Incidental Mutation 'IGL01781:Cpn1'
ID |
153919 |
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 # |
IGL01781
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
43944746-43974990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43954657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 323
(E323V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026210]
|
AlphaFold |
Q9JJN5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026210
AA Change: E323V
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026210 Gene: ENSMUSG00000025196 AA Change: E323V
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,280 (GRCm39) |
I3618N |
probably damaging |
Het |
Acss1 |
A |
G |
2: 150,479,792 (GRCm39) |
L305P |
probably damaging |
Het |
Alox12e |
A |
T |
11: 70,212,282 (GRCm39) |
L132Q |
probably damaging |
Het |
Atp6v0a4 |
T |
C |
6: 38,051,095 (GRCm39) |
N428D |
possibly damaging |
Het |
Ccdc80 |
C |
T |
16: 44,946,493 (GRCm39) |
H811Y |
probably damaging |
Het |
Cgn |
T |
C |
3: 94,680,515 (GRCm39) |
M596V |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,850,230 (GRCm39) |
S447P |
probably benign |
Het |
Cyp2f2 |
A |
T |
7: 26,829,846 (GRCm39) |
Y182F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
Eri3 |
T |
C |
4: 117,421,874 (GRCm39) |
F51L |
probably benign |
Het |
Fgd5 |
A |
G |
6: 91,965,698 (GRCm39) |
S486G |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Ifna4 |
T |
C |
4: 88,760,389 (GRCm39) |
S98P |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,072,588 (GRCm39) |
K340R |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,971,089 (GRCm39) |
N759S |
possibly damaging |
Het |
Mfsd1 |
A |
G |
3: 67,495,244 (GRCm39) |
|
probably benign |
Het |
Or2d36 |
T |
A |
7: 106,746,903 (GRCm39) |
C127S |
probably damaging |
Het |
Pdcd6ip |
G |
T |
9: 113,520,566 (GRCm39) |
N139K |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,167,349 (GRCm39) |
I193N |
possibly damaging |
Het |
Pip4p2 |
T |
C |
4: 14,893,566 (GRCm39) |
L143S |
probably damaging |
Het |
Pramel28 |
C |
A |
4: 143,692,299 (GRCm39) |
C234F |
probably benign |
Het |
Psg27 |
T |
A |
7: 18,298,989 (GRCm39) |
T111S |
probably damaging |
Het |
Ptprs |
G |
A |
17: 56,742,676 (GRCm39) |
L489F |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 91,996,846 (GRCm39) |
V76A |
probably benign |
Het |
Scd1 |
A |
T |
19: 44,388,787 (GRCm39) |
M221K |
possibly damaging |
Het |
Slc38a7 |
A |
G |
8: 96,570,386 (GRCm39) |
|
probably null |
Het |
Spon2 |
T |
C |
5: 33,372,904 (GRCm39) |
D266G |
probably benign |
Het |
Spry4 |
C |
T |
18: 38,723,478 (GRCm39) |
G95D |
probably damaging |
Het |
Supt20 |
A |
G |
3: 54,602,626 (GRCm39) |
M1V |
probably null |
Het |
Trappc11 |
A |
C |
8: 47,967,163 (GRCm39) |
F404V |
possibly damaging |
Het |
Vmn1r178 |
C |
A |
7: 23,593,434 (GRCm39) |
Q161K |
probably damaging |
Het |
Vmn2r25 |
T |
C |
6: 123,816,324 (GRCm39) |
E419G |
possibly damaging |
Het |
Vstm5 |
A |
G |
9: 15,168,968 (GRCm39) |
H146R |
probably damaging |
Het |
|
Other mutations in Cpn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2014-02-04 |