Incidental Mutation 'R0225:Tpd52l1'
ID 33862
Institutional Source Beutler Lab
Gene Symbol Tpd52l1
Ensembl Gene ENSMUSG00000000296
Gene Name tumor protein D52-like 1
Synonyms D53
MMRRC Submission 038470-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0225 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 31332376-31445958 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31379256 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 32 (S32P)
Ref Sequence ENSEMBL: ENSMUSP00000149177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000305] [ENSMUST00000213528] [ENSMUST00000213639] [ENSMUST00000214644] [ENSMUST00000215515]
AlphaFold O54818
Predicted Effect probably damaging
Transcript: ENSMUST00000000305
AA Change: S32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: S32P

Pfam:TPD52 9 187 1.3e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213528
AA Change: S32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213639
AA Change: S32P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214644
AA Change: S32P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215515
AA Change: S32P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.3354 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik G A 18: 38,261,264 (GRCm38) V505I probably benign Het
4931417E11Rik A G 6: 73,469,419 (GRCm38) L49P possibly damaging Het
Abca16 T A 7: 120,540,155 (GRCm38) L1470Q probably damaging Het
Abraxas2 G A 7: 132,874,855 (GRCm38) R105Q probably damaging Het
Arhgap23 G T 11: 97,444,328 (GRCm38) V70L probably benign Het
AW549877 T C 15: 3,986,294 (GRCm38) K263E probably damaging Het
Bicd1 T C 6: 149,512,950 (GRCm38) I387T probably benign Het
Cd59b G A 2: 104,078,941 (GRCm38) probably null Het
Chn2 T C 6: 54,290,451 (GRCm38) probably benign Het
Col18a1 T C 10: 77,088,914 (GRCm38) S14G possibly damaging Het
Col5a2 A G 1: 45,407,035 (GRCm38) I461T probably benign Het
Dnlz T C 2: 26,351,368 (GRCm38) N116S probably damaging Het
Esyt2 A G 12: 116,367,710 (GRCm38) N736S probably damaging Het
F11 T C 8: 45,249,077 (GRCm38) T267A probably benign Het
Fam234b T G 6: 135,217,074 (GRCm38) S242A possibly damaging Het
Gadd45b A G 10: 80,930,347 (GRCm38) N11S probably benign Het
Garnl3 T C 2: 33,006,804 (GRCm38) T608A possibly damaging Het
Gata3 T C 2: 9,874,809 (GRCm38) T119A probably benign Het
Gm10647 A G 9: 66,798,495 (GRCm38) probably benign Het
Gm10936 G A 10: 117,248,130 (GRCm38) noncoding transcript Het
Gzmd A G 14: 56,129,704 (GRCm38) W244R probably damaging Het
Hdac2 T A 10: 36,989,184 (GRCm38) D131E probably benign Het
Hira T A 16: 18,956,171 (GRCm38) F949I probably benign Het
Ighv15-2 T G 12: 114,565,037 (GRCm38) probably benign Het
Il3 A G 11: 54,265,680 (GRCm38) probably null Het
Itgae A C 11: 73,111,342 (GRCm38) M91L probably benign Het
Kat2b A G 17: 53,641,210 (GRCm38) E336G probably damaging Het
Kctd21 T A 7: 97,348,091 (GRCm38) I257N probably benign Het
Kif23 C G 9: 61,925,694 (GRCm38) probably benign Het
Lgi3 A T 14: 70,532,821 (GRCm38) I109L probably benign Het
Lhx9 A T 1: 138,838,679 (GRCm38) C124S probably damaging Het
Lipo4 A G 19: 33,501,606 (GRCm38) V278A probably benign Het
Lrch3 T A 16: 32,961,754 (GRCm38) probably benign Het
Lrp1b T C 2: 40,596,983 (GRCm38) E142G probably damaging Het
Map9 G A 3: 82,359,983 (GRCm38) probably benign Het
Miox C T 15: 89,334,454 (GRCm38) probably benign Het
Mndal A T 1: 173,857,513 (GRCm38) probably benign Het
Mug2 G T 6: 122,074,714 (GRCm38) V952L possibly damaging Het
Nepn A T 10: 52,400,437 (GRCm38) T29S probably damaging Het
Olfr1055 T C 2: 86,347,728 (GRCm38) I13V possibly damaging Het
Olfr307 A G 7: 86,335,595 (GRCm38) I267T probably benign Het
Olfr729 T G 14: 50,148,635 (GRCm38) K80Q probably damaging Het
Olfr933 A G 9: 38,976,278 (GRCm38) I201V probably benign Het
Phf3 A T 1: 30,805,065 (GRCm38) D1604E probably benign Het
Plekhn1 T C 4: 156,228,243 (GRCm38) R53G probably benign Het
Prickle1 A G 15: 93,510,777 (GRCm38) L47P possibly damaging Het
Ptar1 T A 19: 23,718,095 (GRCm38) C309S probably benign Het
Rapgef2 A T 3: 79,104,105 (GRCm38) S224R probably damaging Het
Siglecg G A 7: 43,411,171 (GRCm38) G325D probably damaging Het
Skor2 A T 18: 76,859,098 (GRCm38) I172F unknown Het
Slc9a1 A G 4: 133,420,605 (GRCm38) K645E probably benign Het
St14 T A 9: 31,108,284 (GRCm38) probably null Het
Tas2r120 T A 6: 132,657,589 (GRCm38) Y211* probably null Het
Tbxa2r C A 10: 81,332,900 (GRCm38) T141K possibly damaging Het
Ttn C A 2: 76,793,130 (GRCm38) V15368L possibly damaging Het
Ttn T A 2: 76,710,124 (GRCm38) R34173W probably damaging Het
Tyms A G 5: 30,063,258 (GRCm38) I148T probably damaging Het
Vmn1r45 A T 6: 89,933,510 (GRCm38) Y159* probably null Het
Vmn1r58 A C 7: 5,410,866 (GRCm38) S122A probably benign Het
Vmn2r13 C A 5: 109,175,049 (GRCm38) V125L probably benign Het
Vmn2r92 C T 17: 18,167,957 (GRCm38) A408V probably damaging Het
Vps13b T C 15: 35,887,261 (GRCm38) I3272T probably benign Het
Wfdc8 A G 2: 164,597,185 (GRCm38) Y426H probably benign Het
Zfp948 A T 17: 21,587,294 (GRCm38) K249N probably damaging Het
Zfyve1 A G 12: 83,555,073 (GRCm38) probably benign Het
Zyg11a G A 4: 108,204,641 (GRCm38) T321I probably damaging Het
Other mutations in Tpd52l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0123:Tpd52l1 UTSW 10 31,379,256 (GRCm38) missense probably damaging 1.00
R0134:Tpd52l1 UTSW 10 31,379,256 (GRCm38) missense probably damaging 1.00
R4411:Tpd52l1 UTSW 10 31,379,319 (GRCm38) missense possibly damaging 0.88
R4828:Tpd52l1 UTSW 10 31,346,701 (GRCm38) missense probably damaging 1.00
R5073:Tpd52l1 UTSW 10 31,357,920 (GRCm38) missense probably damaging 1.00
R5925:Tpd52l1 UTSW 10 31,332,947 (GRCm38) missense probably benign 0.18
R6332:Tpd52l1 UTSW 10 31,338,207 (GRCm38) missense probably damaging 1.00
R6848:Tpd52l1 UTSW 10 31,332,857 (GRCm38) missense probably benign 0.03
R6906:Tpd52l1 UTSW 10 31,332,954 (GRCm38) missense possibly damaging 0.47
R7900:Tpd52l1 UTSW 10 31,338,182 (GRCm38) splice site probably null
R7935:Tpd52l1 UTSW 10 31,338,205 (GRCm38) missense probably damaging 0.99
R8010:Tpd52l1 UTSW 10 31,358,013 (GRCm38) missense possibly damaging 0.89
R8011:Tpd52l1 UTSW 10 31,332,917 (GRCm38) missense probably benign
R8835:Tpd52l1 UTSW 10 31,379,318 (GRCm38) missense probably benign 0.04
R9321:Tpd52l1 UTSW 10 31,338,193 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- tgttcttgccccagattcc -3'
Posted On 2013-05-09