Mutagenetix > Incidental Mutation

Incidental Mutation 'R4920:Cpa4'

378513

Institutional Source

Beutler Lab

Gene Symbol

Cpa4

Ensembl Gene

ENSMUSG00000039070

Gene Name

carboxypeptidase A4

Synonyms

1110019K20Rik

MMRRC Submission

042522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4920 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

30568368-30592417 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 30568462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049251] [ENSMUST00000096066]

AlphaFold

Q6P8K8

Predicted Effect

probably null
Transcript: ENSMUST00000049251

SMART Domains

Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096066

SMART Domains

Protein: ENSMUSP00000093771
Gene: ENSMUSG00000071553

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Propep_M14	26	100	3.5e-25	PFAM
Zn_pept	121	400	3.4e-143	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144282

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

96% (55/57)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092K14Rik	A	T	11: 114,089,871 (GRCm39)		noncoding transcript	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Apbb1ip	A	G	2: 22,709,696 (GRCm39)	D51G	unknown	Het
Bmal1	A	G	7: 112,884,321 (GRCm39)	T120A	probably damaging	Het
Brca1	A	T	11: 101,415,785 (GRCm39)	V783D	probably damaging	Het
Ccdc141	T	C	2: 76,998,907 (GRCm39)	D58G	probably damaging	Het
Ccr9	G	T	9: 123,608,504 (GRCm39)	G62V	probably damaging	Het
Ces2b	T	C	8: 105,563,538 (GRCm39)	Y422H	probably benign	Het
Dennd3	A	G	15: 73,412,574 (GRCm39)	H412R	probably benign	Het
Dpy19l3	A	T	7: 35,407,467 (GRCm39)		probably benign	Het
Dtwd2	G	T	18: 49,831,507 (GRCm39)	R167S	possibly damaging	Het
Dync1i2	G	A	2: 71,077,668 (GRCm39)	R243Q	probably damaging	Het
Ear2	G	A	14: 44,340,582 (GRCm39)	G80E	probably damaging	Het
Fam171b	A	G	2: 83,710,703 (GRCm39)	K792E	possibly damaging	Het
Fam83b	G	A	9: 76,399,150 (GRCm39)	T651I	probably benign	Het
Fcrl5	T	G	3: 87,351,480 (GRCm39)	F243V	probably damaging	Het
Galntl6	T	C	8: 58,880,807 (GRCm39)	I115M	probably damaging	Het
Glrx3	A	G	7: 137,065,859 (GRCm39)	D163G	probably null	Het
Gm14488	A	T	2: 30,605,044 (GRCm39)		noncoding transcript	Het
Gm973	T	C	1: 59,666,725 (GRCm39)	S683P	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Gsdmd	T	C	15: 75,736,206 (GRCm39)	S112P	probably damaging	Het
Ighv14-3	A	G	12: 114,023,877 (GRCm39)	V6A	probably benign	Het
Lca5l	T	A	16: 95,980,035 (GRCm39)	S32C	probably damaging	Het
Lrba	T	A	3: 86,571,765 (GRCm39)	Y260*	probably null	Het
Lyst	T	C	13: 13,821,645 (GRCm39)	S1340P	possibly damaging	Het
Mfsd13a	T	G	19: 46,355,655 (GRCm39)	F59V	probably damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Noa1	T	C	5: 77,454,334 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Pgm1	C	T	4: 99,843,930 (GRCm39)	T571M	probably damaging	Het
Pramel23	T	C	4: 143,425,853 (GRCm39)	D30G	probably benign	Het
Rfc1	C	A	5: 65,445,271 (GRCm39)	V460F	probably damaging	Het
Rrn3	A	G	16: 13,608,503 (GRCm39)	D182G	probably benign	Het
Sap25	T	A	5: 137,640,507 (GRCm39)		probably benign	Het
Slc9a2	A	G	1: 40,794,878 (GRCm39)	I480V	probably benign	Het
Smo	T	C	6: 29,759,593 (GRCm39)	S642P	probably damaging	Het
Tbc1d22a	A	C	15: 86,195,949 (GRCm39)	I307L	probably benign	Het
Tent2	G	A	13: 93,322,833 (GRCm39)	Q39*	probably null	Het
Ubr3	A	G	2: 69,783,212 (GRCm39)	Q716R	probably benign	Het
Vmn2r96	A	G	17: 18,802,918 (GRCm39)	E276G	probably benign	Het
Zfp189	G	A	4: 49,529,302 (GRCm39)	C135Y	probably damaging	Het

Other mutations in Cpa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Cpa4	APN	6	30,581,701 (GRCm39)	missense	possibly damaging	0.94
IGL01621:Cpa4	APN	6	30,574,415 (GRCm39)	missense	probably damaging	0.97
IGL01712:Cpa4	APN	6	30,590,815 (GRCm39)	missense	possibly damaging	0.69
IGL01970:Cpa4	APN	6	30,579,645 (GRCm39)	missense	probably benign	0.01
IGL02751:Cpa4	APN	6	30,581,739 (GRCm39)	missense	probably damaging	1.00
R0029:Cpa4	UTSW	6	30,585,044 (GRCm39)	missense	probably damaging	1.00
R0029:Cpa4	UTSW	6	30,585,044 (GRCm39)	missense	probably damaging	1.00
R0116:Cpa4	UTSW	6	30,579,657 (GRCm39)	missense	probably damaging	1.00
R0546:Cpa4	UTSW	6	30,580,962 (GRCm39)	missense	probably damaging	1.00
R2211:Cpa4	UTSW	6	30,583,649 (GRCm39)	missense	possibly damaging	0.89
R3849:Cpa4	UTSW	6	30,590,872 (GRCm39)	missense	probably damaging	1.00
R4876:Cpa4	UTSW	6	30,590,814 (GRCm39)	missense	probably benign	0.01
R6144:Cpa4	UTSW	6	30,585,082 (GRCm39)	missense	probably damaging	1.00
R6892:Cpa4	UTSW	6	30,583,628 (GRCm39)	missense	probably benign
R7567:Cpa4	UTSW	6	30,573,889 (GRCm39)	missense	probably benign	0.03
R7763:Cpa4	UTSW	6	30,583,644 (GRCm39)	missense	probably damaging	1.00
R8033:Cpa4	UTSW	6	30,590,799 (GRCm39)	missense	probably benign
R8679:Cpa4	UTSW	6	30,585,158 (GRCm39)	missense	probably damaging	1.00
R9094:Cpa4	UTSW	6	30,574,393 (GRCm39)	missense	possibly damaging	0.94
R9566:Cpa4	UTSW	6	30,579,608 (GRCm39)	missense	probably benign
X0061:Cpa4	UTSW	6	30,590,962 (GRCm39)	missense	probably damaging	1.00
Z1177:Cpa4	UTSW	6	30,574,402 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GCCTTCATCACTGGAAAGGAATG -3'
(R):5'- AGACCACCAGCTTTGATTTCAC -3'

Sequencing Primer
(F):5'- CTGCCTTGTCAGAGCTGGAAG -3'
(R):5'- CACCAGCTTTGATTTCACAGGAG -3'

Posted On

2016-04-15