Incidental Mutation 'IGL03339:Pcolce2'
ID 417165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcolce2
Ensembl Gene ENSMUSG00000015354
Gene Name procollagen C-endopeptidase enhancer 2
Synonyms 2400001O18Rik, Pcpe2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03339
Quality Score
Status
Chromosome 9
Chromosomal Location 95519681-95577604 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 95560393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015498]
AlphaFold Q8R4W6
Predicted Effect probably benign
Transcript: ENSMUST00000015498
SMART Domains Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354

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: ENSMUST00000151210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188629
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in Pcolce2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Pcolce2 APN 9 95,574,976 (GRCm39) missense probably damaging 0.98
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
R4049:Pcolce2 UTSW 9 95,520,808 (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
Posted On 2016-08-02