Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02751:Cpa4'

306308

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpa4

Ensembl Gene

ENSMUSG00000039070

Gene Name

carboxypeptidase A4

Synonyms

1110019K20Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02751

Quality Score

Status

Chromosome

Chromosomal Location

30568369-30592418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30581740 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 229 (Y229N)

Ref Sequence

ENSEMBL: ENSMUSP00000048558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049251]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049251
AA Change: Y229N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070
AA Change: Y229N

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Propep_M14	27	101	2.5e-20	PFAM
Zn_pept	122	403	2.3e-140	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases that could be involved in the histone hyperacetylation pathway. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	A	T	14: 66,727,532	I324F	possibly damaging	Het
Ago2	G	A	15: 73,130,897	A162V	possibly damaging	Het
Aox4	G	T	1: 58,259,052	R1059I	probably damaging	Het
AU021092	C	A	16: 5,212,619	V304L	probably damaging	Het
Bcs1l	T	G	1: 74,589,616	F20V	probably damaging	Het
Braf	T	C	6: 39,660,867		probably benign	Het
Cacna1a	T	C	8: 84,569,952	C1200R	probably damaging	Het
Ccdc116	T	A	16: 17,141,972	R284S	probably benign	Het
Cntnap5a	T	G	1: 116,184,457		probably null	Het
Col12a1	A	T	9: 79,613,859		probably benign	Het
Fbp1	A	C	13: 62,875,143		probably null	Het
Gimap3	A	T	6: 48,765,238	W253R	probably benign	Het
Gm1330	G	A	2: 148,990,473		probably benign	Het
Gm4841	A	G	18: 60,271,021		probably benign	Het
Grip1	A	G	10: 119,978,577	T338A	probably benign	Het
Hmg20b	A	T	10: 81,346,551		probably benign	Het
Hnrnpdl	A	G	5: 100,037,974	F151L	probably damaging	Het
Klhl30	T	A	1: 91,354,099	F141I	probably damaging	Het
Lamc3	T	A	2: 31,920,704	F862Y	probably benign	Het
Lap3	T	C	5: 45,504,796	C313R	probably damaging	Het
Lrp2	T	C	2: 69,533,462	T344A	possibly damaging	Het
Mga	A	G	2: 119,947,770	E2023G	possibly damaging	Het
Mical2	A	T	7: 112,332,036	K735N	probably benign	Het
Muc15	A	G	2: 110,731,773	T185A	probably benign	Het
Olfr109	T	C	17: 37,466,415	C70R	probably damaging	Het
Osbp2	T	C	11: 3,863,434	K145R	probably benign	Het
Pde1c	T	C	6: 56,181,688	T52A	probably damaging	Het
Pidd1	A	G	7: 141,439,163	S802P	possibly damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prep	T	A	10: 45,115,186	I316N	probably damaging	Het
Prl3d2	G	A	13: 27,126,031		probably null	Het
Pygo1	A	T	9: 72,945,037	I169F	probably benign	Het
Rnf10	G	T	5: 115,242,666	A716E	probably benign	Het
Rtn4	G	A	11: 29,706,409		probably null	Het
Ryr1	A	T	7: 29,078,774	V2099E	probably damaging	Het
Slc48a1	G	A	15: 97,790,080		probably benign	Het
Spag17	T	A	3: 100,010,794	Y364*	probably null	Het
Syt3	A	T	7: 44,386,062	D31V	possibly damaging	Het
Tango2	G	T	16: 18,307,993	P143H	probably benign	Het
Tas2r104	A	G	6: 131,685,144	S201P	probably damaging	Het
Tas2r107	G	A	6: 131,659,484	L201F	probably damaging	Het
Vmn1r81	A	T	7: 12,260,447	L78Q	probably damaging	Het
Vmn2r18	T	A	5: 151,584,607	T351S	probably benign	Het

Other mutations in Cpa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Cpa4	APN	6	30581702	missense	possibly damaging	0.94
IGL01621:Cpa4	APN	6	30574416	missense	probably damaging	0.97
IGL01712:Cpa4	APN	6	30590816	missense	possibly damaging	0.69
IGL01970:Cpa4	APN	6	30579646	missense	probably benign	0.01
R0029:Cpa4	UTSW	6	30585045	missense	probably damaging	1.00
R0029:Cpa4	UTSW	6	30585045	missense	probably damaging	1.00
R0116:Cpa4	UTSW	6	30579658	missense	probably damaging	1.00
R0546:Cpa4	UTSW	6	30580963	missense	probably damaging	1.00
R2211:Cpa4	UTSW	6	30583650	missense	possibly damaging	0.89
R3849:Cpa4	UTSW	6	30590873	missense	probably damaging	1.00
R4876:Cpa4	UTSW	6	30590815	missense	probably benign	0.01
R4920:Cpa4	UTSW	6	30568463	critical splice donor site	probably null
R6144:Cpa4	UTSW	6	30585083	missense	probably damaging	1.00
R6892:Cpa4	UTSW	6	30583629	missense	probably benign
R7567:Cpa4	UTSW	6	30573890	missense	probably benign	0.03
X0061:Cpa4	UTSW	6	30590963	missense	probably damaging	1.00

Posted On

2015-04-16