Incidental Mutation 'R8702:Tpd52l2'
ID 669106
Institutional Source Beutler Lab
Gene Symbol Tpd52l2
Ensembl Gene ENSMUSG00000000827
Gene Name tumor protein D52-like 2
Synonyms 2810411G23Rik, D54
MMRRC Submission 068556-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8702 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181138935-181159759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 181143749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 73 (H73Y)
Ref Sequence ENSEMBL: ENSMUSP00000117690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000149163] [ENSMUST00000184588] [ENSMUST00000184849]
AlphaFold Q9CYZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000000844
AA Change: H73Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: H73Y

DomainStartEndE-ValueType
Pfam:TPD52 28 199 6.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069712
AA Change: H73Y

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: H73Y

DomainStartEndE-ValueType
Pfam:TPD52 27 193 5.8e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108799
AA Change: H73Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: H73Y

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: H73Y

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: H73Y

DomainStartEndE-ValueType
Pfam:TPD52 27 179 2.9e-59 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
AA Change: H66Y

DomainStartEndE-ValueType
Pfam:TPD52 12 161 3e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149163
AA Change: H73Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: H73Y

DomainStartEndE-ValueType
Pfam:TPD52 28 213 5.2e-54 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000184588
AA Change: A24V
Predicted Effect probably damaging
Transcript: ENSMUST00000184849
AA Change: H52Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
AA Change: H52Y

DomainStartEndE-ValueType
Pfam:TPD52 9 170 2.4e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (33/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,297,415 (GRCm39) R501G probably damaging Het
Arhgap10 A G 8: 77,985,732 (GRCm39) F712L probably benign Het
Arhgef10 C A 8: 14,992,638 (GRCm39) A292E probably benign Het
Bub1b T A 2: 118,468,975 (GRCm39) D913E probably benign Het
Cfap61 T C 2: 146,042,710 (GRCm39) I1161T probably benign Het
Cfap91 A G 16: 38,152,674 (GRCm39) Y179H probably benign Het
Col4a3 A T 1: 82,688,700 (GRCm39) T1348S unknown Het
Dck T A 5: 88,926,272 (GRCm39) N239K probably damaging Het
Dmxl1 G A 18: 49,992,202 (GRCm39) R316H probably benign Het
Efl1 A G 7: 82,399,998 (GRCm39) probably null Het
Elac1 G T 18: 73,872,291 (GRCm39) Q235K probably benign Het
Fer1l4 C A 2: 155,861,310 (GRCm39) W1952L probably benign Het
Fyttd1 A G 16: 32,704,529 (GRCm39) K47E probably damaging Het
Gm14418 A T 2: 177,079,015 (GRCm39) Y327N probably damaging Het
Grxcr2 T C 18: 42,131,754 (GRCm39) D105G possibly damaging Het
Iqub A T 6: 24,461,914 (GRCm39) L506H probably damaging Het
Kcnj10 A G 1: 172,197,127 (GRCm39) T214A probably benign Het
Kcp A T 6: 29,482,750 (GRCm39) C1440S probably damaging Het
Lrrtm2 G T 18: 35,346,018 (GRCm39) A428D probably damaging Het
Neb T C 2: 52,085,717 (GRCm39) Y5506C probably damaging Het
Nrros T A 16: 31,966,589 (GRCm39) probably benign Het
Or5d35 T C 2: 87,855,839 (GRCm39) F258L possibly damaging Het
Or6c65 A T 10: 129,604,284 (GRCm39) L306F probably benign Het
Oxct1 T C 15: 4,183,243 (GRCm39) S485P probably benign Het
Pakap C T 4: 57,709,489 (GRCm39) Q145* probably null Het
Pecr G T 1: 72,306,661 (GRCm39) Q207K probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rev3l T A 10: 39,714,465 (GRCm39) Y2396* probably null Het
Serbp1 G T 6: 67,244,156 (GRCm39) D26Y probably damaging Het
Sirt3 A T 7: 140,458,027 (GRCm39) C41S Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tcaf2 A T 6: 42,619,701 (GRCm39) S109T probably benign Het
Xkr6 G T 14: 64,057,103 (GRCm39) W594L unknown 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
R5839:Tpd52l2 UTSW 2 181,141,691 (GRCm39) missense probably benign 0.41
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'- TTGTTGGTCACTTCCAGGAG -3'
(R):5'- TGGGCTCATTCAATGCTGATTG -3'

Sequencing Primer
(F):5'- GTCACTTCCAGGAGTAGTCATAGC -3'
(R):5'- GCTCATTCAATGCTGATTGTTGTATC -3'
Posted On 2021-04-30