Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03178:Cpd'

412092

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: 0.922) question?

Stock #

IGL03178

Quality Score

Status

Chromosome

Chromosomal Location

76669250-76737844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76696877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 683 (N683K)

Ref Sequence

ENSEMBL: ENSMUSP00000021201 (fasta)

Gene Model

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

AlphaFold

O89001

Predicted Effect

probably benign
Transcript: ENSMUST00000021201
AA Change: N683K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: N683K

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: ENSMUST00000132796

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add1	A	G	5: 34,771,589 (GRCm39)		probably null	Het
Afg2a	T	C	3: 37,632,932 (GRCm39)	L846P	probably damaging	Het
Alpk1	A	T	3: 127,473,870 (GRCm39)	L711*	probably null	Het
Arfgef3	A	T	10: 18,488,973 (GRCm39)	W1291R	probably damaging	Het
Arhgef10l	A	G	4: 140,271,739 (GRCm39)	V545A	possibly damaging	Het
Best3	A	G	10: 116,824,684 (GRCm39)	Y50C	probably damaging	Het
C1qtnf2	C	A	11: 43,381,816 (GRCm39)	D179E	probably damaging	Het
Cdc40	A	T	10: 40,723,985 (GRCm39)	S268T	probably benign	Het
Ces1a	C	T	8: 93,747,517 (GRCm39)	G505R	probably damaging	Het
D430041D05Rik	A	T	2: 104,051,556 (GRCm39)	I767N	probably damaging	Het
Diras1	G	T	10: 80,858,211 (GRCm39)	F13L	possibly damaging	Het
Dnah7c	A	G	1: 46,506,525 (GRCm39)	N201D	probably benign	Het
Dpy19l3	A	T	7: 35,429,154 (GRCm39)	Y9*	probably null	Het
Ect2	T	A	3: 27,203,009 (GRCm39)	I79L	probably benign	Het
Eif2b4	A	T	5: 31,344,997 (GRCm39)	I550N	probably damaging	Het
Enpp2	T	A	15: 54,729,402 (GRCm39)	M476L	probably benign	Het
Gm20425	A	G	9: 103,087,751 (GRCm39)	Y654H	probably damaging	Het
Gm5884	T	C	6: 128,622,690 (GRCm39)		noncoding transcript	Het
Gtf3c6	A	T	10: 40,125,718 (GRCm39)	D166E	probably benign	Het
Gucy2c	A	T	6: 136,706,237 (GRCm39)		probably benign	Het
Inpp5b	A	G	4: 124,679,047 (GRCm39)	T485A	probably benign	Het
Insrr	A	G	3: 87,709,848 (GRCm39)		probably null	Het
Lig3	T	C	11: 82,680,548 (GRCm39)		probably benign	Het
Lmo7	T	A	14: 102,166,696 (GRCm39)	Y1047*	probably null	Het
Map4k4	A	G	1: 40,025,853 (GRCm39)	E281G	possibly damaging	Het
Mmel1	A	G	4: 154,975,311 (GRCm39)	T431A	possibly damaging	Het
Myh10	T	C	11: 68,590,239 (GRCm39)	V58A	probably benign	Het
Myo1e	A	T	9: 70,194,231 (GRCm39)	H14L	possibly damaging	Het
Myo1g	C	T	11: 6,462,181 (GRCm39)	V594M	probably damaging	Het
Nr4a2	G	A	2: 57,000,778 (GRCm39)	R226C	probably damaging	Het
Obox3	A	G	7: 15,361,202 (GRCm39)	L21P	probably benign	Het
Or2y13	A	G	11: 49,414,817 (GRCm39)	D89G	possibly damaging	Het
Pate12	T	G	9: 36,344,132 (GRCm39)	S38R	probably benign	Het
Phlpp1	T	A	1: 106,320,118 (GRCm39)	I1371N	probably damaging	Het
Pramel29	A	G	4: 143,934,821 (GRCm39)		probably null	Het
Proser3	G	A	7: 30,243,034 (GRCm39)	A181V	probably damaging	Het
Pudp	A	T	18: 50,701,472 (GRCm39)	L87Q	probably benign	Het
Siglecf	T	C	7: 43,008,163 (GRCm39)	S559P	probably damaging	Het
Slc22a16	A	G	10: 40,449,756 (GRCm39)	H85R	probably benign	Het
Spata32	T	C	11: 103,101,588 (GRCm39)	D15G	probably benign	Het
Szt2	G	A	4: 118,239,886 (GRCm39)	A1899V	unknown	Het
Tomm40	C	T	7: 19,435,759 (GRCm39)	V324M	probably damaging	Het
Trgv7	C	A	13: 19,362,211 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,719,567 (GRCm39)	P25S	probably damaging	Het
Vps13b	G	T	15: 35,869,446 (GRCm39)	C2650F	probably damaging	Het
Wdr83os	T	C	8: 85,807,870 (GRCm39)	L40P	probably damaging	Het
Zfp977	T	C	7: 42,232,072 (GRCm39)	R64G	probably damaging	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
IGL01025:Cpd	APN	11	76,686,439 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02