Incidental Mutation 'IGL02131:Tspo2'
ID 281204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspo2
Ensembl Gene ENSMUSG00000023995
Gene Name translocator protein 2
Synonyms Bzrpl1, 2510027D20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02131
Quality Score
Status
Chromosome 17
Chromosomal Location 48754935-48758550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48756089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 91 (T91S)
Ref Sequence ENSEMBL: ENSMUSP00000024794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024794] [ENSMUST00000159988] [ENSMUST00000162481]
AlphaFold Q9CRZ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000024794
AA Change: T91S

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024794
Gene: ENSMUSG00000023995
AA Change: T91S

DomainStartEndE-ValueType
Pfam:TspO_MBR 7 153 2.7e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159478
Predicted Effect probably benign
Transcript: ENSMUST00000159988
AA Change: T63S

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124843
Gene: ENSMUSG00000023995
AA Change: T63S

DomainStartEndE-ValueType
Pfam:TspO_MBR 7 126 3.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160259
Predicted Effect probably benign
Transcript: ENSMUST00000162481
SMART Domains Protein: ENSMUSP00000124308
Gene: ENSMUSG00000023995

DomainStartEndE-ValueType
Pfam:TspO_MBR 6 66 3.1e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,935,084 (GRCm39) probably benign Het
Adamts19 A G 18: 59,185,732 (GRCm39) Y1202C probably damaging Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Ankrd11 A T 8: 123,621,149 (GRCm39) I901N probably damaging Het
Anxa8 A T 14: 33,812,588 (GRCm39) D46V possibly damaging Het
Ap4e1 A G 2: 126,903,849 (GRCm39) Y917C probably benign Het
Arhgap40 G A 2: 158,373,859 (GRCm39) probably null Het
Dnah17 A G 11: 117,963,734 (GRCm39) V2513A probably damaging Het
Dnhd1 T C 7: 105,370,009 (GRCm39) L4478P probably damaging Het
Dtx3 T C 10: 127,029,148 (GRCm39) D30G probably damaging Het
Fat2 A G 11: 55,199,868 (GRCm39) Y1069H probably damaging Het
Fbxo21 T A 5: 118,140,155 (GRCm39) N538K possibly damaging Het
Frem1 T C 4: 82,843,091 (GRCm39) T1748A probably benign Het
Kcnh6 T C 11: 105,911,001 (GRCm39) Y466H probably damaging Het
Kif2c G A 4: 117,035,150 (GRCm39) S41L possibly damaging Het
Kir3dl2 T A X: 135,358,462 (GRCm39) H52L possibly damaging Het
Mageb18 A G X: 91,163,655 (GRCm39) C196R possibly damaging Het
Mrpl9 T A 3: 94,352,020 (GRCm39) probably null Het
Nt5c1b A G 12: 10,425,491 (GRCm39) I345V possibly damaging Het
Or10a49 T C 7: 108,467,415 (GRCm39) *315W probably null Het
Or2j3 T A 17: 38,615,539 (GRCm39) H271L probably benign Het
Or8c11 A G 9: 38,289,203 (GRCm39) T9A probably benign Het
Parp8 T C 13: 117,047,409 (GRCm39) N221S probably benign Het
Plbd1 T C 6: 136,638,681 (GRCm39) probably benign Het
Recql5 C A 11: 115,814,068 (GRCm39) W86L probably benign Het
Rgs6 T C 12: 83,116,269 (GRCm39) S232P probably damaging Het
Rnf182 A G 13: 43,821,818 (GRCm39) H123R probably benign Het
Rtf2 A G 2: 172,308,212 (GRCm39) T204A unknown Het
Sema4d T C 13: 51,856,973 (GRCm39) probably null Het
Septin8 T C 11: 53,428,684 (GRCm39) S408P possibly damaging Het
Serpini1 A G 3: 75,548,011 (GRCm39) N396D probably benign Het
Slc26a2 A C 18: 61,331,884 (GRCm39) F516V possibly damaging Het
Tcf4 A G 18: 69,697,697 (GRCm39) probably benign Het
Trrap G T 5: 144,777,246 (GRCm39) G3045W probably damaging Het
Ttn T C 2: 76,567,958 (GRCm39) D27645G probably damaging Het
Uba6 G T 5: 86,297,936 (GRCm39) T246K probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wwp2 T A 8: 108,278,950 (GRCm39) M136K probably damaging Het
Zranb3 A T 1: 127,920,688 (GRCm39) V412D probably damaging Het
Other mutations in Tspo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02991:Tspo2 UTSW 17 48,757,014 (GRCm39) missense possibly damaging 0.72
R0551:Tspo2 UTSW 17 48,755,841 (GRCm39) splice site probably benign
R1843:Tspo2 UTSW 17 48,755,818 (GRCm39) missense possibly damaging 0.87
R1844:Tspo2 UTSW 17 48,756,148 (GRCm39) missense probably damaging 1.00
R2022:Tspo2 UTSW 17 48,755,750 (GRCm39) missense possibly damaging 0.73
R4319:Tspo2 UTSW 17 48,756,871 (GRCm39) intron probably benign
R4867:Tspo2 UTSW 17 48,755,705 (GRCm39) missense possibly damaging 0.58
R5327:Tspo2 UTSW 17 48,756,887 (GRCm39) intron probably benign
R5380:Tspo2 UTSW 17 48,755,780 (GRCm39) missense probably benign
R5790:Tspo2 UTSW 17 48,756,047 (GRCm39) critical splice donor site probably null
R7819:Tspo2 UTSW 17 48,756,985 (GRCm39) missense probably damaging 0.98
X0053:Tspo2 UTSW 17 48,757,014 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16