Het
Tagap1 T C 17: 7,223,826 (GRCm39) Q290R probably benign Het
Tenm3 A T 8: 48,732,233 (GRCm39) probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Tnks1bp1 T C 2: 84,889,721 (GRCm39) S683P probably damaging Het
Tnpo2 A G 8: 85,777,131 (GRCm39) D547G probably benign Het
Tpd52l2 G A 2: 181,141,667 (GRCm39) V17M probably benign Het
Trip11 T A 12: 101,861,942 (GRCm39) T208S probably benign Het
Ttc17 C A 2: 94,194,721 (GRCm39) D551Y probably damaging Het
Ttll12 A T 15: 83,471,302 (GRCm39) W222R probably damaging Het
Xkr8 A T 4: 132,455,512 (GRCm39) I287N probably damaging Het
Zdhhc2 G T 8: 40,926,066 (GRCm39) G354C probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Or5m8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Or5m8 APN 2 85,822,730 (GRCm39) missense probably damaging 1.00
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
PIT4366001:Or5m8 UTSW 2 85,822,385 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16