Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01505:Cpb1'

89005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpb1

Ensembl Gene

ENSMUSG00000011463

Gene Name

carboxypeptidase B1 (tissue)

Synonyms

1810063F02Rik, 0910001A18Rik, 2210008M23Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

20248264-20275733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20266246 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 150 (R150C)

Ref Sequence

ENSEMBL: ENSMUSP00000011607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011607]

Predicted Effect

probably damaging
Transcript: ENSMUST00000011607
AA Change: R150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: R150C

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Propep_M14	26	102	2.4e-19	PFAM
Zn_pept	117	398	2.08e-147	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137855

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 68,947,347		probably null	Het
A2m	A	G	6: 121,676,947	N1413S	possibly damaging	Het
Arhgap45	A	T	10: 80,026,542	N488Y	probably benign	Het
Arid4a	G	A	12: 71,037,115	D94N	probably damaging	Het
Atp7a	A	G	X: 106,109,830	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,028,063	V275M	probably benign	Het
Ceacam12	T	C	7: 18,067,432	V112A	probably damaging	Het
Cep295	T	A	9: 15,318,049	D2256V	probably benign	Het
Chid1	A	T	7: 141,513,894		probably null	Het
Clcn5	A	T	X: 7,170,439	L268*	probably null	Het
Cldn17	A	G	16: 88,506,703	I46T	possibly damaging	Het
Cnot1	A	T	8: 95,728,718	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,087	V574M	probably damaging	Het
Col14a1	T	A	15: 55,455,223	C1373S	unknown	Het
Col9a1	A	G	1: 24,185,124	N129S	unknown	Het
Cp	C	T	3: 19,977,192	P598S	possibly damaging	Het
Cyp2j7	T	A	4: 96,227,680		probably null	Het
Dnajb7	T	C	15: 81,407,491	E215G	possibly damaging	Het
Dock1	G	A	7: 135,158,510	R1634Q	possibly damaging	Het
Dopey2	A	G	16: 93,757,116	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,366,997	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003		probably null	Het
Fzd7	A	G	1: 59,483,903	E315G	probably benign	Het
Gjc1	T	A	11: 102,800,726	K150N	probably benign	Het
Gm436	C	T	4: 144,674,618	V99M	probably damaging	Het
Gpihbp1	C	T	15: 75,598,128		probably benign	Het
Gpr160	T	C	3: 30,895,853	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,672,749	R58*	probably null	Het
Ifit1	T	A	19: 34,648,454	M330K	probably benign	Het
Igkv1-122	T	C	6: 68,017,194	V22A	probably benign	Het
Ikbke	A	T	1: 131,255,311	D692E	probably benign	Het
Il15ra	T	C	2: 11,733,145		probably benign	Het
Il18rap	A	G	1: 40,537,084	I252V	probably damaging	Het
Klra10	C	T	6: 130,272,717	G202R	probably damaging	Het
Kpna7	A	G	5: 144,992,851	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,721,401	S108P	probably damaging	Het
Msto1	G	A	3: 88,910,743	T388M	probably benign	Het
Naip1	T	C	13: 100,425,933	E908G	probably damaging	Het
Neto1	C	A	18: 86,473,689	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,417,734	D294E	probably benign	Het
Nr3c2	T	C	8: 76,909,187	S306P	probably damaging	Het
Olfr890	T	A	9: 38,143,871	C240*	probably null	Het
Pard3	T	A	8: 127,324,063	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,207	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,309,358	D1077G	probably benign	Het
Pmfbp1	A	C	8: 109,513,911	L208F	probably damaging	Het
Pms1	C	T	1: 53,206,971	D470N	probably benign	Het
Prdm10	T	C	9: 31,327,282	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,154,776	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,399,964	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,347,893		probably benign	Het
Smg6	A	G	11: 75,156,291	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,376,567	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,317,453	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,879,963	D555E	probably benign	Het
Tsg101	A	G	7: 46,909,060	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,548,572	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,858,059	R682*	probably null	Het
Xkr5	A	T	8: 18,933,498	I676N	probably damaging	Het

Other mutations in Cpb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Cpb1	APN	3	20252029	missense	probably benign	0.00
IGL01061:Cpb1	APN	3	20266516	missense	probably benign	0.06
IGL01376:Cpb1	APN	3	20270324	missense	probably benign	0.00
IGL01409:Cpb1	APN	3	20249805	missense	possibly damaging	0.51
IGL01599:Cpb1	APN	3	20251954	critical splice donor site	probably null
IGL01672:Cpb1	APN	3	20275421	missense	probably null	0.34
IGL02421:Cpb1	APN	3	20251984	missense	probably damaging	1.00
IGL02685:Cpb1	APN	3	20265356	missense	probably damaging	1.00
IGL02825:Cpb1	APN	3	20249725	missense	probably damaging	1.00
IGL02929:Cpb1	APN	3	20275466	missense	probably benign	0.00
IGL03229:Cpb1	APN	3	20249837	nonsense	probably null
R0106:Cpb1	UTSW	3	20266533	splice site	probably null
R0106:Cpb1	UTSW	3	20266533	splice site	probably null
R0485:Cpb1	UTSW	3	20275628	missense	unknown
R0609:Cpb1	UTSW	3	20262474	missense	probably damaging	1.00
R0622:Cpb1	UTSW	3	20249818	missense	probably damaging	1.00
R0676:Cpb1	UTSW	3	20266533	splice site	probably null
R0829:Cpb1	UTSW	3	20251943	splice site	probably benign
R0981:Cpb1	UTSW	3	20275490	missense	probably benign	0.29
R1496:Cpb1	UTSW	3	20263532	missense	probably damaging	0.99
R1535:Cpb1	UTSW	3	20266287	missense	probably benign	0.19
R1607:Cpb1	UTSW	3	20263782	missense	probably benign	0.03
R1707:Cpb1	UTSW	3	20275491	missense	probably damaging	0.99
R1753:Cpb1	UTSW	3	20266241	missense	possibly damaging	0.67
R1866:Cpb1	UTSW	3	20263756	missense	probably benign	0.00
R2177:Cpb1	UTSW	3	20266447	missense	probably benign	0.41
R2234:Cpb1	UTSW	3	20275465	missense	probably benign	0.04
R3110:Cpb1	UTSW	3	20265357	missense	probably damaging	1.00
R3112:Cpb1	UTSW	3	20265357	missense	probably damaging	1.00
R4353:Cpb1	UTSW	3	20262544	missense	probably benign	0.07
R4405:Cpb1	UTSW	3	20263569	missense	probably benign	0.00
R4485:Cpb1	UTSW	3	20249701	missense	probably benign	0.00
R4734:Cpb1	UTSW	3	20263712	missense	probably benign	0.43
R4984:Cpb1	UTSW	3	20270352	frame shift	probably null
R5807:Cpb1	UTSW	3	20263742	missense	probably damaging	0.98
R6377:Cpb1	UTSW	3	20275584	critical splice donor site	probably null
R6441:Cpb1	UTSW	3	20249814	missense	probably damaging	1.00
R7175:Cpb1	UTSW	3	20263763	missense	probably benign	0.00
R7488:Cpb1	UTSW	3	20270324	missense	possibly damaging	0.46
R8288:Cpb1	UTSW	3	20265367	nonsense	probably null

Posted On

2013-12-03