Incidental Mutation 'R9483:Ppt1'
ID 716356
Institutional Source Beutler Lab
Gene Symbol Ppt1
Ensembl Gene ENSMUSG00000028657
Gene Name palmitoyl-protein thioesterase 1
Synonyms CLN1, 9530043G02Rik, D4Ertd184e
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 122730035-122752968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122751367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 288 (D288V)
Ref Sequence ENSEMBL: ENSMUSP00000030412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030412] [ENSMUST00000069533] [ENSMUST00000106255] [ENSMUST00000106257] [ENSMUST00000120157]
AlphaFold O88531
Predicted Effect possibly damaging
Transcript: ENSMUST00000030412
AA Change: D288V

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657
AA Change: D288V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 306 3.6e-208 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069533
SMART Domains Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656

DomainStartEndE-ValueType
Pfam:CAP_N 4 304 1e-129 PFAM
CARP 355 392 2.09e-9 SMART
CARP 393 430 1.18e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106255
SMART Domains Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656

DomainStartEndE-ValueType
Pfam:CAP_N 5 294 4.2e-116 PFAM
CARP 355 392 2.09e-9 SMART
CARP 393 430 1.18e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106257
SMART Domains Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656

DomainStartEndE-ValueType
Pfam:CAP_N 4 304 1e-129 PFAM
CARP 355 392 2.09e-9 SMART
CARP 393 430 1.18e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120157
SMART Domains Protein: ENSMUSP00000113258
Gene: ENSMUSG00000028657

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,339,010 (GRCm39) M334K probably benign Het
Abca1 A T 4: 53,060,351 (GRCm39) I1525N probably benign Het
Abca4 A T 3: 121,879,275 (GRCm39) I398F Het
Acbd3 A G 1: 180,572,721 (GRCm39) D327G probably benign Het
Acsm3 A G 7: 119,383,166 (GRCm39) T544A probably damaging Het
Atp11a C T 8: 12,901,087 (GRCm39) T972M probably damaging Het
Cbfb C T 8: 105,929,123 (GRCm39) R147* probably null Het
Ccdc17 G T 4: 116,454,144 (GRCm39) R54L probably benign Het
Cracdl T G 1: 37,670,496 (GRCm39) E148A probably damaging Het
Cuedc2 G T 19: 46,319,399 (GRCm39) A223E probably benign Het
Cul5 T C 9: 53,532,474 (GRCm39) I787V probably benign Het
D430041D05Rik T A 2: 104,087,563 (GRCm39) H471L probably benign Het
Ddx39a T C 8: 84,448,916 (GRCm39) Y264H probably benign Het
Dlgap3 C A 4: 127,127,665 (GRCm39) R778S probably damaging Het
Esrrg T C 1: 187,930,848 (GRCm39) V313A probably damaging Het
Fam124a T C 14: 62,844,100 (GRCm39) I536T probably damaging Het
Fbxo21 T C 5: 118,127,272 (GRCm39) F275L possibly damaging Het
Gabrg1 C A 5: 70,999,558 (GRCm39) G2V possibly damaging Het
Gcc1 G T 6: 28,418,089 (GRCm39) A748D probably damaging Het
Gjb6 T C 14: 57,361,511 (GRCm39) D250G probably benign Het
Gm44501 A T 17: 40,889,872 (GRCm39) K129* probably null Het
Hmcn2 T G 2: 31,320,375 (GRCm39) L3952R Het
Hpd A G 5: 123,312,535 (GRCm39) I278T probably damaging Het
Igsf3 T A 3: 101,346,904 (GRCm39) F613Y probably damaging Het
Igsf3 T C 3: 101,346,817 (GRCm39) F584S probably damaging Het
Ik A G 18: 36,886,635 (GRCm39) D369G probably benign Het
Ikbke A G 1: 131,198,719 (GRCm39) L365P probably damaging Het
Il22ra2 A T 10: 19,508,542 (GRCm39) Q190L possibly damaging Het
Itga6 T C 2: 71,679,834 (GRCm39) V1033A probably benign Het
Kif18a T C 2: 109,120,032 (GRCm39) Y112H probably damaging Het
Krt75 T C 15: 101,482,238 (GRCm39) H10R probably benign Het
L3mbtl1 T A 2: 162,790,734 (GRCm39) L93H probably benign Het
Lrfn1 G A 7: 28,158,183 (GRCm39) C34Y probably damaging Het
Lrrc47 A T 4: 154,101,920 (GRCm39) I396F probably damaging Het
Mgat3 T A 15: 80,095,641 (GRCm39) V156E probably benign Het
Mtus2 A G 5: 148,232,300 (GRCm39) D1120G possibly damaging Het
Muc5ac G T 7: 141,365,465 (GRCm39) E2700* probably null Het
Nxpe5 A T 5: 138,228,591 (GRCm39) probably benign Het
Or51v15-ps1 T C 7: 103,278,931 (GRCm39) T79A probably damaging Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pcdhga4 T A 18: 37,819,746 (GRCm39) S432T possibly damaging Het
Pdk4 T A 6: 5,486,716 (GRCm39) M353L probably benign Het
Ppp1r13b T A 12: 111,800,210 (GRCm39) K645N probably benign Het
Prkcb A G 7: 122,181,663 (GRCm39) Y417C probably damaging Het
Prss22 A G 17: 24,215,721 (GRCm39) I67T probably damaging Het
Rab29 T C 1: 131,795,508 (GRCm39) V40A possibly damaging Het
Rae1 T C 2: 172,849,941 (GRCm39) probably null Het
Rasa3 C T 8: 13,630,033 (GRCm39) probably null Het
Rasgrp3 A G 17: 75,807,717 (GRCm39) D258G probably benign Het
Rcc1 T A 4: 132,062,808 (GRCm39) T208S probably benign Het
Rgs3 C A 4: 62,575,354 (GRCm39) Y580* probably null Het
Rpe65 C T 3: 159,328,318 (GRCm39) P405S probably damaging Het
Rsf1 GGCGGC GGCGGCGGCAGCGGC 7: 97,229,137 (GRCm39) probably benign Het
Rsph4a A G 10: 33,790,418 (GRCm39) E669G probably damaging Het
Rusc1 A T 3: 88,994,113 (GRCm39) V964E probably benign Het
Rusc2 A G 4: 43,415,897 (GRCm39) N401S probably damaging Het
Slc10a1 G T 12: 81,002,864 (GRCm39) T258K probably damaging Het
Slc5a9 A G 4: 111,747,418 (GRCm39) L323P probably damaging Het
Slc6a17 T A 3: 107,378,772 (GRCm39) I637F possibly damaging Het
Slc8a2 A G 7: 15,886,780 (GRCm39) E641G possibly damaging Het
Sptbn2 G T 19: 4,789,974 (GRCm39) A1321S probably damaging Het
Ssh2 G T 11: 77,283,976 (GRCm39) A77S possibly damaging Het
St13 G T 15: 81,250,587 (GRCm39) N316K probably damaging Het
Taf10 A G 7: 105,393,062 (GRCm39) M121T probably benign Het
Tcta T C 9: 108,182,942 (GRCm39) T68A probably damaging Het
Timd2 A T 11: 46,577,889 (GRCm39) Y81N probably damaging Het
Tln2 T C 9: 67,299,769 (GRCm39) E161G probably damaging Het
Tmed10 T C 12: 85,397,621 (GRCm39) I123V probably benign Het
Ttf1 T C 2: 28,969,492 (GRCm39) probably null Het
Tubg1 A G 11: 101,016,886 (GRCm39) D396G probably damaging Het
Uhmk1 A G 1: 170,034,913 (GRCm39) probably null Het
Unc13a C T 8: 72,103,221 (GRCm39) A922T probably benign Het
Usp24 T A 4: 106,219,379 (GRCm39) V525E probably damaging Het
Usp28 C A 9: 48,947,037 (GRCm39) Q823K probably damaging Het
Vldlr A T 19: 27,224,031 (GRCm39) I764F probably benign Het
Vmn2r88 T C 14: 51,648,641 (GRCm39) Y62H Het
Zfp423 T A 8: 88,507,725 (GRCm39) N873I possibly damaging Het
Other mutations in Ppt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Ppt1 APN 4 122,737,800 (GRCm39) missense probably damaging 1.00
IGL01346:Ppt1 APN 4 122,737,848 (GRCm39) missense probably damaging 0.98
IGL01511:Ppt1 APN 4 122,748,218 (GRCm39) missense probably damaging 0.99
IGL01719:Ppt1 APN 4 122,737,860 (GRCm39) missense probably damaging 1.00
R0008:Ppt1 UTSW 4 122,742,216 (GRCm39) splice site probably benign
R0008:Ppt1 UTSW 4 122,742,216 (GRCm39) splice site probably benign
R0646:Ppt1 UTSW 4 122,737,892 (GRCm39) missense probably benign
R1542:Ppt1 UTSW 4 122,751,402 (GRCm39) missense probably benign
R1938:Ppt1 UTSW 4 122,739,784 (GRCm39) missense probably damaging 1.00
R3103:Ppt1 UTSW 4 122,730,100 (GRCm39) missense probably benign 0.00
R4862:Ppt1 UTSW 4 122,738,242 (GRCm39) missense probably damaging 1.00
R7659:Ppt1 UTSW 4 122,730,126 (GRCm39) missense probably benign 0.01
R7753:Ppt1 UTSW 4 122,730,131 (GRCm39) missense possibly damaging 0.50
X0020:Ppt1 UTSW 4 122,738,227 (GRCm39) missense possibly damaging 0.87
X0035:Ppt1 UTSW 4 122,742,311 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TACTGAAGGGAAAGTGTGTATCTTG -3'
(R):5'- CATATGGTGATAGCAGGCGG -3'

Sequencing Primer
(F):5'- GTCCTTTCTCTCTACAGGA -3'
(R):5'- AGATCTTAGATCTTTCCAAGTAGGG -3'
Posted On 2022-07-18