Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03341:Cpa5'

417213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpa5

Ensembl Gene

ENSMUSG00000029788

Gene Name

carboxypeptidase A5

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL03341

Quality Score

Status

Chromosome

Chromosomal Location

30611010-30631745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30626291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 217 (Y217C)

Ref Sequence

ENSEMBL: ENSMUSP00000126436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062758] [ENSMUST00000115138] [ENSMUST00000115139] [ENSMUST00000165949]

AlphaFold

Q8R4H4

Predicted Effect

probably benign
Transcript: ENSMUST00000062758
AA Change: Y217C

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	117	5.6e-23	PFAM
Zn_pept	139	419	4.83e-125	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115138
AA Change: Y217C

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	118	9.9e-26	PFAM
Zn_pept	139	395	4.62e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115139
AA Change: Y217C

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	118	4.6e-25	PFAM
Zn_pept	139	419	4.83e-125	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165949
AA Change: Y217C

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	118	6.4e-26	PFAM
Zn_pept	139	309	3.6e-19	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed in mouse testes where the encoded protein is localized to the germ cells. 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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	T	2: 35,375,894	V255I	possibly damaging	Het
Acvrl1	T	A	15: 101,137,596	N334K	probably damaging	Het
Arhgef5	T	A	6: 43,280,651	I1284N	probably damaging	Het
Asns	C	A	6: 7,682,002	R236L	probably damaging	Het
Barx2	T	C	9: 31,858,794	E146G	probably damaging	Het
Ccl7	A	G	11: 82,045,835	S18G	probably benign	Het
Cilp	A	T	9: 65,278,002	T460S	probably benign	Het
Dgkh	T	A	14: 78,595,491		probably benign	Het
Dmc1	T	C	15: 79,562,545	T276A	probably benign	Het
Fryl	G	A	5: 73,076,695	P1496S	probably benign	Het
Gstm2	T	C	3: 107,984,205	Y93C	possibly damaging	Het
Hc	A	T	2: 35,003,377	I1274N	probably damaging	Het
Htra1	A	G	7: 130,981,714	I355V	probably benign	Het
Ifi214	G	T	1: 173,526,516	T196K	possibly damaging	Het
Ms4a5	T	C	19: 11,279,378	T52A	probably benign	Het
Mtx3	T	C	13: 92,847,883	F191L	probably damaging	Het
Padi2	A	G	4: 140,927,113	M192V	probably benign	Het
Pdcl3	C	A	1: 38,995,895	Q178K	probably benign	Het
Rap1gap2	G	A	11: 74,435,714	R176W	probably damaging	Het
Ska2	A	G	11: 87,116,164	T32A	probably benign	Het
Slc6a18	G	T	13: 73,677,923	Q3K	probably benign	Het
Slc7a14	T	C	3: 31,238,770	Y122C	probably damaging	Het
Svep1	T	A	4: 58,070,308	K2493*	probably null	Het
Trpm6	T	A	19: 18,813,486	N628K	probably benign	Het
Ttc17	T	A	2: 94,375,221	N260I	probably damaging	Het
Ttc7b	T	C	12: 100,325,735	I193V	possibly damaging	Het
Ttn	T	A	2: 76,712,239	T25141S	possibly damaging	Het
Zfhx4	A	C	3: 5,411,850	Q3150P	probably damaging	Het

Other mutations in Cpa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01757:Cpa5	APN	6	30625927	splice site	probably benign
IGL02577:Cpa5	APN	6	30626808	splice site	probably benign
IGL03148:Cpa5	APN	6	30630437	missense	probably damaging	1.00
R0836:Cpa5	UTSW	6	30623211	missense	probably damaging	1.00
R1437:Cpa5	UTSW	6	30624655	missense	probably damaging	1.00
R2146:Cpa5	UTSW	6	30626822	missense	probably damaging	1.00
R2285:Cpa5	UTSW	6	30615064	missense	probably benign	0.09
R2334:Cpa5	UTSW	6	30624606	nonsense	probably null
R4081:Cpa5	UTSW	6	30631229	missense	probably benign	0.02
R4454:Cpa5	UTSW	6	30626324	missense	possibly damaging	0.84
R4483:Cpa5	UTSW	6	30624626	missense	probably damaging	1.00
R4758:Cpa5	UTSW	6	30615160	missense	possibly damaging	0.67
R4771:Cpa5	UTSW	6	30612685	nonsense	probably null
R4953:Cpa5	UTSW	6	30631364	missense	possibly damaging	0.84
R5053:Cpa5	UTSW	6	30623272	missense	probably damaging	1.00
R5392:Cpa5	UTSW	6	30630830	nonsense	probably null
R5593:Cpa5	UTSW	6	30630849	missense	probably benign	0.10
R5745:Cpa5	UTSW	6	30630437	missense	probably damaging	1.00
R5900:Cpa5	UTSW	6	30615116	missense	probably damaging	1.00
R6264:Cpa5	UTSW	6	30613985	missense	probably damaging	1.00
R6268:Cpa5	UTSW	6	30615173	missense	probably damaging	1.00
R6376:Cpa5	UTSW	6	30614045	missense	probably benign
R6634:Cpa5	UTSW	6	30626364	missense	probably damaging	1.00
R6814:Cpa5	UTSW	6	30614054	missense	probably benign	0.03
R6872:Cpa5	UTSW	6	30614054	missense	probably benign	0.03
R6989:Cpa5	UTSW	6	30625892	missense	probably benign	0.06
R7205:Cpa5	UTSW	6	30630830	missense	probably benign
R7499:Cpa5	UTSW	6	30630857	missense	possibly damaging	0.81
R7864:Cpa5	UTSW	6	30631395	missense	probably damaging	0.97
R8170:Cpa5	UTSW	6	30624595	missense	probably benign	0.35
R9027:Cpa5	UTSW	6	30612605	start codon destroyed	probably null	0.88
R9395:Cpa5	UTSW	6	30631281	missense	probably damaging	1.00
R9607:Cpa5	UTSW	6	30626339	missense	probably damaging	1.00
R9687:Cpa5	UTSW	6	30614042	missense	probably benign
R9794:Cpa5	UTSW	6	30625921	critical splice donor site	probably null

Posted On

2016-08-02