Mutagenetix > Incidental Mutation

Incidental Mutation 'R8387:Cpa3'

647193

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

067876-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8387 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20269784-20296345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20281400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 169 (I169V)

Ref Sequence

ENSEMBL: ENSMUSP00000001921 (fasta)

Gene Model

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

AlphaFold

P15089

Predicted Effect

probably benign
Transcript: ENSMUST00000001921
AA Change: I169V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: I169V

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,874,698 (GRCm39)	D453N	probably damaging	Het
Arl14ep	T	C	2: 106,799,562 (GRCm39)	D93G	probably damaging	Het
Bcl7b	T	C	5: 135,197,413 (GRCm39)	I18T	probably damaging	Het
Cdh1	A	G	8: 107,390,501 (GRCm39)	I614V	probably benign	Het
Cpeb4	T	C	11: 31,858,877 (GRCm39)		probably null	Het
Csmd1	G	A	8: 16,050,484 (GRCm39)	H2251Y	possibly damaging	Het
Dab2ip	T	A	2: 35,609,870 (GRCm39)	I695K	probably damaging	Het
Dhtkd1	C	A	2: 5,934,479 (GRCm39)	L230F	possibly damaging	Het
Emc1	T	C	4: 139,088,600 (GRCm39)	S353P	probably benign	Het
Erc2	T	A	14: 27,375,253 (GRCm39)	L157Q	possibly damaging	Het
Flvcr1	A	G	1: 190,743,731 (GRCm39)		probably null	Het
Fryl	A	C	5: 73,293,663 (GRCm39)		probably null	Het
Gnl2	T	C	4: 124,949,127 (GRCm39)	*729Q	probably null	Het
Gpr63	G	A	4: 25,008,301 (GRCm39)	V342M	possibly damaging	Het
Guf1	C	T	5: 69,723,810 (GRCm39)	P463L	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ifngr2	T	C	16: 91,358,535 (GRCm39)	L245P	probably damaging	Het
Igsf10	A	G	3: 59,236,564 (GRCm39)	F1206L	probably damaging	Het
Ktn1	T	A	14: 47,944,744 (GRCm39)		probably null	Het
Lekr1	A	G	3: 65,591,520 (GRCm39)	K86E	possibly damaging	Het
Lrrc3	C	T	10: 77,737,346 (GRCm39)	G30D	possibly damaging	Het
Mapk8ip2	T	C	15: 89,344,897 (GRCm39)	F765L	probably damaging	Het
Myo6	A	G	9: 80,183,632 (GRCm39)	T676A	unknown	Het
Nr4a1	T	C	15: 101,171,053 (GRCm39)	S510P	probably damaging	Het
Or2o1	T	C	11: 49,051,497 (GRCm39)	S219P	probably damaging	Het
Or4c113	T	C	2: 88,885,646 (GRCm39)	I41M	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or51e1	C	T	7: 102,359,402 (GRCm39)	T312I	probably benign	Het
Or5a1	A	G	19: 12,097,785 (GRCm39)	L97P	probably damaging	Het
Pdcd1	G	A	1: 93,969,193 (GRCm39)	L42F	probably damaging	Het
Pdzd7	T	C	19: 45,018,490 (GRCm39)	D621G	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pias4	G	A	10: 80,990,342 (GRCm39)	R398C	probably benign	Het
Plekha6	A	T	1: 133,219,893 (GRCm39)		probably null	Het
Prkag3	A	G	1: 74,784,854 (GRCm39)		probably null	Het
Ptpn7	A	G	1: 135,061,606 (GRCm39)	T23A	probably benign	Het
Ptprd	T	C	4: 75,873,526 (GRCm39)	D1069G	probably damaging	Het
Ptprr	A	G	10: 116,087,030 (GRCm39)	Y503C	probably damaging	Het
Slc26a8	T	C	17: 28,866,899 (GRCm39)	D610G	probably benign	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Tenm3	A	G	8: 48,740,883 (GRCm39)	F1200S	probably damaging	Het
Tox3	A	G	8: 90,984,595 (GRCm39)	S195P	probably benign	Het
Trim44	T	C	2: 102,230,518 (GRCm39)	E171G	probably damaging	Het
Vars1	T	A	17: 35,229,490 (GRCm39)	M369K	probably damaging	Het
Vmn2r77	C	A	7: 86,450,947 (GRCm39)	Q278K	probably benign	Het
Zfp345	T	C	2: 150,314,740 (GRCm39)	T266A	probably damaging	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
R3945:Cpa3	UTSW	3	20,279,281 (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
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'- TGCAGACTTCTCTAACTAGGTGG -3'
(R):5'- CAGCTCTGAACCTTGGGAAATTTC -3'

Sequencing Primer
(F):5'- TGGAACACTTCTCATTTGGAAAGGG -3'
(R):5'- TGTAACAGAAGATGAACTATGAATGG -3'

Posted On

2020-09-02