Incidental Mutation 'IGL00593:Tpd52l2'
ID 332740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpd52l2
Ensembl Gene ENSMUSG00000000827
Gene Name tumor protein D52-like 2
Synonyms 2810411G23Rik, D54
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00593
Quality Score
Status
Chromosome 2
Chromosomal Location 181138935-181159759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 181141689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 24 (D24V)
Ref Sequence ENSEMBL: ENSMUSP00000104427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069649] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000184849] [ENSMUST00000149163] [ENSMUST00000184588]
AlphaFold Q9CYZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000000844
AA Change: D24V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: D24V

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 damaging
Transcript: ENSMUST00000069712
AA Change: D24V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: D24V

DomainStartEndE-ValueType
Pfam:TPD52 27 193 5.8e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108799
AA Change: D24V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: D24V

DomainStartEndE-ValueType
Pfam:TPD52 18 121 1.9e-38 PFAM
Pfam:TPD52 115 220 1.3e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108800
AA Change: D24V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: D24V

DomainStartEndE-ValueType
Pfam:TPD52 27 179 2.9e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129390
Predicted Effect possibly damaging
Transcript: ENSMUST00000184849
AA Change: D3V

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
AA Change: D3V

DomainStartEndE-ValueType
Pfam:TPD52 9 170 2.4e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149163
AA Change: D24V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: D24V

DomainStartEndE-ValueType
Pfam:TPD52 28 213 5.2e-54 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000141825
AA Change: D17V
SMART Domains Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
AA Change: D17V

DomainStartEndE-ValueType
Pfam:TPD52 12 161 3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183956
Predicted Effect probably benign
Transcript: ENSMUST00000184588
Coding Region Coverage
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,352,719 (GRCm39) K118* probably null Het
Akap14 A T X: 36,414,484 (GRCm39) H525Q possibly damaging Het
Crb1 T C 1: 139,250,983 (GRCm39) I323V probably benign Het
H60b T C 10: 22,162,962 (GRCm39) I179T possibly damaging Het
Krt34 A G 11: 99,929,520 (GRCm39) probably benign Het
Mroh9 T C 1: 162,873,350 (GRCm39) N541D possibly damaging Het
Plxnb1 A T 9: 108,942,936 (GRCm39) I1841F probably benign Het
Ppp4r3b A G 11: 29,147,205 (GRCm39) D3G possibly damaging Het
Rp1 T C 1: 4,415,626 (GRCm39) T1829A possibly damaging Het
Ssx2ip T C 3: 146,142,307 (GRCm39) F468L probably damaging Het
Togaram1 A G 12: 65,053,173 (GRCm39) E1301G probably damaging Het
Trmo A G 4: 46,382,490 (GRCm39) V209A probably benign Het
Zfp141 A T 7: 42,124,731 (GRCm39) C580* probably null Het
Zfp422 C A 6: 116,603,919 (GRCm39) A27S probably benign Het
Zfp786 A T 6: 47,796,605 (GRCm39) *778R probably null Het
Other mutations in Tpd52l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Tpd52l2 APN 2 181,154,861 (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
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
Posted On 2015-08-05