Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02632:Cpz'

301351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpz

Ensembl Gene

ENSMUSG00000036596

Gene Name

carboxypeptidase Z

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

IGL02632

Quality Score

Status

Chromosome

Chromosomal Location

35659562-35682970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35669155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 325 (D325E)

Ref Sequence

ENSEMBL: ENSMUSP00000039804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038676]

AlphaFold

Q8R4V4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038676
AA Change: D325E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: D325E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC
FRI	47	167	7.02e-38	SMART
low complexity region	300	313	N/A	INTRINSIC
Zn_pept	314	626	1.32e-44	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	C	8: 41,208,237 (GRCm39)	V501A	possibly damaging	Het
Alpl	T	G	4: 137,481,217 (GRCm39)	N145T	probably damaging	Het
Aqp5	T	A	15: 99,491,216 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,108,181 (GRCm39)	D640V	possibly damaging	Het
Atp5po	T	C	16: 91,725,830 (GRCm39)	E49G	probably benign	Het
Card14	A	G	11: 119,229,730 (GRCm39)	D747G	probably benign	Het
Cfap47	A	T	X: 78,540,279 (GRCm39)	L553H	probably damaging	Het
Crim1	T	C	17: 78,680,103 (GRCm39)	I948T	probably benign	Het
Dpysl3	A	T	18: 43,526,090 (GRCm39)	S2T	possibly damaging	Het
Fat4	T	C	3: 39,056,913 (GRCm39)	V4203A	probably benign	Het
Gapvd1	G	A	2: 34,574,186 (GRCm39)		probably benign	Het
Gpatch2	A	G	1: 186,958,178 (GRCm39)	R155G	probably damaging	Het
Grpr	A	T	X: 162,298,090 (GRCm39)	V318E	probably damaging	Het
Hipk1	T	C	3: 103,667,861 (GRCm39)	T569A	probably benign	Het
Il3ra	G	A	14: 14,350,807 (GRCm38)		probably null	Het
Llgl2	A	G	11: 115,735,698 (GRCm39)	H98R	probably damaging	Het
Loxhd1	A	G	18: 77,493,628 (GRCm39)	D663G	probably damaging	Het
Lrrc71	T	C	3: 87,650,647 (GRCm39)	N205S	probably damaging	Het
Mamdc2	C	T	19: 23,308,340 (GRCm39)	E521K	probably benign	Het
Mapre2	A	G	18: 23,991,217 (GRCm39)	M162V	probably benign	Het
Mettl22	T	C	16: 8,302,117 (GRCm39)		probably benign	Het
Mib2	T	C	4: 155,740,036 (GRCm39)	D739G	probably damaging	Het
Mroh2b	T	C	15: 4,960,583 (GRCm39)	F772S	probably damaging	Het
Mtss1	C	T	15: 58,815,864 (GRCm39)	M565I	probably damaging	Het
Myt1l	T	G	12: 29,964,292 (GRCm39)	S1077A	unknown	Het
Nalcn	T	C	14: 123,555,265 (GRCm39)	T873A	probably benign	Het
Nwd1	T	A	8: 73,394,082 (GRCm39)	H448Q	possibly damaging	Het
Odad2	A	G	18: 7,214,727 (GRCm39)		probably benign	Het
Or14j3	T	C	17: 37,901,232 (GRCm39)	E4G	probably benign	Het
Or51m1	A	G	7: 103,578,914 (GRCm39)	I295V	possibly damaging	Het
Or5j3	T	C	2: 86,128,904 (GRCm39)	V248A	probably damaging	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pdcd2	A	G	17: 15,742,054 (GRCm39)	V292A	probably damaging	Het
Pde2a	A	G	7: 101,153,863 (GRCm39)	Y477C	probably damaging	Het
Pramel16	A	G	4: 143,676,507 (GRCm39)	I199T	possibly damaging	Het
Rcbtb1	T	C	14: 59,462,131 (GRCm39)	L254P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rsl1	A	C	13: 67,330,227 (GRCm39)	H225P	probably damaging	Het
Sec14l2	T	C	11: 4,061,222 (GRCm39)	I80V	probably benign	Het
Sema6a	G	T	18: 47,423,222 (GRCm39)	D261E	probably damaging	Het
Serpinb9b	T	A	13: 33,223,806 (GRCm39)	S333T	probably benign	Het
Slc24a4	T	C	12: 102,200,941 (GRCm39)	V277A	probably benign	Het
Snap91	T	A	9: 86,721,575 (GRCm39)	H88L	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tmprss15	T	A	16: 78,782,790 (GRCm39)	N758I	probably damaging	Het
Ube3b	C	T	5: 114,536,902 (GRCm39)	A300V	probably benign	Het
Vmn2r82	G	A	10: 79,192,542 (GRCm39)	V40I	probably benign	Het
Vsig4	G	T	X: 95,291,378 (GRCm39)	Q265K	probably benign	Het
Wdr91	T	C	6: 34,865,977 (GRCm39)	D525G	probably damaging	Het

Other mutations in Cpz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01673:Cpz	APN	5	35,669,891 (GRCm39)	missense	probably benign
IGL02182:Cpz	APN	5	35,675,066 (GRCm39)	missense	probably damaging	1.00
IGL02290:Cpz	APN	5	35,668,486 (GRCm39)	missense	probably benign	0.00
PIT4810001:Cpz	UTSW	5	35,665,536 (GRCm39)	missense	possibly damaging	0.96
R0334:Cpz	UTSW	5	35,661,025 (GRCm39)	missense	probably damaging	0.99
R0918:Cpz	UTSW	5	35,674,998 (GRCm39)	missense	probably damaging	1.00
R1664:Cpz	UTSW	5	35,664,087 (GRCm39)	missense	probably damaging	1.00
R1666:Cpz	UTSW	5	35,665,460 (GRCm39)	critical splice donor site	probably null
R1733:Cpz	UTSW	5	35,675,102 (GRCm39)	missense	probably damaging	1.00
R1851:Cpz	UTSW	5	35,659,902 (GRCm39)	missense	possibly damaging	0.90
R1920:Cpz	UTSW	5	35,675,012 (GRCm39)	missense	probably damaging	1.00
R1943:Cpz	UTSW	5	35,669,772 (GRCm39)	missense	probably damaging	1.00
R2866:Cpz	UTSW	5	35,659,705 (GRCm39)	missense	probably benign	0.09
R2867:Cpz	UTSW	5	35,659,705 (GRCm39)	missense	probably benign	0.09
R2867:Cpz	UTSW	5	35,659,705 (GRCm39)	missense	probably benign	0.09
R2892:Cpz	UTSW	5	35,668,473 (GRCm39)	missense	probably damaging	1.00
R3795:Cpz	UTSW	5	35,669,093 (GRCm39)	missense	probably benign
R4238:Cpz	UTSW	5	35,659,818 (GRCm39)	missense	probably benign	0.04
R4886:Cpz	UTSW	5	35,664,048 (GRCm39)	missense	probably damaging	1.00
R4948:Cpz	UTSW	5	35,674,748 (GRCm39)	missense	possibly damaging	0.69
R5936:Cpz	UTSW	5	35,659,987 (GRCm39)	missense	probably benign	0.00
R6023:Cpz	UTSW	5	35,669,922 (GRCm39)	missense	probably benign	0.34
R6035:Cpz	UTSW	5	35,674,929 (GRCm39)	missense	probably damaging	1.00
R6035:Cpz	UTSW	5	35,674,929 (GRCm39)	missense	probably damaging	1.00
R7346:Cpz	UTSW	5	35,675,000 (GRCm39)	missense	probably damaging	1.00
R7431:Cpz	UTSW	5	35,668,486 (GRCm39)	missense	probably benign	0.00
R7620:Cpz	UTSW	5	35,669,194 (GRCm39)	missense	possibly damaging	0.82
R9040:Cpz	UTSW	5	35,672,835 (GRCm39)	missense	possibly damaging	0.77
R9103:Cpz	UTSW	5	35,675,054 (GRCm39)	missense	probably benign	0.00
Z1177:Cpz	UTSW	5	35,669,105 (GRCm39)	nonsense	probably null

Posted On

2015-04-16