Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4280001:Cpd'

554425

Institutional Source

Beutler Lab

Gene Symbol

Cpd

Ensembl Gene

ENSMUSG00000020841

Gene Name

carboxypeptidase D

Synonyms

D830034L15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

PIT4280001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76669250-76737844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76681850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1132 (M1132K)

Ref Sequence

ENSEMBL: ENSMUSP00000021201 (fasta)

Gene Model

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

AlphaFold

O89001

Predicted Effect

probably benign
Transcript: ENSMUST00000021201
AA Change: M1132K

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: M1132K

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

Coding Region Coverage

1x: 93.1%
3x: 90.9%
10x: 85.5%
20x: 73.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,331,660 (GRCm39)	D161G	probably damaging	Het
Acer2	C	T	4: 86,805,320 (GRCm39)	L95F	probably damaging	Het
Adam15	C	T	3: 89,251,285 (GRCm39)		probably null	Het
Aoc1l3	A	T	6: 48,964,054 (GRCm39)	M21L	probably benign	Het
Bmi1	T	A	2: 18,687,820 (GRCm39)	Y98*	probably null	Het
Cdon	T	C	9: 35,398,231 (GRCm39)	C983R	probably damaging	Het
Cfap91	C	T	16: 38,153,135 (GRCm39)	V160I	probably benign	Het
Col12a1	T	C	9: 79,585,387 (GRCm39)	R1297G	probably damaging	Het
Dnah17	T	A	11: 117,989,408 (GRCm39)	R1267W	possibly damaging	Het
Dnah9	G	A	11: 65,895,839 (GRCm39)	A2512V	probably benign	Het
Eri3	G	A	4: 117,439,831 (GRCm39)	G175D	probably damaging	Het
Fbxo9	C	A	9: 77,994,793 (GRCm39)	W244L	probably damaging	Het
Fgfr3	A	T	5: 33,889,576 (GRCm39)	H343L	probably benign	Het
Fmnl2	G	A	2: 53,008,208 (GRCm39)	A803T	unknown	Het
Fmnl3	A	G	15: 99,219,134 (GRCm39)		probably null	Het
Fth1	C	A	19: 9,961,973 (GRCm39)	A104E	probably damaging	Het
Gcm1	T	C	9: 77,966,915 (GRCm39)	Y45H	probably damaging	Het
Gm5157	C	G	7: 20,919,007 (GRCm39)	G179R	probably damaging	Het
Gpr179	A	G	11: 97,234,941 (GRCm39)	I463T	probably damaging	Het
Gpr35	T	C	1: 92,910,356 (GRCm39)	Y23H	probably damaging	Het
Inpp4b	C	T	8: 82,761,046 (GRCm39)	H647Y	probably benign	Het
Kif6	A	T	17: 50,062,148 (GRCm39)	K436M	probably benign	Het
Lacc1	T	A	14: 77,272,517 (GRCm39)	Q93L	probably damaging	Het
Lamc1	T	C	1: 153,119,217 (GRCm39)	R801G	probably damaging	Het
Lrp2bp	T	G	8: 46,476,048 (GRCm39)	V263G	probably damaging	Het
Magi3	T	A	3: 103,961,668 (GRCm39)	K453N	probably damaging	Het
Mfsd6	T	A	1: 52,700,039 (GRCm39)	Y703F	probably benign	Het
Mms22l	A	G	4: 24,581,149 (GRCm39)	T820A	probably benign	Het
Ndufa12	T	C	10: 94,034,994 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,290,063 (GRCm39)	C150S	possibly damaging	Het
Noc4l	G	A	5: 110,799,305 (GRCm39)	T159I	probably benign	Het
Olfml2b	T	A	1: 170,475,305 (GRCm39)	C77S	probably damaging	Het
Or4c12	A	T	2: 89,774,087 (GRCm39)	I124N	probably damaging	Het
Or9a4	C	A	6: 40,548,650 (GRCm39)	T110K	probably damaging	Het
Pdzd2	A	G	15: 12,399,374 (GRCm39)	V784A	probably damaging	Het
Pip5kl1	A	T	2: 32,473,470 (GRCm39)	Y369F	probably benign	Het
Pkdrej	A	T	15: 85,704,136 (GRCm39)	I600N	probably benign	Het
Psg19	T	C	7: 18,530,831 (GRCm39)	I108V	probably damaging	Het
Pxdn	G	A	12: 30,045,327 (GRCm39)	V539M	probably damaging	Het
Resf1	T	G	6: 149,227,023 (GRCm39)	I23S	probably benign	Het
Rsbn1l	T	A	5: 21,124,653 (GRCm39)	H383L	probably damaging	Het
Scamp2	A	T	9: 57,488,076 (GRCm39)	N118I	probably damaging	Het
Scn2a	T	C	2: 65,546,074 (GRCm39)	V879A	probably damaging	Het
Scn8a	G	A	15: 100,855,370 (GRCm39)	E172K	probably damaging	Het
Slc16a6	C	T	11: 109,349,419 (GRCm39)	C214Y	possibly damaging	Het
Stag1	A	G	9: 100,824,769 (GRCm39)	T922A	possibly damaging	Het
Tarbp1	T	C	8: 127,157,586 (GRCm39)	H1307R	probably damaging	Het
Tut1	T	G	19: 8,936,626 (GRCm39)	V150G	probably benign	Het
Ubr2	G	A	17: 47,255,789 (GRCm39)	R1371W	probably damaging	Het
Vmn2r124	A	G	17: 18,283,487 (GRCm39)	N394D	probably benign	Het
Vmn2r63	T	C	7: 42,553,409 (GRCm39)	T616A	probably damaging	Het
Zp3	G	A	5: 136,013,318 (GRCm39)	V217M	possibly 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
IGL03178:Cpd	APN	11	76,696,877 (GRCm39)	missense	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- TGCTCGCTCTCCAAAGCATAC -3'
(R):5'- ACTTCAGTGGGTGCAGAACTTG -3'

Sequencing Primer
(F):5'- TTCATGCTGCCCAGGTGAC -3'
(R):5'- CTTGCTAGAAAGGAGAAAAGAAGACC -3'

Posted On

2019-06-07