Incidental Mutation 'IGL03394:Tpd52l2'
ID421181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpd52l2
Ensembl Gene ENSMUSG00000000827
Gene Nametumor protein D52-like 2
SynonymsD54, 2810411G23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03394
Quality Score
Status
Chromosome2
Chromosomal Location181497142-181517966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 181515086 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 172 (V172I)
Ref Sequence ENSEMBL: ENSMUSP00000068888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000149163] [ENSMUST00000184588] [ENSMUST00000184849]
Predicted Effect probably benign
Transcript: ENSMUST00000000844
AA Change: V178I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: V178I

DomainStartEndE-ValueType
Pfam:TPD52 28 199 6.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069712
AA Change: V172I

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: V172I

DomainStartEndE-ValueType
Pfam:TPD52 27 193 5.8e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108799
AA Change: V201I

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: V201I

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: V158I

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: V158I

DomainStartEndE-ValueType
Pfam:TPD52 27 179 2.9e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130261
Predicted Effect probably benign
Transcript: ENSMUST00000141825
SMART Domains Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 12 161 3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149163
AA Change: V192I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: V192I

DomainStartEndE-ValueType
Pfam:TPD52 28 213 5.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157753
Predicted Effect probably benign
Transcript: ENSMUST00000184588
Predicted Effect probably benign
Transcript: ENSMUST00000184849
AA Change: V157I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
AA Change: V157I

DomainStartEndE-ValueType
Pfam:TPD52 9 170 2.4e-54 PFAM
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,324,351 L242P probably damaging Het
Adam22 T C 5: 8,167,379 I139V probably benign Het
Ahr G T 12: 35,503,752 Y789* probably null Het
Ankrd27 C A 7: 35,607,098 probably null Het
Ano1 T C 7: 144,595,439 probably null Het
Ap4e1 T A 2: 127,063,397 M996K probably benign Het
Bglap T C 3: 88,384,005 K42E probably benign Het
Ccdc30 A T 4: 119,359,582 S220R probably damaging Het
Clic5 A G 17: 44,237,218 N50S probably benign Het
Cyp20a1 T G 1: 60,366,681 D211E probably damaging Het
Dctn1 G A 6: 83,191,284 V408I possibly damaging Het
Exoc6 T C 19: 37,599,572 I551T probably benign Het
Fat4 T A 3: 39,009,364 C4490S probably damaging Het
Fat4 C T 3: 38,892,019 T1687M probably damaging Het
Fras1 T A 5: 96,667,477 I1351N probably damaging Het
Gm10031 A T 1: 156,525,222 Q331L probably benign Het
Igkv2-116 T C 6: 68,152,343 noncoding transcript Het
Iws1 T G 18: 32,088,248 probably benign Het
Mlh1 A T 9: 111,268,243 I61N probably damaging Het
Mtmr7 C T 8: 40,608,929 V38M probably damaging Het
Myh7 G T 14: 54,975,361 A1409D probably damaging Het
Myt1 A T 2: 181,797,845 I387F probably damaging Het
Nars2 A G 7: 97,040,013 N381D possibly damaging Het
Nsd3 T C 8: 25,675,749 probably benign Het
Nup107 A G 10: 117,782,028 S162P probably damaging Het
Olfr904 A G 9: 38,464,221 Y60C probably damaging Het
Oog2 T C 4: 144,194,006 F3S probably benign Het
Oxgr1 T C 14: 120,022,610 M62V possibly damaging Het
Pcgf1 A G 6: 83,079,140 Y75C probably damaging Het
Ppp3cc C A 14: 70,225,028 E396* probably null Het
Ptx4 T A 17: 25,124,675 C300S probably damaging Het
Rassf4 C T 6: 116,641,747 V192I probably damaging Het
Rundc3b T C 5: 8,548,261 T203A possibly damaging Het
Serpinb3c T C 1: 107,271,873 D306G probably benign Het
Sipa1l2 T C 8: 125,491,659 E313G possibly damaging Het
Snx5 G A 2: 144,253,754 A329V probably damaging Het
Stx1b T C 7: 127,807,884 D213G probably damaging Het
Trim50 A T 5: 135,363,953 I241F probably damaging Het
Ttn G A 2: 76,750,416 H23378Y probably benign Het
Vmn1r193 T A 13: 22,219,769 M18L probably benign Het
Vmn1r226 A G 17: 20,688,184 N226S probably benign Het
Vmn2r14 T A 5: 109,219,836 Q430L probably null Het
Xirp2 T A 2: 67,515,194 V2593D probably damaging Het
Zfp169 A T 13: 48,489,924 F576I possibly damaging Het
Zfp667 T C 7: 6,289,439 probably null Het
Zzef1 A G 11: 72,886,775 probably null Het
Other mutations in Tpd52l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Tpd52l2 APN 2 181513068 missense probably damaging 1.00
IGL00593:Tpd52l2 APN 2 181499896 missense probably damaging 1.00
IGL02475:Tpd52l2 APN 2 181499874 missense probably benign 0.11
PIT4791001:Tpd52l2 UTSW 2 181499888 missense probably benign 0.02
R0276:Tpd52l2 UTSW 2 181502059 splice site probably null
R0615:Tpd52l2 UTSW 2 181501951 missense probably damaging 1.00
R4910:Tpd52l2 UTSW 2 181515212 unclassified probably benign
R5201:Tpd52l2 UTSW 2 181515086 missense probably benign 0.39
R5527:Tpd52l2 UTSW 2 181502054 critical splice donor site probably null
R5806:Tpd52l2 UTSW 2 181502887 missense probably damaging 1.00
R5809:Tpd52l2 UTSW 2 181511579 missense probably damaging 1.00
R5839:Tpd52l2 UTSW 2 181499898 missense probably benign 0.41
Posted On2016-08-02