Incidental Mutation 'IGL02605:Cpa3'
| ID |
300232 |
| 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 # |
IGL02605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
20269784-20296345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20276376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 286
(V286F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001921]
|
| AlphaFold |
P15089 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001921
AA Change: V286F
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: V286F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
27 |
103 |
9.5e-21 |
PFAM |
|
Zn_pept
|
119 |
400 |
3.77e-127 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184606
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,547,602 (GRCm39) |
Y992F |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
| Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
| Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,650,988 (GRCm39) |
D155V |
probably null |
Het |
| Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
| Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
| Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
| Pfdn6 |
T |
C |
17: 34,158,077 (GRCm39) |
Y90C |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,896 (GRCm39) |
V422M |
probably damaging |
Het |
| Psmc1 |
G |
T |
12: 100,085,386 (GRCm39) |
R249L |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
| Rars1 |
G |
A |
11: 35,715,353 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
| Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,985,044 (GRCm39) |
I450T |
possibly damaging |
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 |
|
|
IGL03333:Cpa3
|
APN |
3 |
20,269,992 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
2015-04-16 |
Incidental Mutation