Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Cpa3'

59687

Institutional Source

Beutler Lab

Gene Symbol

Cpa3

Ensembl Gene

ENSMUSG00000001865

Gene Name

carboxypeptidase A3, mast cell

Synonyms

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

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20215620-20242181 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20225194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 194 (T194A)

Ref Sequence

ENSEMBL: ENSMUSP00000001921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001921]

AlphaFold

P15089

Predicted Effect

probably benign
Transcript: ENSMUST00000001921
AA Change: T194A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: T194A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191659

Meta Mutation Damage Score

0.1046

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably 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
IGL02605:Cpa3	APN	3	20222212	missense	probably benign	0.15
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
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
R9383:Cpa3	UTSW	3	20228881	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCCCGAAGAAGAAGCCCATTCTTTATG -3'
(R):5'- ACGGGTTCTATTTGGCAGCTTTAAGTC -3'

Sequencing Primer
(F):5'- ggaagttggtgaagggaaatg -3'
(R):5'- GGCAGCTTTAAGTCTTGATAATTCAG -3'

Posted On

2013-07-11