Incidental Mutation 'R4049:Pcolce2'
ID 314045
Institutional Source Beutler Lab
Gene Symbol Pcolce2
Ensembl Gene ENSMUSG00000015354
Gene Name procollagen C-endopeptidase enhancer 2
Synonyms 2400001O18Rik, Pcpe2
MMRRC Submission 041616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4049 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 95519681-95577604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95520808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 62 (I62F)
Ref Sequence ENSEMBL: ENSMUSP00000015498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015498]
AlphaFold Q8R4W6
Predicted Effect probably damaging
Transcript: ENSMUST00000015498
AA Change: I62F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: I62F

DomainStartEndE-ValueType
CUB 32 143 1.49e-41 SMART
CUB 153 267 2e-42 SMART
low complexity region 268 293 N/A INTRINSIC
C345C 307 412 4.1e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131619
Meta Mutation Damage Score 0.7026 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (65/65)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable abnormalities in thymus or T cell development. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Targeted(4) Gene trapped(4)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,832,404 (GRCm39) E1190V probably damaging Het
Arhgef10 A G 8: 15,029,998 (GRCm39) T928A probably benign Het
Arhgef10l T A 4: 140,242,762 (GRCm39) I836F probably benign Het
Blm T A 7: 80,152,610 (GRCm39) T446S probably benign Het
Ccdc63 T A 5: 122,260,813 (GRCm39) Q237L probably damaging Het
Ccn5 A G 2: 163,670,904 (GRCm39) D137G probably damaging Het
Cep57l1 G T 10: 41,605,356 (GRCm39) R130S probably damaging Het
Clstn2 T G 9: 97,339,613 (GRCm39) E786A possibly damaging Het
Col16a1 C T 4: 129,962,545 (GRCm39) P540L probably damaging Het
Csf2 A G 11: 54,140,159 (GRCm39) F61L probably damaging Het
Ctr9 C T 7: 110,654,750 (GRCm39) R1094C unknown Het
Cyp3a41a A G 5: 145,650,350 (GRCm39) C98R probably damaging Het
Dthd1 T A 5: 62,984,508 (GRCm39) C404* probably null Het
Egfem1 A C 3: 29,740,880 (GRCm39) H518P probably benign Het
Elf3 T C 1: 135,182,015 (GRCm39) S369G probably benign Het
Eml6 C T 11: 29,788,577 (GRCm39) V503M probably damaging Het
Enthd1 T C 15: 80,444,240 (GRCm39) D105G probably damaging Het
Eral1 A G 11: 77,966,428 (GRCm39) L250P probably damaging Het
Gdf15 A T 8: 71,082,605 (GRCm39) M167K probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gm8074 G A 9: 78,229,618 (GRCm39) noncoding transcript Het
Herc3 A G 6: 58,853,822 (GRCm39) I623V probably damaging Het
Mad1l1 A G 5: 140,118,571 (GRCm39) S457P probably damaging Het
Map1lc3a G T 2: 155,119,462 (GRCm39) V91F possibly damaging Het
Map4k3 A G 17: 80,913,394 (GRCm39) V617A probably benign Het
Mov10l1 T A 15: 88,879,235 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Ncor1 G T 11: 62,220,494 (GRCm39) probably null Het
Nfe2 C T 15: 103,159,364 (GRCm39) E36K possibly damaging Het
Oprm1 G A 10: 6,779,087 (GRCm39) V95I probably benign Het
Or4a78 T C 2: 89,498,006 (GRCm39) I75V probably benign Het
Or4c107 A G 2: 88,789,617 (GRCm39) K269R probably benign Het
Or52d3 T C 7: 104,229,575 (GRCm39) F241L probably benign Het
Or5d46 T C 2: 88,174,144 (GRCm39) probably null Het
Pcdha9 T A 18: 37,130,995 (GRCm39) H21Q probably benign Het
Pfpl T A 19: 12,407,053 (GRCm39) C435S probably damaging Het
Pkhd1l1 G A 15: 44,361,953 (GRCm39) C542Y probably damaging Het
Plekha5 T C 6: 140,529,597 (GRCm39) S75P probably damaging Het
Pphln1 C A 15: 93,362,987 (GRCm39) A202E probably damaging Het
Ppp1r1a A G 15: 103,440,881 (GRCm39) L92P probably damaging Het
Prokr2 T C 2: 132,223,414 (GRCm39) T43A probably benign Het
Rai14 T C 15: 10,592,298 (GRCm39) N199S probably benign Het
Rasgrp2 T C 19: 6,454,757 (GRCm39) L199P probably damaging Het
Rnf213 A C 11: 119,373,274 (GRCm39) M4939L possibly damaging Het
Slc23a2 C T 2: 131,902,603 (GRCm39) R533Q probably benign Het
Slc7a7 T C 14: 54,610,548 (GRCm39) probably null Het
Snrpd2 T A 7: 18,885,232 (GRCm39) V31E probably damaging Het
Spire1 G T 18: 67,662,101 (GRCm39) probably null Het
Srsf4 T C 4: 131,627,854 (GRCm39) probably benign Het
Tcf20 A G 15: 82,737,630 (GRCm39) S1274P probably damaging Het
Tcof1 C A 18: 60,965,975 (GRCm39) A376S possibly damaging Het
Thsd1 T A 8: 22,733,180 (GRCm39) Y76N possibly damaging Het
Timm44 A G 8: 4,310,561 (GRCm39) V397A probably benign Het
Tmc6 G A 11: 117,669,087 (GRCm39) T89I possibly damaging Het
Trbv31 C A 6: 41,534,639 (GRCm39) C107F probably damaging Het
Trim37 T A 11: 87,031,429 (GRCm39) probably null Het
Ttll5 T C 12: 86,059,573 (GRCm39) V1226A probably benign Het
Ube3b T C 5: 114,550,931 (GRCm39) V865A probably benign Het
Vmn2r86 A T 10: 130,282,966 (GRCm39) M550K probably damaging Het
Vps54 C A 11: 21,250,183 (GRCm39) T373N probably benign Het
Wdr64 T G 1: 175,633,422 (GRCm39) I891S probably benign Het
Zfhx4 C T 3: 5,463,919 (GRCm39) S1384L probably damaging Het
Zfp703 A G 8: 27,469,113 (GRCm39) E259G possibly damaging Het
Zfp933 T C 4: 147,910,969 (GRCm39) H209R probably damaging Het
Zfp980 A G 4: 145,429,170 (GRCm39) H633R probably damaging Het
Other mutations in Pcolce2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Pcolce2 APN 9 95,574,976 (GRCm39) missense probably damaging 0.98
IGL03339:Pcolce2 APN 9 95,560,393 (GRCm39) splice site probably benign
R0019:Pcolce2 UTSW 9 95,577,017 (GRCm39) critical splice acceptor site probably null
R0019:Pcolce2 UTSW 9 95,577,017 (GRCm39) critical splice acceptor site probably null
R0570:Pcolce2 UTSW 9 95,520,710 (GRCm39) missense probably benign 0.00
R0962:Pcolce2 UTSW 9 95,552,087 (GRCm39) missense probably benign 0.04
R0989:Pcolce2 UTSW 9 95,520,776 (GRCm39) missense probably benign 0.00
R1171:Pcolce2 UTSW 9 95,576,793 (GRCm39) missense probably benign 0.01
R1840:Pcolce2 UTSW 9 95,552,256 (GRCm39) missense probably benign 0.16
R1840:Pcolce2 UTSW 9 95,552,170 (GRCm39) missense probably damaging 0.98
R1997:Pcolce2 UTSW 9 95,576,793 (GRCm39) missense probably benign 0.01
R2061:Pcolce2 UTSW 9 95,552,229 (GRCm39) missense probably benign 0.04
R2196:Pcolce2 UTSW 9 95,576,742 (GRCm39) missense probably damaging 0.98
R2287:Pcolce2 UTSW 9 95,560,458 (GRCm39) nonsense probably null
R2922:Pcolce2 UTSW 9 95,576,767 (GRCm39) missense probably damaging 1.00
R4432:Pcolce2 UTSW 9 95,563,610 (GRCm39) missense probably damaging 0.99
R4639:Pcolce2 UTSW 9 95,519,930 (GRCm39) splice site probably null
R6288:Pcolce2 UTSW 9 95,563,646 (GRCm39) missense probably damaging 0.96
R6625:Pcolce2 UTSW 9 95,560,492 (GRCm39) nonsense probably null
R6883:Pcolce2 UTSW 9 95,560,396 (GRCm39) critical splice acceptor site probably null
R7023:Pcolce2 UTSW 9 95,560,521 (GRCm39) missense probably benign 0.19
R7066:Pcolce2 UTSW 9 95,563,674 (GRCm39) missense probably benign
R7949:Pcolce2 UTSW 9 95,576,688 (GRCm39) missense probably benign 0.11
R8325:Pcolce2 UTSW 9 95,574,973 (GRCm39) missense probably damaging 1.00
R8369:Pcolce2 UTSW 9 95,519,847 (GRCm39) start codon destroyed probably benign
R8510:Pcolce2 UTSW 9 95,563,700 (GRCm39) missense probably damaging 0.98
R8844:Pcolce2 UTSW 9 95,563,625 (GRCm39) missense possibly damaging 0.58
R9234:Pcolce2 UTSW 9 95,560,439 (GRCm39) missense probably benign 0.05
R9485:Pcolce2 UTSW 9 95,520,720 (GRCm39) nonsense probably null
R9775:Pcolce2 UTSW 9 95,520,797 (GRCm39) missense probably damaging 1.00
Z1176:Pcolce2 UTSW 9 95,519,889 (GRCm39) missense possibly damaging 0.83
Z1177:Pcolce2 UTSW 9 95,560,478 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TCACTCGTTTATATCAGCACGTATG -3'
(R):5'- TCAACCATCATCTTGAGCCC -3'

Sequencing Primer
(F):5'- GCACGTATGCCTTTTTGGAATTAAC -3'
(R):5'- TAATCGCTATTGCAGGACATCC -3'
Posted On 2015-04-30