Incidental Mutation 'R0319:Tpd52'
ID25527
Institutional Source Beutler Lab
Gene Symbol Tpd52
Ensembl Gene ENSMUSG00000027506
Gene Nametumor protein D52
SynonymsmD52
MMRRC Submission 038529-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #R0319 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location8925593-9004723 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8953689 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 44 (T44A)
Ref Sequence ENSEMBL: ENSMUSP00000066826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063496] [ENSMUST00000091354] [ENSMUST00000091355] [ENSMUST00000094381] [ENSMUST00000120143] [ENSMUST00000121038] [ENSMUST00000124956] [ENSMUST00000134788] [ENSMUST00000145905] [ENSMUST00000155450]
Predicted Effect probably benign
Transcript: ENSMUST00000063496
AA Change: T44A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066826
Gene: ENSMUSG00000027506
AA Change: T44A

DomainStartEndE-ValueType
Pfam:TPD52 7 180 2.8e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091354
AA Change: T83A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088913
Gene: ENSMUSG00000027506
AA Change: T83A

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:TPD52 46 210 4.7e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091355
AA Change: T44A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088914
Gene: ENSMUSG00000027506
AA Change: T44A

DomainStartEndE-ValueType
Pfam:TPD52 7 185 7.5e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094381
AA Change: T83A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091943
Gene: ENSMUSG00000027506
AA Change: T83A

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:TPD52 48 232 1.3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120143
AA Change: T44A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112830
Gene: ENSMUSG00000027506
AA Change: T44A

DomainStartEndE-ValueType
Pfam:TPD52 7 171 2.4e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121038
AA Change: T21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113368
Gene: ENSMUSG00000027506
AA Change: T21A

DomainStartEndE-ValueType
Pfam:TPD52 1 148 2.3e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124956
AA Change: T21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119077
Gene: ENSMUSG00000027506
AA Change: T21A

DomainStartEndE-ValueType
Pfam:TPD52 1 77 8.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129736
Predicted Effect probably benign
Transcript: ENSMUST00000134788
AA Change: T93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119899
Gene: ENSMUSG00000027506
AA Change: T93A

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Pfam:TPD52 56 206 1e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145905
AA Change: T41A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123147
Gene: ENSMUSG00000027506
AA Change: T41A

DomainStartEndE-ValueType
Pfam:TPD52 4 168 8.3e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155450
SMART Domains Protein: ENSMUSP00000120317
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
transmembrane domain 36 55 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 128,237,190 V77G probably benign Het
Abcb1b A G 5: 8,827,428 R663G probably benign Het
Acly A G 11: 100,504,982 V404A probably damaging Het
Actg2 T A 6: 83,520,743 I103F probably damaging Het
Anapc5 A G 5: 122,818,856 V120A probably damaging Het
Ankk1 T G 9: 49,416,071 T603P probably damaging Het
Ankmy2 T C 12: 36,165,899 S33P possibly damaging Het
Arhgef19 A T 4: 141,256,399 T748S possibly damaging Het
Atad5 T A 11: 80,120,790 probably benign Het
Atxn10 T C 15: 85,365,282 L105P probably damaging Het
Cacna1s T C 1: 136,070,717 V161A probably damaging Het
Col6a3 T C 1: 90,807,704 E741G possibly damaging Het
Cpne9 G A 6: 113,294,693 G338E probably damaging Het
Cyp3a13 G A 5: 137,898,862 P397S probably damaging Het
Dbn1 C T 13: 55,474,916 E585K probably damaging Het
Dirc2 T C 16: 35,750,514 D140G probably benign Het
Draxin A G 4: 148,115,972 L7P probably benign Het
Exosc7 T A 9: 123,130,960 probably benign Het
Far2 A G 6: 148,157,470 E218G probably damaging Het
Ggps1 A C 13: 14,053,877 N240K possibly damaging Het
Kcnip1 T C 11: 33,651,529 probably benign Het
Kcnv2 A T 19: 27,324,024 Y425F probably benign Het
Kdelr2 T A 5: 143,412,517 F40I probably damaging Het
Kdm1b C T 13: 47,053,719 P173L probably benign Het
Kif20b G A 19: 34,947,732 probably benign Het
Klhl9 A T 4: 88,720,454 Y517N possibly damaging Het
Lgals3bp A G 11: 118,393,521 S411P probably damaging Het
Lmo3 G A 6: 138,377,311 T85M probably damaging Het
Lvrn C A 18: 46,864,753 T256N probably damaging Het
Malt1 T C 18: 65,462,915 probably null Het
Mgst1 A G 6: 138,156,157 I157V possibly damaging Het
Mob3a A T 10: 80,689,985 V164E possibly damaging Het
Mprip T A 11: 59,697,038 probably benign Het
Mst1 A G 9: 108,082,513 N276S probably benign Het
Olfr1437 A T 19: 12,322,316 C170* probably null Het
P3h2 T A 16: 25,970,931 I529F possibly damaging Het
Pikfyve T A 1: 65,246,331 S865T probably benign Het
Rcbtb2 G A 14: 73,178,469 R474Q probably benign Het
Rpl27 G A 11: 101,443,495 probably benign Het
Rtp1 G A 16: 23,431,460 E192K probably damaging Het
Sgk2 T C 2: 162,995,672 probably benign Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Spdl1 T C 11: 34,823,520 N114S possibly damaging Het
Syne2 C T 12: 76,064,162 R5756W probably damaging Het
Tor1aip1 T C 1: 156,007,181 E307G probably damaging Het
Trim67 A T 8: 124,823,227 Y532F probably damaging Het
Ttll9 C A 2: 153,000,098 probably null Het
Ush2a T C 1: 188,948,374 probably benign Het
Vcam1 T C 3: 116,116,060 I539M probably benign Het
Vmn1r19 T A 6: 57,404,615 M51K possibly damaging Het
Vmn2r61 T A 7: 42,300,517 M787K probably damaging Het
Xdh T A 17: 73,906,101 probably benign Het
Zfp109 A T 7: 24,234,470 V8E probably damaging Het
Zfp595 G A 13: 67,316,513 A562V possibly damaging Het
Zfp759 A G 13: 67,140,292 T636A probably benign Het
Other mutations in Tpd52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Tpd52 APN 3 8947632 splice site probably null
IGL02662:Tpd52 APN 3 8944715 splice site probably null
IGL02994:Tpd52 APN 3 8947530 missense probably benign 0.00
R0960:Tpd52 UTSW 3 8943590 splice site probably null
R1366:Tpd52 UTSW 3 8963933 missense probably damaging 0.99
R1828:Tpd52 UTSW 3 8947519 missense probably damaging 1.00
R1869:Tpd52 UTSW 3 8953802 splice site probably null
R2872:Tpd52 UTSW 3 9003406 nonsense probably null
R2872:Tpd52 UTSW 3 9003406 nonsense probably null
R4761:Tpd52 UTSW 3 8963873 missense probably damaging 1.00
R4907:Tpd52 UTSW 3 8944608 splice site probably null
R4997:Tpd52 UTSW 3 8934996 missense probably damaging 1.00
R5384:Tpd52 UTSW 3 8931195 intron probably null
R5385:Tpd52 UTSW 3 8931195 intron probably null
R5441:Tpd52 UTSW 3 9003406 nonsense probably null
R7154:Tpd52 UTSW 3 8963856 nonsense probably null
Z1177:Tpd52 UTSW 3 8931144 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCTGCAAACTCACAAGGCAAAG -3'
(R):5'- AAGAGGACGGCTACAACCTCAATGG -3'

Sequencing Primer
(F):5'- TCACAAGGCAAAGCACAGG -3'
(R):5'- CAGTGGGGCAGCTACAG -3'
Posted On2013-04-16