Incidental Mutation 'R5065:Tdrp'
ID 388292
Institutional Source Beutler Lab
Gene Symbol Tdrp
Ensembl Gene ENSMUSG00000050052
Gene Name testis development related protein
Synonyms 2610019F03Rik
MMRRC Submission 042655-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5065 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 14002008-14025032 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14003791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 182 (E182G)
Ref Sequence ENSEMBL: ENSMUSP00000058371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062613] [ENSMUST00000145695] [ENSMUST00000210414]
AlphaFold Q8C5P7
Predicted Effect probably damaging
Transcript: ENSMUST00000062613
AA Change: E182G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058371
Gene: ENSMUSG00000050052
AA Change: E182G

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TDRP 35 182 1.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145695
SMART Domains Protein: ENSMUSP00000114338
Gene: ENSMUSG00000050052

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
low complexity region 23 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194703
Predicted Effect probably benign
Transcript: ENSMUST00000210414
Meta Mutation Damage Score 0.1018 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,779,893 (GRCm39) N120Y probably damaging Het
A930011G23Rik G A 5: 99,382,432 (GRCm39) T272M probably benign Het
Aldh9a1 A G 1: 167,180,128 (GRCm39) E74G probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Bcl2l10 A T 9: 75,255,261 (GRCm39) E26V possibly damaging Het
Cspg4b T A 13: 113,457,453 (GRCm39) H1166Q probably benign Het
Dennd2a C A 6: 39,472,110 (GRCm39) probably null Het
Dock3 A G 9: 106,832,883 (GRCm39) F129L probably damaging Het
Gm4847 A T 1: 166,462,359 (GRCm39) I377N probably damaging Het
Gm8674 T C 13: 50,056,613 (GRCm39) noncoding transcript Het
Hhipl2 A T 1: 183,207,580 (GRCm39) H433L probably benign Het
Hsfy2 G A 1: 56,675,626 (GRCm39) Q304* probably null Het
Ighg2c T C 12: 113,251,708 (GRCm39) I140V unknown Het
Kmt2a T C 9: 44,753,997 (GRCm39) probably benign Het
Map3k5 A G 10: 19,958,213 (GRCm39) E671G probably damaging Het
Map6 A G 7: 98,985,917 (GRCm39) D607G probably benign Het
Mroh4 C T 15: 74,500,119 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,546 (GRCm39) I286V probably benign Het
Pcsk6 A G 7: 65,560,047 (GRCm39) D124G possibly damaging Het
Pkhd1l1 T A 15: 44,445,689 (GRCm39) N3790K possibly damaging Het
Polr3b C A 10: 84,468,402 (GRCm39) N129K probably benign Het
Ptpn23 A T 9: 110,227,256 (GRCm39) L31Q possibly damaging Het
Sema3c A G 5: 17,932,615 (GRCm39) N706S possibly damaging Het
Sipa1l2 T C 8: 126,218,324 (GRCm39) I338V probably benign Het
Slc39a7 A G 17: 34,250,033 (GRCm39) probably benign Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Sntg1 A G 1: 8,433,663 (GRCm39) probably benign Het
Stxbp5 A T 10: 9,646,295 (GRCm39) L780Q probably damaging Het
Tacr1 G A 6: 82,531,859 (GRCm39) V252M possibly damaging Het
Vmn1r58 A G 7: 5,413,834 (GRCm39) I132T probably benign Het
Wap A T 11: 6,586,840 (GRCm39) N86K probably damaging Het
Other mutations in Tdrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02980:Tdrp UTSW 8 14,003,918 (GRCm39) missense probably damaging 0.98
R1905:Tdrp UTSW 8 14,004,079 (GRCm39) missense probably damaging 0.99
R4760:Tdrp UTSW 8 14,024,527 (GRCm39) splice site probably benign
R4906:Tdrp UTSW 8 14,003,845 (GRCm39) missense possibly damaging 0.95
R5086:Tdrp UTSW 8 14,024,590 (GRCm39) missense possibly damaging 0.72
R5245:Tdrp UTSW 8 14,024,479 (GRCm39) intron probably benign
R7172:Tdrp UTSW 8 14,024,579 (GRCm39) nonsense probably null
R7521:Tdrp UTSW 8 14,003,831 (GRCm39) nonsense probably null
R7890:Tdrp UTSW 8 14,005,727 (GRCm39) missense probably damaging 0.98
R9000:Tdrp UTSW 8 14,003,989 (GRCm39) missense probably benign
R9029:Tdrp UTSW 8 14,003,840 (GRCm39) missense possibly damaging 0.52
R9112:Tdrp UTSW 8 14,005,796 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAGGCAACCAGATGTCAC -3'
(R):5'- CCAAACTTACTGCTGAAGACG -3'

Sequencing Primer
(F):5'- AGATGTCACCCGGAAGCCATG -3'
(R):5'- CAAACTTACTGCTGAAGACGTGGTC -3'
Posted On 2016-06-06