Incidental Mutation 'IGL02819:Cpn1'
| ID |
360925 |
| 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 # |
IGL02819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43944746-43974990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43956907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 286
(Y286H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026210]
|
| AlphaFold |
Q9JJN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026210
AA Change: Y286H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: Y286H
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
C |
T |
13: 54,712,033 (GRCm39) |
|
probably benign |
Het |
| Abcb8 |
T |
A |
5: 24,611,422 (GRCm39) |
N470K |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,223,329 (GRCm39) |
N1037Y |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,256,986 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,597,524 (GRCm39) |
D983G |
possibly damaging |
Het |
| Asf1a |
A |
G |
10: 53,483,920 (GRCm39) |
T118A |
probably benign |
Het |
| Atp2a3 |
T |
C |
11: 72,868,033 (GRCm39) |
Y389H |
probably damaging |
Het |
| Atp5f1b |
T |
C |
10: 127,919,821 (GRCm39) |
I63T |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,749,756 (GRCm39) |
V518A |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clcn2 |
C |
A |
16: 20,528,006 (GRCm39) |
E487* |
probably null |
Het |
| Cog6 |
T |
A |
3: 52,916,966 (GRCm39) |
K184M |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,277,624 (GRCm39) |
S448C |
probably damaging |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Cys1 |
T |
C |
12: 24,717,169 (GRCm39) |
E132G |
possibly damaging |
Het |
| Depdc7 |
T |
C |
2: 104,555,071 (GRCm39) |
M280V |
probably benign |
Het |
| Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
| Golga1 |
T |
A |
2: 38,929,090 (GRCm39) |
N318Y |
probably null |
Het |
| Hsd3b6 |
A |
G |
3: 98,718,262 (GRCm39) |
V34A |
probably benign |
Het |
| Krt9 |
A |
G |
11: 100,082,346 (GRCm39) |
I193T |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,902,565 (GRCm39) |
I180F |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,126,407 (GRCm39) |
T458A |
probably damaging |
Het |
| Lin28b |
A |
T |
10: 45,346,155 (GRCm39) |
M1K |
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,600 (GRCm39) |
C100R |
probably damaging |
Het |
| Nt5c3 |
A |
T |
6: 56,860,718 (GRCm39) |
M279K |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,742,255 (GRCm39) |
Y1016C |
probably damaging |
Het |
| Rpl6 |
A |
G |
5: 121,345,264 (GRCm39) |
|
probably benign |
Het |
| Rpn2 |
G |
T |
2: 157,158,130 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
T |
C |
8: 95,380,884 (GRCm39) |
V396A |
probably benign |
Het |
| Serpina3i |
C |
T |
12: 104,234,761 (GRCm39) |
T364I |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,030,509 (GRCm39) |
K242R |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,062,417 (GRCm39) |
N72S |
possibly damaging |
Het |
| Syt17 |
G |
A |
7: 118,009,143 (GRCm39) |
|
probably benign |
Het |
| Tatdn3 |
C |
A |
1: 190,787,541 (GRCm39) |
A114S |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,091,469 (GRCm39) |
V564A |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,777,253 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 144,995,703 (GRCm39) |
E452G |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
| Traf6 |
T |
C |
2: 101,515,134 (GRCm39) |
S97P |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,414,449 (GRCm39) |
E1321D |
probably benign |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation