Incidental Mutation 'R1542:Ppt1'
ID 171799
Institutional Source Beutler Lab
Gene Symbol Ppt1
Ensembl Gene ENSMUSG00000028657
Gene Name palmitoyl-protein thioesterase 1
Synonyms CLN1, D4Ertd184e, 9530043G02Rik
MMRRC Submission 039581-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1542 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 122836242-122859175 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122857609 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 300 (H300N)
Ref Sequence ENSEMBL: ENSMUSP00000030412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030412] [ENSMUST00000069533] [ENSMUST00000106255] [ENSMUST00000106257] [ENSMUST00000120157]
AlphaFold O88531
Predicted Effect probably benign
Transcript: ENSMUST00000030412
AA Change: H300N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657
AA Change: H300N

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

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

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

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

signal peptide 1 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150919
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,414,406 (GRCm38) M208T possibly damaging Het
Acsbg2 T A 17: 56,849,791 (GRCm38) I416F probably damaging Het
Adam6b G A 12: 113,490,939 (GRCm38) D459N possibly damaging Het
Adprh A T 16: 38,445,924 (GRCm38) D285E probably damaging Het
Aggf1 A T 13: 95,370,942 (GRCm38) C112S probably benign Het
Als2cl T C 9: 110,894,034 (GRCm38) V602A probably benign Het
Angptl2 G T 2: 33,228,885 (GRCm38) V224F probably benign Het
Ap3b2 A T 7: 81,478,077 (GRCm38) probably null Het
Aqp2 A C 15: 99,583,842 (GRCm38) I206L probably benign Het
Asap2 A G 12: 21,265,997 (GRCm38) D930G probably damaging Het
Cacna1e T A 1: 154,477,779 (GRCm38) M682L probably benign Het
Ccdc18 A G 5: 108,212,188 (GRCm38) N1146S probably benign Het
Ccr4 G A 9: 114,492,005 (GRCm38) H331Y probably benign Het
Cd33 A G 7: 43,532,106 (GRCm38) L210P probably damaging Het
Cep85l T C 10: 53,301,584 (GRCm38) E351G probably damaging Het
Cntn6 C A 6: 104,848,100 (GRCm38) T867K probably damaging Het
Cpeb2 C T 5: 43,285,875 (GRCm38) R970C probably damaging Het
Cul7 T A 17: 46,663,190 (GRCm38) L1467H probably damaging Het
Dscaml1 T A 9: 45,749,440 (GRCm38) I1693K possibly damaging Het
Ebf4 A T 2: 130,365,498 (GRCm38) M621L probably benign Het
Elp4 G T 2: 105,794,609 (GRCm38) T313N probably benign Het
Epas1 T A 17: 86,824,490 (GRCm38) I373N possibly damaging Het
Etnk1 A T 6: 143,180,641 (GRCm38) M71L probably benign Het
Fry C T 5: 150,404,966 (GRCm38) T1257I probably benign Het
Gm21834 A G 17: 57,741,951 (GRCm38) F90S possibly damaging Het
Gm8674 T A 13: 49,900,003 (GRCm38) noncoding transcript Het
Gna11 T C 10: 81,533,328 (GRCm38) T134A probably benign Het
Golga5 C T 12: 102,474,720 (GRCm38) S238F probably damaging Het
Grin2a T A 16: 9,579,203 (GRCm38) N1007Y probably damaging Het
H3c6 A G 13: 23,562,164 (GRCm38) F68L probably damaging Het
Ifnar2 G A 16: 91,399,265 (GRCm38) V253M possibly damaging Het
Insl5 A T 4: 103,018,185 (GRCm38) S123T probably damaging Het
Itgb2 T C 10: 77,559,486 (GRCm38) S474P probably benign Het
Kcnb2 A G 1: 15,710,788 (GRCm38) H628R probably benign Het
L3mbtl2 G A 15: 81,682,151 (GRCm38) D392N probably null Het
Lrp1b G T 2: 41,123,712 (GRCm38) T1813K probably damaging Het
Map3k4 A G 17: 12,235,906 (GRCm38) L1399P probably damaging Het
Mbtps1 A C 8: 119,546,247 (GRCm38) probably null Het
Mettl25 A T 10: 105,826,120 (GRCm38) S330T probably benign Het
Mical2 T C 7: 112,309,468 (GRCm38) L211P probably damaging Het
Mmrn1 T A 6: 60,945,118 (GRCm38) S186R probably damaging Het
Mob3b C A 4: 35,084,046 (GRCm38) V48L possibly damaging Het
Napsa A T 7: 44,581,689 (GRCm38) H114L probably damaging Het
Nsmce4a A T 7: 130,545,893 (GRCm38) probably null Het
Nup62 A G 7: 44,829,929 (GRCm38) K456R possibly damaging Het
Nwd2 T A 5: 63,806,975 (GRCm38) W1301R probably damaging Het
Olfr364-ps1 T A 2: 37,146,966 (GRCm38) S251R probably damaging Het
Oprm1 G T 10: 6,788,960 (GRCm38) W29L probably damaging Het
Or10al2 A T 17: 37,672,251 (GRCm38) E76V probably damaging Het
Or2c1 T A 16: 3,839,832 (GRCm38) N286K probably damaging Het
Or5w17 A G 2: 87,753,318 (GRCm38) V225A probably damaging Het
Pals2 A G 6: 50,198,326 (GRCm38) Y539C probably damaging Het
Pcnt T G 10: 76,389,387 (GRCm38) N1761T probably benign Het
Pcnt C T 10: 76,401,386 (GRCm38) M1355I probably benign Het
Pde11a A T 2: 76,046,855 (GRCm38) S757T probably benign Het
Pde6a T A 18: 61,257,045 (GRCm38) I490N possibly damaging Het
Pgap1 A G 1: 54,492,090 (GRCm38) V742A probably benign Het
Pik3c2b T C 1: 133,090,034 (GRCm38) L915P probably damaging Het
Pkd1l1 A G 11: 8,874,179 (GRCm38) C1129R possibly damaging Het
Pkhd1l1 A T 15: 44,528,191 (GRCm38) H1551L probably benign Het
Plxnb2 C T 15: 89,165,921 (GRCm38) C491Y probably damaging Het
Prpf3 T A 3: 95,836,470 (GRCm38) Q457L probably benign Het
Ranbp17 C T 11: 33,264,672 (GRCm38) V914I probably benign Het
Rasal2 T C 1: 157,175,851 (GRCm38) I413V possibly damaging Het
Rb1cc1 G A 1: 6,244,249 (GRCm38) V382I possibly damaging Het
Rere T A 4: 150,615,942 (GRCm38) F1125I probably damaging Het
Rprd2 A T 3: 95,765,676 (GRCm38) V805E possibly damaging Het
Septin10 T G 10: 59,166,606 (GRCm38) E162A probably damaging Het
Septin12 G T 16: 4,992,295 (GRCm38) D125E probably benign Het
Serpina6 A G 12: 103,654,473 (GRCm38) Y6H probably benign Het
Serpinb3c T C 1: 107,272,787 (GRCm38) M209V probably damaging Het
Slc2a7 A T 4: 150,168,471 (GRCm38) T523S probably damaging Het
Smdt1 T C 15: 82,346,175 (GRCm38) V31A possibly damaging Het
Snrnp48 T C 13: 38,220,704 (GRCm38) I245T probably damaging Het
Spink2 G A 5: 77,206,965 (GRCm38) T33I probably damaging Het
Sptan1 A G 2: 30,027,127 (GRCm38) T2204A probably damaging Het
Synj2 A G 17: 6,025,017 (GRCm38) D306G probably benign Het
Tas2r109 A G 6: 132,980,910 (GRCm38) I19T possibly damaging Het
Tbk1 C T 10: 121,559,935 (GRCm38) V418M probably benign Het
Tcerg1 A G 18: 42,553,430 (GRCm38) E684G probably damaging Het
Tenm2 T C 11: 36,300,220 (GRCm38) N308S probably damaging Het
Tfb2m A T 1: 179,537,861 (GRCm38) probably null Het
Tmc1 T A 19: 20,816,122 (GRCm38) L558F probably damaging Het
Tmprss5 T A 9: 49,109,134 (GRCm38) I80N possibly damaging Het
Trappc2l G A 8: 122,615,407 (GRCm38) V131M probably damaging Het
Trpm7 A C 2: 126,822,599 (GRCm38) Y953* probably null Het
Ttn T C 2: 76,753,515 (GRCm38) R22383G probably damaging Het
Ugt1a6b G A 1: 88,107,261 (GRCm38) G107D probably benign Het
Vmn1r197 A T 13: 22,328,350 (GRCm38) Y147F probably benign Het
Zfp507 A T 7: 35,794,801 (GRCm38) N272K possibly damaging Het
Zfp526 G A 7: 25,226,262 (GRCm38) E649K probably benign Het
Zswim6 G A 13: 107,727,234 (GRCm38) noncoding transcript Het
Other mutations in Ppt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Ppt1 APN 4 122,844,007 (GRCm38) missense probably damaging 1.00
IGL01346:Ppt1 APN 4 122,844,055 (GRCm38) missense probably damaging 0.98
IGL01511:Ppt1 APN 4 122,854,425 (GRCm38) missense probably damaging 0.99
IGL01719:Ppt1 APN 4 122,844,067 (GRCm38) missense probably damaging 1.00
R0008:Ppt1 UTSW 4 122,848,423 (GRCm38) splice site probably benign
R0008:Ppt1 UTSW 4 122,848,423 (GRCm38) splice site probably benign
R0646:Ppt1 UTSW 4 122,844,099 (GRCm38) missense probably benign
R1938:Ppt1 UTSW 4 122,845,991 (GRCm38) missense probably damaging 1.00
R3103:Ppt1 UTSW 4 122,836,307 (GRCm38) missense probably benign 0.00
R4862:Ppt1 UTSW 4 122,844,449 (GRCm38) missense probably damaging 1.00
R7659:Ppt1 UTSW 4 122,836,333 (GRCm38) missense probably benign 0.01
R7753:Ppt1 UTSW 4 122,836,338 (GRCm38) missense possibly damaging 0.50
R9483:Ppt1 UTSW 4 122,857,574 (GRCm38) missense possibly damaging 0.58
X0020:Ppt1 UTSW 4 122,844,434 (GRCm38) missense possibly damaging 0.87
X0035:Ppt1 UTSW 4 122,848,518 (GRCm38) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- ctagagctgcaaagcaagac -3'
Posted On 2014-04-13