Mutagenetix > Incidental Mutation

Incidental Mutation 'R5438:Cpd'

428484

Institutional Source

Beutler Lab

Gene Symbol

Cpd

Ensembl Gene

ENSMUSG00000020841

Gene Name

carboxypeptidase D

Synonyms

D830034L15Rik

MMRRC Submission

043003-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R5438 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76669250-76737844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76682792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1076 (I1076F)

Ref Sequence

ENSEMBL: ENSMUSP00000021201 (fasta)

Gene Model

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

AlphaFold

O89001

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021201
AA Change: I1076F

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: I1076F

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,538,165 (GRCm39)	Q244K	probably benign	Het
Arpc2	T	A	1: 74,275,995 (GRCm39)	L4Q	probably null	Het
Atp7b	C	T	8: 22,504,570 (GRCm39)	V581I	probably benign	Het
Bpifb9b	T	A	2: 154,151,288 (GRCm39)	V3D	possibly damaging	Het
Capn13	A	G	17: 73,633,479 (GRCm39)	F525L	probably benign	Het
Cimip4	T	C	15: 78,263,040 (GRCm39)	T180A	possibly damaging	Het
Cmya5	G	T	13: 93,231,707 (GRCm39)	T1127K	possibly damaging	Het
Col6a4	A	T	9: 105,890,895 (GRCm39)	L1800I	possibly damaging	Het
Elp4	A	G	2: 105,734,748 (GRCm39)	F29S	probably damaging	Het
Exosc10	T	A	4: 148,650,799 (GRCm39)	Y448*	probably null	Het
Fam219a	A	G	4: 41,520,302 (GRCm39)	S149P	probably damaging	Het
Gdap2	A	T	3: 100,085,629 (GRCm39)	I184F	probably damaging	Het
Golgb1	A	G	16: 36,720,870 (GRCm39)	N409D	probably benign	Het
Grin2b	C	T	6: 135,713,304 (GRCm39)	G859D	probably damaging	Het
Hvcn1	A	G	5: 122,376,527 (GRCm39)	K153R	probably damaging	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Kcnn3	T	A	3: 89,428,605 (GRCm39)	L277Q	probably damaging	Het
Lama1	T	A	17: 68,107,769 (GRCm39)	S2128T	possibly damaging	Het
Ltbp1	T	A	17: 75,598,321 (GRCm39)	S919T	probably damaging	Het
Mgam	A	G	6: 40,661,455 (GRCm39)	N1163S	probably damaging	Het
Mypn	G	T	10: 62,971,618 (GRCm39)	C807*	probably null	Het
Or52n5	G	A	7: 104,588,344 (GRCm39)	V204I	probably benign	Het
Or5m8	T	C	2: 85,822,925 (GRCm39)	F255L	probably damaging	Het
Otud7a	A	G	7: 63,407,207 (GRCm39)	N62S	unknown	Het
Pcdh18	A	T	3: 49,710,465 (GRCm39)	Y283*	probably null	Het
Ptger2	A	T	14: 45,227,101 (GRCm39)	H227L	possibly damaging	Het
Slc24a5	A	G	2: 124,910,785 (GRCm39)	Y72C	probably damaging	Het
Slc35f2	T	A	9: 53,708,302 (GRCm39)	D98E	probably benign	Het
Smad1	A	T	8: 80,082,949 (GRCm39)	F184I	probably benign	Het
Sncg	C	T	14: 34,095,637 (GRCm39)	V52I	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Zc3h11a	C	T	1: 133,568,385 (GRCm39)	R88H	probably damaging	Het
Zfp141	A	G	7: 42,138,894 (GRCm39)	V46A	probably damaging	Het
Zfp472	T	A	17: 33,197,193 (GRCm39)	C423S	probably damaging	Het
Zfp729a	A	T	13: 67,767,705 (GRCm39)	H841Q	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
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
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'- GGAGGAACATTACTTAGTGACTTG -3'
(R):5'- ATAGTGAGACAATTGCCCACAC -3'

Sequencing Primer
(F):5'- GGAACATTACTTAGTGACTTGGAAAG -3'
(R):5'- GGAACTCACTCTGTAGATCAGTC -3'

Posted On

2016-09-01