Incidental Mutation 'R3845:Cpn1'
ID 277355
Institutional Source Beutler Lab
Gene Symbol Cpn1
Ensembl Gene ENSMUSG00000025196
Gene Name carboxypeptidase N, polypeptide 1
Synonyms CPN, 0610011F20Rik, 50 kDa
MMRRC Submission 040893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3845 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 43944746-43974990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43962523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 142 (P142Q)
Ref Sequence ENSEMBL: ENSMUSP00000026210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026210]
AlphaFold Q9JJN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000026210
AA Change: P142Q

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: P142Q

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Zn_pept 25 428 5.39e-41 SMART
Meta Mutation Damage Score 0.1705 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,669 (GRCm39) N185S probably benign Het
Apool A T X: 111,274,155 (GRCm39) probably benign Het
Atp4a A G 7: 30,416,540 (GRCm39) N439S probably null Het
AU041133 T A 10: 81,987,152 (GRCm39) H268Q probably damaging Het
Ccdc136 C T 6: 29,417,176 (GRCm39) R666W probably benign Het
Ccdc97 T C 7: 25,414,453 (GRCm39) probably benign Het
Celf1 T C 2: 90,839,583 (GRCm39) V336A possibly damaging Het
Chd3 T C 11: 69,237,585 (GRCm39) N1870D possibly damaging Het
Col5a3 C T 9: 20,719,673 (GRCm39) D229N unknown Het
Cubn T C 2: 13,287,819 (GRCm39) D3420G probably damaging Het
Cyp2u1 A G 3: 131,087,135 (GRCm39) F482S possibly damaging Het
Foxo1 T A 3: 52,253,701 (GRCm39) D621E probably benign Het
Grid2 A G 6: 64,322,826 (GRCm39) M609V possibly damaging Het
Hsd17b3 A T 13: 64,236,876 (GRCm39) F23I possibly damaging Het
Kcnk10 A G 12: 98,407,003 (GRCm39) I217T probably benign Het
Mis18bp1 G A 12: 65,195,916 (GRCm39) S616L possibly damaging Het
Mtch1 A T 17: 29,561,806 (GRCm39) F133I probably damaging Het
Myh4 T A 11: 67,149,931 (GRCm39) V1830E possibly damaging Het
Nav3 T C 10: 109,689,237 (GRCm39) M347V possibly damaging Het
Nbea A G 3: 55,993,713 (GRCm39) probably benign Het
Nhej1 A T 1: 75,008,042 (GRCm39) D76E probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or5m12 A C 2: 85,735,081 (GRCm39) C106G probably damaging Het
Pias3 T C 3: 96,609,526 (GRCm39) V307A probably benign Het
Pltp T A 2: 164,696,208 (GRCm39) M135L probably benign Het
Plxna2 A G 1: 194,476,098 (GRCm39) Y1106C probably damaging Het
Pramel26 T C 4: 143,538,545 (GRCm39) E142G probably damaging Het
Ptgir G A 7: 16,641,311 (GRCm39) R201H probably damaging Het
Ptk7 A T 17: 46,897,344 (GRCm39) D329E probably benign Het
Pygl T C 12: 70,245,217 (GRCm39) D411G probably benign Het
Rev1 A T 1: 38,138,069 (GRCm39) M72K probably damaging Het
Sfrp1 T C 8: 23,902,264 (GRCm39) L155P probably damaging Het
Slc5a4a A G 10: 76,024,983 (GRCm39) E620G probably damaging Het
Smarca2 A G 19: 26,698,273 (GRCm39) I1314V probably benign Het
Tas2r109 G A 6: 132,957,766 (GRCm39) L55F probably damaging Het
Tek T A 4: 94,693,109 (GRCm39) C274S probably damaging Het
Tektl1 T C 10: 78,584,532 (GRCm39) N330S probably benign Het
Tent4b A T 8: 88,977,292 (GRCm39) I322F possibly damaging Het
Tmem38b T A 4: 53,859,905 (GRCm39) D228E probably benign Het
Topbp1 T C 9: 103,187,122 (GRCm39) V109A possibly damaging Het
Trbv5 A G 6: 41,039,682 (GRCm39) I96V probably benign Het
Trim16 T G 11: 62,727,498 (GRCm39) probably benign Het
Upf3a A T 8: 13,848,238 (GRCm39) T345S probably benign Het
Usp15 A G 10: 122,955,040 (GRCm39) S913P probably damaging Het
Vmn2r124 T A 17: 18,293,953 (GRCm39) V680D possibly damaging Het
Vmn2r91 G A 17: 18,327,860 (GRCm39) V485I probably benign Het
Zdbf2 A T 1: 63,347,483 (GRCm39) H1954L possibly 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
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
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
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
Predicted Primers PCR Primer
(F):5'- ACGATTTATCAGCTTCTGTTACCG -3'
(R):5'- CGGAAGGTGACAATAATGCCTC -3'

Sequencing Primer
(F):5'- ATCAGCTTCTGTTACCGTTTTCAC -3'
(R):5'- TTGGATGAGAAATCTCCCCCGTAG -3'
Posted On 2015-04-06