Incidental Mutation 'IGL01652:Cpn1'
ID102863
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 #IGL01652
Quality Score
Status
Chromosome19
Chromosomal Location43956307-43986556 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43986094 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 65 (F65L)
Ref Sequence ENSEMBL: ENSMUSP00000026210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026210]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026210
AA Change: F65L

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: F65L

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Zn_pept 25 428 5.39e-41 SMART
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk A T 17: 72,603,531 V60E probably damaging Het
Ank2 T C 3: 126,933,041 K868R probably benign Het
Ankrd13a A T 5: 114,791,336 D158V probably damaging Het
Arhgap12 G T 18: 6,061,853 N380K possibly damaging Het
Dlec1 T A 9: 119,143,907 H1496Q probably benign Het
Dock1 C T 7: 134,777,497 probably benign Het
Dok1 T C 6: 83,032,562 N143D probably damaging Het
Fcmr C T 1: 130,878,507 P363L probably benign Het
Galk2 A G 2: 125,896,765 T171A probably benign Het
Hrh3 G T 2: 180,101,103 P244Q possibly damaging Het
Icam1 T C 9: 21,019,176 Y109H probably damaging Het
Nup93 T C 8: 94,296,559 V132A possibly damaging Het
Olfr1218 A T 2: 89,054,569 Y286N probably damaging Het
Pla2g4f T C 2: 120,302,235 I707V possibly damaging Het
Rpgrip1 G A 14: 52,145,492 probably benign Het
Sbf2 A T 7: 110,447,120 V290E probably damaging Het
Stard3 T G 11: 98,378,733 probably benign Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Trim35 T G 14: 66,308,801 V339G probably damaging Het
Vmn1r80 A G 7: 12,193,136 I58V probably benign Het
Other mutations in Cpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Cpn1 APN 19 43963829 missense probably damaging 0.99
IGL01781:Cpn1 APN 19 43966218 missense possibly damaging 0.93
IGL02675:Cpn1 APN 19 43980930 missense probably benign 0.25
IGL02819:Cpn1 APN 19 43968468 missense probably damaging 1.00
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
Z1177:Cpn1 UTSW 19 43973976 missense probably damaging 1.00
Posted On2014-01-21