Mutagenetix > Incidental Mutation

Incidental Mutation 'R4467:Cpa3'

329219

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

041724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20215620-20242181 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 20228817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 155 (Y155*)

Ref Sequence

ENSEMBL: ENSMUSP00000001921 (fasta)

Gene Model

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

AlphaFold

P15089

Predicted Effect

probably null
Transcript: ENSMUST00000001921
AA Change: Y155*

SMART Domains

Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: Y155*

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: ENSMUST00000191659

Meta Mutation Damage Score

0.9659

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

98% (52/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839 (GRCm38)		probably benign	Het
4930402H24Rik	A	G	2: 130,767,647 (GRCm38)	I372T	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,855 (GRCm38)	Y57H	probably damaging	Het
Bag4	C	T	8: 25,769,488 (GRCm38)	A228T	probably benign	Het
Bms1	G	A	6: 118,383,847 (GRCm38)	T1220I	probably damaging	Het
Brat1	T	C	5: 140,705,071 (GRCm38)		probably benign	Het
Casc1	A	T	6: 145,183,218 (GRCm38)		probably null	Het
Cds2	T	A	2: 132,294,446 (GRCm38)	Y39*	probably null	Het
Chrnd	T	A	1: 87,197,377 (GRCm38)	L384Q	probably damaging	Het
Crlf1	G	A	8: 70,500,956 (GRCm38)	W260*	probably null	Het
Cux1	C	G	5: 136,312,722 (GRCm38)	E605D	probably damaging	Het
Cylc2	C	G	4: 51,229,651 (GRCm38)	T331R	unknown	Het
Dmtf1	T	C	5: 9,136,085 (GRCm38)	N167S	probably damaging	Het
Dtx2	T	A	5: 136,012,076 (GRCm38)	W112R	probably damaging	Het
Elf3	A	G	1: 135,256,844 (GRCm38)	I138T	probably damaging	Het
F11	T	A	8: 45,241,474 (GRCm38)	I617F	probably damaging	Het
Fdps	A	T	3: 89,100,786 (GRCm38)	D8E	possibly damaging	Het
Fzd10	C	A	5: 128,601,276 (GRCm38)	T20K	probably benign	Het
Gm9978	T	A	10: 78,486,916 (GRCm38)		noncoding transcript	Het
Gpr158	T	A	2: 21,826,999 (GRCm38)	M970K	probably damaging	Het
Has1	C	T	17: 17,843,995 (GRCm38)	V461M	probably benign	Het
Hdac3	C	T	18: 37,952,513 (GRCm38)	G80D	probably benign	Het
Klk12	A	T	7: 43,773,383 (GRCm38)	R245W	probably damaging	Het
Lamp5	A	G	2: 136,059,020 (GRCm38)	I47V	probably damaging	Het
Olfr786	T	C	10: 129,437,064 (GRCm38)	I84T	probably benign	Het
Ovgp1	A	G	3: 105,977,711 (GRCm38)	D122G	probably benign	Het
Piezo1	T	C	8: 122,486,396 (GRCm38)	E1875G	probably benign	Het
Pih1d1	A	G	7: 45,158,497 (GRCm38)	M132V	possibly damaging	Het
Pon2	C	T	6: 5,267,021 (GRCm38)	A241T	probably benign	Het
Prkce	A	G	17: 86,619,911 (GRCm38)	I538V	possibly damaging	Het
Rab36	C	T	10: 75,052,043 (GRCm38)	R249*	probably null	Het
Rps6kl1	C	T	12: 85,147,808 (GRCm38)	A110T	probably damaging	Het
Rsad1	T	C	11: 94,544,530 (GRCm38)	T244A	probably benign	Het
Slc22a7	T	C	17: 46,432,510 (GRCm38)	I532V	probably benign	Het
Slc2a7	T	C	4: 150,163,274 (GRCm38)	V377A	possibly damaging	Het
Slx4	A	G	16: 3,989,055 (GRCm38)	V508A	possibly damaging	Het
Stag2	A	G	X: 42,233,872 (GRCm38)	S400G	probably benign	Het
Stat6	T	G	10: 127,651,228 (GRCm38)	I201M	probably damaging	Het
Stim2	T	C	5: 54,116,194 (GRCm38)		probably null	Het
Tbc1d9	A	G	8: 83,210,478 (GRCm38)	Y63C	probably damaging	Het
Tctn2	T	C	5: 124,620,189 (GRCm38)		noncoding transcript	Het
Tmem181a	T	A	17: 6,295,786 (GRCm38)	L185H	probably damaging	Het
Ubr5	T	A	15: 38,004,336 (GRCm38)	T1282S	probably damaging	Het
Ufl1	A	T	4: 25,254,806 (GRCm38)	I550N	probably damaging	Het
Uty	A	G	Y: 1,158,372 (GRCm38)	V557A	possibly damaging	Het
Vmn1r54	T	C	6: 90,269,271 (GRCm38)	S56P	probably damaging	Het
Zfp980	G	A	4: 145,702,083 (GRCm38)	G461S	probably benign	Het

Other mutations in Cpa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Cpa3	APN	3	20,228,815 (GRCm38)	missense	possibly damaging	0.95
IGL02471:Cpa3	APN	3	20,228,807 (GRCm38)	critical splice donor site	probably null
IGL02605:Cpa3	APN	3	20,222,212 (GRCm38)	missense	probably benign	0.15
IGL03333:Cpa3	APN	3	20,215,828 (GRCm38)	missense	possibly damaging	0.52
IGL03351:Cpa3	APN	3	20,215,962 (GRCm38)	missense	probably benign
R0084:Cpa3	UTSW	3	20,242,101 (GRCm38)	splice site	probably benign
R0632:Cpa3	UTSW	3	20,225,194 (GRCm38)	missense	probably benign	0.00
R1017:Cpa3	UTSW	3	20,239,633 (GRCm38)	missense	possibly damaging	0.86
R1334:Cpa3	UTSW	3	20,222,223 (GRCm38)	missense	probably damaging	1.00
R1796:Cpa3	UTSW	3	20,223,227 (GRCm38)	splice site	probably null
R2310:Cpa3	UTSW	3	20,227,223 (GRCm38)	missense	probably damaging	1.00
R3945:Cpa3	UTSW	3	20,225,117 (GRCm38)	missense	probably damaging	1.00
R4551:Cpa3	UTSW	3	20,219,770 (GRCm38)	missense	probably benign	0.37
R4927:Cpa3	UTSW	3	20,222,139 (GRCm38)	missense	probably damaging	1.00
R5159:Cpa3	UTSW	3	20,227,223 (GRCm38)	missense	probably damaging	1.00
R5307:Cpa3	UTSW	3	20,227,163 (GRCm38)	critical splice donor site	probably null
R5564:Cpa3	UTSW	3	20,242,143 (GRCm38)	missense	possibly damaging	0.84
R6477:Cpa3	UTSW	3	20,239,575 (GRCm38)	missense	possibly damaging	0.81
R7624:Cpa3	UTSW	3	20,225,143 (GRCm38)	missense	possibly damaging	0.86
R8279:Cpa3	UTSW	3	20,223,314 (GRCm38)	missense	possibly damaging	0.70
R8302:Cpa3	UTSW	3	20,222,152 (GRCm38)	missense	probably damaging	1.00
R8387:Cpa3	UTSW	3	20,227,236 (GRCm38)	missense	probably benign	0.05
R8418:Cpa3	UTSW	3	20,222,151 (GRCm38)	missense	probably damaging	1.00
R9383:Cpa3	UTSW	3	20,228,881 (GRCm38)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCAATCTCTAGCAGGTACTTGC -3'
(R):5'- GGGACAAGGTAGGCTATACAATGTC -3'

Sequencing Primer
(F):5'- GATCGTGTGAAAGACTATTGAT -3'
(R):5'- GGTAGGCTATACAATGTCTATTGC -3'

Posted On

2015-07-21