Incidental Mutation 'IGL02547:Pced1a'
ID 297883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pced1a
Ensembl Gene ENSMUSG00000037773
Gene Name PC-esterase domain containing 1A
Synonyms A930025D01Rik, Fam113a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02547
Quality Score
Status
Chromosome 2
Chromosomal Location 130259603-130266692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130261627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 342 (D342G)
Ref Sequence ENSEMBL: ENSMUSP00000105906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000089581] [ENSMUST00000110277] [ENSMUST00000128994]
AlphaFold Q6P1Z5
Predicted Effect probably benign
Transcript: ENSMUST00000028900
SMART Domains Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411

DomainStartEndE-ValueType
Pfam:Vps16_N 4 420 1e-166 PFAM
low complexity region 452 462 N/A INTRINSIC
Pfam:Vps16_C 517 835 5.5e-150 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000089581
AA Change: D342G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: D342G

DomainStartEndE-ValueType
Pfam:PC-Esterase 18 267 4e-52 PFAM
low complexity region 308 346 N/A INTRINSIC
low complexity region 376 391 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110277
AA Change: D342G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: D342G

DomainStartEndE-ValueType
Pfam:PC-Esterase 21 268 3.8e-51 PFAM
low complexity region 308 346 N/A INTRINSIC
low complexity region 376 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125973
Predicted Effect probably benign
Transcript: ENSMUST00000128994
SMART Domains Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411

DomainStartEndE-ValueType
Pfam:Vps16_N 4 212 3.2e-74 PFAM
Pfam:Vps16_N 205 316 1e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131561
Coding Region Coverage
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 member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Pced1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Pced1a APN 2 130,261,098 (GRCm39) missense probably benign 0.00
IGL02173:Pced1a APN 2 130,264,248 (GRCm39) missense possibly damaging 0.46
IGL02729:Pced1a APN 2 130,263,823 (GRCm39) missense probably benign 0.01
IGL03107:Pced1a APN 2 130,264,755 (GRCm39) missense possibly damaging 0.81
R0139:Pced1a UTSW 2 130,263,827 (GRCm39) missense probably benign 0.00
R0550:Pced1a UTSW 2 130,261,553 (GRCm39) missense probably benign 0.00
R0578:Pced1a UTSW 2 130,261,763 (GRCm39) missense probably damaging 0.98
R3037:Pced1a UTSW 2 130,261,779 (GRCm39) missense probably benign 0.40
R3157:Pced1a UTSW 2 130,261,687 (GRCm39) missense probably benign 0.12
R4578:Pced1a UTSW 2 130,264,596 (GRCm39) missense probably damaging 1.00
R5306:Pced1a UTSW 2 130,261,091 (GRCm39) missense probably benign
R6210:Pced1a UTSW 2 130,263,839 (GRCm39) missense probably damaging 1.00
R7444:Pced1a UTSW 2 130,263,979 (GRCm39) missense probably damaging 0.98
R7459:Pced1a UTSW 2 130,261,744 (GRCm39) missense possibly damaging 0.59
R7524:Pced1a UTSW 2 130,263,948 (GRCm39) missense probably benign 0.44
R7744:Pced1a UTSW 2 130,263,972 (GRCm39) missense probably damaging 1.00
R7782:Pced1a UTSW 2 130,264,435 (GRCm39) missense probably damaging 0.99
R7851:Pced1a UTSW 2 130,264,236 (GRCm39) missense probably damaging 0.99
R8300:Pced1a UTSW 2 130,266,157 (GRCm39) unclassified probably benign
R8404:Pced1a UTSW 2 130,265,577 (GRCm39) unclassified probably benign
R8502:Pced1a UTSW 2 130,265,577 (GRCm39) unclassified probably benign
R8990:Pced1a UTSW 2 130,264,471 (GRCm39) missense probably damaging 1.00
R9630:Pced1a UTSW 2 130,261,109 (GRCm39) missense probably benign 0.01
Z1177:Pced1a UTSW 2 130,264,548 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16