Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Ctss'

710925

Institutional Source

Beutler Lab

Gene Symbol

Ctss

Ensembl Gene

ENSMUSG00000038642

Gene Name

cathepsin S

Synonyms

Cat S

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R9398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95434097-95463714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95454258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 270 (F270S)

Ref Sequence

ENSEMBL: ENSMUSP00000015667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015667] [ENSMUST00000116304]

AlphaFold

O70370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015667
AA Change: F270S

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: F270S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Inhibitor_I29	39	99	2.3e-27	SMART
Pept_C1	126	342	2.3e-122	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116304
AA Change: F269S

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: F269S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Inhibitor_I29	36	96	3.01e-23	SMART
Pept_C1	123	339	6.79e-120	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, which encode preproproteins that are proteolytically processed to generate mature protein products. This enzyme is secreted by antigen-presenting cells during inflammation and may induce pain and itch via activation of G-protein coupled receptors. Homozygous knockout mice for this gene exhibit impaired wound healing, reduced tumorigenesis in a pancreatic cancer model, and reduced pathogenesis in a myasthenia gravis model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice are resistant to the development of experimental autoimmune myasthenia gravis and showed reduced T and B cell responses to acetylcholine receptor. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,034,924 (GRCm39)	K228*	probably null	Het
Adrb2	T	C	18: 62,312,276 (GRCm39)	D183G	probably benign	Het
Ap1m2	A	G	9: 21,216,935 (GRCm39)	Y134H	probably damaging	Het
Arid5a	A	G	1: 36,358,073 (GRCm39)	T217A	probably benign	Het
Cdnf	C	T	2: 3,522,075 (GRCm39)	T89I	possibly damaging	Het
Cntnap3	G	A	13: 65,051,648 (GRCm39)	R3W	probably benign	Het
Col6a6	A	G	9: 105,651,825 (GRCm39)	I1062T	probably benign	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,436,912 (GRCm39)	K69E	probably benign	Het
Dgkb	G	A	12: 38,189,657 (GRCm39)	G328D	probably damaging	Het
Dock1	C	T	7: 134,774,228 (GRCm39)	T1852M	probably damaging	Het
Gm19410	T	C	8: 36,272,356 (GRCm39)	Y1346H	probably benign	Het
Gprin1	G	T	13: 54,887,383 (GRCm39)	T297N	probably damaging	Het
Gramd1c	A	G	16: 43,833,381 (GRCm39)	F187S	probably damaging	Het
Gse1	A	G	8: 121,303,074 (GRCm39)	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,133,520 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,263,562 (GRCm39)	T897S	probably benign	Het
Igsf21	T	A	4: 139,973,762 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,452,605 (GRCm39)	I757V	probably damaging	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,013,208 (GRCm39)	C374W	unknown	Het
Mapk10	A	T	5: 103,061,152 (GRCm39)	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,755,462 (GRCm39)	D293E	possibly damaging	Het
Nf1	T	G	11: 79,438,018 (GRCm39)	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 19,783,435 (GRCm39)	L926P	probably damaging	Het
Notch2	G	A	3: 98,009,668 (GRCm39)	D532N	probably damaging	Het
Olfm4	A	T	14: 80,249,249 (GRCm39)	Y122F	probably benign	Het
Or52e19b	T	A	7: 103,032,487 (GRCm39)	T241S	probably damaging	Het
Or52r1	A	G	7: 102,537,000 (GRCm39)	M120T	probably damaging	Het
Or56a4	A	T	7: 104,806,006 (GRCm39)	Y294*	probably null	Het
Or5g24-ps1	T	C	2: 85,464,367 (GRCm39)	V198A	probably benign	Het
Or5p76	T	C	7: 108,123,035 (GRCm39)	T41A	probably damaging	Het
Or5t18	A	G	2: 86,637,160 (GRCm39)	L61P	possibly damaging	Het
P2rx2	A	T	5: 110,488,138 (GRCm39)	M472K	probably benign	Het
Pbxip1	A	G	3: 89,354,941 (GRCm39)	K487E	probably benign	Het
Plxnb2	A	G	15: 89,045,122 (GRCm39)	V1108A	probably benign	Het
Polq	A	G	16: 36,881,394 (GRCm39)	N1186S	probably benign	Het
Por	T	A	5: 135,754,597 (GRCm39)	W6R	unknown	Het
Prex2	G	A	1: 11,207,028 (GRCm39)	V529I	probably benign	Het
Rgs6	T	G	12: 82,698,615 (GRCm39)	S5A	probably benign	Het
Rp9	G	T	9: 22,360,082 (GRCm39)	S171*	probably null	Het
Sec11c	T	A	18: 65,942,568 (GRCm39)	I47N	possibly damaging	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,066,756 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,066,746 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,511 (GRCm39)	S137P	possibly damaging	Het
Sorcs1	A	G	19: 50,213,651 (GRCm39)	M692T	possibly damaging	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tcea2	A	G	2: 181,322,243 (GRCm39)	D15G	probably damaging	Het
Tep1	T	C	14: 51,066,429 (GRCm39)	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,784,404 (GRCm39)	Y1824*	probably null	Het
Ubqln5	T	C	7: 103,777,985 (GRCm39)	T280A	probably benign	Het
Ush1c	T	C	7: 45,869,934 (GRCm39)	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,311,056 (GRCm39)	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r86	A	G	7: 12,836,261 (GRCm39)	M205T	probably damaging	Het
Vps13d	A	T	4: 144,896,956 (GRCm39)	Y321*	probably null	Het

Other mutations in Ctss

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Ctss	APN	3	95,446,036 (GRCm39)	missense	probably damaging	1.00
IGL02162:Ctss	APN	3	95,454,132 (GRCm39)	missense	probably benign	0.26
IGL03026:Ctss	APN	3	95,446,141 (GRCm39)	missense	probably benign	0.01
IGL03219:Ctss	APN	3	95,450,411 (GRCm39)	missense	possibly damaging	0.88
clip	UTSW	3	95,452,695 (GRCm39)	nonsense	probably null
R0025:Ctss	UTSW	3	95,457,448 (GRCm39)	missense	probably damaging	1.00
R0025:Ctss	UTSW	3	95,457,448 (GRCm39)	missense	probably damaging	1.00
R0033:Ctss	UTSW	3	95,452,888 (GRCm39)	splice site	probably benign
R0033:Ctss	UTSW	3	95,452,888 (GRCm39)	splice site	probably benign
R1844:Ctss	UTSW	3	95,454,105 (GRCm39)	critical splice acceptor site	probably null
R2866:Ctss	UTSW	3	95,452,717 (GRCm39)	missense	probably benign	0.04
R4061:Ctss	UTSW	3	95,450,345 (GRCm39)	missense	probably benign	0.34
R4846:Ctss	UTSW	3	95,452,695 (GRCm39)	nonsense	probably null
R5917:Ctss	UTSW	3	95,450,424 (GRCm39)	missense	probably benign	0.00
R6443:Ctss	UTSW	3	95,454,114 (GRCm39)	missense	probably benign	0.00
R6555:Ctss	UTSW	3	95,450,340 (GRCm39)	nonsense	probably null
R7391:Ctss	UTSW	3	95,436,852 (GRCm39)	missense	probably benign
R8007:Ctss	UTSW	3	95,457,465 (GRCm39)	missense	probably null	1.00
R9088:Ctss	UTSW	3	95,436,867 (GRCm39)	missense	possibly damaging	0.48
R9356:Ctss	UTSW	3	95,454,120 (GRCm39)	missense	possibly damaging	0.88
R9522:Ctss	UTSW	3	95,454,109 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGGGAAGTTGAAGTAGACTTTATG -3'
(R):5'- AGGCAGATTAACTTTTGCATGGAG -3'

Sequencing Primer
(F):5'- AAGTTGAAGTAGACTTTATGGTTGG -3'
(R):5'- AGATTAACTTTTGCATGGAGGATTTG -3'

Posted On

2022-04-18