Incidental Mutation 'IGL01750:Olfr531'
ID153105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr531
Ensembl Gene ENSMUSG00000062712
Gene Nameolfactory receptor 531
SynonymsGA_x6K02T2PBJ9-42551260-42550346, MOR251-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01750
Quality Score
Status
Chromosome7
Chromosomal Location140399045-140402918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140400657 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 130 (T130A)
Ref Sequence ENSEMBL: ENSMUSP00000149942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080153] [ENSMUST00000216053] [ENSMUST00000217167]
Predicted Effect probably benign
Transcript: ENSMUST00000080153
AA Change: T130A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079048
Gene: ENSMUSG00000062712
AA Change: T130A

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 6.3e-46 PFAM
Pfam:7tm_1 38 286 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216053
AA Change: T130A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217032
Predicted Effect probably benign
Transcript: ENSMUST00000217167
AA Change: T130A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 81,092,282 R616G probably damaging Het
BC030867 T C 11: 102,254,951 probably benign Het
Cacna1b G A 2: 24,654,395 P1260S probably damaging Het
Ccz1 A T 5: 144,004,062 Y225N probably damaging Het
Col15a1 C T 4: 47,303,897 P1101S probably damaging Het
Cyp2d22 T A 15: 82,374,369 H97L probably benign Het
Emsy G A 7: 98,619,301 S511F probably damaging Het
Fnbp1l G T 3: 122,544,677 Y351* probably null Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Hook2 T C 8: 84,993,236 probably null Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Kmt2d G A 15: 98,853,168 probably benign Het
Lpin1 T C 12: 16,577,176 N123S probably benign Het
Man2c1 T C 9: 57,140,780 probably null Het
Obscn T C 11: 59,031,639 E6558G probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcdh7 A G 5: 57,720,422 T440A probably damaging Het
Pitx1 A G 13: 55,826,491 Y176H probably damaging Het
Plec A G 15: 76,173,389 V4116A probably damaging Het
Polrmt A G 10: 79,739,846 V617A possibly damaging Het
Pprc1 T C 19: 46,071,829 probably benign Het
Rbm19 G A 5: 120,118,792 A57T probably benign Het
Rin1 T C 19: 5,052,036 I134T possibly damaging Het
Thumpd2 G A 17: 81,054,386 A137V probably benign Het
Tle4 T C 19: 14,449,789 Y756C probably damaging Het
Tln1 A G 4: 43,545,435 L986P probably damaging Het
Tmem132c C A 5: 127,462,959 Q350K possibly damaging Het
Zfp474 A G 18: 52,639,277 N334S possibly damaging Het
Other mutations in Olfr531
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02190:Olfr531 APN 7 140400120 utr 3 prime probably benign
IGL02548:Olfr531 APN 7 140400662 missense probably damaging 1.00
R0200:Olfr531 UTSW 7 140400875 missense probably damaging 1.00
R0589:Olfr531 UTSW 7 140400900 missense possibly damaging 0.94
R1325:Olfr531 UTSW 7 140400881 missense probably damaging 1.00
R1985:Olfr531 UTSW 7 140400800 missense possibly damaging 0.68
R4671:Olfr531 UTSW 7 140400305 missense probably damaging 1.00
R4754:Olfr531 UTSW 7 140400159 missense probably damaging 0.99
R4941:Olfr531 UTSW 7 140400879 missense probably benign 0.24
R5015:Olfr531 UTSW 7 140400170 missense probably damaging 0.99
R5070:Olfr531 UTSW 7 140400569 missense probably benign 0.00
R5244:Olfr531 UTSW 7 140400138 missense probably benign 0.00
R5883:Olfr531 UTSW 7 140400188 missense probably damaging 1.00
R6437:Olfr531 UTSW 7 140400521 missense probably damaging 1.00
R7246:Olfr531 UTSW 7 140400148 missense probably benign 0.34
R7396:Olfr531 UTSW 7 140400563 missense probably benign 0.00
R7742:Olfr531 UTSW 7 140400321 missense probably benign 0.01
R7789:Olfr531 UTSW 7 140400697 nonsense probably null
R7799:Olfr531 UTSW 7 140400464 missense probably damaging 0.99
Posted On2014-02-04