Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Ctsk'

151983

Institutional Source

Beutler Lab

Gene Symbol

Ctsk

Ensembl Gene

ENSMUSG00000028111

Gene Name

cathepsin K

Synonyms

Cat K, catK

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95406567-95416673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95408185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 14 (F14L)

Ref Sequence

ENSEMBL: ENSMUSP00000015664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015664] [ENSMUST00000090804] [ENSMUST00000107161]

AlphaFold

P55097

Predicted Effect

probably benign
Transcript: ENSMUST00000015664
AA Change: F14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015664
Gene: ENSMUSG00000028111
AA Change: F14L

Domain	Start	End	E-Value	Type
Inhibitor_I29	26	86	1.48e-22	SMART
Pept_C1	115	328	4.25e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090804

SMART Domains

Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
HLH	80	133	1e-14	SMART
PAS	148	215	1.51e-10	SMART
low complexity region	236	247	N/A	INTRINSIC
PAS	337	402	1.55e-7	SMART
PAC	409	452	1.95e-4	SMART
low complexity region	710	723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107161

SMART Domains

Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
HLH	80	133	1e-14	SMART
PAS	148	215	1.51e-10	SMART
low complexity region	236	247	N/A	INTRINSIC
PAS	337	402	1.55e-7	SMART
PAC	409	452	1.95e-4	SMART
low complexity region	694	707	N/A	INTRINSIC

Meta Mutation Damage Score

0.0607

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 cathepsin family of cysteine proteases that is highly expressed in osteoclasts and is involved in the degradation of collagen and other matrix proteins in bone. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme. Mice lacking the encoded protein exhibit phenotypic features of pycnodysostosis such as increased bone density and bone deformity, which become progressively more pronounced with age. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene survive well and are fertile. They have osteopetrosis, reduced levels of thyroxine and increased pulmonary fibrosis. [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
Ctsb	C	A	14: 63,376,553 (GRCm39)	T261N	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 Ctsk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03149:Ctsk	APN	3	95,408,730 (GRCm39)	missense	possibly damaging	0.73
R0255:Ctsk	UTSW	3	95,416,188 (GRCm39)	missense	probably benign	0.00
R0362:Ctsk	UTSW	3	95,408,255 (GRCm39)	missense	probably damaging	1.00
R2014:Ctsk	UTSW	3	95,414,003 (GRCm39)	missense	probably damaging	1.00
R2110:Ctsk	UTSW	3	95,413,988 (GRCm39)	missense	probably benign	0.35
R5597:Ctsk	UTSW	3	95,409,007 (GRCm39)	missense	probably damaging	0.99
R5990:Ctsk	UTSW	3	95,408,767 (GRCm39)	missense	probably damaging	1.00
R6363:Ctsk	UTSW	3	95,408,862 (GRCm39)	missense	probably damaging	1.00
R6754:Ctsk	UTSW	3	95,409,996 (GRCm39)	missense	probably damaging	1.00
R7142:Ctsk	UTSW	3	95,414,259 (GRCm39)	missense	possibly damaging	0.83
R7610:Ctsk	UTSW	3	95,408,155 (GRCm39)	missense	probably benign
R7670:Ctsk	UTSW	3	95,408,925 (GRCm39)	missense	probably benign	0.00
X0005:Ctsk	UTSW	3	95,408,249 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTGCCTGTCTCACAGTCAAATG -3'
(R):5'- AAGTGTTCCTTAAAAGAGCCTTCCCC -3'

Sequencing Primer
(F):5'- acaggggagagggggtag -3'
(R):5'- gaccagccatccgttcc -3'

Posted On

2014-01-29