Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01025:Cpd'

60232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpd

Ensembl Gene

ENSMUSG00000020841

Gene Name

carboxypeptidase D

Synonyms

D830034L15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

IGL01025

Quality Score

Status

Chromosome

Chromosomal Location

76669250-76737844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76686439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 963 (R963H)

Ref Sequence

ENSEMBL: ENSMUSP00000021201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021201]

AlphaFold

O89001

Predicted Effect

probably damaging
Transcript: ENSMUST00000021201
AA Change: R963H

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

SMART Domains

Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: R963H

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Zn_pept	62	471	1.71e-52	SMART
Zn_pept	502	900	2.11e-66	SMART
Zn_pept	930	1195	1.11e-42	SMART
Pfam:CarboxypepD_reg	1211	1284	3.6e-10	PFAM
transmembrane domain	1297	1319	N/A	INTRINSIC
low complexity region	1363	1371	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151584

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	A	4: 155,986,676 (GRCm39)	V335M	probably damaging	Het
Apex1	C	T	14: 51,163,711 (GRCm39)	L113F	possibly damaging	Het
Bltp1	T	A	3: 37,100,429 (GRCm39)	H1218Q	possibly damaging	Het
Cd33	C	T	7: 43,182,329 (GRCm39)	V39M	probably damaging	Het
Chek2	A	G	5: 110,996,536 (GRCm39)	D166G	probably damaging	Het
Col2a1	T	C	15: 97,874,054 (GRCm39)	K1376R	unknown	Het
Cracd	A	G	5: 76,805,921 (GRCm39)		probably benign	Het
Cyp2c67	A	C	19: 39,628,376 (GRCm39)	Y189*	probably null	Het
Dock6	T	C	9: 21,723,103 (GRCm39)	E1606G	possibly damaging	Het
Dusp4	A	T	8: 35,285,666 (GRCm39)	E309V	probably benign	Het
Dync2h1	A	G	9: 7,162,789 (GRCm39)	I600T	probably damaging	Het
Fer1l4	A	G	2: 155,894,105 (GRCm39)	V66A	probably benign	Het
Fktn	T	C	4: 53,737,568 (GRCm39)	L269P	possibly damaging	Het
Ftsj3	A	G	11: 106,141,185 (GRCm39)	I645T	probably damaging	Het
Fxr2	A	G	11: 69,534,713 (GRCm39)	H198R	probably damaging	Het
Fzd7	T	C	1: 59,523,539 (GRCm39)	V474A	probably damaging	Het
Gm10295	T	A	7: 71,000,406 (GRCm39)	D58V	unknown	Het
Hdlbp	T	C	1: 93,357,891 (GRCm39)	I337V	probably benign	Het
Hydin	T	C	8: 111,053,033 (GRCm39)	V235A	probably benign	Het
Igfbp4	C	T	11: 98,939,069 (GRCm39)	H30Y	probably damaging	Het
Kcna4	T	C	2: 107,126,736 (GRCm39)	V490A	probably damaging	Het
Kcnj13	T	G	1: 87,314,700 (GRCm39)	D174A	probably benign	Het
Krt7	T	A	15: 101,321,302 (GRCm39)	L373Q	probably benign	Het
Lama3	G	A	18: 12,614,094 (GRCm39)	V1288I	probably benign	Het
Mroh9	T	C	1: 162,875,435 (GRCm39)	D488G	possibly damaging	Het
Myh7	T	C	14: 55,216,994 (GRCm39)	E1121G	probably damaging	Het
Myom1	A	G	17: 71,384,912 (GRCm39)	N768D	probably damaging	Het
Naa16	T	C	14: 79,622,196 (GRCm39)	T48A	probably damaging	Het
Naglu	C	T	11: 100,964,773 (GRCm39)	P287S	probably benign	Het
Nipbl	A	G	15: 8,379,939 (GRCm39)	V951A	possibly damaging	Het
Nlrp3	T	A	11: 59,442,713 (GRCm39)	M755K	probably benign	Het
Nlrp4e	T	C	7: 23,052,586 (GRCm39)		probably benign	Het
Nt5dc1	C	T	10: 34,283,553 (GRCm39)	A79T	possibly damaging	Het
Or10aa3	T	C	1: 173,878,251 (GRCm39)	F104S	probably damaging	Het
Or6c205	A	T	10: 129,086,609 (GRCm39)	I69F	possibly damaging	Het
Or8b47	A	G	9: 38,435,029 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,541,597 (GRCm39)	L774P	possibly damaging	Het
Phf20l1	C	T	15: 66,484,981 (GRCm39)	R322C	probably damaging	Het
Pkhd1	C	T	1: 20,279,400 (GRCm39)	G2973R	probably benign	Het
Plekhg5	G	T	4: 152,192,983 (GRCm39)	D613Y	probably damaging	Het
Ppm1h	T	A	10: 122,714,534 (GRCm39)		probably null	Het
Pramel31	T	A	4: 144,089,947 (GRCm39)	L329Q	probably damaging	Het
Prpf39	T	C	12: 65,089,255 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,460,406 (GRCm39)	S15P	unknown	Het
Slc22a28	G	T	19: 8,094,272 (GRCm39)		probably benign	Het
Slc4a5	T	A	6: 83,239,515 (GRCm39)	L143Q	probably damaging	Het
Sox17	T	C	1: 4,562,426 (GRCm39)	D130G	possibly damaging	Het
Stag1	A	G	9: 100,833,710 (GRCm39)	T1108A	possibly damaging	Het
Sugp2	G	A	8: 70,695,185 (GRCm39)	D53N	probably damaging	Het
Trim33	G	A	3: 103,261,234 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,629,568 (GRCm39)	I14291T	probably damaging	Het
Ttn	A	G	2: 76,619,869 (GRCm39)	V15933A	probably damaging	Het
Tulp3	A	C	6: 128,302,847 (GRCm39)	I324S	probably damaging	Het
Zfhx2	T	C	14: 55,301,717 (GRCm39)	E2089G	probably damaging	Het
Zhx1	T	C	15: 57,918,075 (GRCm39)	D57G	probably benign	Het

Other mutations in Cpd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Cpd	APN	11	76,688,615 (GRCm39)	missense	probably benign	0.00
IGL00698:Cpd	APN	11	76,731,270 (GRCm39)	missense	possibly damaging	0.82
IGL01292:Cpd	APN	11	76,737,071 (GRCm39)	missense	possibly damaging	0.80
IGL01571:Cpd	APN	11	76,673,122 (GRCm39)	missense	probably damaging	1.00
IGL01606:Cpd	APN	11	76,703,466 (GRCm39)	missense	probably benign
IGL02283:Cpd	APN	11	76,731,251 (GRCm39)	missense	probably benign	0.19
IGL02895:Cpd	APN	11	76,676,029 (GRCm39)	missense	probably benign	0.06
IGL02965:Cpd	APN	11	76,681,814 (GRCm39)	splice site	probably benign
IGL03116:Cpd	APN	11	76,702,539 (GRCm39)	missense	probably damaging	1.00
IGL03178:Cpd	APN	11	76,696,877 (GRCm39)	missense	probably benign	0.02
PIT4280001:Cpd	UTSW	11	76,681,850 (GRCm39)	missense	probably benign	0.23
PIT4382001:Cpd	UTSW	11	76,688,614 (GRCm39)	missense	probably benign
R0050:Cpd	UTSW	11	76,683,685 (GRCm39)	missense	possibly damaging	0.94
R0054:Cpd	UTSW	11	76,681,664 (GRCm39)	missense	probably damaging	1.00
R0054:Cpd	UTSW	11	76,681,664 (GRCm39)	missense	probably damaging	1.00
R0320:Cpd	UTSW	11	76,731,273 (GRCm39)	missense	possibly damaging	0.50
R0416:Cpd	UTSW	11	76,676,030 (GRCm39)	missense	probably benign	0.13
R0556:Cpd	UTSW	11	76,693,171 (GRCm39)	splice site	probably benign
R0666:Cpd	UTSW	11	76,673,153 (GRCm39)	missense	probably damaging	1.00
R0668:Cpd	UTSW	11	76,675,224 (GRCm39)	missense	probably damaging	1.00
R1180:Cpd	UTSW	11	76,692,579 (GRCm39)	missense	possibly damaging	0.56
R1472:Cpd	UTSW	11	76,675,224 (GRCm39)	missense	probably damaging	0.98
R1518:Cpd	UTSW	11	76,731,212 (GRCm39)	critical splice donor site	probably null
R1617:Cpd	UTSW	11	76,737,495 (GRCm39)	missense	probably damaging	1.00
R1786:Cpd	UTSW	11	76,683,624 (GRCm39)	missense	probably benign	0.00
R1854:Cpd	UTSW	11	76,677,164 (GRCm39)	missense	probably damaging	1.00
R1861:Cpd	UTSW	11	76,675,208 (GRCm39)	splice site	probably benign
R2159:Cpd	UTSW	11	76,688,467 (GRCm39)	missense	probably damaging	0.96
R2205:Cpd	UTSW	11	76,693,070 (GRCm39)	missense	probably damaging	0.99
R2281:Cpd	UTSW	11	76,688,627 (GRCm39)	missense	probably benign	0.00
R2680:Cpd	UTSW	11	76,681,825 (GRCm39)	missense	probably benign
R2928:Cpd	UTSW	11	76,737,200 (GRCm39)	missense	probably benign
R2937:Cpd	UTSW	11	76,702,685 (GRCm39)	missense	probably damaging	1.00
R4133:Cpd	UTSW	11	76,705,644 (GRCm39)	nonsense	probably null
R4241:Cpd	UTSW	11	76,737,611 (GRCm39)	missense	probably benign	0.03
R4369:Cpd	UTSW	11	76,688,537 (GRCm39)	missense	possibly damaging	0.82
R4538:Cpd	UTSW	11	76,681,825 (GRCm39)	missense	probably benign
R4551:Cpd	UTSW	11	76,702,712 (GRCm39)	missense	probably damaging	1.00
R4617:Cpd	UTSW	11	76,731,441 (GRCm39)	missense	probably damaging	1.00
R4732:Cpd	UTSW	11	76,702,620 (GRCm39)	missense	probably damaging	0.99
R4733:Cpd	UTSW	11	76,702,620 (GRCm39)	missense	probably damaging	0.99
R4821:Cpd	UTSW	11	76,737,063 (GRCm39)	missense	probably benign	0.38
R4852:Cpd	UTSW	11	76,675,976 (GRCm39)	missense	probably benign	0.32
R4901:Cpd	UTSW	11	76,681,707 (GRCm39)	missense	probably damaging	1.00
R4988:Cpd	UTSW	11	76,705,656 (GRCm39)	missense	probably damaging	0.98
R4999:Cpd	UTSW	11	76,737,048 (GRCm39)	critical splice donor site	probably null
R5005:Cpd	UTSW	11	76,704,396 (GRCm39)	missense	probably damaging	1.00
R5092:Cpd	UTSW	11	76,702,530 (GRCm39)	missense	possibly damaging	0.75
R5438:Cpd	UTSW	11	76,682,792 (GRCm39)	missense	possibly damaging	0.65
R5524:Cpd	UTSW	11	76,688,727 (GRCm39)	nonsense	probably null
R5677:Cpd	UTSW	11	76,690,651 (GRCm39)	missense	probably benign
R5826:Cpd	UTSW	11	76,675,242 (GRCm39)	nonsense	probably null
R6031:Cpd	UTSW	11	76,681,714 (GRCm39)	missense	probably benign	0.00
R6031:Cpd	UTSW	11	76,681,714 (GRCm39)	missense	probably benign	0.00
R6103:Cpd	UTSW	11	76,690,625 (GRCm39)	missense	probably benign	0.00
R6257:Cpd	UTSW	11	76,703,496 (GRCm39)	missense	probably benign	0.37
R6263:Cpd	UTSW	11	76,737,097 (GRCm39)	missense	probably benign	0.00
R6485:Cpd	UTSW	11	76,699,533 (GRCm39)	splice site	probably null
R6671:Cpd	UTSW	11	76,686,359 (GRCm39)	missense	probably damaging	1.00
R6995:Cpd	UTSW	11	76,675,881 (GRCm39)	missense	probably benign	0.02
R7074:Cpd	UTSW	11	76,704,420 (GRCm39)	missense	probably damaging	1.00
R7192:Cpd	UTSW	11	76,705,667 (GRCm39)	missense	probably damaging	1.00
R7341:Cpd	UTSW	11	76,737,779 (GRCm39)	missense	unknown
R7371:Cpd	UTSW	11	76,737,437 (GRCm39)	missense	probably benign	0.25
R7380:Cpd	UTSW	11	76,693,151 (GRCm39)	nonsense	probably null
R7392:Cpd	UTSW	11	76,692,605 (GRCm39)	missense	probably damaging	1.00
R7410:Cpd	UTSW	11	76,673,134 (GRCm39)	missense	probably damaging	1.00
R7509:Cpd	UTSW	11	76,688,702 (GRCm39)	missense	probably benign	0.17
R7767:Cpd	UTSW	11	76,704,385 (GRCm39)	missense	probably benign	0.03
R8935:Cpd	UTSW	11	76,731,295 (GRCm39)	missense	probably damaging	1.00
R9151:Cpd	UTSW	11	76,675,275 (GRCm39)	missense	possibly damaging	0.54
R9172:Cpd	UTSW	11	76,675,252 (GRCm39)	missense	probably benign	0.21
R9173:Cpd	UTSW	11	76,699,649 (GRCm39)	missense	probably damaging	0.97
R9310:Cpd	UTSW	11	76,705,607 (GRCm39)	nonsense	probably null
R9666:Cpd	UTSW	11	76,693,133 (GRCm39)	missense	probably benign	0.02
Z1088:Cpd	UTSW	11	76,692,572 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-07-11