Mutagenetix > Incidental Mutation

Incidental Mutation 'R5564:Cpa3'

436727

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

043121-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5564 (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 20296307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 10 (I10N)

Ref Sequence

ENSEMBL: ENSMUSP00000001921 (fasta)

Gene Model

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

AlphaFold

P15089

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001921
AA Change: I10N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: I10N

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

0.2021

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,659,513 (GRCm39)	V322A	probably benign	Het
Abca8b	G	T	11: 109,825,407 (GRCm39)	L1598M	probably benign	Het
Adam4	T	C	12: 81,466,348 (GRCm39)	T758A	probably benign	Het
B3galnt2	T	C	13: 14,169,814 (GRCm39)	I424T	probably damaging	Het
Cacna1g	T	C	11: 94,321,312 (GRCm39)	Y1316C	probably damaging	Het
Cacna2d1	T	C	5: 16,517,517 (GRCm39)	S388P	probably damaging	Het
Ccdc157	A	G	11: 4,098,765 (GRCm39)	L247S	probably damaging	Het
Cdh8	A	G	8: 99,757,498 (GRCm39)	I700T	possibly damaging	Het
Cdhr3	G	T	12: 33,098,985 (GRCm39)	Y535*	probably null	Het
Clasp2	T	C	9: 113,641,836 (GRCm39)		probably null	Het
Col16a1	T	A	4: 129,947,151 (GRCm39)	D165E	probably damaging	Het
Col9a1	A	T	1: 24,234,436 (GRCm39)		probably benign	Het
Cstf3	T	A	2: 104,439,347 (GRCm39)		probably benign	Het
Dnah3	C	A	7: 119,570,689 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,874,706 (GRCm39)	C263R	probably benign	Het
Eps8l2	C	A	7: 140,936,534 (GRCm39)	Q288K	possibly damaging	Het
Fam193a	T	A	5: 34,578,199 (GRCm39)	V231D	probably damaging	Het
Gjd3	C	T	11: 102,691,029 (GRCm39)	G325S	probably benign	Het
Gpatch8	T	A	11: 102,429,111 (GRCm39)	E39D	unknown	Het
Gpr107	C	T	2: 31,042,375 (GRCm39)	A2V	probably damaging	Het
Kansl3	G	T	1: 36,385,045 (GRCm39)	H629N	possibly damaging	Het
Kcna10	C	A	3: 107,101,545 (GRCm39)	H59N	probably benign	Het
Kitl	A	T	10: 99,915,886 (GRCm39)	E138D	possibly damaging	Het
Kpna2	T	C	11: 106,881,571 (GRCm39)	K353R	probably damaging	Het
M1ap	T	A	6: 82,958,798 (GRCm39)	I143N	probably damaging	Het
Macf1	A	G	4: 123,420,538 (GRCm39)	S239P	possibly damaging	Het
Med13l	T	A	5: 118,880,105 (GRCm39)	S1066T	probably damaging	Het
Mettl23	G	T	11: 116,739,865 (GRCm39)	E47*	probably null	Het
Or52i2	T	C	7: 102,319,433 (GRCm39)	F102S	probably damaging	Het
Or5af1	C	T	11: 58,722,039 (GRCm39)	Q20*	probably null	Het
Proca1	T	A	11: 78,092,699 (GRCm39)	D48E	possibly damaging	Het
Rab34	T	G	11: 78,082,458 (GRCm39)	V227G	probably damaging	Het
Rab7	A	T	6: 87,990,632 (GRCm39)	L14Q	probably damaging	Het
Rasgef1c	C	T	11: 49,847,934 (GRCm39)	S23F	probably benign	Het
Rit1	A	G	3: 88,633,457 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,174,568 (GRCm39)	T172A	probably benign	Het
Scmh1	C	A	4: 120,325,575 (GRCm39)	N97K	probably damaging	Het
Skint6	T	C	4: 112,846,162 (GRCm39)	E655G	possibly damaging	Het
Slc22a15	A	G	3: 101,771,905 (GRCm39)	V243A	probably benign	Het
Smg1	A	G	7: 117,789,042 (GRCm39)		probably benign	Het
Smim7	C	T	8: 73,324,867 (GRCm39)	G3R	probably damaging	Het
Snurf	C	T	7: 59,645,282 (GRCm39)	R44H	possibly damaging	Het
Snx13	G	A	12: 35,174,471 (GRCm39)	A667T	possibly damaging	Het
Sowaha	T	G	11: 53,369,590 (GRCm39)	H382P	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem259	G	T	10: 79,814,442 (GRCm39)		probably null	Het
Topbp1	A	G	9: 103,211,277 (GRCm39)	T945A	probably damaging	Het
Tor1aip2	T	C	1: 155,939,307 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,527,136 (GRCm39)	V118A	probably damaging	Het
Usp38	T	C	8: 81,711,717 (GRCm39)	K773E	probably damaging	Het
Wnk1	G	A	6: 119,925,852 (GRCm39)		probably benign	Het
Zfp871	A	G	17: 32,994,842 (GRCm39)	V111A	possibly 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
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'- CAAGTTCTTCAAGACACTGGC -3'
(R):5'- GAGGCCTGGATATTCACAACC -3'

Sequencing Primer
(F):5'- TCTGGAGTTTCACACGGAATACC -3'
(R):5'- TGGATATTCACAACCCTGCC -3'

Posted On

2016-10-24