Mutagenetix > Incidental Mutation

Incidental Mutation 'R5745:Cpa5'

445745

Institutional Source

Beutler Lab

Gene Symbol

Cpa5

Ensembl Gene

ENSMUSG00000029788

Gene Name

carboxypeptidase A5

Synonyms

MMRRC Submission

043198-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30611010-30631745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30630437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 330 (M330K)

Ref Sequence

ENSEMBL: ENSMUSP00000110792 (fasta)

Gene Model

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

AlphaFold

Q8R4H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000062758
AA Change: M330K

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

SMART Domains

Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: M330K

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 damaging
Transcript: ENSMUST00000115138
AA Change: M330K

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

SMART Domains

Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: M330K

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 damaging
Transcript: ENSMUST00000115139
AA Change: M330K

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

SMART Domains

Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: M330K

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

probably benign
Transcript: ENSMUST00000165949
AA Change: C286S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: C286S

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,073	R74W	probably damaging	Het
4933407L21Rik	T	G	1: 85,931,274		probably null	Het
Adcy8	A	T	15: 64,920,471	I212N	possibly damaging	Het
Cobll1	T	C	2: 65,098,457	T879A	probably damaging	Het
Copb2	T	C	9: 98,574,111	S233P	probably damaging	Het
Dgcr8	A	T	16: 18,280,443	N361K	probably benign	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dock8	T	A	19: 25,130,397	N830K	probably benign	Het
Ephb1	C	T	9: 102,195,434	D49N	probably benign	Het
Fam19a1	G	A	6: 96,649,185	R128Q	probably damaging	Het
Fer1l6	A	G	15: 58,571,389	I514V	probably benign	Het
Fpr1	A	G	17: 17,877,082	I215T	probably benign	Het
Hectd4	G	A	5: 121,353,502	V3668M	possibly damaging	Het
Ighv3-4	T	A	12: 114,253,768	I68L	probably benign	Het
Intu	A	G	3: 40,692,972		probably null	Het
Kel	C	T	6: 41,699,027	G243E	probably damaging	Het
Mycbp2	A	C	14: 103,156,453	S2781A	possibly damaging	Het
Myom2	T	A	8: 15,122,705	S1211T	probably benign	Het
Nrp1	A	T	8: 128,468,448	I462F	probably benign	Het
Olfr787	T	A	10: 129,463,438	I254N	probably damaging	Het
Olfr958	T	C	9: 39,550,691	Y60C	probably damaging	Het
Pcsk1	A	C	13: 75,131,960	S635R	probably benign	Het
Pms1	A	T	1: 53,207,702	Y280*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,920		probably benign	Het
Sema3b	C	A	9: 107,601,429	A356S	probably damaging	Het
Shoc2	C	A	19: 54,029,892	T485K	probably benign	Het
Slc7a7	G	A	14: 54,377,835	S235L	possibly damaging	Het
Smcr8	A	T	11: 60,784,151	T918S	probably benign	Het
Tle3	C	A	9: 61,414,851	F719L	probably damaging	Het
Vmn2r45	T	A	7: 8,483,075	I405L	probably benign	Het
Vmn2r57	A	T	7: 41,448,471	H57Q	possibly 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
IGL03341:Cpa5	APN	6	30626291	missense	possibly damaging	0.57
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGGGCACTTTAATCCACTG -3'
(R):5'- GGGAACAACTCTACTGATTCTTCC -3'

Sequencing Primer
(F):5'- CACTGGGTGGTTTTATTTTGCTTCC -3'
(R):5'- ACTGATTCTTCCTACCATGGAC -3'

Posted On

2016-11-21