Incidental Mutation 'IGL01781:Cpn1'
ID 153919
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 # IGL01781
Quality Score
Status
Chromosome 19
Chromosomal Location 43944746-43974990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43954657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 323 (E323V)
Ref Sequence ENSEMBL: ENSMUSP00000026210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026210]
AlphaFold Q9JJN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000026210
AA Change: E323V

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: E323V

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,280 (GRCm39) I3618N probably damaging Het
Acss1 A G 2: 150,479,792 (GRCm39) L305P probably damaging Het
Alox12e A T 11: 70,212,282 (GRCm39) L132Q probably damaging Het
Atp6v0a4 T C 6: 38,051,095 (GRCm39) N428D possibly damaging Het
Ccdc80 C T 16: 44,946,493 (GRCm39) H811Y probably damaging Het
Cgn T C 3: 94,680,515 (GRCm39) M596V probably benign Het
Cul9 A G 17: 46,850,230 (GRCm39) S447P probably benign Het
Cyp2f2 A T 7: 26,829,846 (GRCm39) Y182F probably benign Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Eri3 T C 4: 117,421,874 (GRCm39) F51L probably benign Het
Fgd5 A G 6: 91,965,698 (GRCm39) S486G possibly damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Ifna4 T C 4: 88,760,389 (GRCm39) S98P probably damaging Het
Impg2 A G 16: 56,072,588 (GRCm39) K340R probably benign Het
Man2b2 T C 5: 36,971,089 (GRCm39) N759S possibly damaging Het
Mfsd1 A G 3: 67,495,244 (GRCm39) probably benign Het
Or2d36 T A 7: 106,746,903 (GRCm39) C127S probably damaging Het
Pdcd6ip G T 9: 113,520,566 (GRCm39) N139K probably damaging Het
Peak1 A T 9: 56,167,349 (GRCm39) I193N possibly damaging Het
Pip4p2 T C 4: 14,893,566 (GRCm39) L143S probably damaging Het
Pramel28 C A 4: 143,692,299 (GRCm39) C234F probably benign Het
Psg27 T A 7: 18,298,989 (GRCm39) T111S probably damaging Het
Ptprs G A 17: 56,742,676 (GRCm39) L489F probably damaging Het
Rpgrip1l A G 8: 91,996,846 (GRCm39) V76A probably benign Het
Scd1 A T 19: 44,388,787 (GRCm39) M221K possibly damaging Het
Slc38a7 A G 8: 96,570,386 (GRCm39) probably null Het
Spon2 T C 5: 33,372,904 (GRCm39) D266G probably benign Het
Spry4 C T 18: 38,723,478 (GRCm39) G95D probably damaging Het
Supt20 A G 3: 54,602,626 (GRCm39) M1V probably null Het
Trappc11 A C 8: 47,967,163 (GRCm39) F404V possibly damaging Het
Vmn1r178 C A 7: 23,593,434 (GRCm39) Q161K probably damaging Het
Vmn2r25 T C 6: 123,816,324 (GRCm39) E419G possibly damaging Het
Vstm5 A G 9: 15,168,968 (GRCm39) H146R probably damaging Het
Other mutations in Cpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Cpn1 APN 19 43,952,268 (GRCm39) missense probably damaging 0.99
IGL01652:Cpn1 APN 19 43,974,533 (GRCm39) missense possibly damaging 0.80
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 2014-02-04