Mutagenetix > Incidental Mutations

Incidental Mutation 'R2372:Cpb2'

248179

Institutional Source

Beutler Lab

Gene Symbol

Cpb2

Ensembl Gene

ENSMUSG00000021999

Gene Name

carboxypeptidase B2 (plasma)

Synonyms

carboxypeptidase U, TAFI, carboxypeptidase R, CPR, CPU, 1110032P04Rik, thrombin-activatable fibrinolysis inhibitor, 4930405E17Rik

MMRRC Submission

040352-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R2372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75242287-75283555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75268050 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 162 (V162G)

Ref Sequence

ENSEMBL: ENSMUSP00000022576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022576]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022576
AA Change: V162G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: V162G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Propep_M14	28	104	2.3e-17	PFAM
Zn_pept	122	406	2.1e-134	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227817

Meta Mutation Damage Score

0.5661

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: This gene encodes carboxypeptidase B, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme, and secreted into plasma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice exhibit altered plasma clot lysis and may show reduced bleomycin-induced lung fibrosis, impaired healing of cutaneous wounds and colonic anastomoses, altered glomerular structure, or complement-mediated lethal inflammation after LPS sensitization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,360,280	L135S	probably damaging	Het
A2ml1	C	T	6: 128,580,386	A115T	probably benign	Het
Alpi	G	T	1: 87,100,594	T169N	probably damaging	Het
Ccdc15	T	C	9: 37,315,505	D378G	possibly damaging	Het
Dnmbp	T	C	19: 43,902,320	E336G	probably benign	Het
Dok6	G	C	18: 89,414,864	R274G	probably null	Het
Eef1d	G	A	15: 75,896,317	R199C	probably damaging	Het
Epha8	T	C	4: 136,933,010	Y714C	probably damaging	Het
Fyb	T	C	15: 6,651,907		probably benign	Het
Gfpt2	A	G	11: 49,807,715	N46D	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gm11596	C	A	11: 99,793,256	E13*	probably null	Het
Gsx2	T	C	5: 75,077,052	F222L	probably damaging	Het
Hpca	T	A	4: 129,118,444	K100*	probably null	Het
Iqsec1	A	G	6: 90,694,654	S89P	probably damaging	Het
Kif12	T	A	4: 63,168,559	T347S	possibly damaging	Het
Knop1	A	G	7: 118,853,217	L93S	probably damaging	Het
Mib1	A	G	18: 10,812,045	T981A	probably damaging	Het
N4bp2l1	C	T	5: 150,572,781	E123K	probably damaging	Het
Npr2	C	T	4: 43,650,432	R976W	probably damaging	Het
Rbpj	T	C	5: 53,642,195		probably benign	Het
Ruvbl1	T	C	6: 88,485,797	V301A	possibly damaging	Het
Sgip1	T	C	4: 102,909,791		probably null	Het
Sh3bp2	T	C	5: 34,559,496	I361T	probably benign	Het
Skint1	T	A	4: 112,019,151	Y90N	probably damaging	Het
Slc25a45	G	A	19: 5,884,552	V183I	probably benign	Het
Slco4c1	T	A	1: 96,821,200	H664L	probably benign	Het
Sult2a4	T	A	7: 13,915,300	I194L	probably benign	Het
Tecta	C	A	9: 42,388,274	D173Y	probably damaging	Het
Tnrc18	T	A	5: 142,759,704		probably benign	Het
Trove2	C	A	1: 143,770,882	E42*	probably null	Het
Use1	T	C	8: 71,369,179	L169P	possibly damaging	Het
Zfp335	A	G	2: 164,895,039	L918P	probably damaging	Het
Zfp451	A	T	1: 33,780,052		probably null	Het

Other mutations in Cpb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Cpb2	APN	14	75275093	missense	possibly damaging	0.64
IGL00925:Cpb2	APN	14	75260750	missense	possibly damaging	0.56
IGL01069:Cpb2	APN	14	75270775	missense	probably damaging	1.00
IGL01521:Cpb2	APN	14	75257631	missense	probably damaging	1.00
IGL02331:Cpb2	APN	14	75283404	missense	possibly damaging	0.93
IGL02947:Cpb2	APN	14	75283318	missense	probably damaging	1.00
IGL02961:Cpb2	APN	14	75265383	missense	probably benign
PIT4677001:Cpb2	UTSW	14	75256023	missense	probably benign
R0271:Cpb2	UTSW	14	75257709	splice site	probably null
R0277:Cpb2	UTSW	14	75265458	missense	probably damaging	1.00
R0372:Cpb2	UTSW	14	75242377	missense	probably benign	0.01
R1893:Cpb2	UTSW	14	75255963	missense	probably benign	0.44
R1926:Cpb2	UTSW	14	75242397	missense	probably benign	0.07
R2923:Cpb2	UTSW	14	75256033	critical splice donor site	probably null
R3714:Cpb2	UTSW	14	75283217	splice site	probably null
R5958:Cpb2	UTSW	14	75283387	missense	probably damaging	1.00
R5987:Cpb2	UTSW	14	75260688	missense	probably damaging	1.00
R6354:Cpb2	UTSW	14	75257705	critical splice donor site	probably null
R6495:Cpb2	UTSW	14	75275079	missense	probably damaging	1.00
R6984:Cpb2	UTSW	14	75265458	missense	possibly damaging	0.78
R7211:Cpb2	UTSW	14	75274990	missense	probably damaging	1.00
R7380:Cpb2	UTSW	14	75256009	missense	possibly damaging	0.77
R7444:Cpb2	UTSW	14	75283342	missense	probably damaging	0.99
R7625:Cpb2	UTSW	14	75272549	missense	possibly damaging	0.89
R7784:Cpb2	UTSW	14	75275040	missense	probably damaging	1.00
R8436:Cpb2	UTSW	14	75272575	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGGTGCCTATGATGAGC -3'
(R):5'- GGGATTCTGACTCCAGTGATC -3'

Sequencing Primer
(F):5'- AACAGTCTGGCTTCAATATCACTC -3'
(R):5'- GACTCCAGTGATCTTGGATCCCAG -3'

Posted On

2014-11-11