Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Cpb2'

599469

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

045840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75479727-75520995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75512480 bp (GRCm39)

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: 146,119,638 (GRCm39)		probably null	Het
3425401B19Rik	A	T	14: 32,381,797 (GRCm39)	S1389R	probably benign	Het
Abca9	A	T	11: 110,045,243 (GRCm39)	C363*	probably null	Het
Actbl2	T	A	13: 111,391,945 (GRCm39)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,223,197 (GRCm39)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,739,510 (GRCm39)	W653*	probably null	Het
Akap13	T	A	7: 75,260,076 (GRCm39)	V97D	probably benign	Het
Cacna1d	T	A	14: 29,845,396 (GRCm39)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,270,214 (GRCm39)	P62H	unknown	Het
Ddc	A	G	11: 11,789,396 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,541,439 (GRCm39)		probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Eps8	T	A	6: 137,476,585 (GRCm39)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,475,121 (GRCm39)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,114,658 (GRCm39)	I929F	probably damaging	Het
Erc2	A	T	14: 27,620,551 (GRCm39)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,479,187 (GRCm39)	D355N		Het
Ffar2	T	C	7: 30,518,683 (GRCm39)	K286E	probably benign	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Ganc	G	A	2: 120,267,149 (GRCm39)	W488*	probably null	Het
Ifi207	T	A	1: 173,557,698 (GRCm39)	M347L	unknown	Het
Kat6b	A	T	14: 21,710,909 (GRCm39)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,144,581 (GRCm39)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,837,320 (GRCm39)		probably null	Het
Krt39	A	T	11: 99,411,857 (GRCm39)	C76*	probably null	Het
Lcmt1	G	T	7: 123,000,718 (GRCm39)	R84L	probably benign	Het
Lrit1	A	G	14: 36,783,737 (GRCm39)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,512,397 (GRCm39)		probably null	Het
Med23	C	T	10: 24,778,346 (GRCm39)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,959,517 (GRCm39)		probably null	Het
Mtmr6	A	G	14: 60,537,894 (GRCm39)	D593G	probably benign	Het
Myo15b	G	A	11: 115,752,166 (GRCm39)	V683M		Het
Neb	T	A	2: 52,125,500 (GRCm39)	M506L		Het
Or12d13	T	C	17: 37,647,469 (GRCm39)	Y218C	probably benign	Het
Or12d13	A	G	17: 37,647,946 (GRCm39)	F59S	probably damaging	Het
Or2a20	T	A	6: 43,194,322 (GRCm39)	H158Q	possibly damaging	Het
Or9m1	G	A	2: 87,733,537 (GRCm39)	T161I	probably benign	Het
Pdzd8	A	G	19: 59,316,295 (GRCm39)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,377,544 (GRCm39)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 92,044,201 (GRCm39)	T350A		Het
Rbp3	A	T	14: 33,676,115 (GRCm39)	H21L	probably benign	Het
Rp1	C	A	1: 4,212,881 (GRCm39)	V1069F	unknown	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Ryr3	A	G	2: 112,606,040 (GRCm39)	F2407L	probably damaging	Het
Septin2	T	A	1: 93,425,166 (GRCm39)	D107E	probably damaging	Het
Septin4	A	G	11: 87,469,834 (GRCm39)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,122,237 (GRCm39)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,639,936 (GRCm39)	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,889,114 (GRCm39)	E66V	probably damaging	Het
Slco1a7	C	T	6: 141,658,919 (GRCm39)		probably null	Het
Sp140l2	T	A	1: 85,190,195 (GRCm39)		probably null	Het
Spata33	A	G	8: 123,939,991 (GRCm39)	R68G	unknown	Het
Spta1	G	A	1: 174,030,017 (GRCm39)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,342,246 (GRCm39)	S319G	probably benign	Het
Tmem208	A	G	8: 106,055,465 (GRCm39)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,193,171 (GRCm39)	I583F	probably damaging	Het
Trio	C	T	15: 27,764,080 (GRCm39)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,654,141 (GRCm39)	Q207*	probably null	Het
Tshr	A	G	12: 91,472,079 (GRCm39)	D143G	probably benign	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,176,789 (GRCm39)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,642,660 (GRCm39)	K186R	probably damaging	Het
Vars2	C	T	17: 35,969,050 (GRCm39)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp775	A	G	6: 48,596,183 (GRCm39)	Q19R	possibly damaging	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
R0372:Cpb2	UTSW	14	75,479,817 (GRCm39)	missense	probably benign	0.01
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
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'- TGTTGCACAATAGCTATAAGGGG -3'
(R):5'- AACACCTACCTATTGTTCCCTAAAGG -3'

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

Posted On

2019-11-26