Mutagenetix > Incidental Mutation

Incidental Mutation 'R6042:Ctsb'

483628

Institutional Source

Beutler Lab

Gene Symbol

Ctsb

Ensembl Gene

ENSMUSG00000021939

Gene Name

cathepsin B

Synonyms

MMRRC Submission

044210-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R6042 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

63359911-63383372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63379305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 306 (D306Y)

Ref Sequence

ENSEMBL: ENSMUSP00000006235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006235] [ENSMUST00000054963] [ENSMUST00000224625]

AlphaFold

P10605

Predicted Effect

probably damaging
Transcript: ENSMUST00000006235
AA Change: D306Y

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

SMART Domains

Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: D306Y

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

probably benign
Transcript: ENSMUST00000054963

SMART Domains

Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273

Domain	Start	End	E-Value	Type
Pfam:SQS_PSY	47	320	2.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225540

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,224,023 (GRCm39)	K478M	probably benign	Het
Ankar	G	T	1: 72,713,213 (GRCm39)	S474*	probably null	Het
Barx2	C	A	9: 31,758,199 (GRCm39)	E246D	probably benign	Het
Cdh20	A	T	1: 110,065,997 (GRCm39)	Q757L	probably damaging	Het
Cnr1	T	C	4: 33,944,751 (GRCm39)	F380L	probably damaging	Het
Cntnap5b	G	A	1: 100,318,317 (GRCm39)	A655T	probably benign	Het
Col2a1	T	A	15: 97,898,451 (GRCm39)		probably benign	Het
Crybg3	C	T	16: 59,370,838 (GRCm39)	R2340Q	possibly damaging	Het
Cyp2a22	A	C	7: 26,633,664 (GRCm39)	Y349D	probably damaging	Het
Dcpp2	T	C	17: 24,117,886 (GRCm39)	L22S	probably damaging	Het
Dnah8	G	T	17: 30,966,239 (GRCm39)	M2476I	probably damaging	Het
Dst	A	G	1: 34,228,053 (GRCm39)	E1882G	probably damaging	Het
Esrp1	T	C	4: 11,357,580 (GRCm39)	K511E	possibly damaging	Het
Fat3	T	A	9: 16,289,113 (GRCm39)	T137S	probably benign	Het
Fbxw24	T	A	9: 109,436,079 (GRCm39)	M318L	probably benign	Het
Fpr-rs7	T	A	17: 20,333,477 (GRCm39)	T338S	probably benign	Het
Gcgr	T	C	11: 120,425,584 (GRCm39)	M1T	probably null	Het
Grifin	C	A	5: 140,549,311 (GRCm39)	R135L	possibly damaging	Het
Helz	T	C	11: 107,504,946 (GRCm39)		probably null	Het
Hivep3	C	G	4: 119,955,061 (GRCm39)	Q1126E	possibly damaging	Het
Htr3a	T	A	9: 48,815,999 (GRCm39)	H146L	probably damaging	Het
Lama3	T	A	18: 12,707,311 (GRCm39)	V3081E	probably damaging	Het
Mgat5	T	A	1: 127,387,636 (GRCm39)	C531S	probably damaging	Het
Mical2	A	G	7: 111,979,619 (GRCm39)	D106G	probably benign	Het
Nectin2	C	T	7: 19,472,063 (GRCm39)	A109T	probably benign	Het
Olig3	T	C	10: 19,232,503 (GRCm39)	S43P	probably damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Or8b39	T	A	9: 37,996,390 (GRCm39)	V86E	probably damaging	Het
Pcdh12	T	C	18: 38,414,558 (GRCm39)	R856G	probably damaging	Het
Phpt1	T	A	2: 25,464,851 (GRCm39)	M1L	probably benign	Het
Polr2m	T	C	9: 71,391,080 (GRCm39)	I41V	probably damaging	Het
Pramel28	G	T	4: 143,692,631 (GRCm39)	D123E	probably benign	Het
Pzp	A	G	6: 128,500,977 (GRCm39)	V127A	possibly damaging	Het
Rgs7	G	T	1: 174,977,226 (GRCm39)	T126K	probably damaging	Het
RP23-399J5.1	T	C	8: 71,542,571 (GRCm39)		noncoding transcript	Het
Rras	A	T	7: 44,669,820 (GRCm39)	D112V	probably damaging	Het
Sdcbp2	T	A	2: 151,424,646 (GRCm39)	Y5*	probably null	Het
Slc43a2	T	C	11: 75,461,433 (GRCm39)	F462L	probably damaging	Het
Smchd1	T	A	17: 71,684,052 (GRCm39)	K1436*	probably null	Het
Snrnp27	A	C	6: 86,659,902 (GRCm39)	S31A	unknown	Het
Sqstm1	A	C	11: 50,098,251 (GRCm39)	F172V	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Syt10	G	A	15: 89,725,824 (GRCm39)	T50I	probably benign	Het
Syt16	T	C	12: 74,313,504 (GRCm39)	Y477H	probably damaging	Het
Tacr3	A	T	3: 134,638,153 (GRCm39)	T437S	probably benign	Het
Tg	G	A	15: 66,555,842 (GRCm39)	D845N	probably benign	Het
Uqcc1	G	T	2: 155,763,564 (GRCm39)	S36R	possibly damaging	Het
Vmn1r20	T	C	6: 57,409,391 (GRCm39)	V239A	possibly damaging	Het
Xpo7	T	A	14: 70,933,103 (GRCm39)	Q263L	possibly damaging	Het
Zfp442	T	C	2: 150,250,016 (GRCm39)	K572E	probably damaging	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	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
R1241:Ctsb	UTSW	14	63,376,553 (GRCm39)	missense	probably benign	0.28
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
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'- CCTATTCTGACTAGGTGGCTAGC -3'
(R):5'- ACTATCAGTTCTCGTCACATGC -3'

Sequencing Primer
(F):5'- CTTGGGAATCTGTGAGCAGGC -3'
(R):5'- CATGCTGCTCATGTGATGGAGC -3'

Posted On

2017-07-14