Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Cpa4'

239367

Institutional Source

Beutler Lab

Gene Symbol

Cpa4

Ensembl Gene

ENSMUSG00000039070

Gene Name

carboxypeptidase A4

Synonyms

1110019K20Rik

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30568368-30592417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30583649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 255 (N255S)

Ref Sequence

ENSEMBL: ENSMUSP00000048558 (fasta)

Gene Model

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

AlphaFold

Q6P8K8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049251
AA Change: N255S

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070
AA Change: N255S

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,118,171 (GRCm39)	S34P	probably damaging	Het
Adam23	T	A	1: 63,612,288 (GRCm39)		probably benign	Het
Adcy10	A	T	1: 165,345,781 (GRCm39)	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,467,993 (GRCm39)	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,886,451 (GRCm39)	M242K	possibly damaging	Het
Arhgef18	T	C	8: 3,437,680 (GRCm39)	S268P	possibly damaging	Het
Astn1	A	G	1: 158,484,876 (GRCm39)	R4G	probably benign	Het
AU041133	G	A	10: 81,986,755 (GRCm39)	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,268,288 (GRCm39)	V53A	probably benign	Het
Cdh23	T	C	10: 60,301,783 (GRCm39)	D428G	possibly damaging	Het
Cebpa	T	C	7: 34,819,891 (GRCm39)	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,279 (GRCm39)	M152V	probably null	Het
Ddx51	T	A	5: 110,803,634 (GRCm39)	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,518,932 (GRCm39)	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,397,286 (GRCm39)	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Edem3	A	G	1: 151,680,453 (GRCm39)	D526G	possibly damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Etaa1	G	A	11: 17,902,686 (GRCm39)	Q84*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam149a	G	A	8: 45,794,046 (GRCm39)	T674I	probably damaging	Het
Fam98a	A	G	17: 75,845,940 (GRCm39)		probably null	Het
Fat4	A	G	3: 38,945,676 (GRCm39)	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,758,361 (GRCm39)	T529A	probably damaging	Het
Gzf1	C	T	2: 148,526,870 (GRCm39)	A447V	probably damaging	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hic1	T	A	11: 75,060,210 (GRCm39)	R46W	possibly damaging	Het
Id4	T	A	13: 48,415,278 (GRCm39)	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029 (GRCm38)	C271R	probably benign	Het
Ints4	T	C	7: 97,158,957 (GRCm39)	I443T	possibly damaging	Het
Lmln	A	G	16: 32,930,148 (GRCm39)	E535G	probably benign	Het
Lrrtm4	A	G	6: 79,999,623 (GRCm39)	H345R	probably benign	Het
Ltbp3	T	C	19: 5,803,990 (GRCm39)	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Ms4a18	C	A	19: 10,974,669 (GRCm39)	V341L	probably benign	Het
Nbr1	T	C	11: 101,458,090 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,334,890 (GRCm39)	M914T	probably benign	Het
Notch3	T	A	17: 32,366,952 (GRCm39)	H861L	probably benign	Het
Nup58	A	G	14: 60,470,089 (GRCm39)	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,250,843 (GRCm39)		probably null	Het
Oit3	T	C	10: 59,263,892 (GRCm39)	D414G	probably damaging	Het
Or6c5c	A	T	10: 129,298,809 (GRCm39)	K88M	probably damaging	Het
Or6c6c	A	G	10: 129,541,320 (GRCm39)	H191R	probably benign	Het
Or8k32	T	C	2: 86,368,857 (GRCm39)	Y132C	probably damaging	Het
Or9q2	T	A	19: 13,772,733 (GRCm39)	M81L	probably benign	Het
Pals1	A	T	12: 78,844,022 (GRCm39)	K75N	possibly damaging	Het
Pcbp4	C	A	9: 106,337,933 (GRCm39)	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,356,214 (GRCm39)	D241E	probably damaging	Het
Plcb2	T	C	2: 118,554,015 (GRCm39)	D102G	probably benign	Het
Plekha5	G	A	6: 140,471,587 (GRCm39)	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,631,601 (GRCm39)	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,343,650 (GRCm39)	S585L	probably benign	Het
Rarg	T	C	15: 102,147,959 (GRCm39)	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Rp1	A	C	1: 4,418,362 (GRCm39)	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsph3b	T	C	17: 7,209,139 (GRCm39)	S189G	probably benign	Het
Sec31b	A	T	19: 44,511,589 (GRCm39)	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,431,741 (GRCm39)	I641F	probably benign	Het
Slc35f5	A	T	1: 125,507,001 (GRCm39)	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,597,325 (GRCm39)	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,753 (GRCm39)	S432P	probably benign	Het
Spsb3	T	C	17: 25,109,911 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,067,034 (GRCm39)	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,689,645 (GRCm39)	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,465,193 (GRCm39)	C307*	probably null	Het
Trim43b	T	A	9: 88,967,302 (GRCm39)	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,388,403 (GRCm39)	I11T	probably benign	Het
Ylpm1	A	T	12: 85,091,152 (GRCm39)	R1073*	probably null	Het
Zfp524	T	C	7: 5,020,918 (GRCm39)	S149P	probably damaging	Het
Zfp777	T	C	6: 48,020,819 (GRCm39)	I312V	possibly 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
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
R4920:Cpa4	UTSW	6	30,568,462 (GRCm39)	critical splice donor site	probably null
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'- AGATGTACTGTTCCCCAGCAC -3'
(R):5'- CAGGGATTACTGGCTCAATCC -3'

Sequencing Primer
(F):5'- AGCACCCCCAAGTGAGG -3'
(R):5'- AGGGATTACTGGCTCAATCCTTTTC -3'

Posted On

2014-10-15