Incidental Mutation 'R5839:Tpd52l2'
ID 449776
Institutional Source Beutler Lab
Gene Symbol Tpd52l2
Ensembl Gene ENSMUSG00000000827
Gene Name tumor protein D52-like 2
Synonyms 2810411G23Rik, D54
MMRRC Submission 044059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5839 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 181138935-181159759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 181141691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 25 (V25I)
Ref Sequence ENSEMBL: ENSMUSP00000000844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069649] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000149163] [ENSMUST00000184849] [ENSMUST00000184588]
AlphaFold Q9CYZ2
Predicted Effect probably benign
Transcript: ENSMUST00000000844
AA Change: V25I

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: V25I

DomainStartEndE-ValueType
Pfam:TPD52 28 199 6.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069649
SMART Domains Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882

DomainStartEndE-ValueType
Pfam:Abhydrolase_1 174 339 2.9e-11 PFAM
Pfam:Abhydrolase_5 174 341 2.1e-13 PFAM
Pfam:Hydrolase_4 180 308 5.1e-9 PFAM
low complexity region 345 357 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069712
AA Change: V25I

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: V25I

DomainStartEndE-ValueType
Pfam:TPD52 27 193 5.8e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108799
AA Change: V25I

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: V25I

DomainStartEndE-ValueType
Pfam:TPD52 18 121 1.9e-38 PFAM
Pfam:TPD52 115 220 1.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108800
AA Change: V25I

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: V25I

DomainStartEndE-ValueType
Pfam:TPD52 27 179 2.9e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129390
Predicted Effect unknown
Transcript: ENSMUST00000141825
AA Change: V18I
SMART Domains Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
AA Change: V18I

DomainStartEndE-ValueType
Pfam:TPD52 12 161 3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149163
AA Change: V25I

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: V25I

DomainStartEndE-ValueType
Pfam:TPD52 28 213 5.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183956
Predicted Effect probably benign
Transcript: ENSMUST00000184849
AA Change: V4I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
AA Change: V4I

DomainStartEndE-ValueType
Pfam:TPD52 9 170 2.4e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155589
Predicted Effect probably benign
Transcript: ENSMUST00000184588
Meta Mutation Damage Score 0.0994 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 94% (62/66)
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. 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. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]
PHENOTYPE: Female mice homozygous for a knock-out allele exhibit decreased body length and absent or minimal hepatic lipidosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T A 5: 8,186,861 (GRCm39) Y420F probably damaging Het
Adcy8 A G 15: 64,588,031 (GRCm39) Y919H probably damaging Het
Afg2a A G 3: 37,518,803 (GRCm39) D779G probably damaging Het
Ampd1 A T 3: 102,992,744 (GRCm39) N162I possibly damaging Het
Arhgef15 G A 11: 68,844,982 (GRCm39) A205V probably benign Het
Ash1l A G 3: 88,890,658 (GRCm39) K846E probably damaging Het
Azi2 C T 9: 117,888,187 (GRCm39) T250I probably damaging Het
Btbd16 G A 7: 130,417,538 (GRCm39) probably null Het
Ceacam16 T A 7: 19,590,008 (GRCm39) K52* probably null Het
Cfap74 T C 4: 155,507,207 (GRCm39) probably null Het
Cgn A C 3: 94,681,703 (GRCm39) L464R probably damaging Het
Chpt1 T A 10: 88,339,625 (GRCm39) H32L probably damaging Het
Clk1 G A 1: 58,461,074 (GRCm39) T7I probably benign Het
Col6a5 C T 9: 105,822,592 (GRCm39) probably null Het
Cpne4 C A 9: 104,803,027 (GRCm39) R224S probably damaging Het
Cysltr2 T C 14: 73,267,623 (GRCm39) Y29C probably damaging Het
Ddx5 A G 11: 106,673,032 (GRCm39) S498P probably damaging Het
Dgkg A G 16: 22,385,244 (GRCm39) Y382H possibly damaging Het
Efemp1 A G 11: 28,871,418 (GRCm39) E339G possibly damaging Het
Focad T A 4: 88,115,083 (GRCm39) probably benign Het
Gabbr1 G A 17: 37,378,760 (GRCm39) G650D probably damaging Het
Galnt9 A G 5: 110,725,386 (GRCm39) S108G probably benign Het
Igkv8-28 T A 6: 70,121,145 (GRCm39) M1L probably benign Het
Iqca1l T C 5: 24,757,024 (GRCm39) K218E probably damaging Het
Kcnq2 T C 2: 180,751,544 (GRCm39) Y284C probably damaging Het
Macf1 A G 4: 123,275,117 (GRCm39) F6299S probably damaging Het
Magi3 G A 3: 104,127,047 (GRCm39) T79M probably damaging Het
Mdh2 T A 5: 135,812,146 (GRCm39) probably null Het
Mgam A C 6: 40,716,998 (GRCm39) N108T possibly damaging Het
N4bp3 A T 11: 51,536,909 (GRCm39) F55I probably benign Het
Nasp C T 4: 116,459,288 (GRCm39) probably null Het
Ncapg T A 5: 45,829,620 (GRCm39) H107Q probably damaging Het
Ofcc1 T C 13: 40,434,021 (GRCm39) K28R probably damaging Het
Opn1sw C T 6: 29,379,829 (GRCm39) C135Y probably damaging Het
Pigo T C 4: 43,022,104 (GRCm39) M346V probably damaging Het
Pkn2 A T 3: 142,527,290 (GRCm39) D386E probably benign Het
Psd2 G T 18: 36,140,577 (GRCm39) V617L probably damaging Het
Rab39 C T 9: 53,617,387 (GRCm39) R10H probably damaging Het
Slc6a6 T A 6: 91,700,298 (GRCm39) C9S probably damaging Het
Slc8a2 A T 7: 15,868,412 (GRCm39) I215F probably damaging Het
Slitrk5 T C 14: 111,917,030 (GRCm39) V218A probably benign Het
Smchd1 A T 17: 71,701,857 (GRCm39) V1045E probably damaging Het
Smoc1 T C 12: 81,214,359 (GRCm39) I247T probably damaging Het
Snapc4 G C 2: 26,255,546 (GRCm39) Q993E probably benign Het
Spidr A T 16: 15,855,366 (GRCm39) I383N probably damaging Het
Stab2 A G 10: 86,708,555 (GRCm39) V219A probably damaging Het
Tas2r103 T C 6: 133,013,779 (GRCm39) T96A probably benign Het
Tcaf3 T C 6: 42,570,783 (GRCm39) E323G possibly damaging Het
Tecta T C 9: 42,284,272 (GRCm39) T938A possibly damaging Het
Tecta C T 9: 42,242,319 (GRCm39) D2085N probably benign Het
Tekt2 T A 4: 126,216,629 (GRCm39) E328V probably damaging Het
Tgfb1i1 A G 7: 127,852,537 (GRCm39) *462W probably null Het
Tnip2 T C 5: 34,653,976 (GRCm39) probably benign Het
Traj15 T A 14: 54,441,926 (GRCm39) probably benign Het
Trpm8 A T 1: 88,253,228 (GRCm39) I106F possibly damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Ttn T C 2: 76,739,772 (GRCm39) H3589R probably benign Het
Vmn1r28 T A 6: 58,242,280 (GRCm39) I41N possibly damaging Het
Wasf1 T A 10: 40,812,315 (GRCm39) V368E unknown Het
Zeb1 A G 18: 5,767,507 (GRCm39) M673V probably benign Het
Zfp799 T C 17: 33,041,086 (GRCm39) D31G probably null Het
Other mutations in Tpd52l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Tpd52l2 APN 2 181,154,861 (GRCm39) missense probably damaging 1.00
IGL00593:Tpd52l2 APN 2 181,141,689 (GRCm39) missense probably damaging 1.00
IGL02475:Tpd52l2 APN 2 181,141,667 (GRCm39) missense probably benign 0.11
IGL03394:Tpd52l2 APN 2 181,156,879 (GRCm39) missense probably benign 0.39
PIT4791001:Tpd52l2 UTSW 2 181,141,681 (GRCm39) missense probably benign 0.02
R0276:Tpd52l2 UTSW 2 181,143,852 (GRCm39) splice site probably null
R0615:Tpd52l2 UTSW 2 181,143,744 (GRCm39) missense probably damaging 1.00
R4910:Tpd52l2 UTSW 2 181,157,005 (GRCm39) unclassified probably benign
R5201:Tpd52l2 UTSW 2 181,156,879 (GRCm39) missense probably benign 0.39
R5527:Tpd52l2 UTSW 2 181,143,847 (GRCm39) critical splice donor site probably null
R5806:Tpd52l2 UTSW 2 181,144,680 (GRCm39) missense probably damaging 1.00
R5809:Tpd52l2 UTSW 2 181,153,372 (GRCm39) missense probably damaging 1.00
R8702:Tpd52l2 UTSW 2 181,143,749 (GRCm39) missense probably damaging 1.00
R8866:Tpd52l2 UTSW 2 181,154,861 (GRCm39) missense probably damaging 1.00
R9194:Tpd52l2 UTSW 2 181,141,683 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TGTGCCCAAGAAATAGCTGTTC -3'
(R):5'- CAGCAACAGCTCTGTCACTG -3'

Sequencing Primer
(F):5'- GTCCATTGTGCAGACCATCATCATAG -3'
(R):5'- GCAACAGCTCTGTCACTGCATATG -3'
Posted On 2016-12-20