Incidental Mutation 'IGL02675:Cpn1'
ID303102
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 #IGL02675
Quality Score
Status
Chromosome19
Chromosomal Location43956307-43986556 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43980930 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 98 (Q98R)
Ref Sequence ENSEMBL: ENSMUSP00000026210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026210]
Predicted Effect probably benign
Transcript: ENSMUST00000026210
AA Change: Q98R

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: Q98R

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,483,540 I204T probably damaging Het
Anxa8 A G 14: 34,093,414 D150G probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Hoxd8 T G 2: 74,706,586 L214R probably damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Kifc2 C T 15: 76,662,979 R252W probably damaging Het
Meox2 A G 12: 37,178,334 D290G probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Myh9 T C 15: 77,788,930 T406A possibly damaging Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pdcd10 G A 3: 75,527,594 T130I probably damaging Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmem19 A G 10: 115,342,573 L281P probably damaging Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A 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
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
R7926:Cpn1 UTSW 19 43986158 missense probably benign 0.01
Z1177:Cpn1 UTSW 19 43973976 missense probably damaging 1.00
Posted On2015-04-16