Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Cpz'

556837

Institutional Source

Beutler Lab

Gene Symbol

Cpz

Ensembl Gene

ENSMUSG00000036596

Gene Name

carboxypeptidase Z

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

PIT4810001 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

35659562-35682970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35665536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 435 (E435G)

Ref Sequence

ENSEMBL: ENSMUSP00000039804 (fasta)

Gene Model

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

AlphaFold

Q8R4V4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038676
AA Change: E435G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: E435G

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

1x: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Aplnr	T	A	2: 84,967,628 (GRCm39)	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Cars2	A	T	8: 11,564,699 (GRCm39)	C459S	probably benign	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Crbn	T	A	6: 106,761,440 (GRCm39)	R233*	probably null	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Rbms3	T	A	9: 116,885,861 (GRCm39)	Y128F	probably damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc22a18	A	G	7: 143,046,668 (GRCm39)	I271V	probably benign	Het
Slc25a41	A	G	17: 57,346,933 (GRCm39)	V20A	possibly damaging	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Uba5	A	T	9: 103,932,396 (GRCm39)	I189K	probably damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	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
IGL02632:Cpz	APN	5	35,669,155 (GRCm39)	missense	possibly damaging	0.95
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

Predicted Primers

PCR Primer
(F):5'- AGGACCAGTCATCCCAGTTC -3'
(R):5'- GGAACATGGGATGATAGCTCC -3'

Sequencing Primer
(F):5'- CCCCTTCTCCAGGCAGATG -3'
(R):5'- CATGGGATGATAGCTCCAAGGC -3'

Posted On

2019-06-07