Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Cpd'

554705

Institutional Source

Beutler Lab

Gene Symbol

Cpd

Ensembl Gene

ENSMUSG00000020841

Gene Name

carboxypeptidase D

Synonyms

D830034L15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76778424-76847018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76797788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 886 (H886P)

Ref Sequence

ENSEMBL: ENSMUSP00000021201 (fasta)

Gene Model

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

AlphaFold

O89001

Predicted Effect

probably benign
Transcript: ENSMUST00000021201
AA Change: H886P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: H886P

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298	L430P		Het
Alk	T	C	17: 71,949,921	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607	V151A	probably damaging	Het
Cped1	T	A	6: 22,222,450	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912	E428G	probably benign	Het
Csad	G	A	15: 102,188,650	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,892,686	Y159H	probably damaging	Het
Dpysl4	T	A	7: 139,089,578	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429	K163E	possibly damaging	Het
Flot2	T	C	11: 78,053,367	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,990,852	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,469,077	T426A	probably benign	Het
Kdm2a	T	A	19: 4,343,173	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663	T331K	probably damaging	Het
Nsun3	T	A	16: 62,785,865	K15N	probably damaging	Het
Nsun5	A	G	5: 135,371,501	Y132C	probably benign	Het
Obsl1	T	A	1: 75,487,963	T1605S	probably benign	Het
Olfr1463	T	C	19: 13,234,895	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602	Y227H	probably damaging	Het
Olfr574	A	T	7: 102,949,449	Y328F	probably benign	Het
Oraov1	T	A	7: 144,916,444	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908		probably null	Het
Rhpn2	A	G	7: 35,390,753		probably null	Het
Runx1	T	A	16: 92,613,760	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523	N557I	probably benign	Het
Slmap	C	T	14: 26,533,431	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srr	C	A	11: 74,910,308	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961		probably null	Het
Zw10	C	T	9: 49,071,644	T525I	probably benign	Het

Other mutations in Cpd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Cpd	APN	11	76797789	missense	probably benign	0.00
IGL00698:Cpd	APN	11	76840444	missense	possibly damaging	0.82
IGL01025:Cpd	APN	11	76795613	missense	probably damaging	1.00
IGL01292:Cpd	APN	11	76846245	missense	possibly damaging	0.80
IGL01571:Cpd	APN	11	76782296	missense	probably damaging	1.00
IGL01606:Cpd	APN	11	76812640	missense	probably benign
IGL02283:Cpd	APN	11	76840425	missense	probably benign	0.19
IGL02895:Cpd	APN	11	76785203	missense	probably benign	0.06
IGL02965:Cpd	APN	11	76790988	splice site	probably benign
IGL03116:Cpd	APN	11	76811713	missense	probably damaging	1.00
IGL03178:Cpd	APN	11	76806051	missense	probably benign	0.02
PIT4280001:Cpd	UTSW	11	76791024	missense	probably benign	0.23
R0050:Cpd	UTSW	11	76792859	missense	possibly damaging	0.94
R0054:Cpd	UTSW	11	76790838	missense	probably damaging	1.00
R0054:Cpd	UTSW	11	76790838	missense	probably damaging	1.00
R0320:Cpd	UTSW	11	76840447	missense	possibly damaging	0.50
R0416:Cpd	UTSW	11	76785204	missense	probably benign	0.13
R0556:Cpd	UTSW	11	76802345	splice site	probably benign
R0666:Cpd	UTSW	11	76782327	missense	probably damaging	1.00
R0668:Cpd	UTSW	11	76784398	missense	probably damaging	1.00
R1180:Cpd	UTSW	11	76801753	missense	possibly damaging	0.56
R1472:Cpd	UTSW	11	76784398	missense	probably damaging	0.98
R1518:Cpd	UTSW	11	76840386	critical splice donor site	probably null
R1617:Cpd	UTSW	11	76846669	missense	probably damaging	1.00
R1786:Cpd	UTSW	11	76792798	missense	probably benign	0.00
R1854:Cpd	UTSW	11	76786338	missense	probably damaging	1.00
R1861:Cpd	UTSW	11	76784382	splice site	probably benign
R2159:Cpd	UTSW	11	76797641	missense	probably damaging	0.96
R2205:Cpd	UTSW	11	76802244	missense	probably damaging	0.99
R2281:Cpd	UTSW	11	76797801	missense	probably benign	0.00
R2680:Cpd	UTSW	11	76790999	missense	probably benign
R2928:Cpd	UTSW	11	76846374	missense	probably benign
R2937:Cpd	UTSW	11	76811859	missense	probably damaging	1.00
R4133:Cpd	UTSW	11	76814818	nonsense	probably null
R4241:Cpd	UTSW	11	76846785	missense	probably benign	0.03
R4369:Cpd	UTSW	11	76797711	missense	possibly damaging	0.82
R4538:Cpd	UTSW	11	76790999	missense	probably benign
R4551:Cpd	UTSW	11	76811886	missense	probably damaging	1.00
R4617:Cpd	UTSW	11	76840615	missense	probably damaging	1.00
R4732:Cpd	UTSW	11	76811794	missense	probably damaging	0.99
R4733:Cpd	UTSW	11	76811794	missense	probably damaging	0.99
R4821:Cpd	UTSW	11	76846237	missense	probably benign	0.38
R4852:Cpd	UTSW	11	76785150	missense	probably benign	0.32
R4901:Cpd	UTSW	11	76790881	missense	probably damaging	1.00
R4988:Cpd	UTSW	11	76814830	missense	probably damaging	0.98
R4999:Cpd	UTSW	11	76846222	critical splice donor site	probably null
R5005:Cpd	UTSW	11	76813570	missense	probably damaging	1.00
R5092:Cpd	UTSW	11	76811704	missense	possibly damaging	0.75
R5438:Cpd	UTSW	11	76791966	missense	possibly damaging	0.65
R5524:Cpd	UTSW	11	76797901	nonsense	probably null
R5677:Cpd	UTSW	11	76799825	missense	probably benign
R5826:Cpd	UTSW	11	76784416	nonsense	probably null
R6031:Cpd	UTSW	11	76790888	missense	probably benign	0.00
R6031:Cpd	UTSW	11	76790888	missense	probably benign	0.00
R6103:Cpd	UTSW	11	76799799	missense	probably benign	0.00
R6257:Cpd	UTSW	11	76812670	missense	probably benign	0.37
R6263:Cpd	UTSW	11	76846271	missense	probably benign	0.00
R6485:Cpd	UTSW	11	76808707	splice site	probably null
R6671:Cpd	UTSW	11	76795533	missense	probably damaging	1.00
R6995:Cpd	UTSW	11	76785055	missense	probably benign	0.02
R7074:Cpd	UTSW	11	76813594	missense	probably damaging	1.00
R7192:Cpd	UTSW	11	76814841	missense	probably damaging	1.00
R7341:Cpd	UTSW	11	76846953	missense	unknown
R7371:Cpd	UTSW	11	76846611	missense	probably benign	0.25
R7380:Cpd	UTSW	11	76802325	nonsense	probably null
R7392:Cpd	UTSW	11	76801779	missense	probably damaging	1.00
R7410:Cpd	UTSW	11	76782308	missense	probably damaging	1.00
R7509:Cpd	UTSW	11	76797876	missense	probably benign	0.17
R7767:Cpd	UTSW	11	76813559	missense	probably benign	0.03
R8935:Cpd	UTSW	11	76840469	missense	probably damaging	1.00
R9151:Cpd	UTSW	11	76784449	missense	possibly damaging	0.54
R9172:Cpd	UTSW	11	76784426	missense	probably benign	0.21
R9173:Cpd	UTSW	11	76808823	missense	probably damaging	0.97
R9310:Cpd	UTSW	11	76814781	nonsense	probably null
R9666:Cpd	UTSW	11	76802307	missense	probably benign	0.02
Z1088:Cpd	UTSW	11	76801746	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTCATCTTACGTGGTAAGG -3'
(R):5'- CAGTCCTCTATTTCCCAGTGCTG -3'

Sequencing Primer
(F):5'- GGTAGTTCATTACAAGTCCTCTCAGG -3'
(R):5'- CTGGAATACTGAGAAAGTGTGCATC -3'

Posted On

2019-06-07