Mutagenetix > Incidental Mutation

Incidental Mutation 'R3945:Cpa3'

307633

Institutional Source

Beutler Lab

Gene Symbol

Cpa3

Ensembl Gene

ENSMUSG00000001865

Gene Name

carboxypeptidase A3, mast cell

Synonyms

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

MMRRC Submission

040926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20269784-20296345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20279281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 219 (N219K)

Ref Sequence

ENSEMBL: ENSMUSP00000001921 (fasta)

Gene Model

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

AlphaFold

P15089

Predicted Effect

probably damaging
Transcript: ENSMUST00000001921
AA Change: N219K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: N219K

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

0.7445

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (54/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,601 (GRCm39)	L1166P	probably damaging	Het
Actn4	T	C	7: 28,611,661 (GRCm39)		probably null	Het
Adamts17	A	T	7: 66,770,687 (GRCm39)	E905V	probably benign	Het
Adck5	A	G	15: 76,479,400 (GRCm39)	N485S	probably damaging	Het
Agr3	C	A	12: 35,997,512 (GRCm39)		probably benign	Het
Ankrd12	G	A	17: 66,283,098 (GRCm39)	T1921I	probably damaging	Het
Ascl2	T	C	7: 142,521,708 (GRCm39)	S247G	probably benign	Het
Atp7b	T	C	8: 22,510,880 (GRCm39)	E422G	probably benign	Het
Bltp2	T	C	11: 78,180,790 (GRCm39)	I2229T	probably damaging	Het
C630050I24Rik	C	T	8: 107,845,894 (GRCm39)	R15*	probably null	Het
Cabin1	T	G	10: 75,581,093 (GRCm39)	Q411P	probably damaging	Het
Chrne	T	C	11: 70,507,869 (GRCm39)	I277V	possibly damaging	Het
Coch	A	G	12: 51,648,595 (GRCm39)		probably null	Het
Corin	A	G	5: 72,515,767 (GRCm39)	V429A	probably damaging	Het
Creb3l1	T	C	2: 91,821,556 (GRCm39)	E273G	probably damaging	Het
Csmd1	A	C	8: 15,960,619 (GRCm39)		probably null	Het
Ddx59	A	G	1: 136,362,356 (GRCm39)	D527G	probably damaging	Het
Defa25	G	A	8: 21,574,506 (GRCm39)	V17I	probably null	Het
Efs	A	G	14: 55,158,108 (GRCm39)		probably benign	Het
Ern2	A	G	7: 121,775,753 (GRCm39)	M447T	probably benign	Het
Fgfr2	C	T	7: 129,779,485 (GRCm39)	E596K	possibly damaging	Het
Filip1	T	C	9: 79,725,649 (GRCm39)	K990R	probably benign	Het
Ipo8	T	A	6: 148,719,615 (GRCm39)	Q110L	probably damaging	Het
Kank4	T	A	4: 98,659,517 (GRCm39)	I854F	probably damaging	Het
Mst1	G	A	9: 107,962,052 (GRCm39)	C681Y	probably damaging	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or1s2	A	G	19: 13,758,786 (GRCm39)	E270G	probably benign	Het
Or4f4b	C	T	2: 111,314,032 (GRCm39)	Q86*	probably null	Het
Pde11a	T	C	2: 75,906,275 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,522,253 (GRCm39)		probably benign	Het
Rcbtb1	G	A	14: 59,462,225 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,176 (GRCm39)	R72H	probably benign	Het
Samd9l	A	T	6: 3,377,029 (GRCm39)	S77R	possibly damaging	Het
Sin3b	A	G	8: 73,460,067 (GRCm39)	D218G	possibly damaging	Het
Slc22a23	A	G	13: 34,367,109 (GRCm39)	I633T	probably damaging	Het
Spen	T	C	4: 141,204,664 (GRCm39)	D1321G	unknown	Het
Ssh2	T	C	11: 77,345,494 (GRCm39)	S1160P	possibly damaging	Het
Synrg	T	A	11: 83,914,232 (GRCm39)	D952E	probably damaging	Het
Tigd3	A	G	19: 5,942,461 (GRCm39)	F223S	probably damaging	Het
Trim66	G	A	7: 109,071,475 (GRCm39)	T608I	possibly damaging	Het
Trmt13	A	G	3: 116,375,167 (GRCm39)	F447S	probably damaging	Het
Trpc2	T	C	7: 101,737,486 (GRCm39)	I800T	possibly damaging	Het
Ugt3a1	A	T	15: 9,370,184 (GRCm39)	I443F	possibly damaging	Het
Vamp2	C	A	11: 68,980,000 (GRCm39)	P24Q	unknown	Het
Vmn1r113	A	G	7: 20,521,637 (GRCm39)	Y143C	probably benign	Het
Vmn1r14	T	A	6: 57,211,254 (GRCm39)	N277K	probably benign	Het
Vmn1r181	T	A	7: 23,683,577 (GRCm39)	V14E	probably damaging	Het
Wdfy4	A	T	14: 32,688,352 (GRCm39)	I3086N	probably damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCCCGAAGAAGAAGCCC -3'
(R):5'- CATGTCCCTGCATTTAATACGTGAG -3'

Sequencing Primer
(F):5'- TTGGTGAAGGGAAATGTTTAAGATC -3'
(R):5'- CCCTGCATTTAATACGTGAGTTTATC -3'

Posted On

2015-04-17