Incidental Mutation 'R5527:Tpd52l2'
ID 431903
Institutional Source Beutler Lab
Gene Symbol Tpd52l2
Ensembl Gene ENSMUSG00000000827
Gene Name tumor protein D52-like 2
Synonyms 2810411G23Rik, D54
MMRRC Submission 043085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5527 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181138935-181159759 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 181143847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000149163] [ENSMUST00000184588] [ENSMUST00000184849] [ENSMUST00000184849]
AlphaFold Q9CYZ2
Predicted Effect probably null
Transcript: ENSMUST00000000844
SMART Domains Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 28 199 6.2e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000069712
SMART Domains Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 27 193 5.8e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108799
SMART Domains Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 18 121 1.9e-38 PFAM
Pfam:TPD52 115 220 1.3e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108799
SMART Domains Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 18 121 1.9e-38 PFAM
Pfam:TPD52 115 220 1.3e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108800
SMART Domains Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827

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

DomainStartEndE-ValueType
Pfam:TPD52 12 161 3e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000141825
SMART Domains Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 12 161 3e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149163
SMART Domains Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 28 213 5.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184588
Predicted Effect probably null
Transcript: ENSMUST00000184849
SMART Domains Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 9 170 2.4e-54 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184849
SMART Domains Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 9 170 2.4e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155589
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.7%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,278,842 (GRCm39) Y1051N probably benign Het
Bach1 T C 16: 87,516,433 (GRCm39) S325P probably benign Het
Baz2a T C 10: 127,960,786 (GRCm39) S1529P probably damaging Het
Bicd1 T C 6: 149,396,134 (GRCm39) L168P probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccnt2 T C 1: 127,730,401 (GRCm39) M426T probably benign Het
Cdk7 C T 13: 100,866,980 (GRCm39) V38I probably damaging Het
Cenpj T C 14: 56,764,440 (GRCm39) Y1324C probably damaging Het
Cplane2 C A 4: 140,947,303 (GRCm39) A228D probably damaging Het
Ddx47 C A 6: 134,988,657 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,328,014 (GRCm39) Q3370* probably null Het
Dnah6 C T 6: 73,136,212 (GRCm39) V976I probably benign Het
Dock7 C T 4: 98,842,105 (GRCm39) probably benign Het
Dpy19l3 A T 7: 35,413,555 (GRCm39) I362N possibly damaging Het
Fam118a A T 15: 84,942,999 (GRCm39) T343S probably benign Het
Fcgbp T A 7: 27,793,060 (GRCm39) D1021E probably benign Het
Fkbp1b T C 12: 4,883,746 (GRCm39) Y83C probably damaging Het
Flt4 T C 11: 49,525,581 (GRCm39) I709T probably damaging Het
Gga3 G T 11: 115,478,262 (GRCm39) A510D probably damaging Het
Heatr1 T C 13: 12,417,641 (GRCm39) I264T probably damaging Het
Heatr1 T C 13: 12,419,829 (GRCm39) I384T probably benign Het
Hes2 T C 4: 152,244,849 (GRCm39) V106A probably benign Het
Igf1r T A 7: 67,857,569 (GRCm39) M1083K probably damaging Het
Il7r A T 15: 9,513,010 (GRCm39) D166E probably benign Het
Ipo4 G A 14: 55,869,507 (GRCm39) probably null Het
Klk1b26 T C 7: 43,662,187 (GRCm39) I15T probably benign Het
Krt42 T C 11: 100,154,121 (GRCm39) probably benign Het
Lag3 T C 6: 124,885,592 (GRCm39) T263A probably damaging Het
Lilra6 T A 7: 3,917,586 (GRCm39) probably benign Het
Lrrc31 T A 3: 30,745,377 (GRCm39) H90L probably damaging Het
Lvrn G A 18: 47,006,870 (GRCm39) D331N probably damaging Het
Me2 A T 18: 73,924,187 (GRCm39) W342R probably damaging Het
Mob2 A G 7: 141,563,147 (GRCm39) F220S probably damaging Het
Mroh4 A G 15: 74,486,865 (GRCm39) I342T probably damaging Het
Naa15 T C 3: 51,349,368 (GRCm39) Y46H probably damaging Het
Neb A G 2: 52,224,465 (GRCm39) V10A unknown Het
Nlrc5 A G 8: 95,217,044 (GRCm39) H1011R probably damaging Het
Nr1i3 A G 1: 171,041,921 (GRCm39) T2A possibly damaging Het
Nrros T C 16: 31,963,288 (GRCm39) N207S probably damaging Het
Or52m2 A T 7: 102,263,768 (GRCm39) S143T probably benign Het
Or7c70 C T 10: 78,683,609 (GRCm39) V47M probably benign Het
Pcare A T 17: 72,059,635 (GRCm39) V14D probably damaging Het
Ptprz1 C T 6: 23,000,052 (GRCm39) T714I possibly damaging Het
Rp1 T C 1: 4,416,616 (GRCm39) T1499A possibly damaging Het
Rubcn T C 16: 32,647,081 (GRCm39) K771E probably damaging Het
Sbds T C 5: 130,275,247 (GRCm39) E227G possibly damaging Het
Setd1a C T 7: 127,384,801 (GRCm39) P8S probably damaging Het
Sh3tc2 A G 18: 62,144,932 (GRCm39) I1129V probably benign Het
Spef1 T A 2: 131,014,661 (GRCm39) D87V probably damaging Het
Supv3l1 C T 10: 62,265,608 (GRCm39) R644Q probably damaging Het
Thoc6 A G 17: 23,889,769 (GRCm39) F51S probably damaging Het
Tm4sf19 T C 16: 32,226,739 (GRCm39) L176P probably damaging Het
Tma16 A G 8: 66,936,776 (GRCm39) I17T possibly damaging Het
Ube2j1 C T 4: 33,045,164 (GRCm39) P146S probably benign Het
Ubr4 T A 4: 139,208,099 (GRCm39) I4960N possibly damaging Het
Usp13 A G 3: 32,919,987 (GRCm39) D224G probably damaging Het
Uxs1 T C 1: 43,819,240 (GRCm39) T188A probably damaging Het
Vmn2r12 A T 5: 109,234,483 (GRCm39) Y576* probably null Het
Vmn2r73 T C 7: 85,507,575 (GRCm39) D579G possibly damaging Het
Xpr1 T C 1: 155,165,981 (GRCm39) N524D probably benign Het
Xrn2 A T 2: 146,871,675 (GRCm39) I366L probably benign Het
Zfp236 A T 18: 82,676,159 (GRCm39) V386E possibly damaging Het
Zfp292 A T 4: 34,806,261 (GRCm39) L2261Q probably damaging Het
Zpld1 C G 16: 55,046,725 (GRCm39) E415Q probably benign 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
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
R5839:Tpd52l2 UTSW 2 181,141,691 (GRCm39) missense probably benign 0.41
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'- TTGGTCACTTCCAGGAGTAGTC -3'
(R):5'- AGGCACAGTCCATAAGAACTCG -3'

Sequencing Primer
(F):5'- GTCACTTCCAGGAGTAGTCATAGC -3'
(R):5'- GTCCATAAGAACTCGAGTCTTCTGG -3'
Posted On 2016-10-05