Incidental Mutation 'R5922:Cpn1'
ID |
461659 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpn1
|
Ensembl Gene |
ENSMUSG00000025196 |
Gene Name |
carboxypeptidase N, polypeptide 1 |
Synonyms |
CPN, 0610011F20Rik, 50 kDa |
MMRRC Submission |
043240-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5922 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
43944746-43974990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43974532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 66
(S66G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026210]
|
AlphaFold |
Q9JJN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026210
AA Change: S66G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026210 Gene: ENSMUSG00000025196 AA Change: S66G
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
Zn_pept
|
25 |
428 |
5.39e-41 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
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 |
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 |
|
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'- ATGTGTTGGAGCCTGAACTG -3'
(R):5'- TTAGAAGCTCCGCGAGATGC -3'
Sequencing Primer
(F):5'- CCTAGGGGAGCTTGAGAACC -3'
(R):5'- AGATGCCAGACCTGCCCTC -3'
|
Posted On |
2017-02-28 |