Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Ctsb'

152020

Institutional Source

Beutler Lab

Gene Symbol

Ctsb

Ensembl Gene

ENSMUSG00000021939

Gene Name

cathepsin B

Synonyms

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R1241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63359911-63383372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63376553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 261 (T261N)

Ref Sequence

ENSEMBL: ENSMUSP00000006235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006235]

AlphaFold

P10605

Predicted Effect

probably benign
Transcript: ENSMUST00000006235
AA Change: T261N

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: T261N

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Propeptide_C1	26	65	5.4e-22	PFAM
Pept_C1	80	329	1.12e-97	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225540

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase C1 family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to generate the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. Homozygous knockout mice for this gene exhibit reduced pancreatic damage following induced pancreatitis and reduced hepatocyte apoptosis in a model of liver injury. Pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations are born normal without gross abnormalities. Homozygous mutant has resistance to induced pancreatitis. In combination with Ctsl^tm1Cptr, double homozygous mutant shows postnatal lethality due to wide neuronal degeneration in brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
9030619P08Rik	A	C	15: 75,301,846 (GRCm39)		noncoding transcript	Het
Aldh1l2	T	C	10: 83,331,889 (GRCm39)	I639V	probably benign	Het
Ambra1	T	C	2: 91,601,241 (GRCm39)		probably benign	Het
Ap5z1	T	C	5: 142,455,869 (GRCm39)	Y299H	probably damaging	Het
Atp6v1b1	A	T	6: 83,733,526 (GRCm39)		probably benign	Het
Atr	G	A	9: 95,832,689 (GRCm39)	V2574I	probably benign	Het
Atxn1l	T	A	8: 110,459,612 (GRCm39)	T217S	probably benign	Het
Ccdc85a	A	G	11: 28,346,150 (GRCm39)	S89P	probably benign	Het
Ccn5	T	A	2: 163,670,997 (GRCm39)	M168K	unknown	Het
Cd209e	A	T	8: 3,899,124 (GRCm39)	I196N	probably damaging	Het
Cdhr4	A	G	9: 107,872,495 (GRCm39)	S247G	probably benign	Het
Cntn6	A	T	6: 104,809,470 (GRCm39)	I502F	probably damaging	Het
Crisp4	T	C	1: 18,193,018 (GRCm39)	Y233C	probably damaging	Het
Ctsk	T	C	3: 95,408,185 (GRCm39)	F14L	probably benign	Het
Dchs1	T	C	7: 105,407,385 (GRCm39)	I2110V	probably damaging	Het
Dennd5b	A	G	6: 148,969,988 (GRCm39)	M155T	probably benign	Het
Echdc3	T	C	2: 6,217,611 (GRCm39)	D54G	probably benign	Het
Egln3	G	A	12: 54,228,479 (GRCm39)	T209I	probably damaging	Het
Fbn1	A	C	2: 125,214,447 (GRCm39)		probably benign	Het
Fkbp15	A	T	4: 62,222,846 (GRCm39)	S1018T	possibly damaging	Het
Flnb	T	C	14: 7,896,503 (GRCm38)	I898T	probably benign	Het
Flt1	T	A	5: 147,536,456 (GRCm39)	Y795F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,267,614 (GRCm39)	E417G	probably damaging	Het
Fryl	A	G	5: 73,222,268 (GRCm39)		probably benign	Het
Gcnt3	T	C	9: 69,941,615 (GRCm39)	I318V	probably benign	Het
Gm11437	T	A	11: 84,055,454 (GRCm39)	H54L	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Jarid2	G	A	13: 45,038,368 (GRCm39)		probably benign	Het
Kif5b	A	T	18: 6,214,044 (GRCm39)	V653E	probably benign	Het
Kmt2b	A	G	7: 30,274,365 (GRCm39)	V2113A	probably damaging	Het
Knl1	C	T	2: 118,903,054 (GRCm39)	T1585I	probably benign	Het
Mlxipl	T	A	5: 135,161,572 (GRCm39)	M497K	probably benign	Het
Mre11a	T	A	9: 14,710,935 (GRCm39)	W210R	probably damaging	Het
Mrps22	A	G	9: 98,476,748 (GRCm39)	V207A	probably benign	Het
Myo15a	A	G	11: 60,390,256 (GRCm39)	I2111V	possibly damaging	Het
Myo1a	C	T	10: 127,555,148 (GRCm39)	P838L	probably benign	Het
Nbea	T	A	3: 55,965,461 (GRCm39)	H484L	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nlrp2	T	A	7: 5,331,430 (GRCm39)	D322V	probably damaging	Het
Nrcam	T	C	12: 44,636,947 (GRCm39)	C1057R	probably damaging	Het
Ntsr1	T	C	2: 180,142,394 (GRCm39)	S62P	probably damaging	Het
Nudt18	A	G	14: 70,816,867 (GRCm39)	H157R	probably benign	Het
Or10s1	C	A	9: 39,986,192 (GRCm39)	N200K	probably damaging	Het
Or5g25	T	A	2: 85,477,904 (GRCm39)	T254S	probably damaging	Het
Sidt2	T	C	9: 45,857,002 (GRCm39)	T435A	probably damaging	Het
Snx27	T	C	3: 94,427,540 (GRCm39)	T312A	probably benign	Het
Srebf2	T	C	15: 82,061,720 (GRCm39)	S429P	probably damaging	Het
Suclg2	A	G	6: 95,474,563 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,279 (GRCm39)	E573V	unknown	Het
Tdrd1	A	G	19: 56,850,192 (GRCm39)	T985A	probably benign	Het
Ttc7b	A	G	12: 100,369,698 (GRCm39)	I357T	possibly damaging	Het
Ttn	T	C	2: 76,626,008 (GRCm39)	E13271G	probably damaging	Het
Usp13	A	G	3: 32,969,857 (GRCm39)	E661G	probably damaging	Het
Vasp	T	G	7: 18,992,958 (GRCm39)		probably benign	Het
Vmn2r109	A	T	17: 20,775,503 (GRCm39)	Y75N	possibly damaging	Het
Vmn2r15	T	A	5: 109,440,770 (GRCm39)	N363Y	probably damaging	Het
Vmn2r60	T	A	7: 41,786,476 (GRCm39)	N426K	probably benign	Het
Znhit2	C	A	19: 6,112,288 (GRCm39)	N344K	probably damaging	Het

Other mutations in Ctsb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Ctsb	APN	14	63,373,099 (GRCm39)	missense	probably damaging	0.99
IGL02565:Ctsb	APN	14	63,375,859 (GRCm39)	missense	probably null	1.00
IGL03011:Ctsb	APN	14	63,370,806 (GRCm39)	missense	probably benign	0.13
R0001:Ctsb	UTSW	14	63,373,071 (GRCm39)	missense	probably benign	0.00
R1226:Ctsb	UTSW	14	63,379,189 (GRCm39)	missense	probably damaging	1.00
R1533:Ctsb	UTSW	14	63,376,544 (GRCm39)	missense	probably damaging	1.00
R4179:Ctsb	UTSW	14	63,370,901 (GRCm39)	missense	probably benign	0.01
R6042:Ctsb	UTSW	14	63,379,305 (GRCm39)	missense	probably damaging	1.00
R6396:Ctsb	UTSW	14	63,375,550 (GRCm39)	missense	probably benign	0.04
R7422:Ctsb	UTSW	14	63,379,752 (GRCm39)	missense	probably benign	0.00
R7472:Ctsb	UTSW	14	63,375,550 (GRCm39)	missense	probably benign	0.04
R7573:Ctsb	UTSW	14	63,375,550 (GRCm39)	missense	probably benign	0.04
R7721:Ctsb	UTSW	14	63,370,765 (GRCm39)	splice site	probably benign
R8498:Ctsb	UTSW	14	63,370,881 (GRCm39)	missense	probably benign	0.13
R9184:Ctsb	UTSW	14	63,375,544 (GRCm39)	missense	probably damaging	1.00
R9229:Ctsb	UTSW	14	63,373,112 (GRCm39)	missense	probably damaging	1.00
R9287:Ctsb	UTSW	14	63,370,875 (GRCm39)	missense	probably benign	0.41
R9472:Ctsb	UTSW	14	63,379,186 (GRCm39)	missense	probably damaging	1.00
R9665:Ctsb	UTSW	14	63,370,917 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGAACAGAGATGCACACTGCATAC -3'
(R):5'- TGACCACTGTCAAATGTGGATGAGAC -3'

Sequencing Primer
(F):5'- GATGCACACTGCATACTTTGTTTG -3'
(R):5'- caccaccactaccaccac -3'

Posted On

2014-01-29