|Institutional Source||Beutler Lab|
|Gene Name||carboxypeptidase N, polypeptide 1|
|Synonyms||CPN, 0610011F20Rik, 50 kDa|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6781 (G1)|
|Chromosomal Location||43956307-43986556 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 43980904 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 107 (F107L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026210 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026210]|
|Predicted Effect||possibly damaging
AA Change: F107L
PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: F107L
|Meta Mutation Damage Score||0.4510|
|Coding Region Coverage||
|Validation Efficiency||98% (45/46)|
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||
|Other mutations in Cpn1||
(F):5'- CACTGTAGGCTGGCACTCATTTC -3'
(R):5'- TCAGGGATGGTTGGACACAG -3'
(F):5'- GCTGGCACTCATTTCATAAGATGGC -3'
(R):5'- CAAGATCTTGTGAGTCCCAGG -3'