Mutagenetix > Incidental Mutation

Incidental Mutation 'R0372:Cpb2'

30559

Institutional Source

Beutler Lab

Gene Symbol

Cpb2

Ensembl Gene

ENSMUSG00000021999

Gene Name

carboxypeptidase B2

Synonyms

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

MMRRC Submission

038578-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75479727-75520995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75479817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 8 (I8N)

Ref Sequence

ENSEMBL: ENSMUSP00000022576 (fasta)

Gene Model

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

AlphaFold

Q9JHH6

Predicted Effect

probably benign
Transcript: ENSMUST00000022576
AA Change: I8N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: I8N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	A	14: 64,210,931 (GRCm39)	Q99L	probably damaging	Het
Abca2	A	G	2: 25,327,365 (GRCm39)	Y641C	probably damaging	Het
Abhd10	A	G	16: 45,557,254 (GRCm39)		probably null	Het
Acan	G	T	7: 78,750,349 (GRCm39)	A1707S	probably benign	Het
Ankrd61	T	A	5: 143,827,993 (GRCm39)	R284S	probably benign	Het
Ap3d1	T	C	10: 80,559,401 (GRCm39)	K258E	probably damaging	Het
Arl6ip6	T	G	2: 53,092,933 (GRCm39)	F153V	probably damaging	Het
Atp2c2	C	A	8: 120,484,180 (GRCm39)	F930L	probably benign	Het
Avl9	T	C	6: 56,703,309 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,159 (GRCm39)	S16G	probably damaging	Het
Axin2	T	A	11: 108,814,936 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,656,981 (GRCm39)	D282E	probably benign	Het
Ccny	A	T	18: 9,345,201 (GRCm39)	V191D	probably damaging	Het
Cdk11b	A	G	4: 155,725,957 (GRCm39)		probably benign	Het
Chd1	T	A	17: 17,607,552 (GRCm39)	C367S	probably benign	Het
Cnnm4	G	A	1: 36,537,091 (GRCm39)	V472M	probably damaging	Het
Dusp11	A	G	6: 85,935,712 (GRCm39)		probably benign	Het
Elmo1	T	C	13: 20,756,629 (GRCm39)		probably null	Het
Gbf1	C	T	19: 46,274,143 (GRCm39)	P1726S	probably benign	Het
Hal	A	G	10: 93,343,415 (GRCm39)		probably benign	Het
Hlcs	T	C	16: 93,939,766 (GRCm39)	I671V	possibly damaging	Het
Ifnab	A	G	4: 88,609,071 (GRCm39)	S132P	probably benign	Het
Ing5	T	C	1: 93,740,142 (GRCm39)	I70T	probably damaging	Het
Ints1	T	C	5: 139,758,193 (GRCm39)	N228S	probably damaging	Het
Itgb6	T	A	2: 60,458,185 (GRCm39)	I523F	probably benign	Het
Kat2b	T	C	17: 53,945,565 (GRCm39)	F328S	possibly damaging	Het
Kbtbd3	A	T	9: 4,316,950 (GRCm39)	I34F	possibly damaging	Het
Klhl11	A	T	11: 100,354,348 (GRCm39)	I491N	probably damaging	Het
Lmo7	A	T	14: 102,155,489 (GRCm39)		probably benign	Het
Lrp1	G	T	10: 127,428,005 (GRCm39)	P523T	probably damaging	Het
Lrp1b	T	A	2: 40,620,810 (GRCm39)	D3556V	probably benign	Het
Lrp2	T	A	2: 69,365,387 (GRCm39)	H262L	probably benign	Het
Lrrc27	T	A	7: 138,806,103 (GRCm39)	I256K	probably benign	Het
Lrrc47	G	A	4: 154,104,089 (GRCm39)	R523K	probably benign	Het
Lrrc71	A	T	3: 87,653,084 (GRCm39)	S111T	probably benign	Het
Map3k7cl	T	C	16: 87,378,100 (GRCm39)	V72A	probably damaging	Het
Mphosph10	G	T	7: 64,038,603 (GRCm39)		probably benign	Het
Nlrp4a	T	C	7: 26,148,657 (GRCm39)		probably benign	Het
Nsd2	A	T	5: 34,048,895 (GRCm39)	M1140L	probably damaging	Het
Nt5dc3	T	C	10: 86,661,155 (GRCm39)	M440T	possibly damaging	Het
Oog4	A	T	4: 143,164,259 (GRCm39)	L424Q	probably damaging	Het
Or5h17	T	C	16: 58,820,450 (GRCm39)	V134A	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Papola	T	C	12: 105,785,097 (GRCm39)	F410L	probably benign	Het
Pcdh10	A	G	3: 45,333,932 (GRCm39)	E82G	probably damaging	Het
Pcdh20	T	C	14: 88,706,439 (GRCm39)	Y287C	probably damaging	Het
Pld1	T	A	3: 28,142,787 (GRCm39)		probably null	Het
Plekha8	G	A	6: 54,593,743 (GRCm39)		probably null	Het
Ppbp	C	T	5: 90,917,202 (GRCm39)	T93M	possibly damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rab3gap2	C	T	1: 184,994,891 (GRCm39)	T810M	possibly damaging	Het
Rassf9	A	G	10: 102,381,872 (GRCm39)	N418S	possibly damaging	Het
Rnf20	C	G	4: 49,650,176 (GRCm39)	R582G	possibly damaging	Het
Serpine2	T	C	1: 79,799,147 (GRCm39)	I36V	probably damaging	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Slc24a2	A	T	4: 87,145,529 (GRCm39)	V175E	probably damaging	Het
Sned1	T	C	1: 93,213,673 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	GCC	G	2: 121,889,928 (GRCm39)		probably null	Het
Tecrl	C	T	5: 83,442,506 (GRCm39)	C189Y	probably damaging	Het
Tert	A	G	13: 73,797,110 (GRCm39)	D1116G	probably damaging	Het
Thnsl2	T	C	6: 71,116,774 (GRCm39)	Y126C	probably damaging	Het
Tll2	T	C	19: 41,171,752 (GRCm39)		probably null	Het
Ubqln4	C	T	3: 88,463,276 (GRCm39)	S147L	probably benign	Het
Ugt2b5	A	T	5: 87,288,117 (GRCm39)	C17S	probably benign	Het
Vps41	A	T	13: 19,026,417 (GRCm39)	Q505L	probably benign	Het
Zfp386	T	C	12: 116,018,436 (GRCm39)	M35T	possibly damaging	Het
Zfp777	T	C	6: 48,021,410 (GRCm39)	M71V	possibly damaging	Het
Zfp938	A	T	10: 82,063,662 (GRCm39)	L34Q	probably damaging	Het
Zfp974	A	T	7: 27,620,120 (GRCm39)		probably null	Het

Other mutations in Cpb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Cpb2	APN	14	75,512,533 (GRCm39)	missense	possibly damaging	0.64
IGL00925:Cpb2	APN	14	75,498,190 (GRCm39)	missense	possibly damaging	0.56
IGL01069:Cpb2	APN	14	75,508,215 (GRCm39)	missense	probably damaging	1.00
IGL01521:Cpb2	APN	14	75,495,071 (GRCm39)	missense	probably damaging	1.00
IGL02331:Cpb2	APN	14	75,520,844 (GRCm39)	missense	possibly damaging	0.93
IGL02947:Cpb2	APN	14	75,520,758 (GRCm39)	missense	probably damaging	1.00
IGL02961:Cpb2	APN	14	75,502,823 (GRCm39)	missense	probably benign
PIT4677001:Cpb2	UTSW	14	75,493,463 (GRCm39)	missense	probably benign
R0271:Cpb2	UTSW	14	75,495,149 (GRCm39)	splice site	probably null
R0277:Cpb2	UTSW	14	75,502,898 (GRCm39)	missense	probably damaging	1.00
R1893:Cpb2	UTSW	14	75,493,403 (GRCm39)	missense	probably benign	0.44
R1926:Cpb2	UTSW	14	75,479,837 (GRCm39)	missense	probably benign	0.07
R2372:Cpb2	UTSW	14	75,505,490 (GRCm39)	missense	probably damaging	0.97
R2923:Cpb2	UTSW	14	75,493,473 (GRCm39)	critical splice donor site	probably null
R3714:Cpb2	UTSW	14	75,520,657 (GRCm39)	splice site	probably null
R5958:Cpb2	UTSW	14	75,520,827 (GRCm39)	missense	probably damaging	1.00
R5987:Cpb2	UTSW	14	75,498,128 (GRCm39)	missense	probably damaging	1.00
R6354:Cpb2	UTSW	14	75,495,145 (GRCm39)	critical splice donor site	probably null
R6495:Cpb2	UTSW	14	75,512,519 (GRCm39)	missense	probably damaging	1.00
R6984:Cpb2	UTSW	14	75,502,898 (GRCm39)	missense	possibly damaging	0.78
R7211:Cpb2	UTSW	14	75,512,430 (GRCm39)	missense	probably damaging	1.00
R7380:Cpb2	UTSW	14	75,493,449 (GRCm39)	missense	possibly damaging	0.77
R7444:Cpb2	UTSW	14	75,520,782 (GRCm39)	missense	probably damaging	0.99
R7625:Cpb2	UTSW	14	75,509,989 (GRCm39)	missense	possibly damaging	0.89
R7784:Cpb2	UTSW	14	75,512,480 (GRCm39)	missense	probably damaging	1.00
R8436:Cpb2	UTSW	14	75,510,015 (GRCm39)	missense	probably damaging	1.00
R8947:Cpb2	UTSW	14	75,515,627 (GRCm39)	missense	probably damaging	1.00
R9003:Cpb2	UTSW	14	75,479,868 (GRCm39)	splice site	probably benign
R9272:Cpb2	UTSW	14	75,520,803 (GRCm39)	missense	probably damaging	1.00
R9391:Cpb2	UTSW	14	75,508,136 (GRCm39)	missense	probably damaging	0.98
R9409:Cpb2	UTSW	14	75,505,522 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCCACAATGCCAGGATTAAAATTGTC -3'
(R):5'- TCAAGTCTCTGAAGGAACTGGCCTC -3'

Sequencing Primer
(F):5'- TTTGAGGGTTCAGATATCAGACGAC -3'
(R):5'- GAAGGAACTGGCCTCTACCC -3'

Posted On

2013-04-24