Incidental Mutation 'R5455:Pced1b'
ID 432733
Institutional Source Beutler Lab
Gene Symbol Pced1b
Ensembl Gene ENSMUSG00000044250
Gene Name PC-esterase domain containing 1B
Synonyms Fam113b
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R5455 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 97144988-97283561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97282274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 104 (S104R)
Ref Sequence ENSEMBL: ENSMUSP00000154814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059433] [ENSMUST00000226495] [ENSMUST00000228521]
AlphaFold Q8BGX1
Predicted Effect probably benign
Transcript: ENSMUST00000059433
AA Change: S104R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000055485
Gene: ENSMUSG00000044250
AA Change: S104R

DomainStartEndE-ValueType
Pfam:PC-Esterase 1 254 5.1e-53 PFAM
low complexity region 295 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226495
Predicted Effect probably benign
Transcript: ENSMUST00000228521
AA Change: S104R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T A 17: 43,632,034 (GRCm39) probably null Het
Ascc3 T C 10: 50,725,679 (GRCm39) V2134A probably benign Het
Cct6b T G 11: 82,645,943 (GRCm39) I80L probably benign Het
Cfap20dc A T 14: 8,536,516 (GRCm38) probably null Het
Crebbp C A 16: 3,903,831 (GRCm39) V1765L probably benign Het
Cul9 C T 17: 46,821,772 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,792,236 (GRCm39) I236T possibly damaging Het
Dbndd2 C A 2: 164,332,113 (GRCm39) T112K possibly damaging Het
Dmrtc2 A C 7: 24,571,916 (GRCm39) S4R probably benign Het
Dnah6 C T 6: 73,052,717 (GRCm39) V2988I probably benign Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Ercc3 T C 18: 32,400,262 (GRCm39) S705P possibly damaging Het
Gm10306 T G 4: 94,445,077 (GRCm39) probably benign Het
H2-Q6 T C 17: 35,643,860 (GRCm39) L3P unknown Het
Kcnn4 T C 7: 24,076,978 (GRCm39) S176P probably damaging Het
Maml2 T A 9: 13,617,039 (GRCm39) Y128* probably null Het
Map2 G A 1: 66,438,550 (GRCm39) E25K probably damaging Het
Morc2b T A 17: 33,357,584 (GRCm39) M63L probably benign Het
Mthfd1 A G 12: 76,348,062 (GRCm39) I569V probably benign Het
Myh8 G A 11: 67,192,244 (GRCm39) R1399H possibly damaging Het
Nop2 T C 6: 125,117,606 (GRCm39) I424T probably benign Het
Olfm5 T C 7: 103,803,669 (GRCm39) R265G probably damaging Het
Opalin T C 19: 41,058,392 (GRCm39) T14A probably benign Het
Or10j7 A G 1: 173,011,818 (GRCm39) F61S probably damaging Het
Or7a36 C T 10: 78,820,371 (GRCm39) S249F possibly damaging Het
Pdia2 T G 17: 26,416,137 (GRCm39) Q310P probably null Het
Ppil6 A G 10: 41,374,541 (GRCm39) T141A probably benign Het
Prrc2b A G 2: 32,111,355 (GRCm39) probably null Het
Stxbp5 A G 10: 9,684,252 (GRCm39) S573P probably benign Het
Synpo2l C A 14: 20,712,360 (GRCm39) A87S probably damaging Het
Tor1b GGACG GG 2: 30,846,957 (GRCm39) probably benign Het
Vmn1r89 A T 7: 12,954,194 (GRCm39) H121L probably benign Het
Vmn2r99 T A 17: 19,614,408 (GRCm39) C709* probably null Het
Vstm4 A G 14: 32,585,835 (GRCm39) H134R possibly damaging Het
Zan C T 5: 137,452,262 (GRCm39) C1569Y unknown Het
Zdhhc13 A G 7: 48,455,323 (GRCm39) T122A possibly damaging Het
Zpbp2 G T 11: 98,448,429 (GRCm39) V249L probably benign Het
Other mutations in Pced1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1661:Pced1b UTSW 15 97,282,594 (GRCm39) missense probably benign 0.01
R1699:Pced1b UTSW 15 97,282,758 (GRCm39) missense probably damaging 1.00
R2115:Pced1b UTSW 15 97,282,505 (GRCm39) nonsense probably null
R2441:Pced1b UTSW 15 97,282,166 (GRCm39) missense possibly damaging 0.60
R3154:Pced1b UTSW 15 97,282,423 (GRCm39) splice site probably null
R3907:Pced1b UTSW 15 97,282,431 (GRCm39) missense probably damaging 1.00
R4712:Pced1b UTSW 15 97,282,675 (GRCm39) missense probably benign 0.03
R5902:Pced1b UTSW 15 97,282,970 (GRCm39) nonsense probably null
R5936:Pced1b UTSW 15 97,283,063 (GRCm39) nonsense probably null
R5936:Pced1b UTSW 15 97,283,061 (GRCm39) missense possibly damaging 0.59
R5988:Pced1b UTSW 15 97,282,228 (GRCm39) missense probably damaging 1.00
R6525:Pced1b UTSW 15 97,282,679 (GRCm39) missense possibly damaging 0.91
R6868:Pced1b UTSW 15 97,282,222 (GRCm39) missense probably damaging 1.00
R7128:Pced1b UTSW 15 97,282,479 (GRCm39) nonsense probably null
R9582:Pced1b UTSW 15 97,282,450 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGATTGCCTGCTCACTAAC -3'
(R):5'- TCTTGTCACCCAAAGGCATAGC -3'

Sequencing Primer
(F):5'- TGCTCACTAACAAGCAGCTCAGG -3'
(R):5'- AGGCATAGCAGTGTTCCAC -3'
Posted On 2016-10-06