Mutagenetix > Incidental Mutation

Incidental Mutation 'R8302:Cpa3'

646439

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

067790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20269784-20296345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20276316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 306 (Y306H)

Ref Sequence

ENSEMBL: ENSMUSP00000001921 (fasta)

Gene Model

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

AlphaFold

P15089

Predicted Effect

probably damaging
Transcript: ENSMUST00000001921
AA Change: Y306H

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

SMART Domains

Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: Y306H

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: 98.7%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,853,406 (GRCm39)		probably null	Het
Ank3	T	C	10: 69,840,810 (GRCm39)	S1937P	possibly damaging	Het
Atg5	T	A	10: 44,162,115 (GRCm39)	D10E	probably benign	Het
Car12	A	G	9: 66,654,879 (GRCm39)	D103G	probably benign	Het
Cyp2c40	A	G	19: 39,796,066 (GRCm39)	V104A	probably damaging	Het
Cyp2c66	A	T	19: 39,165,078 (GRCm39)	H353L	probably damaging	Het
Cyp2d22	A	G	15: 82,256,021 (GRCm39)		probably null	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Exph5	A	G	9: 53,287,776 (GRCm39)	E1619G	possibly damaging	Het
Frmd5	T	A	2: 121,378,060 (GRCm39)	T435S	unknown	Het
Gm3371	T	C	14: 44,641,181 (GRCm39)	R128G		Het
Gper1	A	G	5: 139,412,030 (GRCm39)	D125G	probably benign	Het
Il17re	C	A	6: 113,443,280 (GRCm39)	S340*	probably null	Het
Kazald1	T	A	19: 45,065,278 (GRCm39)	L53Q	probably damaging	Het
Kdm3b	A	T	18: 34,967,388 (GRCm39)	H1731L	probably damaging	Het
Kif20a	T	C	18: 34,765,030 (GRCm39)	S755P	probably damaging	Het
Lrch1	T	C	14: 75,032,772 (GRCm39)	N526S	probably benign	Het
Map3k8	T	C	18: 4,334,064 (GRCm39)	I343V	probably damaging	Het
Nabp1	A	T	1: 51,511,498 (GRCm39)	F140L	probably benign	Het
Ncor1	A	G	11: 62,224,681 (GRCm39)	S860P	probably benign	Het
Ndufaf5	T	A	2: 140,030,698 (GRCm39)	Y195N	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,056 (GRCm39)	L157P	probably damaging	Het
Or2aj5	T	A	16: 19,425,116 (GRCm39)	I100L	probably benign	Het
Or4c104	T	A	2: 88,586,987 (GRCm39)	I11F	possibly damaging	Het
Or5ak24	T	A	2: 85,260,430 (GRCm39)	T248S	possibly damaging	Het
Pcdh10	A	G	3: 45,335,933 (GRCm39)	Y749C	probably damaging	Het
Plcz1	T	A	6: 139,974,163 (GRCm39)	K93I	probably damaging	Het
Plpbp	T	C	8: 27,539,216 (GRCm39)	S109P		Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Psma6	A	T	12: 55,456,966 (GRCm39)	Y103F	probably benign	Het
Ptpn3	A	G	4: 57,218,514 (GRCm39)	F650L	probably benign	Het
Pxk	T	C	14: 8,164,094 (GRCm38)	F562S	probably damaging	Het
Rbl2	A	G	8: 91,812,073 (GRCm39)	D214G	probably damaging	Het
Rgs17	C	T	10: 5,812,525 (GRCm39)	C58Y	possibly damaging	Het
Rnf6	A	T	5: 146,148,334 (GRCm39)	V228E	probably benign	Het
Sardh	T	C	2: 27,105,122 (GRCm39)	D667G	probably benign	Het
Slc12a1	T	A	2: 125,032,209 (GRCm39)	V620D	probably damaging	Het
Slc39a7	A	G	17: 34,249,686 (GRCm39)	I153T	probably damaging	Het
Slc5a11	T	C	7: 122,847,162 (GRCm39)	V125A	probably damaging	Het
Slc9c1	T	C	16: 45,368,058 (GRCm39)	F216L	probably benign	Het
Strip1	A	T	3: 107,533,024 (GRCm39)	I208N	probably damaging	Het
Top1	T	C	2: 160,545,496 (GRCm39)	M288T	probably damaging	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trmt2a	T	C	16: 18,067,813 (GRCm39)	V162A	probably damaging	Het
Wdr35	T	C	12: 9,078,110 (GRCm39)	I1167T	probably benign	Het
Wdr76	C	A	2: 121,341,044 (GRCm39)	H30N	probably benign	Het
Zan	A	G	5: 137,407,923 (GRCm39)	S3624P	unknown	Het
Zc3h7a	T	C	16: 10,955,249 (GRCm39)	K942E	probably damaging	Het
Zfp292	A	G	4: 34,810,893 (GRCm39)	V722A	possibly damaging	Het
Zfp943	A	G	17: 22,211,091 (GRCm39)	H59R	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
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
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'- CCAGTTCAGCACACTTCAAAGTTG -3'
(R):5'- ACATTCTGATCCCATCCACG -3'

Sequencing Primer
(F):5'- CAGCACACTTCAAAGTTGATATATTG -3'
(R):5'- GATCCCATCCACGTTTCTTCTGTAG -3'

Posted On

2020-09-02