Incidental Mutation 'IGL02819:Cpn1'
ID 360925
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 # IGL02819
Quality Score
Chromosome 19
Chromosomal Location 43944746-43974990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43956907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 286 (Y286H)
Ref Sequence ENSEMBL: ENSMUSP00000026210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026210]
AlphaFold Q9JJN5
Predicted Effect probably damaging
Transcript: ENSMUST00000026210
AA Change: Y286H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: Y286H

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign 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
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
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 2015-12-18