Incidental Mutation 'IGL03333:Cpa3'
| ID |
416910 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpa3
|
| Ensembl Gene |
ENSMUSG00000001865 |
| Gene Name |
carboxypeptidase A3, mast cell |
| Synonyms |
mast cell carboxypeptidase A, MC-CPA, mMC-CPA |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
20269784-20296345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20269992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 411
(Y411H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001921]
|
| AlphaFold |
P15089 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001921
AA Change: Y411H
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: Y411H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
27 |
103 |
9.5e-21 |
PFAM |
|
Zn_pept
|
119 |
400 |
3.77e-127 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases and preproprotein that is proteolytically processed to generate a mature protein product. This product is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Homozygous knockout mice for this gene exhibit impaired mast cell development. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have immature peritoneal mast cells but normal mast cell functions. [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 |
|---|
| Arhgap39 |
T |
C |
15: 76,610,932 (GRCm39) |
M893V |
probably benign |
Het |
| Ccdc185 |
C |
A |
1: 182,576,398 (GRCm39) |
G97V |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,597,092 (GRCm39) |
T422A |
possibly damaging |
Het |
| Ckap2l |
A |
C |
2: 129,138,228 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
A |
11: 69,385,949 (GRCm39) |
R1011L |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,689,275 (GRCm39) |
K30* |
probably null |
Het |
| Ep400 |
C |
T |
5: 110,851,432 (GRCm39) |
R1350H |
unknown |
Het |
| Epha6 |
T |
C |
16: 59,503,051 (GRCm39) |
D952G |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,191,987 (GRCm39) |
V195L |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,660 (GRCm39) |
M324V |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,847,703 (GRCm39) |
S198P |
probably damaging |
Het |
| Gcdh |
T |
C |
8: 85,617,700 (GRCm39) |
T202A |
probably benign |
Het |
| Gm6619 |
G |
A |
6: 131,467,471 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,357,871 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
C |
4: 117,037,833 (GRCm39) |
V31G |
possibly damaging |
Het |
| Kpna7 |
T |
C |
5: 144,942,765 (GRCm39) |
I74V |
possibly damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,731 (GRCm39) |
|
probably benign |
Het |
| Man2b2 |
T |
A |
5: 36,973,483 (GRCm39) |
I499F |
probably damaging |
Het |
| Mmd2 |
G |
T |
5: 142,553,693 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
C |
T |
14: 50,890,855 (GRCm39) |
Q54* |
probably null |
Het |
| Or2r11 |
T |
C |
6: 42,437,773 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b1 |
T |
A |
6: 42,815,637 (GRCm39) |
I274N |
possibly damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,308 (GRCm39) |
Y193N |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,661,800 (GRCm39) |
S1412P |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,827 (GRCm39) |
V245E |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,267 (GRCm39) |
D458V |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,517,284 (GRCm39) |
L138P |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,506,290 (GRCm39) |
H699Q |
possibly damaging |
Het |
| Spata17 |
A |
T |
1: 186,872,667 (GRCm39) |
M1K |
probably null |
Het |
| Tpr |
T |
A |
1: 150,302,718 (GRCm39) |
D1331E |
probably benign |
Het |
| Ttc4 |
A |
G |
4: 106,533,828 (GRCm39) |
Y120H |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,026,654 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
A |
9: 108,371,348 (GRCm39) |
M285K |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,177 (GRCm39) |
F12Y |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,075 (GRCm39) |
K325E |
probably benign |
Het |
| Vps33b |
T |
C |
7: 79,923,973 (GRCm39) |
|
probably benign |
Het |
| Zfp784 |
C |
T |
7: 5,039,351 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cpa3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Cpa3
|
APN |
3 |
20,282,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02471:Cpa3
|
APN |
3 |
20,282,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02605:Cpa3
|
APN |
3 |
20,276,376 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03351:Cpa3
|
APN |
3 |
20,270,126 (GRCm39) |
missense |
probably benign |
|
|
R0084:Cpa3
|
UTSW |
3 |
20,296,265 (GRCm39) |
splice site |
probably benign |
|
|
R0632:Cpa3
|
UTSW |
3 |
20,279,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1017:Cpa3
|
UTSW |
3 |
20,293,797 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1334:Cpa3
|
UTSW |
3 |
20,276,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Cpa3
|
UTSW |
3 |
20,277,391 (GRCm39) |
splice site |
probably null |
|
|
R2310:Cpa3
|
UTSW |
3 |
20,281,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Cpa3
|
UTSW |
3 |
20,279,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4467:Cpa3
|
UTSW |
3 |
20,282,981 (GRCm39) |
nonsense |
probably null |
|
|
R4551:Cpa3
|
UTSW |
3 |
20,273,934 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4927:Cpa3
|
UTSW |
3 |
20,276,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Cpa3
|
UTSW |
3 |
20,281,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Cpa3
|
UTSW |
3 |
20,281,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5564:Cpa3
|
UTSW |
3 |
20,296,307 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6477:Cpa3
|
UTSW |
3 |
20,293,739 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7624:Cpa3
|
UTSW |
3 |
20,279,307 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8279:Cpa3
|
UTSW |
3 |
20,277,478 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8302:Cpa3
|
UTSW |
3 |
20,276,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Cpa3
|
UTSW |
3 |
20,281,400 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8418:Cpa3
|
UTSW |
3 |
20,276,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Cpa3
|
UTSW |
3 |
20,283,045 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2016-08-02 |
Incidental Mutation