Incidental Mutation 'IGL01597:Or51ah3'
ID 91705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51ah3
Ensembl Gene ENSMUSG00000073947
Gene Name olfactory receptor family 51 subfamily AH member 3
Synonyms MOR19-2, GA_x6K02T2PBJ9-6284902-6285843, Olfr615
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01597
Quality Score
Status
Chromosome 7
Chromosomal Location 103209686-103210627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103210349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 222 (I222V)
Ref Sequence ENSEMBL: ENSMUSP00000150166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098198] [ENSMUST00000106886] [ENSMUST00000214345] [ENSMUST00000214806] [ENSMUST00000215673] [ENSMUST00000217293]
AlphaFold Q8VGY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000098198
AA Change: I222V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947
AA Change: I222V

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 2.5e-105 PFAM
Pfam:7TM_GPCR_Srsx 36 253 8.5e-9 PFAM
Pfam:7tm_1 42 293 8.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106886
SMART Domains Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:7tm_4 33 311 1.1e-116 PFAM
Pfam:7TM_GPCR_Srsx 37 309 1.2e-6 PFAM
Pfam:7tm_1 43 294 4.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214345
AA Change: I222V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000214806
Predicted Effect possibly damaging
Transcript: ENSMUST00000215673
AA Change: I222V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000217293
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 A T 5: 16,531,390 (GRCm39) probably benign Het
Cdk12 A G 11: 98,141,090 (GRCm39) probably benign Het
Ces1e T A 8: 93,937,001 (GRCm39) I357F probably benign Het
Dicer1 G A 12: 104,671,469 (GRCm39) R934* probably null Het
Dnah9 A T 11: 66,009,656 (GRCm39) Y744N probably damaging Het
Fgd5 T A 6: 91,964,910 (GRCm39) I381N probably damaging Het
Gabrg1 T C 5: 70,939,691 (GRCm39) D147G probably damaging Het
Gpsm2 A T 3: 108,604,303 (GRCm39) M385K probably benign Het
Hivep2 C T 10: 14,025,118 (GRCm39) Q2311* probably null Het
Or51b17 A G 7: 103,542,303 (GRCm39) V213A probably benign Het
Or5c1 A C 2: 37,222,023 (GRCm39) D88A possibly damaging Het
Or7e173 A T 9: 19,938,982 (GRCm39) M84K probably damaging Het
Papss2 G A 19: 32,615,658 (GRCm39) R130H probably damaging Het
Pik3r5 A T 11: 68,386,827 (GRCm39) I819F probably damaging Het
Pipox A G 11: 77,774,019 (GRCm39) V199A probably damaging Het
Pkd1l3 G T 8: 110,350,153 (GRCm39) V333L probably benign Het
Rbl1 A G 2: 157,037,369 (GRCm39) probably benign Het
Scyl2 T A 10: 89,488,849 (GRCm39) I489F probably damaging Het
Serinc4 T A 2: 121,285,472 (GRCm39) L100F probably damaging Het
Slc39a12 T A 2: 14,439,120 (GRCm39) F458Y possibly damaging Het
Snrnp200 T C 2: 127,080,652 (GRCm39) probably benign Het
Syngr4 T C 7: 45,536,390 (GRCm39) T211A probably benign Het
Taar8a T C 10: 23,952,756 (GRCm39) L120P possibly damaging Het
Tbx10 A G 19: 4,046,736 (GRCm39) K72R probably benign Het
Tomm70a A G 16: 56,953,551 (GRCm39) T149A probably benign Het
Traip T A 9: 107,833,123 (GRCm39) probably null Het
Trpm3 G A 19: 22,692,610 (GRCm39) G234R probably damaging Het
Tubgcp5 A G 7: 55,456,580 (GRCm39) probably benign Het
Vstm5 T C 9: 15,168,675 (GRCm39) W80R probably damaging Het
Vwa5a A T 9: 38,645,161 (GRCm39) R415S probably damaging Het
Zfp39 A G 11: 58,782,369 (GRCm39) V131A probably damaging Het
Other mutations in Or51ah3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Or51ah3 APN 7 103,210,563 (GRCm39) missense probably damaging 1.00
IGL01310:Or51ah3 APN 7 103,210,008 (GRCm39) missense probably benign
IGL01725:Or51ah3 APN 7 103,210,282 (GRCm39) nonsense probably null
IGL03291:Or51ah3 APN 7 103,210,119 (GRCm39) missense possibly damaging 0.93
R0055:Or51ah3 UTSW 7 103,210,244 (GRCm39) missense probably damaging 1.00
R0055:Or51ah3 UTSW 7 103,210,244 (GRCm39) missense probably damaging 1.00
R0189:Or51ah3 UTSW 7 103,210,289 (GRCm39) missense probably benign 0.01
R0254:Or51ah3 UTSW 7 103,209,829 (GRCm39) nonsense probably null
R1395:Or51ah3 UTSW 7 103,210,326 (GRCm39) missense possibly damaging 0.92
R1781:Or51ah3 UTSW 7 103,209,773 (GRCm39) missense probably benign 0.34
R2866:Or51ah3 UTSW 7 103,210,064 (GRCm39) missense probably damaging 1.00
R2958:Or51ah3 UTSW 7 103,210,512 (GRCm39) missense possibly damaging 0.54
R3922:Or51ah3 UTSW 7 103,209,912 (GRCm39) missense probably benign 0.00
R4306:Or51ah3 UTSW 7 103,210,380 (GRCm39) missense possibly damaging 0.50
R4306:Or51ah3 UTSW 7 103,210,379 (GRCm39) nonsense probably null
R4818:Or51ah3 UTSW 7 103,209,968 (GRCm39) missense probably benign 0.07
R4907:Or51ah3 UTSW 7 103,210,241 (GRCm39) missense possibly damaging 0.85
R4993:Or51ah3 UTSW 7 103,210,524 (GRCm39) missense possibly damaging 0.63
R5461:Or51ah3 UTSW 7 103,209,780 (GRCm39) missense probably damaging 1.00
R6225:Or51ah3 UTSW 7 103,210,489 (GRCm39) missense probably benign 0.01
R6621:Or51ah3 UTSW 7 103,210,085 (GRCm39) missense possibly damaging 0.93
R7174:Or51ah3 UTSW 7 103,210,598 (GRCm39) nonsense probably null
R7665:Or51ah3 UTSW 7 103,210,523 (GRCm39) missense probably benign 0.00
R7684:Or51ah3 UTSW 7 103,210,425 (GRCm39) missense probably benign 0.01
R8812:Or51ah3 UTSW 7 103,209,816 (GRCm39) missense probably benign 0.01
R8934:Or51ah3 UTSW 7 103,210,290 (GRCm39) missense probably benign 0.01
R9199:Or51ah3 UTSW 7 103,210,143 (GRCm39) missense probably damaging 1.00
R9243:Or51ah3 UTSW 7 103,209,782 (GRCm39) missense probably benign
R9276:Or51ah3 UTSW 7 103,210,004 (GRCm39) missense probably damaging 1.00
Z1088:Or51ah3 UTSW 7 103,210,597 (GRCm39) missense probably damaging 0.97
Z1088:Or51ah3 UTSW 7 103,210,266 (GRCm39) missense probably benign
Posted On 2013-12-09