Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Cpb1'

92075

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

20248264-20275733 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 20251954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011607 (fasta)

Gene Model

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

AlphaFold

B2RS76

Predicted Effect

probably null
Transcript: ENSMUST00000011607

SMART Domains

Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463

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: ENSMUST00000125945

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly 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
IGL01505:Cpb1	APN	3	20266246	missense	probably damaging	1.00
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
R9260:Cpb1	UTSW	3	20262474	missense	probably damaging	1.00
R9568:Cpb1	UTSW	3	20266533	splice site	probably null

Posted On

2013-12-09