Mutagenetix > Incidental Mutation

Incidental Mutation 'R5807:Cpb1'

448570

Institutional Source

Beutler Lab

Gene Symbol

Cpb1

Ensembl Gene

ENSMUSG00000011463

Gene Name

carboxypeptidase B1

Synonyms

0910001A18Rik, 2210008M23Rik, 1810063F02Rik

MMRRC Submission

043393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20302428-20329897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20317906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 206 (D206V)

Ref Sequence

ENSEMBL: ENSMUSP00000011607 (fasta)

Gene Model

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

AlphaFold

B2RS76

Predicted Effect

probably damaging
Transcript: ENSMUST00000011607
AA Change: D206V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: D206V

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (65/66)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,342,651 (GRCm39)	L943P	probably damaging	Het
Abcg5	C	A	17: 84,979,719 (GRCm39)	V214F	probably damaging	Het
Ang	T	A	14: 51,338,886 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,523,546 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,846,696 (GRCm39)		probably benign	Het
Atp11b	T	C	3: 35,866,428 (GRCm39)	I409T	probably damaging	Het
Atp5f1b	G	A	10: 127,924,431 (GRCm39)		probably benign	Het
Atp9a	G	A	2: 168,495,454 (GRCm39)	A660V	probably damaging	Het
Avpr1a	A	G	10: 122,285,376 (GRCm39)	T223A	probably benign	Het
Bmp2k	T	C	5: 97,211,353 (GRCm39)	M507T	unknown	Het
Cep295	A	G	9: 15,243,828 (GRCm39)	S287P	probably damaging	Het
Chrna7	T	A	7: 62,798,349 (GRCm39)	D111V	probably damaging	Het
Clxn	A	T	16: 14,734,836 (GRCm39)	I69F	probably benign	Het
Cnr2	A	G	4: 135,644,747 (GRCm39)	D275G	probably benign	Het
Col28a1	T	A	6: 8,158,144 (GRCm39)	M305L	probably benign	Het
Cyp2c50	T	C	19: 40,101,944 (GRCm39)	L453S	probably damaging	Het
Ddx52	T	G	11: 83,840,508 (GRCm39)	S284A	probably benign	Het
Eif2ak4	G	T	2: 118,219,332 (GRCm39)	R48L	probably benign	Het
Esrrb	A	G	12: 86,561,175 (GRCm39)	E303G	possibly damaging	Het
Fbxo21	A	G	5: 118,114,933 (GRCm39)	E23G	probably benign	Het
Fcamr	T	C	1: 130,739,263 (GRCm39)	S188P	probably damaging	Het
Fer1l6	C	A	15: 58,462,399 (GRCm39)	S818*	probably null	Het
Fn1	T	C	1: 71,687,218 (GRCm39)	D213G	probably damaging	Het
Gcg	A	G	2: 62,306,069 (GRCm39)	I176T	possibly damaging	Het
Glis1	T	A	4: 107,425,279 (GRCm39)	S109T	probably benign	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Gm5070	C	A	3: 95,317,965 (GRCm39)		noncoding transcript	Het
Gm8444	T	C	15: 81,727,654 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,356,198 (GRCm39)	T117A	probably damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,430 (GRCm39)		noncoding transcript	Het
Herc2	T	A	7: 55,880,667 (GRCm39)	F4766L	probably damaging	Het
Inhbc	C	A	10: 127,193,411 (GRCm39)	E202*	probably null	Het
Kcnu1	C	T	8: 26,339,742 (GRCm39)	T20I	possibly damaging	Het
Klhdc3	T	C	17: 46,988,391 (GRCm39)	D161G	probably damaging	Het
Krt84	T	A	15: 101,438,647 (GRCm39)	K280M	probably damaging	Het
Krtap9-5	T	A	11: 99,839,895 (GRCm39)	C199S	unknown	Het
Mrgprb3	A	G	7: 48,293,110 (GRCm39)	V147A	probably benign	Het
Ndufs6	A	T	13: 73,475,553 (GRCm39)	F48L	probably damaging	Het
Obscn	T	C	11: 58,970,476 (GRCm39)	S2586G	probably damaging	Het
Or10n1	A	G	9: 39,525,759 (GRCm39)	R299G	probably benign	Het
Or13c7b	C	A	4: 43,820,912 (GRCm39)	V150L	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Osbpl6	A	G	2: 76,414,857 (GRCm39)	D416G	probably damaging	Het
Pdilt	A	G	7: 119,099,766 (GRCm39)		probably benign	Het
Phf12	C	A	11: 77,913,252 (GRCm39)	D401E	probably benign	Het
Pla2r1	C	T	2: 60,259,065 (GRCm39)	V1108M	possibly damaging	Het
Prim2	A	G	1: 33,519,487 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,701,947 (GRCm39)	H406R	probably benign	Het
Qpctl	G	T	7: 18,877,132 (GRCm39)	H329N	probably damaging	Het
Ripk3	T	A	14: 56,022,755 (GRCm39)	N390Y	probably damaging	Het
Rnase1	A	G	14: 51,382,907 (GRCm39)	V149A	probably benign	Het
Rtn3	T	A	19: 7,434,192 (GRCm39)	D581V	probably damaging	Het
Slamf1	A	G	1: 171,602,630 (GRCm39)	Y119C	probably damaging	Het
Slc25a34	A	G	4: 141,350,973 (GRCm39)	M12T	probably benign	Het
Tmem38a	A	G	8: 73,333,944 (GRCm39)	Y141C	probably damaging	Het
Tnr	C	T	1: 159,714,500 (GRCm39)	T793I	possibly damaging	Het
Tns3	T	C	11: 8,443,211 (GRCm39)	D384G	probably damaging	Het
Vmn2r116	T	A	17: 23,606,281 (GRCm39)	Y398N	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het

Other mutations in Cpb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Cpb1	APN	3	20,306,193 (GRCm39)	missense	probably benign	0.00
IGL01061:Cpb1	APN	3	20,320,680 (GRCm39)	missense	probably benign	0.06
IGL01376:Cpb1	APN	3	20,324,488 (GRCm39)	missense	probably benign	0.00
IGL01409:Cpb1	APN	3	20,303,969 (GRCm39)	missense	possibly damaging	0.51
IGL01505:Cpb1	APN	3	20,320,410 (GRCm39)	missense	probably damaging	1.00
IGL01599:Cpb1	APN	3	20,306,118 (GRCm39)	critical splice donor site	probably null
IGL01672:Cpb1	APN	3	20,329,585 (GRCm39)	missense	probably null	0.34
IGL02421:Cpb1	APN	3	20,306,148 (GRCm39)	missense	probably damaging	1.00
IGL02685:Cpb1	APN	3	20,319,520 (GRCm39)	missense	probably damaging	1.00
IGL02825:Cpb1	APN	3	20,303,889 (GRCm39)	missense	probably damaging	1.00
IGL02929:Cpb1	APN	3	20,329,630 (GRCm39)	missense	probably benign	0.00
IGL03229:Cpb1	APN	3	20,304,001 (GRCm39)	nonsense	probably null
R0106:Cpb1	UTSW	3	20,320,697 (GRCm39)	splice site	probably null
R0106:Cpb1	UTSW	3	20,320,697 (GRCm39)	splice site	probably null
R0485:Cpb1	UTSW	3	20,329,792 (GRCm39)	missense	unknown
R0609:Cpb1	UTSW	3	20,316,638 (GRCm39)	missense	probably damaging	1.00
R0622:Cpb1	UTSW	3	20,303,982 (GRCm39)	missense	probably damaging	1.00
R0676:Cpb1	UTSW	3	20,320,697 (GRCm39)	splice site	probably null
R0829:Cpb1	UTSW	3	20,306,107 (GRCm39)	splice site	probably benign
R0981:Cpb1	UTSW	3	20,329,654 (GRCm39)	missense	probably benign	0.29
R1496:Cpb1	UTSW	3	20,317,696 (GRCm39)	missense	probably damaging	0.99
R1535:Cpb1	UTSW	3	20,320,451 (GRCm39)	missense	probably benign	0.19
R1607:Cpb1	UTSW	3	20,317,946 (GRCm39)	missense	probably benign	0.03
R1707:Cpb1	UTSW	3	20,329,655 (GRCm39)	missense	probably damaging	0.99
R1753:Cpb1	UTSW	3	20,320,405 (GRCm39)	missense	possibly damaging	0.67
R1866:Cpb1	UTSW	3	20,317,920 (GRCm39)	missense	probably benign	0.00
R2177:Cpb1	UTSW	3	20,320,611 (GRCm39)	missense	probably benign	0.41
R2234:Cpb1	UTSW	3	20,329,629 (GRCm39)	missense	probably benign	0.04
R3110:Cpb1	UTSW	3	20,319,521 (GRCm39)	missense	probably damaging	1.00
R3112:Cpb1	UTSW	3	20,319,521 (GRCm39)	missense	probably damaging	1.00
R4353:Cpb1	UTSW	3	20,316,708 (GRCm39)	missense	probably benign	0.07
R4405:Cpb1	UTSW	3	20,317,733 (GRCm39)	missense	probably benign	0.00
R4485:Cpb1	UTSW	3	20,303,865 (GRCm39)	missense	probably benign	0.00
R4734:Cpb1	UTSW	3	20,317,876 (GRCm39)	missense	probably benign	0.43
R4984:Cpb1	UTSW	3	20,324,516 (GRCm39)	frame shift	probably null
R6377:Cpb1	UTSW	3	20,329,748 (GRCm39)	critical splice donor site	probably null
R6441:Cpb1	UTSW	3	20,303,978 (GRCm39)	missense	probably damaging	1.00
R7175:Cpb1	UTSW	3	20,317,927 (GRCm39)	missense	probably benign	0.00
R7488:Cpb1	UTSW	3	20,324,488 (GRCm39)	missense	possibly damaging	0.46
R8288:Cpb1	UTSW	3	20,319,531 (GRCm39)	nonsense	probably null
R9260:Cpb1	UTSW	3	20,316,638 (GRCm39)	missense	probably damaging	1.00
R9568:Cpb1	UTSW	3	20,320,697 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CAAAATTTCTGTTGGGGTCTACACC -3'
(R):5'- TTAAATGCAGACTGGCCATGAG -3'

Sequencing Primer
(F):5'- CAGGAACTTCCAGCCGTAGTAG -3'
(R):5'- CCATGAGGCAGAGAACCCTG -3'

Posted On

2016-12-15