Incidental Mutation 'R8002:Tspo'
ID 616423
Institutional Source Beutler Lab
Gene Symbol Tspo
Ensembl Gene ENSMUSG00000041736
Gene Name translocator protein
Synonyms PBR, Tspo1, Bzrp
MMRRC Submission 046042-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R8002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 83447793-83458404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83455640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 9 (V9A)
Ref Sequence ENSEMBL: ENSMUSP00000037039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000047419] [ENSMUST00000136066] [ENSMUST00000208463]
AlphaFold P50637
PDB Structure Solution structure of the mitochondrial translocator protein (TSPO) in complex with its high-affinity ligand PK11195 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000016901
SMART Domains Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
Pfam:TTL 341 637 7.4e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047419
AA Change: V9A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000037039
Gene: ENSMUSG00000041736
AA Change: V9A

DomainStartEndE-ValueType
Pfam:TspO_MBR 9 157 1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136066
SMART Domains Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
low complexity region 66 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208463
AA Change: V9A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the male reproductive system exhibit normal testicular development, reproduction and testosterone production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 C T 7: 119,172,480 (GRCm39) R133C possibly damaging Het
Adgrf4 T C 17: 42,978,683 (GRCm39) E220G probably benign Het
Alx3 T A 3: 107,508,055 (GRCm39) L188* probably null Het
Arhgef2 A T 3: 88,554,117 (GRCm39) I969F probably damaging Het
Atf6 A G 1: 170,646,823 (GRCm39) V350A probably benign Het
Atp1a3 C A 7: 24,700,096 (GRCm39) G88V probably damaging Het
Brd8 T C 18: 34,741,609 (GRCm39) T360A probably benign Het
Casp1 C A 9: 5,303,164 (GRCm39) T206K possibly damaging Het
Ccdc150 A G 1: 54,311,656 (GRCm39) E214G probably damaging Het
Ccdc81 T C 7: 89,525,343 (GRCm39) E477G probably benign Het
Celsr2 G T 3: 108,311,285 (GRCm39) R1409S probably damaging Het
Chd6 T C 2: 160,832,241 (GRCm39) D977G probably damaging Het
Cpne3 A T 4: 19,528,232 (GRCm39) F342I probably damaging Het
Crot A C 5: 9,043,599 (GRCm39) S8A probably benign Het
Cyp11b2 T C 15: 74,727,881 (GRCm39) H67R probably damaging Het
Dnah1 A T 14: 31,020,679 (GRCm39) L1230H probably damaging Het
Dqx1 G A 6: 83,035,558 (GRCm39) D24N probably damaging Het
Gabrg3 T C 7: 56,384,716 (GRCm39) T282A possibly damaging Het
Gm13199 A G 2: 5,867,458 (GRCm39) S13P unknown Het
Gnptab A T 10: 88,276,130 (GRCm39) D1139V probably benign Het
Hdac1-ps T C 17: 78,799,716 (GRCm39) S236P probably damaging Het
Jtb T C 3: 90,141,251 (GRCm39) S76P probably benign Het
Klk1b27 T A 7: 43,705,445 (GRCm39) D172E probably benign Het
Lpcat4 G A 2: 112,074,699 (GRCm39) V307I probably benign Het
Ltn1 A C 16: 87,212,835 (GRCm39) S575R probably benign Het
Map3k13 A G 16: 21,723,878 (GRCm39) T287A probably benign Het
Marco T G 1: 120,422,509 (GRCm39) I58L probably benign Het
Nadk G T 4: 155,661,655 (GRCm39) probably null Het
Or11h7 A T 14: 50,891,314 (GRCm39) I207F probably damaging Het
Otof G A 5: 30,537,954 (GRCm39) T1215I probably benign Het
Pigw A T 11: 84,769,249 (GRCm39) C27S probably benign Het
Pla2g10 A T 16: 13,542,912 (GRCm39) M125K unknown Het
Rfx4 A C 10: 84,676,721 (GRCm39) M204L probably damaging Het
Septin1 T C 7: 126,815,074 (GRCm39) D209G probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc26a4 T C 12: 31,597,969 (GRCm39) D159G probably benign Het
Sptbn4 C A 7: 27,117,417 (GRCm39) S444I possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Stard6 T A 18: 70,633,597 (GRCm39) D201E possibly damaging Het
Tas2r114 T C 6: 131,666,102 (GRCm39) T309A probably damaging Het
Tdrd6 C A 17: 43,940,710 (GRCm39) A113S probably damaging Het
Tigd2 T G 6: 59,187,494 (GRCm39) N120K probably damaging Het
Tomm70a A G 16: 56,957,097 (GRCm39) N224S probably damaging Het
Vmn1r21 T A 6: 57,821,199 (GRCm39) I82L probably benign Het
Vmn2r103 T A 17: 20,019,511 (GRCm39) C532S probably damaging Het
Vmn2r76 T C 7: 85,879,271 (GRCm39) N343S probably benign Het
Wdr62 T C 7: 29,951,785 (GRCm39) K665E probably damaging Het
Xpc T A 6: 91,469,287 (GRCm39) N820I probably damaging Het
Zfp418 A G 7: 7,184,873 (GRCm39) T279A probably benign Het
Other mutations in Tspo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:Tspo APN 15 83,455,616 (GRCm39) start codon destroyed probably null 0.99
IGL03218:Tspo APN 15 83,455,631 (GRCm39) missense possibly damaging 0.89
R5952:Tspo UTSW 15 83,456,441 (GRCm39) missense possibly damaging 0.52
R6176:Tspo UTSW 15 83,458,007 (GRCm39) missense probably benign
R7252:Tspo UTSW 15 83,456,466 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCAGGAATAAGTGGGCTG -3'
(R):5'- AGTCAAAGCCCAGCCTGATTC -3'

Sequencing Primer
(F):5'- AATAAGTGGGCTGGTTGTTCC -3'
(R):5'- CTGATTCCAGGGGCAACAG -3'
Posted On 2020-01-23