Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02605:Cpa3'

300232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpa3

Ensembl Gene

ENSMUSG00000001865

Gene Name

carboxypeptidase A3, mast cell

Synonyms

MC-CPA, mast cell carboxypeptidase A, mMC-CPA

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02605

Quality Score

Status

Chromosome

Chromosomal Location

20215620-20242181 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20222212 bp

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]

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: 103,717,257	Y992F	probably benign	Het
Adgrg6	T	A	10: 14,467,232	N324Y	probably damaging	Het
Ampd3	T	C	7: 110,795,758	F305L	probably benign	Het
Ankrd35	A	G	3: 96,681,072		probably null	Het
Api5	A	G	2: 94,429,719	I64T	possibly damaging	Het
Arhgap21	A	G	2: 20,855,588	I1165T	probably damaging	Het
Bdp1	T	C	13: 100,078,115		probably null	Het
Capn3	T	A	2: 120,496,037	I570N	probably damaging	Het
Catsperg2	T	C	7: 29,719,565	H232R	possibly damaging	Het
Clcn7	T	C	17: 25,146,818	L156P	possibly damaging	Het
Csrnp3	G	A	2: 66,022,809	C527Y	probably damaging	Het
Dock5	A	T	14: 67,828,438	V372E	probably benign	Het
Elmo1	T	C	13: 20,605,202	L696P	probably damaging	Het
Fam91a1	T	C	15: 58,431,196		probably benign	Het
Gm12695	T	A	4: 96,762,751	D155V	probably null	Het
Hspa4l	A	G	3: 40,781,623	I559V	probably benign	Het
Kdm1a	G	T	4: 136,551,037		probably benign	Het
Lrrc8d	A	T	5: 105,826,817		noncoding transcript	Het
Minpp1	A	T	19: 32,498,415	Y316F	possibly damaging	Het
Neto2	T	C	8: 85,663,435		probably benign	Het
Nrxn2	T	A	19: 6,450,580	D277E	probably benign	Het
Ola1	A	G	2: 73,142,300		probably benign	Het
Olfr1298	A	G	2: 111,645,505	V164A	probably benign	Het
Olfr550	T	C	7: 102,579,395	I300T	probably damaging	Het
Olfr893	T	A	9: 38,209,236	M61K	probably damaging	Het
Pam	A	G	1: 97,840,339	V722A	possibly damaging	Het
Pfdn6	T	C	17: 33,939,103	Y90C	probably benign	Het
Pkhd1	T	A	1: 20,550,902	H844L	possibly damaging	Het
Plk5	G	A	10: 80,363,062	V422M	probably damaging	Het
Psmc1	G	T	12: 100,119,127	R249L	probably damaging	Het
Ptpro	C	T	6: 137,380,318	P269L	probably benign	Het
Ralgapa1	G	T	12: 55,712,665	H1480Q	possibly damaging	Het
Rars	G	A	11: 35,824,526		probably benign	Het
Rbm48	G	A	5: 3,590,600	R260C	possibly damaging	Het
Smarcc1	C	T	9: 110,222,000	H963Y	possibly damaging	Het
Spef2	T	C	15: 9,725,152	E230G	probably damaging	Het
Spg11	A	G	2: 122,092,260	S903P	probably benign	Het
Tas2r122	T	C	6: 132,711,609	Y107C	probably damaging	Het
Tpm3	C	A	3: 90,088,446	N204K	probably benign	Het
Wdr36	T	C	18: 32,851,991	I450T	possibly damaging	Het

Other mutations in Cpa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Cpa3	APN	3	20228815	missense	possibly damaging	0.95
IGL02471:Cpa3	APN	3	20228807	critical splice donor site	probably null
IGL03333:Cpa3	APN	3	20215828	missense	possibly damaging	0.52
IGL03351:Cpa3	APN	3	20215962	missense	probably benign
R0084:Cpa3	UTSW	3	20242101	splice site	probably benign
R0632:Cpa3	UTSW	3	20225194	missense	probably benign	0.00
R1017:Cpa3	UTSW	3	20239633	missense	possibly damaging	0.86
R1334:Cpa3	UTSW	3	20222223	missense	probably damaging	1.00
R1796:Cpa3	UTSW	3	20223227	splice site	probably null
R2310:Cpa3	UTSW	3	20227223	missense	probably damaging	1.00
R3945:Cpa3	UTSW	3	20225117	missense	probably damaging	1.00
R4467:Cpa3	UTSW	3	20228817	nonsense	probably null
R4551:Cpa3	UTSW	3	20219770	missense	probably benign	0.37
R4927:Cpa3	UTSW	3	20222139	missense	probably damaging	1.00
R5159:Cpa3	UTSW	3	20227223	missense	probably damaging	1.00
R5307:Cpa3	UTSW	3	20227163	critical splice donor site	probably null
R5564:Cpa3	UTSW	3	20242143	missense	possibly damaging	0.84
R6477:Cpa3	UTSW	3	20239575	missense	possibly damaging	0.81
R7624:Cpa3	UTSW	3	20225143	missense	possibly damaging	0.86
R8279:Cpa3	UTSW	3	20223314	missense	possibly damaging	0.70
R8302:Cpa3	UTSW	3	20222152	missense	probably damaging	1.00
R8387:Cpa3	UTSW	3	20227236	missense	probably benign	0.05
R8418:Cpa3	UTSW	3	20222151	missense	probably damaging	1.00

Posted On

2015-04-16