Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Cpb2'

599469

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75242287-75283555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75275040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 298 (N298Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022576 (fasta)

Gene Model

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

AlphaFold

Q9JHH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022576
AA Change: N298Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: N298Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	possibly damaging	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
R2372:Cpb2	UTSW	14	75268050	missense	probably damaging	0.97
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
R8436:Cpb2	UTSW	14	75272575	missense	probably damaging	1.00
R8947:Cpb2	UTSW	14	75278187	missense	probably damaging	1.00
R9003:Cpb2	UTSW	14	75242428	splice site	probably benign
R9272:Cpb2	UTSW	14	75283363	missense	probably damaging	1.00
R9391:Cpb2	UTSW	14	75270696	missense	probably damaging	0.98
R9409:Cpb2	UTSW	14	75268082	missense	not run

Predicted Primers

PCR Primer
(F):5'- TGTTGCACAATAGCTATAAGGGG -3'
(R):5'- AACACCTACCTATTGTTCCCTAAAGG -3'

Sequencing Primer
(F):5'- TGCACAATAGCTATAAGGGGAATTC -3'
(R):5'- CTTACCAGTTCTTCGTGG -3'

Posted On

2019-11-26