Incidental Mutation 'R3623:Trpd52l3'
ID 268764
Institutional Source Beutler Lab
Gene Symbol Trpd52l3
Ensembl Gene ENSMUSG00000024815
Gene Name tumor protein D52-like 3
Synonyms 4931412G03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3623 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 29981190-29983418 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 29981333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 29 (C29*)
Ref Sequence ENSEMBL: ENSMUSP00000025727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025727]
AlphaFold Q9CQ14
Predicted Effect probably null
Transcript: ENSMUST00000025727
AA Change: C29*
SMART Domains Protein: ENSMUSP00000025727
Gene: ENSMUSG00000024815
AA Change: C29*

DomainStartEndE-ValueType
Pfam:TPD52 55 205 2e-64 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adpgk G A 9: 59,221,036 (GRCm39) V281I probably benign Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd13d T C 19: 4,331,968 (GRCm39) E110G probably damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Becn2 T C 1: 175,748,197 (GRCm39) C88R possibly damaging Het
Bscl2 T A 19: 8,818,514 (GRCm39) C40S probably benign Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Camk2g G A 14: 20,805,775 (GRCm39) probably benign Het
Cd109 A T 9: 78,574,639 (GRCm39) D541V probably damaging Het
Cep135 G A 5: 76,772,586 (GRCm39) G657D probably benign Het
Coch A G 12: 51,649,609 (GRCm39) I307V probably benign Het
D17H6S53E A G 17: 35,346,512 (GRCm39) E141G probably benign Het
Ddias T C 7: 92,508,800 (GRCm39) T372A probably benign Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Ep400 T C 5: 110,867,102 (GRCm39) Y1014C unknown Het
Ephx1 A G 1: 180,817,498 (GRCm39) I391T probably benign Het
Fcgbp A G 7: 27,800,701 (GRCm39) Y1249C probably damaging Het
Gm5592 T C 7: 40,807,052 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,629 (GRCm39) N149S probably benign Het
Greb1l T A 18: 10,542,380 (GRCm39) I1325N probably damaging Het
H2-T3 T C 17: 36,500,957 (GRCm39) T20A possibly damaging Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Irs2 C T 8: 11,057,643 (GRCm39) G263D probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mettl21e T A 1: 44,245,857 (GRCm39) I130F probably damaging Het
Mlh3 C T 12: 85,315,169 (GRCm39) C339Y probably damaging Het
Mog T C 17: 37,323,338 (GRCm39) H200R possibly damaging Het
Msrb3 C T 10: 120,620,103 (GRCm39) R72H probably damaging Het
Mtmr11 A G 3: 96,072,583 (GRCm39) H324R probably damaging Het
Myh7 T C 14: 55,210,838 (GRCm39) E1693G probably damaging Het
Nadk2 T A 15: 9,084,303 (GRCm39) W139R probably damaging Het
Ndufa9 A T 6: 126,821,362 (GRCm39) M76K possibly damaging Het
Nr1i2 A G 16: 38,086,269 (GRCm39) probably benign Het
Nsd3 A G 8: 26,152,835 (GRCm39) T392A probably damaging Het
Or14a259 A G 7: 86,013,308 (GRCm39) F79S probably benign Het
Or52d3 T C 7: 104,229,149 (GRCm39) S99P probably damaging Het
P2ry2 A T 7: 100,647,706 (GRCm39) S200T probably benign Het
Pcnt T A 10: 76,269,584 (GRCm39) E228V probably benign Het
Phka2 T A X: 159,327,291 (GRCm39) Y334* probably null Het
Pkhd1l1 A T 15: 44,390,265 (GRCm39) K1460N probably damaging Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rspry1 A G 8: 95,376,405 (GRCm39) D309G probably damaging Het
Scap A G 9: 110,209,271 (GRCm39) Y648C probably damaging Het
Sgcz T C 8: 38,420,201 (GRCm39) E17G probably damaging Het
Slc17a5 A T 9: 78,445,556 (GRCm39) V433D probably damaging Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Srcap T C 7: 127,141,319 (GRCm39) S1639P probably damaging Het
Strn3 T C 12: 51,707,999 (GRCm39) Y132C possibly damaging Het
Tas2r110 A T 6: 132,845,433 (GRCm39) M155L probably benign Het
Tasor2 T C 13: 3,645,556 (GRCm39) T98A probably benign Het
Thbd A G 2: 148,248,893 (GRCm39) V325A probably damaging Het
Trpm1 A G 7: 63,894,601 (GRCm39) Y951C probably damaging Het
Ube3a T A 7: 58,921,860 (GRCm39) N77K probably damaging Het
Upp2 G A 2: 58,680,128 (GRCm39) R300Q possibly damaging Het
Usp35 T C 7: 96,961,827 (GRCm39) H533R probably damaging Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Vps13c T A 9: 67,883,189 (GRCm39) probably null Het
Vps37c T A 19: 10,683,569 (GRCm39) probably null Het
Zap70 C T 1: 36,818,216 (GRCm39) T301I probably benign Het
Zfp341 A G 2: 154,466,801 (GRCm39) K57E probably damaging Het
Zfp60 T A 7: 27,448,753 (GRCm39) F474I probably benign Het
Zfp786 T C 6: 47,798,357 (GRCm39) N194D probably benign Het
Other mutations in Trpd52l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03240:Trpd52l3 APN 19 29,981,396 (GRCm39) missense probably damaging 1.00
R1939:Trpd52l3 UTSW 19 29,981,289 (GRCm39) missense probably damaging 1.00
R2065:Trpd52l3 UTSW 19 29,981,362 (GRCm39) missense probably benign 0.04
R2208:Trpd52l3 UTSW 19 29,981,646 (GRCm39) missense probably damaging 1.00
R4701:Trpd52l3 UTSW 19 29,981,895 (GRCm39) missense probably damaging 0.98
R6958:Trpd52l3 UTSW 19 29,981,546 (GRCm39) missense probably damaging 1.00
R9108:Trpd52l3 UTSW 19 29,981,329 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- ATGGAGGTAAGTGCCCATGAC -3'
(R):5'- AGTTCCAGTTGCTCAGCCTC -3'

Sequencing Primer
(F):5'- GTAAGTGCCCATGACCCCCAG -3'
(R):5'- TCAGCCTCCGTCAGATCTGG -3'
Posted On 2015-02-19