Mutagenetix > Incidental Mutations

Incidental Mutation 'R0025:Ctss'

40752

Institutional Source

Beutler Lab

Gene Symbol

Ctss

Ensembl Gene

ENSMUSG00000038642

Gene Name

cathepsin S

Synonyms

Cat S

MMRRC Submission

038320-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R0025 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95526786-95556403 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95550137 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 302 (Y302C)

Ref Sequence

ENSEMBL: ENSMUSP00000112006 (fasta)

Gene Model

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

PDB Structure

[]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
Mouse cathepsin s with covalent ligand (3S,4S)-N-[(2E)-2-IMINOETHYL]-4-(MORPHOLIN-4-YLCARBONYL)-1-(PHENYLSULFONYL)PYRROLIDINE-3-CARBOXAMIDE [X-RAY DIFFRACTION]
Mouse cathepsin s with covalent ligand (3S,4S)-1-[(2-CHLOROPHENYL)SULFONYL]-N-[(2E)-2-IMINOETHYL]-4-(MORPHOLIN-4-YLCARBONYL)PYRROLIDINE-3-CARBOXAMIDE [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000015667
AA Change: Y303C

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

SMART Domains

Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: Y303C

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

probably damaging
Transcript: ENSMUST00000116304
AA Change: Y302C

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

SMART Domains

Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: Y302C

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

Meta Mutation Damage Score

0.9450

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

98% (115/117)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 76,000,115		probably benign	Het
Acsm1	A	T	7: 119,658,315	T435S	probably damaging	Het
Agtpbp1	G	A	13: 59,500,200	T602I	probably benign	Het
Ahnak2	T	A	12: 112,785,534	D231V	probably damaging	Het
Ampd3	G	A	7: 110,793,669	D215N	probably benign	Het
Ankrd17	T	C	5: 90,250,405	D1762G	probably damaging	Het
Asb8	C	T	15: 98,142,671	V37I	possibly damaging	Het
Bicra	T	C	7: 15,987,511	T694A	possibly damaging	Het
Btnl6	A	T	17: 34,514,299	M234K	probably benign	Het
Ccnb1	A	T	13: 100,779,781	V336D	probably damaging	Het
Cdca8	A	T	4: 124,921,254	L190Q	possibly damaging	Het
Cep290	A	T	10: 100,537,831	L1324F	probably damaging	Het
Ces1f	T	C	8: 93,271,885	E161G	probably benign	Het
Ces2g	A	G	8: 104,965,996		probably benign	Het
Cfap74	C	T	4: 155,426,115	R386C	probably benign	Het
Clec3b	A	G	9: 123,157,025	T163A	probably benign	Het
Cntnap4	T	G	8: 112,803,164	L668R	probably damaging	Het
Col27a1	A	G	4: 63,275,977	D857G	probably damaging	Het
Csf1	A	G	3: 107,748,644	V245A	probably benign	Het
Cyb5d1	A	G	11: 69,394,966		probably null	Het
Cyp1a2	A	G	9: 57,682,061	S157P	probably damaging	Het
Cyp2b9	A	T	7: 26,200,813	T349S	probably benign	Het
Dennd6b	T	C	15: 89,186,183	I428V	probably benign	Het
Denr	A	G	5: 123,927,235		probably benign	Het
Dnah9	G	A	11: 65,969,955		probably benign	Het
Dock3	G	T	9: 106,913,268	Q1419K	possibly damaging	Het
Dph3b-ps	A	T	13: 106,546,867		noncoding transcript	Het
Emc7	G	T	2: 112,459,485	D87Y	probably damaging	Het
Enah	T	C	1: 181,913,373	E462G	possibly damaging	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Enpp6	A	G	8: 47,066,000	K268E	probably damaging	Het
Eps15l1	T	G	8: 72,381,497		probably benign	Het
Fam151a	T	C	4: 106,748,174	Y578H	probably benign	Het
Fmn2	T	C	1: 174,791,314	V1512A	probably damaging	Het
Focad	C	A	4: 88,408,959	N168K	probably benign	Het
Fyco1	A	G	9: 123,829,009	C701R	probably damaging	Het
Gabbr1	G	T	17: 37,067,210		probably benign	Het
Golga7b	A	T	19: 42,266,839	E76V	probably damaging	Het
Gucy2d	A	G	7: 98,467,752	D924G	probably benign	Het
H2-M9	A	G	17: 36,641,755	F133S	probably damaging	Het
Hc	A	G	2: 34,986,292	Y1581H	probably damaging	Het
Herc3	C	T	6: 58,874,308	P514L	probably damaging	Het
Hormad1	T	C	3: 95,585,125		probably benign	Het
Iigp1	T	A	18: 60,390,787	S326T	possibly damaging	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Kcnk7	T	G	19: 5,707,014	*344G	probably null	Het
Kif13a	A	G	13: 46,786,511		probably null	Het
Kif1a	A	C	1: 93,042,358	I1027S	probably damaging	Het
Kif2c	G	T	4: 117,165,517	H416Q	probably damaging	Het
Map3k1	A	G	13: 111,756,129	V864A	probably benign	Het
Mark2	T	C	19: 7,285,922	D160G	probably damaging	Het
Mbd4	A	G	6: 115,844,568		probably null	Het
Micu1	A	G	10: 59,788,877		probably null	Het
Mink1	T	C	11: 70,613,042	W1263R	probably damaging	Het
Mov10	A	C	3: 104,804,603	L224R	probably damaging	Het
Ndel1	T	C	11: 68,836,173	E226G	probably damaging	Het
Neb	A	T	2: 52,222,774	V4336E	probably damaging	Het
Nln	T	A	13: 104,036,891	K602N	probably damaging	Het
Nlrp14	A	T	7: 107,181,258		probably benign	Het
Nmd3	A	T	3: 69,748,321	D445V	probably damaging	Het
Nop14	T	C	5: 34,643,953	I625V	probably benign	Het
Notch1	T	C	2: 26,470,931	Q1134R	probably damaging	Het
Nr4a2	T	C	2: 57,108,615	I392M	probably benign	Het
Olfr1310	T	A	2: 112,009,020	L55F	probably damaging	Het
Olfr702	A	G	7: 106,823,756	F257L	possibly damaging	Het
Olfr983	A	G	9: 40,092,253	S234P	probably damaging	Het
Osbp	T	C	19: 11,983,958	Y454H	probably damaging	Het
Pak4	G	A	7: 28,564,283	R343C	probably damaging	Het
Pak7	T	C	2: 136,100,784	K479E	possibly damaging	Het
Pard3	C	A	8: 127,161,308	D73E	probably damaging	Het
Pcdh10	T	C	3: 45,380,499	V416A	possibly damaging	Het
Plek	A	C	11: 16,985,594	W261G	probably damaging	Het
Pmp22	A	T	11: 63,158,250		probably null	Het
Prph2	A	C	17: 46,919,771	K197Q	probably benign	Het
Prss45	T	A	9: 110,840,894	L257Q	probably damaging	Het
Psmb6	C	A	11: 70,526,345	H73Q	probably benign	Het
Rin2	T	C	2: 145,878,832		probably benign	Het
Rps6kb1	A	T	11: 86,511,587		probably null	Het
Scn10a	C	A	9: 119,670,484	D248Y	probably damaging	Het
Scn4a	C	T	11: 106,324,560	V1197I	probably benign	Het
Siglecf	A	T	7: 43,351,925	I106F	probably benign	Het
Sik1	A	G	17: 31,847,275		probably benign	Het
Slc22a21	T	G	11: 53,979,688	N57T	probably damaging	Het
Slc36a2	A	G	11: 55,162,795	L339P	probably damaging	Het
Slc4a9	G	T	18: 36,531,666		probably benign	Het
Smg1	G	A	7: 118,212,443	T104I	possibly damaging	Het
Stc2	A	T	11: 31,365,559		probably null	Het
Stx18	T	A	5: 38,092,564	Y74N	probably damaging	Het
Stxbp5	A	T	10: 9,762,748	H1102Q	probably damaging	Het
Tnfaip8l2	G	A	3: 95,140,028	L175F	probably damaging	Het
Tom1l2	T	C	11: 60,230,134	K450E	probably damaging	Het
Tpo	T	C	12: 30,100,390	Q497R	probably benign	Het
Tprgl	G	T	4: 154,160,345		probably benign	Het
Triml2	A	G	8: 43,185,432	M146V	probably benign	Het
Tsc2	A	G	17: 24,631,004		probably benign	Het
Vit	G	A	17: 78,599,835	G229R	probably benign	Het
Vmn2r19	C	T	6: 123,331,547	L528F	probably benign	Het
Vwf	T	A	6: 125,682,812	I2658N	probably benign	Het
Wdfy3	T	C	5: 101,845,046	D3341G	probably damaging	Het
Wdr36	T	A	18: 32,859,307	D632E	probably damaging	Het
Wdr47	G	T	3: 108,637,991	A733S	probably damaging	Het
Zcchc6	A	T	13: 59,805,328	D99E	probably benign	Het
Zfp458	T	A	13: 67,257,898	H156L	probably damaging	Het
Zfp654	A	G	16: 64,784,818	V466A	probably benign	Het
Zfp804b	T	C	5: 6,771,665	E466G	probably damaging	Het
Zfp941	T	C	7: 140,813,272	D58G	probably benign	Het

Other mutations in Ctss

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Ctss	APN	3	95538725	missense	probably damaging	1.00
IGL02162:Ctss	APN	3	95546821	missense	probably benign	0.26
IGL03026:Ctss	APN	3	95538830	missense	probably benign	0.01
IGL03219:Ctss	APN	3	95543100	missense	possibly damaging	0.88
clip	UTSW	3	95545384	nonsense	probably null
R0025:Ctss	UTSW	3	95550137	missense	probably damaging	1.00
R0033:Ctss	UTSW	3	95545577	splice site	probably benign
R0033:Ctss	UTSW	3	95545577	splice site	probably benign
R1844:Ctss	UTSW	3	95546794	critical splice acceptor site	probably null
R2866:Ctss	UTSW	3	95545406	missense	probably benign	0.04
R4061:Ctss	UTSW	3	95543034	missense	probably benign	0.34
R4846:Ctss	UTSW	3	95545384	nonsense	probably null
R5917:Ctss	UTSW	3	95543113	missense	probably benign	0.00
R6443:Ctss	UTSW	3	95546803	missense	probably benign	0.00
R6555:Ctss	UTSW	3	95543029	nonsense	probably null
R7391:Ctss	UTSW	3	95529541	missense	probably benign
R8007:Ctss	UTSW	3	95550154	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCAGAAAGCTACAATATGCACTGAG -3'
(R):5'- GGGCTTTGTAAGAAGCTACAAATGCAC -3'

Sequencing Primer
(F):5'- ATGGGTCAGTCCCAAACTTG -3'
(R):5'- AAATGCACATCCTTGCTGCTATG -3'

Posted On

2013-05-23