Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Ctsk'

592084

Institutional Source

Beutler Lab

Gene Symbol

Ctsk

Ensembl Gene

ENSMUSG00000028111

Gene Name

cathepsin K

Synonyms

Cat K, catK

MMRRC Submission

045742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95406567-95416673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95408925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 103 (N103D)

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: N103D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000015664
Gene: ENSMUSG00000028111
AA Change: N103D

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

0.3937

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,023,190 (GRCm39)	H100L	probably benign	Het
Adgrf2	T	C	17: 43,022,263 (GRCm39)	N187S	probably damaging	Het
Adipoq	T	A	16: 22,976,332 (GRCm39)	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,373,845 (GRCm39)	S209T	probably benign	Het
Arrdc3	C	T	13: 81,037,212 (GRCm39)	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,579,865 (GRCm39)	N212D	probably benign	Het
Ccr9	A	T	9: 123,608,371 (GRCm39)	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,646 (GRCm39)	V270D	probably damaging	Het
Clic4	A	G	4: 134,944,516 (GRCm39)	Y220H	probably damaging	Het
Cntln	A	C	4: 84,897,577 (GRCm39)	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,538,925 (GRCm39)	V2457A	probably damaging	Het
Ddx60	T	C	8: 62,428,826 (GRCm39)	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,378 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,148,462 (GRCm39)	D279E	probably benign	Het
Eif1ad10	T	C	12: 88,216,524 (GRCm39)	N116S	probably benign	Het
Fam117a	A	G	11: 95,269,660 (GRCm39)	N308S	probably benign	Het
Fasn	A	G	11: 120,704,245 (GRCm39)	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,678,802 (GRCm39)	S625P	probably benign	Het
Gemin5	A	G	11: 58,038,754 (GRCm39)	V585A	probably benign	Het
Gm5145	C	A	17: 20,790,646 (GRCm39)	P8Q	probably benign	Het
Herc1	C	A	9: 66,323,629 (GRCm39)	T1381K	probably damaging	Het
Herc6	T	C	6: 57,637,107 (GRCm39)	I824T	probably damaging	Het
Klrb1	C	T	6: 128,687,050 (GRCm39)	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,799,258 (GRCm39)	N154D	not run	Het
Lcp1	A	T	14: 75,437,871 (GRCm39)	I94F	probably benign	Het
Lin7a	A	T	10: 107,218,552 (GRCm39)	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,846,351 (GRCm39)	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,834,517 (GRCm39)	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015 (GRCm39)	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nme8	T	C	13: 19,842,999 (GRCm39)	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,349,414 (GRCm39)		probably null	Het
Nuggc	A	G	14: 65,850,975 (GRCm39)	I298V	probably damaging	Het
Nup155	A	C	15: 8,183,180 (GRCm39)	K1247Q	probably damaging	Het
Or1a1	A	G	11: 74,087,033 (GRCm39)	K235E	probably damaging	Het
Or5c1	A	T	2: 37,221,771 (GRCm39)	E4V	probably benign	Het
Otud4	T	A	8: 80,382,493 (GRCm39)		probably null	Het
Pacc1	A	G	1: 191,073,065 (GRCm39)	N162S	probably benign	Het
Pcdhb18	T	C	18: 37,624,749 (GRCm39)	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,727,210 (GRCm39)	F1108L	probably benign	Het
Prkca	A	T	11: 107,905,170 (GRCm39)	N189K	probably damaging	Het
Rbm24	A	G	13: 46,582,683 (GRCm39)	I201V	probably benign	Het
Reep6	T	C	10: 80,169,627 (GRCm39)	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,126 (GRCm39)		probably benign	Het
Rev3l	C	T	10: 39,712,718 (GRCm39)	T2382I	probably benign	Het
Rnf31	A	G	14: 55,831,818 (GRCm39)	N230S	probably benign	Het
Rreb1	T	C	13: 38,115,548 (GRCm39)	L969P	probably benign	Het
Rsph4a	T	A	10: 33,785,029 (GRCm39)	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,183,525 (GRCm39)	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,758,157 (GRCm39)	V232D	probably damaging	Het
Stmn2	T	C	3: 8,619,925 (GRCm39)	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424 (GRCm39)	G1373D	probably damaging	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tns1	C	A	1: 73,991,636 (GRCm39)	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620 (GRCm38)	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,373,324 (GRCm39)	C768*	probably null	Het
Ubl7	A	T	9: 57,837,052 (GRCm39)	E354D	probably benign	Het
Ush2a	T	C	1: 188,516,905 (GRCm39)	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,340,917 (GRCm39)	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,753,077 (GRCm39)	L402P	probably damaging	Het
Zfp27	T	A	7: 29,594,221 (GRCm39)	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,105,903 (GRCm39)		probably benign	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
R1241:Ctsk	UTSW	3	95,408,185 (GRCm39)	missense	probably benign
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
X0005:Ctsk	UTSW	3	95,408,249 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAATCTCTGCCCATAACCTGG -3'
(R):5'- ATTACCACAGATGCGTGCG -3'

Sequencing Primer
(F):5'- GGTGTCCATACATATGAACTGGCC -3'
(R):5'- GACTGGAGTAACGTATCCT -3'

Posted On

2019-11-12