Incidental Mutation 'IGL00572:Cpn1'
ID 3175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpn1
Ensembl Gene ENSMUSG00000025196
Gene Name carboxypeptidase N, polypeptide 1
Synonyms CPN, 0610011F20Rik, 50 kDa
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00572
Quality Score
Status
Chromosome 19
Chromosomal Location 43944746-43974990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43952268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 338 (V338A)
Ref Sequence ENSEMBL: ENSMUSP00000026210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026210]
AlphaFold Q9JJN5
Predicted Effect probably damaging
Transcript: ENSMUST00000026210
AA Change: V338A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: V338A

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Zn_pept 25 428 5.39e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131882
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly susceptible to lethal anaphylactic shock caused by acute complement activation when administered cobra venom factor or C5a complement. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 56,127,648 (GRCm39) I563V probably benign Het
Adgrl2 A G 3: 148,532,134 (GRCm39) L1033P probably damaging Het
Aqr A C 2: 113,956,423 (GRCm39) I840M possibly damaging Het
Bmper G A 9: 23,317,823 (GRCm39) V481M probably damaging Het
Chd8 T C 14: 52,463,595 (GRCm39) E683G probably damaging Het
Cs A G 10: 128,196,833 (GRCm39) probably benign Het
Gm4540 C T 3: 105,942,123 (GRCm39) probably benign Het
Hdc A G 2: 126,443,792 (GRCm39) F296L probably benign Het
Helt T C 8: 46,746,559 (GRCm39) E32G probably damaging Het
Hivep1 C T 13: 42,312,347 (GRCm39) A1529V probably benign Het
Klk1b4 A T 7: 43,860,198 (GRCm39) H104L possibly damaging Het
Lrrc37 A G 11: 103,506,236 (GRCm39) F1911L probably benign Het
Ncf2 C A 1: 152,683,925 (GRCm39) T48N possibly damaging Het
Phkg1 G A 5: 129,893,914 (GRCm39) Q274* probably null Het
Slc1a2 A G 2: 102,607,921 (GRCm39) D520G possibly damaging Het
Slc25a10 G T 11: 120,387,933 (GRCm39) probably null Het
Slc8a1 A T 17: 81,696,155 (GRCm39) S960T probably damaging Het
Sp140 G A 1: 85,549,393 (GRCm39) R208K probably benign Het
St7 A G 6: 17,855,005 (GRCm39) E245G probably damaging Het
Sypl1 T A 12: 33,004,293 (GRCm39) S2T probably damaging Het
Tbx20 T C 9: 24,636,984 (GRCm39) T368A probably benign Het
Tmem126a T C 7: 90,100,040 (GRCm39) T168A probably benign Het
Ttn T C 2: 76,576,934 (GRCm39) D24653G probably damaging Het
Ttn A G 2: 76,777,323 (GRCm39) S1360P probably damaging Het
Uggt2 A T 14: 119,280,203 (GRCm39) F282L probably benign Het
Usp36 A T 11: 118,155,646 (GRCm39) N875K possibly damaging Het
Usp9x C A X: 12,991,815 (GRCm39) H869N probably benign Het
Xpnpep1 T C 19: 52,998,579 (GRCm39) E223G probably benign Het
Zfp729a G A 13: 67,767,440 (GRCm39) P930S probably benign Het
Zscan10 G A 17: 23,828,435 (GRCm39) V216M probably damaging Het
Other mutations in Cpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Cpn1 APN 19 43,974,533 (GRCm39) missense possibly damaging 0.80
IGL01781:Cpn1 APN 19 43,954,657 (GRCm39) missense possibly damaging 0.93
IGL02675:Cpn1 APN 19 43,969,369 (GRCm39) missense probably benign 0.25
IGL02819:Cpn1 APN 19 43,956,907 (GRCm39) missense probably damaging 1.00
IGL03135:Cpn1 APN 19 43,974,693 (GRCm39) missense possibly damaging 0.96
Beloved UTSW 19 43,952,208 (GRCm39) missense probably damaging 1.00
Granddaughter UTSW 19 43,974,675 (GRCm39) missense possibly damaging 0.84
R1946:Cpn1 UTSW 19 43,944,957 (GRCm39) missense probably benign
R3845:Cpn1 UTSW 19 43,962,523 (GRCm39) missense possibly damaging 0.82
R4133:Cpn1 UTSW 19 43,974,723 (GRCm39) missense possibly damaging 0.93
R5114:Cpn1 UTSW 19 43,974,634 (GRCm39) missense probably damaging 0.98
R5874:Cpn1 UTSW 19 43,944,951 (GRCm39) missense probably benign
R5922:Cpn1 UTSW 19 43,974,532 (GRCm39) missense probably damaging 1.00
R6643:Cpn1 UTSW 19 43,948,472 (GRCm39) missense probably benign 0.16
R6781:Cpn1 UTSW 19 43,969,343 (GRCm39) missense possibly damaging 0.51
R7171:Cpn1 UTSW 19 43,962,470 (GRCm39) missense probably damaging 0.99
R7843:Cpn1 UTSW 19 43,974,597 (GRCm39) missense probably benign 0.01
R8770:Cpn1 UTSW 19 43,952,208 (GRCm39) missense probably damaging 1.00
R8798:Cpn1 UTSW 19 43,974,675 (GRCm39) missense possibly damaging 0.84
R8884:Cpn1 UTSW 19 43,954,615 (GRCm39) missense possibly damaging 0.80
R9265:Cpn1 UTSW 19 43,958,599 (GRCm39) missense probably damaging 0.97
Z1177:Cpn1 UTSW 19 43,962,415 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20