Incidental Mutation 'IGL02819:Cpn1'
ID360925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpn1
Ensembl Gene ENSMUSG00000025196
Gene Namecarboxypeptidase N, polypeptide 1
SynonymsCPN, 0610011F20Rik, 50 kDa
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02819
Quality Score
Status
Chromosome19
Chromosomal Location43956307-43986556 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43968468 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 286 (Y286H)
Ref Sequence ENSEMBL: ENSMUSP00000026210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026210]
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

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,564,220 probably benign Het
Abcb8 T A 5: 24,406,424 N470K probably benign Het
Adamtsl3 A T 7: 82,574,121 N1037Y probably damaging Het
Adcy3 T C 12: 4,206,986 probably benign Het
Ankrd35 A G 3: 96,690,208 D983G possibly damaging Het
Asf1a A G 10: 53,607,824 T118A probably benign Het
Atp2a3 T C 11: 72,977,207 Y389H probably damaging Het
Atp5b T C 10: 128,083,952 I63T probably damaging Het
C2cd5 A G 6: 143,083,220 Y98H probably benign Het
Caprin2 A G 6: 148,848,258 V518A probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clcn2 C A 16: 20,709,256 E487* probably null Het
Cog6 T A 3: 53,009,545 K184M probably damaging Het
Cpne9 A T 6: 113,300,663 S448C probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Cys1 T C 12: 24,667,170 E132G possibly damaging Het
Depdc7 T C 2: 104,724,726 M280V probably benign Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Golga1 T A 2: 39,039,078 N318Y probably null Het
Hsd3b6 A G 3: 98,810,946 V34A probably benign Het
Krt9 A G 11: 100,191,520 I193T probably damaging Het
Lama4 A T 10: 39,026,569 I180F possibly damaging Het
Lamc1 T C 1: 153,250,661 T458A probably damaging Het
Lin28b A T 10: 45,470,059 M1K probably null Het
Myo16 T C 8: 10,322,600 C100R probably damaging Het
Nt5c3 A T 6: 56,883,733 M279K probably damaging Het
Ppfia2 A G 10: 106,906,394 Y1016C probably damaging Het
Rpl6 A G 5: 121,207,201 probably benign Het
Rpn2 G T 2: 157,316,210 probably null Het
Rspry1 T C 8: 94,654,256 V396A probably benign Het
Serpina3i C T 12: 104,268,502 T364I probably damaging Het
Shprh A G 10: 11,154,765 K242R possibly damaging Het
Slit3 A G 11: 35,171,590 N72S possibly damaging Het
Syt17 G A 7: 118,409,920 probably benign Het
Tatdn3 C A 1: 191,055,344 A114S probably benign Het
Tjp2 A G 19: 24,114,105 V564A probably damaging Het
Tmem117 T C 15: 94,879,372 probably benign Het
Tnfrsf8 T C 4: 145,269,133 E452G probably damaging Het
Tns1 T C 1: 73,937,248 D1147G probably damaging Het
Traf6 T C 2: 101,684,789 S97P probably damaging Het
Ttc28 A T 5: 111,266,583 E1321D probably benign Het
Other mutations in Cpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Cpn1 APN 19 43963829 missense probably damaging 0.99
IGL01652:Cpn1 APN 19 43986094 missense possibly damaging 0.80
IGL01781:Cpn1 APN 19 43966218 missense possibly damaging 0.93
IGL02675:Cpn1 APN 19 43980930 missense probably benign 0.25
IGL03135:Cpn1 APN 19 43986254 missense possibly damaging 0.96
R1946:Cpn1 UTSW 19 43956518 missense probably benign
R3845:Cpn1 UTSW 19 43974084 missense possibly damaging 0.82
R4133:Cpn1 UTSW 19 43986284 missense possibly damaging 0.93
R5114:Cpn1 UTSW 19 43986195 missense probably damaging 0.98
R5874:Cpn1 UTSW 19 43956512 missense probably benign
R5922:Cpn1 UTSW 19 43986093 missense probably damaging 1.00
R6643:Cpn1 UTSW 19 43960033 missense probably benign 0.16
R6781:Cpn1 UTSW 19 43980904 missense possibly damaging 0.51
R7171:Cpn1 UTSW 19 43974031 missense probably damaging 0.99
R7843:Cpn1 UTSW 19 43986158 missense probably benign 0.01
R8770:Cpn1 UTSW 19 43963769 missense probably damaging 1.00
R8798:Cpn1 UTSW 19 43986236 missense possibly damaging 0.84
R8884:Cpn1 UTSW 19 43966176 missense possibly damaging 0.80
Z1177:Cpn1 UTSW 19 43973976 missense probably damaging 1.00
Posted On2015-12-18