Incidental Mutation 'IGL01373:Cpxm1'
ID 84087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpxm1
Ensembl Gene ENSMUSG00000027408
Gene Name carboxypeptidase X, M14 family member 1
Synonyms Cpx-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # IGL01373
Quality Score
Status
Chromosome 2
Chromosomal Location 130232695-130239494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130236055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 369 (E369G)
Ref Sequence ENSEMBL: ENSMUSP00000028897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028897]
AlphaFold Q9Z100
Predicted Effect probably damaging
Transcript: ENSMUST00000028897
AA Change: E369G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028897
Gene: ENSMUSG00000027408
AA Change: E369G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 56 75 N/A INTRINSIC
FA58C 104 263 1.44e-28 SMART
Zn_pept 410 699 5.77e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130533
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Cpxm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Cpxm1 APN 2 130,237,863 (GRCm39) missense probably damaging 1.00
IGL01327:Cpxm1 APN 2 130,238,277 (GRCm39) missense probably benign 0.00
IGL01622:Cpxm1 APN 2 130,233,191 (GRCm39) missense probably benign 0.00
IGL01623:Cpxm1 APN 2 130,233,191 (GRCm39) missense probably benign 0.00
IGL01981:Cpxm1 APN 2 130,236,060 (GRCm39) nonsense probably null
IGL02031:Cpxm1 APN 2 130,235,601 (GRCm39) missense probably damaging 1.00
IGL02369:Cpxm1 APN 2 130,238,344 (GRCm39) missense probably damaging 1.00
IGL03057:Cpxm1 APN 2 130,235,109 (GRCm39) missense probably damaging 1.00
BB007:Cpxm1 UTSW 2 130,236,982 (GRCm39) missense possibly damaging 0.95
BB017:Cpxm1 UTSW 2 130,236,982 (GRCm39) missense possibly damaging 0.95
R0316:Cpxm1 UTSW 2 130,235,091 (GRCm39) missense probably damaging 1.00
R0544:Cpxm1 UTSW 2 130,235,055 (GRCm39) missense probably damaging 1.00
R0726:Cpxm1 UTSW 2 130,232,859 (GRCm39) missense probably damaging 0.96
R0944:Cpxm1 UTSW 2 130,239,423 (GRCm39) missense probably damaging 1.00
R1334:Cpxm1 UTSW 2 130,235,483 (GRCm39) missense probably damaging 0.99
R1366:Cpxm1 UTSW 2 130,238,042 (GRCm39) missense probably damaging 1.00
R1429:Cpxm1 UTSW 2 130,238,364 (GRCm39) missense probably damaging 0.98
R1654:Cpxm1 UTSW 2 130,235,466 (GRCm39) missense possibly damaging 0.51
R1824:Cpxm1 UTSW 2 130,237,617 (GRCm39) missense probably damaging 0.99
R2144:Cpxm1 UTSW 2 130,239,330 (GRCm39) missense probably benign 0.00
R2200:Cpxm1 UTSW 2 130,235,117 (GRCm39) missense probably damaging 1.00
R2320:Cpxm1 UTSW 2 130,236,131 (GRCm39) missense probably damaging 1.00
R2434:Cpxm1 UTSW 2 130,236,004 (GRCm39) missense probably damaging 1.00
R3118:Cpxm1 UTSW 2 130,235,493 (GRCm39) missense possibly damaging 0.80
R4601:Cpxm1 UTSW 2 130,235,496 (GRCm39) missense possibly damaging 0.83
R5020:Cpxm1 UTSW 2 130,237,897 (GRCm39) splice site probably null
R5041:Cpxm1 UTSW 2 130,235,990 (GRCm39) missense probably damaging 1.00
R5727:Cpxm1 UTSW 2 130,232,883 (GRCm39) nonsense probably null
R5806:Cpxm1 UTSW 2 130,239,393 (GRCm39) missense probably damaging 1.00
R6660:Cpxm1 UTSW 2 130,238,069 (GRCm39) missense probably damaging 1.00
R7431:Cpxm1 UTSW 2 130,235,966 (GRCm39) missense probably benign 0.00
R7491:Cpxm1 UTSW 2 130,235,487 (GRCm39) missense probably benign 0.22
R7743:Cpxm1 UTSW 2 130,235,342 (GRCm39) missense probably benign 0.01
R7930:Cpxm1 UTSW 2 130,236,982 (GRCm39) missense possibly damaging 0.95
R8375:Cpxm1 UTSW 2 130,236,146 (GRCm39) missense probably damaging 1.00
R8783:Cpxm1 UTSW 2 130,237,643 (GRCm39) missense probably benign 0.01
R8900:Cpxm1 UTSW 2 130,235,360 (GRCm39) missense probably damaging 1.00
R9738:Cpxm1 UTSW 2 130,235,302 (GRCm39) critical splice donor site probably null
Posted On 2013-11-11