Mutagenetix > Incidental Mutation

Incidental Mutation 'R6023:Cpz'

479027

Institutional Source

Beutler Lab

Gene Symbol

Cpz

Ensembl Gene

ENSMUSG00000036596

Gene Name

carboxypeptidase Z

Synonyms

MMRRC Submission

044195-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R6023 (G1)

Quality Score

175.009

Status

Validated

Chromosome

Chromosomal Location

35659562-35682970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35669922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 252 (I252F)

Ref Sequence

ENSEMBL: ENSMUSP00000039804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038676] [ENSMUST00000132959]

AlphaFold

Q8R4V4

Predicted Effect

probably benign
Transcript: ENSMUST00000038676
AA Change: I252F

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: I252F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132959

SMART Domains

Protein: ENSMUSP00000123537
Gene: ENSMUSG00000036596

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	23	34	N/A	INTRINSIC
Pfam:Fz	37	102	4.7e-9	PFAM

Meta Mutation Damage Score

0.4052

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,843 (GRCm39)	N1302S	possibly damaging	Het
Aff3	A	T	1: 38,257,451 (GRCm39)	S424T	probably damaging	Het
Ap2b1	C	T	11: 83,226,224 (GRCm39)	T207M	probably damaging	Het
Appl2	T	C	10: 83,484,393 (GRCm39)	Q18R	probably null	Het
Atrn	T	C	2: 130,862,900 (GRCm39)	F1327L	probably benign	Het
Birc6	A	T	17: 74,961,372 (GRCm39)	I47F	probably benign	Het
Cdh23	A	T	10: 60,301,321 (GRCm39)	I451N	probably damaging	Het
Clec3a	A	G	8: 115,144,883 (GRCm39)	T20A	possibly damaging	Het
Ctc1	A	G	11: 68,913,433 (GRCm39)	D143G	probably benign	Het
Dhrs1	A	T	14: 55,981,127 (GRCm39)	Y94*	probably null	Het
Dnajc25	A	G	4: 59,013,752 (GRCm39)	K157E	possibly damaging	Het
Dpp6	T	C	5: 27,928,545 (GRCm39)	I789T	probably damaging	Het
Duox1	T	G	2: 122,168,165 (GRCm39)	F1097V	probably benign	Het
Ercc8	A	G	13: 108,315,111 (GRCm39)	T242A	probably damaging	Het
Evc2	T	A	5: 37,505,960 (GRCm39)	M93K	probably benign	Het
Glra1	A	T	11: 55,424,679 (GRCm39)	V94E	probably damaging	Het
Got1l1	A	T	8: 27,689,932 (GRCm39)	Y151*	probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Ighv1-72	T	A	12: 115,721,532 (GRCm39)		probably benign	Het
Kel	C	A	6: 41,674,409 (GRCm39)	E340D	probably benign	Het
Kif11	A	G	19: 37,379,158 (GRCm39)	E283G	probably damaging	Het
Klk4	T	G	7: 43,533,482 (GRCm39)	F114V	probably benign	Het
Krt7	T	C	15: 101,310,278 (GRCm39)		probably benign	Het
Lrrc74a	A	G	12: 86,805,380 (GRCm39)	I401V	probably damaging	Het
Luzp2	T	C	7: 54,707,815 (GRCm39)	S68P	possibly damaging	Het
Naip1	T	C	13: 100,562,694 (GRCm39)	T824A	probably benign	Het
Nav3	T	C	10: 109,659,376 (GRCm39)	Q747R	possibly damaging	Het
Or13p4	T	A	4: 118,547,271 (GRCm39)	Y126F	probably damaging	Het
Or1j11	A	G	2: 36,311,523 (GRCm39)	T38A	probably damaging	Het
Or4c107	A	G	2: 88,789,059 (GRCm39)	D83G	possibly damaging	Het
Or51f1	T	C	7: 102,506,169 (GRCm39)	I107V	possibly damaging	Het
Or52h2	T	C	7: 103,838,880 (GRCm39)	H178R	probably damaging	Het
Or5b120	A	G	19: 13,480,067 (GRCm39)	D120G	probably damaging	Het
Or7g22	A	C	9: 19,049,021 (GRCm39)	H244P	probably damaging	Het
Pcdhb11	T	C	18: 37,555,978 (GRCm39)	I436T	possibly damaging	Het
Pfdn2	T	C	1: 171,184,319 (GRCm39)	Y65H	probably damaging	Het
Polr2h	T	C	16: 20,537,776 (GRCm39)	Y58H	probably benign	Het
Prrt4	G	A	6: 29,176,452 (GRCm39)	P291L	probably benign	Het
Psg29	G	T	7: 16,944,437 (GRCm39)	V316L	possibly damaging	Het
Rnf112	T	A	11: 61,340,555 (GRCm39)	E525V	probably damaging	Het
Sgms1	T	C	19: 32,101,773 (GRCm39)	K411R	probably benign	Het
Sh3tc1	T	A	5: 35,864,295 (GRCm39)	K631*	probably null	Het
Syne1	T	C	10: 5,393,223 (GRCm39)	M48V	probably benign	Het
Thrb	C	T	14: 18,011,209 (GRCm38)	T226I	probably damaging	Het
Trim67	A	T	8: 125,541,843 (GRCm39)	D347V	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	G	T	2: 76,565,744 (GRCm39)	L19876I	probably damaging	Het
Vars1	C	T	17: 35,220,585 (GRCm39)	R56C	probably damaging	Het
Vmn1r9	A	G	6: 57,048,239 (GRCm39)	I105V	probably benign	Het
Vps8	C	A	16: 21,279,988 (GRCm39)	T313K	probably benign	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
IGL02632:Cpz	APN	5	35,669,155 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- AGGATGCAGCCCTTCTGAAG -3'
(R):5'- CACGGGCCATAGATGTCAATAG -3'

Sequencing Primer
(F):5'- TTCTGAAGGCAGCGGGAACTC -3'
(R):5'- GCCATAGATGTCAATAGAAGTCAC -3'

Posted On

2017-06-26