Incidental Mutation 'IGL00572:Cpn1'
ID |
3175 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpn1
|
Ensembl Gene |
ENSMUSG00000025196 |
Gene Name |
carboxypeptidase N, polypeptide 1 |
Synonyms |
CPN, 0610011F20Rik, 50 kDa |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00572
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
43944746-43974990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43952268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 338
(V338A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026210]
|
AlphaFold |
Q9JJN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026210
AA Change: V338A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026210 Gene: ENSMUSG00000025196 AA Change: V338A
Domain | Start | End | E-Value | Type |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
A |
G |
17: 56,127,648 (GRCm39) |
I563V |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,532,134 (GRCm39) |
L1033P |
probably damaging |
Het |
Aqr |
A |
C |
2: 113,956,423 (GRCm39) |
I840M |
possibly damaging |
Het |
Bmper |
G |
A |
9: 23,317,823 (GRCm39) |
V481M |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,463,595 (GRCm39) |
E683G |
probably damaging |
Het |
Cs |
A |
G |
10: 128,196,833 (GRCm39) |
|
probably benign |
Het |
Gm4540 |
C |
T |
3: 105,942,123 (GRCm39) |
|
probably benign |
Het |
Hdc |
A |
G |
2: 126,443,792 (GRCm39) |
F296L |
probably benign |
Het |
Helt |
T |
C |
8: 46,746,559 (GRCm39) |
E32G |
probably damaging |
Het |
Hivep1 |
C |
T |
13: 42,312,347 (GRCm39) |
A1529V |
probably benign |
Het |
Klk1b4 |
A |
T |
7: 43,860,198 (GRCm39) |
H104L |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,506,236 (GRCm39) |
F1911L |
probably benign |
Het |
Ncf2 |
C |
A |
1: 152,683,925 (GRCm39) |
T48N |
possibly damaging |
Het |
Phkg1 |
G |
A |
5: 129,893,914 (GRCm39) |
Q274* |
probably null |
Het |
Slc1a2 |
A |
G |
2: 102,607,921 (GRCm39) |
D520G |
possibly damaging |
Het |
Slc25a10 |
G |
T |
11: 120,387,933 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
A |
T |
17: 81,696,155 (GRCm39) |
S960T |
probably damaging |
Het |
Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
St7 |
A |
G |
6: 17,855,005 (GRCm39) |
E245G |
probably damaging |
Het |
Sypl1 |
T |
A |
12: 33,004,293 (GRCm39) |
S2T |
probably damaging |
Het |
Tbx20 |
T |
C |
9: 24,636,984 (GRCm39) |
T368A |
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,100,040 (GRCm39) |
T168A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,576,934 (GRCm39) |
D24653G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,777,323 (GRCm39) |
S1360P |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,280,203 (GRCm39) |
F282L |
probably benign |
Het |
Usp36 |
A |
T |
11: 118,155,646 (GRCm39) |
N875K |
possibly damaging |
Het |
Usp9x |
C |
A |
X: 12,991,815 (GRCm39) |
H869N |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 52,998,579 (GRCm39) |
E223G |
probably benign |
Het |
Zfp729a |
G |
A |
13: 67,767,440 (GRCm39) |
P930S |
probably benign |
Het |
Zscan10 |
G |
A |
17: 23,828,435 (GRCm39) |
V216M |
probably damaging |
Het |
|
Other mutations in Cpn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R3845:Cpn1
|
UTSW |
19 |
43,962,523 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |
|
Posted On |
2012-04-20 |