Incidental Mutation 'R3103:Ppt1'
ID 262891
Institutional Source Beutler Lab
Gene Symbol Ppt1
Ensembl Gene ENSMUSG00000028657
Gene Name palmitoyl-protein thioesterase 1
Synonyms CLN1, D4Ertd184e, 9530043G02Rik
MMRRC Submission 040577-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3103 (G1)
Quality Score 158
Status Not validated
Chromosome 4
Chromosomal Location 122836242-122859175 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122836307 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 18 (C18R)
Ref Sequence ENSEMBL: ENSMUSP00000030412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030412] [ENSMUST00000097902] [ENSMUST00000120157] [ENSMUST00000121870]
AlphaFold O88531
Predicted Effect probably benign
Transcript: ENSMUST00000030412
AA Change: C18R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657
AA Change: C18R

signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 306 3.6e-208 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000097902
AA Change: C18R
SMART Domains Protein: ENSMUSP00000095512
Gene: ENSMUSG00000028657
AA Change: C18R

signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 188 4e-110 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000120157
AA Change: C18R
SMART Domains Protein: ENSMUSP00000113258
Gene: ENSMUSG00000028657
AA Change: C18R

signal peptide 1 25 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121870
AA Change: C18R
SMART Domains Protein: ENSMUSP00000113367
Gene: ENSMUSG00000028657
AA Change: C18R

signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 179 6e-108 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,610,984 probably null Het
Adap2 G T 11: 80,157,033 C105F probably damaging Het
Bace2 T C 16: 97,422,001 probably null Het
Bpifc A G 10: 85,993,422 S94P probably damaging Het
C2cd3 A G 7: 100,395,252 D347G possibly damaging Het
Cad T C 5: 31,061,674 V613A possibly damaging Het
Ccdc47 T C 11: 106,202,841 H6R probably benign Het
Celsr3 A G 9: 108,837,139 T1956A probably benign Het
Cep128 T A 12: 91,019,344 D1006V probably damaging Het
Cog3 T C 14: 75,747,201 probably null Het
Csmd1 C T 8: 15,917,405 V3153M probably damaging Het
Ctnna2 T C 6: 77,653,144 E122G possibly damaging Het
Cts8 T A 13: 61,250,958 I245F probably damaging Het
Ddx27 T A 2: 167,026,246 V333E probably damaging Het
Dmpk A G 7: 19,087,654 Y279C probably damaging Het
Dpagt1 A G 9: 44,327,995 I111V probably benign Het
Dvl2 C A 11: 70,008,869 P546T possibly damaging Het
Fat4 G T 3: 38,891,940 A1661S probably benign Het
Gcm1 A G 9: 78,064,452 N225S probably damaging Het
Gcnt2 A T 13: 40,918,606 M242L probably benign Het
Golgb1 A G 16: 36,894,849 R226G probably damaging Het
Gpr63 G A 4: 25,007,353 V26I probably benign Het
Grik2 A G 10: 49,240,772 L631P probably damaging Het
Hapln3 T C 7: 79,121,736 D135G probably benign Het
Il31ra C A 13: 112,530,351 V398F probably damaging Het
Ipp G T 4: 116,524,249 R315L possibly damaging Het
Kcmf1 A G 6: 72,861,847 L32P probably damaging Het
Klf17 T A 4: 117,760,608 Q184L possibly damaging Het
Lrp2 C T 2: 69,431,984 V4442I probably benign Het
Lrrfip2 A T 9: 111,222,210 E293D probably damaging Het
Oit3 A G 10: 59,438,891 I29T probably damaging Het
Olfr403 G A 11: 74,196,075 D191N probably benign Het
Olfr50 T C 2: 36,793,562 C109R possibly damaging Het
Olfr555 T C 7: 102,659,481 V220A probably benign Het
Plb1 T A 5: 32,328,029 M842K possibly damaging Het
Pstpip2 T C 18: 77,871,777 Y191H probably damaging Het
Ryr1 C T 7: 29,074,948 V2361I probably damaging Het
Serpinb11 A G 1: 107,377,608 N238S probably benign Het
Skor2 A T 18: 76,859,278 K232* probably null Het
Slc13a5 A T 11: 72,257,388 W231R probably damaging Het
Svs5 A T 2: 164,333,393 E55V probably benign Het
Tfcp2 A T 15: 100,525,600 W142R probably damaging Het
Trpc2 A T 7: 102,095,234 I738F possibly damaging Het
Vmn2r61 T A 7: 42,266,643 S227T possibly damaging Het
Zfhx4 A G 3: 5,399,326 T1540A probably damaging Het
Zfp616 A G 11: 74,071,735 T74A probably benign Het
Other mutations in Ppt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Ppt1 APN 4 122844007 missense probably damaging 1.00
IGL01346:Ppt1 APN 4 122844055 missense probably damaging 0.98
IGL01511:Ppt1 APN 4 122854425 missense probably damaging 0.99
IGL01719:Ppt1 APN 4 122844067 missense probably damaging 1.00
R0008:Ppt1 UTSW 4 122848423 splice site probably benign
R0008:Ppt1 UTSW 4 122848423 splice site probably benign
R0646:Ppt1 UTSW 4 122844099 missense probably benign
R1542:Ppt1 UTSW 4 122857609 missense probably benign
R1938:Ppt1 UTSW 4 122845991 missense probably damaging 1.00
R4862:Ppt1 UTSW 4 122844449 missense probably damaging 1.00
R7659:Ppt1 UTSW 4 122836333 missense probably benign 0.01
R7753:Ppt1 UTSW 4 122836338 missense possibly damaging 0.50
R9483:Ppt1 UTSW 4 122857574 missense possibly damaging 0.58
X0020:Ppt1 UTSW 4 122844434 missense possibly damaging 0.87
X0035:Ppt1 UTSW 4 122848518 frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-02-05