Incidental Mutation 'IGL01400:Cpm'
ID79621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpm
Ensembl Gene ENSMUSG00000020183
Gene Namecarboxypeptidase M
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL01400
Quality Score
Status
Chromosome10
Chromosomal Location117629500-117687352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 117659775 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 56 (N56K)
Ref Sequence ENSEMBL: ENSMUSP00000020399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020399]
Predicted Effect probably benign
Transcript: ENSMUST00000020399
AA Change: N56K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020399
Gene: ENSMUSG00000020183
AA Change: N56K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Zn_pept 22 406 2.03e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178844
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 membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,101 I133N probably damaging Het
Abl2 T G 1: 156,635,184 C510G probably damaging Het
Ambp T C 4: 63,152,722 Y40C probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Arfgef3 G A 10: 18,652,706 A311V probably damaging Het
Cass4 A G 2: 172,427,300 D434G probably damaging Het
Cep250 A C 2: 155,998,291 T2390P possibly damaging Het
Cspp1 T C 1: 10,085,931 L455P probably damaging Het
Dcx T C X: 143,931,154 K51E possibly damaging Het
Ehd3 T C 17: 73,828,094 F322L probably benign Het
Ell A G 8: 70,578,913 D87G probably damaging Het
Epor C T 9: 21,959,439 probably null Het
Exosc10 T G 4: 148,565,271 M386R probably damaging Het
Gm1966 T A 7: 106,602,035 E667D probably benign Het
Gpr152 T C 19: 4,143,627 I389T probably benign Het
Kmo T A 1: 175,655,095 D328E possibly damaging Het
Llgl1 A G 11: 60,706,490 H255R probably damaging Het
Lrch3 T A 16: 32,979,541 H416Q probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mdm1 T G 10: 118,157,251 H320Q probably damaging Het
Nol4 T A 18: 22,823,498 H209L probably damaging Het
Olfr482 A T 7: 108,094,839 C244S probably damaging Het
Pcdhac2 T C 18: 37,146,286 V773A possibly damaging Het
Pde3a A G 6: 141,459,228 N393S probably benign Het
Pik3r5 A G 11: 68,494,547 K700R probably benign Het
Prob1 G A 18: 35,653,333 R623C possibly damaging Het
Slc14a2 T C 18: 78,192,213 N112D probably damaging Het
Snapc3 C T 4: 83,450,177 P304S probably damaging Het
Spin2c T A X: 153,833,625 W145R probably damaging Het
Tmem131l T C 3: 83,922,122 E1075G probably damaging Het
Trip12 C T 1: 84,751,978 R995Q probably damaging Het
Trpm6 T A 19: 18,825,794 L867* probably null Het
Vmn1r87 T G 7: 13,132,303 H19P probably damaging Het
Vps16 A G 2: 130,438,353 E139G possibly damaging Het
Other mutations in Cpm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Cpm APN 10 117676066 missense probably damaging 1.00
IGL02655:Cpm APN 10 117683281 missense probably benign 0.01
IGL02724:Cpm APN 10 117629851 missense probably damaging 1.00
IGL03144:Cpm APN 10 117683414 missense probably benign 0.03
R0898:Cpm UTSW 10 117676106 splice site probably benign
R2179:Cpm UTSW 10 117683361 missense probably benign 0.24
R2213:Cpm UTSW 10 117659839 missense probably damaging 1.00
R4622:Cpm UTSW 10 117670297 missense possibly damaging 0.91
R4623:Cpm UTSW 10 117670297 missense possibly damaging 0.91
R4658:Cpm UTSW 10 117668051 missense probably benign 0.43
R4714:Cpm UTSW 10 117675985 missense probably damaging 0.97
R4991:Cpm UTSW 10 117668103 missense probably damaging 1.00
R5430:Cpm UTSW 10 117676081 missense possibly damaging 0.92
R5765:Cpm UTSW 10 117671733 missense probably benign 0.09
R6757:Cpm UTSW 10 117671638 missense probably damaging 1.00
R6803:Cpm UTSW 10 117676097 splice site probably null
R7509:Cpm UTSW 10 117659840 missense probably damaging 1.00
R7761:Cpm UTSW 10 117683435 missense possibly damaging 0.64
Posted On2013-11-05