Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Cpa3'

589305

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

045689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20215620-20242181 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20225143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 211 (N211D)

Ref Sequence

ENSEMBL: ENSMUSP00000001921 (fasta)

Gene Model

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

AlphaFold

P15089

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001921
AA Change: N211D

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: N211D

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	27	103	9.5e-21	PFAM
Zn_pept	119	400	3.77e-127	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,454,768 (GRCm38)	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,772,677 (GRCm38)	M514L	possibly damaging	Het
Ccdc78	A	G	17: 25,787,152 (GRCm38)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,090,357 (GRCm38)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 95,751,819 (GRCm38)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,645,794 (GRCm38)		probably null	Het
Col4a3	A	G	1: 82,718,884 (GRCm38)	T177A	probably benign	Het
Cripto	C	T	9: 110,945,949 (GRCm38)		probably benign	Het
Cryba1	T	C	11: 77,722,717 (GRCm38)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,244,844 (GRCm38)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,149,563 (GRCm38)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,942,674 (GRCm38)	R346L	probably damaging	Het
Dnajc21	A	T	15: 10,461,234 (GRCm38)	I210N	probably damaging	Het
Dnajc21	G	A	15: 10,461,232 (GRCm38)	R211C	probably benign	Het
Dscam	T	C	16: 96,610,324 (GRCm38)	D1784G	probably damaging	Het
Eya3	A	G	4: 132,672,951 (GRCm38)	T94A	probably benign	Het
Fan1	T	A	7: 64,372,486 (GRCm38)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,959,869 (GRCm38)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,738,690 (GRCm38)	F309L	probably benign	Het
Gfra1	A	T	19: 58,238,446 (GRCm38)	M451K	probably benign	Het
Gm43517	T	A	12: 49,391,178 (GRCm38)	L318Q		Het
Gsc	A	T	12: 104,473,051 (GRCm38)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,569,108 (GRCm38)	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,398,044 (GRCm38)	S486P	probably benign	Het
Itga10	T	A	3: 96,652,953 (GRCm38)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,176,136 (GRCm38)	D28G	probably benign	Het
Kiss1	A	G	1: 133,329,422 (GRCm38)	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,661,414 (GRCm38)	I182V	probably benign	Het
Lcorl	T	C	5: 45,701,965 (GRCm38)	D269G	probably benign	Het
Letm2	A	T	8: 25,592,537 (GRCm38)	C174*	probably null	Het
Met	T	G	6: 17,558,835 (GRCm38)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,419,189 (GRCm38)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,917,131 (GRCm38)	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,458,272 (GRCm38)	L604P	probably damaging	Het
Or12e10	A	G	2: 87,810,339 (GRCm38)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,616,561 (GRCm38)	F28S	possibly damaging	Het
Or5h18	T	A	16: 59,027,019 (GRCm38)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,672,623 (GRCm38)	V274I	probably benign	Het
Or8u9	A	T	2: 86,171,220 (GRCm38)	I199N	possibly damaging	Het
Or9r7	A	C	10: 130,126,586 (GRCm38)	I157S	probably damaging	Het
Pcdha9	T	A	18: 36,999,796 (GRCm38)	Y639*	probably null	Het
Pom121l2	A	T	13: 21,983,529 (GRCm38)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,829,623 (GRCm38)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,332,099 (GRCm38)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,732,427 (GRCm38)	M101L	probably benign	Het
Rtkn	A	G	6: 83,152,177 (GRCm38)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,433,479 (GRCm38)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,514,416 (GRCm38)		probably null	Het
Serpinb1b	T	A	13: 33,091,639 (GRCm38)		probably null	Het
Sgsm1	A	T	5: 113,274,335 (GRCm38)	C484*	probably null	Het
Slc22a19	T	A	19: 7,673,303 (GRCm38)	K547*	probably null	Het
Slc22a19	T	C	19: 7,693,818 (GRCm38)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,941,866 (GRCm38)	K526N	probably benign	Het
Sqle	G	A	15: 59,330,754 (GRCm38)	R519Q	probably benign	Het
Stard9	T	C	2: 120,688,146 (GRCm38)	I517T	probably benign	Het
Taf15	A	T	11: 83,505,023 (GRCm38)	D518V	unknown	Het
Tenm4	A	G	7: 96,895,985 (GRCm38)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,868,710 (GRCm38)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,892,219 (GRCm38)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,883,678 (GRCm38)		probably benign	Het
Ugt2b34	C	T	5: 86,891,282 (GRCm38)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,476,805 (GRCm38)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,382,736 (GRCm38)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,675,601 (GRCm38)	M94L	probably benign	Het
Wnk4	G	T	11: 101,264,354 (GRCm38)	E364*	probably null	Het
Xpo1	T	A	11: 23,282,584 (GRCm38)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,246,296 (GRCm38)	T656A	probably benign	Het
Zfp934	T	C	13: 62,518,524 (GRCm38)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,498,771 (GRCm38)	V134A	probably damaging	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
R4467:Cpa3	UTSW	3	20,228,817 (GRCm38)	nonsense	probably null
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
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'- TTCCCGAAGAAGAAGCCCATTC -3'
(R):5'- ATGTCCCTGCATTTAATACGTGAG -3'

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

Posted On

2019-10-24