Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Ctse'

238473

Institutional Source

Beutler Lab

Gene Symbol

Ctse

Ensembl Gene

ENSMUSG00000004552

Gene Name

cathepsin E

Synonyms

A430072O03Rik, CE, C920004C08Rik, CatE

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131566052-131603245 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 131600185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 311 (Y311*)

Ref Sequence

ENSEMBL: ENSMUSP00000073072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073350] [ENSMUST00000112411]

AlphaFold

P70269

Predicted Effect

probably null
Transcript: ENSMUST00000073350
AA Change: Y311*

SMART Domains

Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: Y311*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:A1_Propeptide	22	50	7e-14	PFAM
Pfam:Asp	78	395	2.1e-129	PFAM
Pfam:TAXi_N	79	236	1.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112411

SMART Domains

Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:A1_Propeptide	22	50	2.7e-12	PFAM
Pfam:Asp	78	315	2e-99	PFAM
Pfam:TAXi_N	79	236	6.1e-14	PFAM
Pfam:Asp	310	362	6.8e-17	PFAM

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase A1 family of aspartate proteases and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. Homozygous knockout mice for this gene exhibit lysosomal storage disorder, impaired autophagy, mitochondrial abnormalities, dermatitis, and reduced weight gain in an obesity model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile, but develop skin lesions on the face, ears, neck and dorsal skin which are similar to those seen in human atopic dermatitis. [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
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	probably benign	Het

Other mutations in Ctse

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02151:Ctse	APN	1	131,600,273 (GRCm39)	missense	probably benign	0.00
IGL02492:Ctse	APN	1	131,595,972 (GRCm39)	missense	probably damaging	1.00
R0057:Ctse	UTSW	1	131,591,109 (GRCm39)	missense	probably damaging	1.00
R0057:Ctse	UTSW	1	131,591,109 (GRCm39)	missense	probably damaging	1.00
R0690:Ctse	UTSW	1	131,602,516 (GRCm39)	splice site	probably benign
R4190:Ctse	UTSW	1	131,590,479 (GRCm39)	missense	probably benign	0.02
R4668:Ctse	UTSW	1	131,590,487 (GRCm39)	missense	probably damaging	1.00
R4971:Ctse	UTSW	1	131,592,130 (GRCm39)	missense	probably damaging	1.00
R5070:Ctse	UTSW	1	131,595,917 (GRCm39)	missense	probably damaging	1.00
R5499:Ctse	UTSW	1	131,600,251 (GRCm39)	nonsense	probably null
R5705:Ctse	UTSW	1	131,592,112 (GRCm39)	missense	possibly damaging	0.82
R7207:Ctse	UTSW	1	131,592,112 (GRCm39)	missense	possibly damaging	0.82
R7828:Ctse	UTSW	1	131,590,491 (GRCm39)	missense	probably damaging	1.00
R8157:Ctse	UTSW	1	131,600,249 (GRCm39)	missense	probably damaging	1.00
R8237:Ctse	UTSW	1	131,590,467 (GRCm39)	missense	probably benign	0.01
R8270:Ctse	UTSW	1	131,595,877 (GRCm39)	missense	probably damaging	1.00
R8496:Ctse	UTSW	1	131,592,118 (GRCm39)	missense	probably damaging	1.00
R9229:Ctse	UTSW	1	131,595,862 (GRCm39)	missense	probably damaging	1.00
R9349:Ctse	UTSW	1	131,592,111 (GRCm39)	missense	probably benign	0.00
X0067:Ctse	UTSW	1	131,598,510 (GRCm39)	missense	probably damaging	1.00
Z1177:Ctse	UTSW	1	131,600,182 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACTGTGATGTTCTGCTCCG -3'
(R):5'- CTCATGTAGATGACTTTGAAGGGG -3'

Sequencing Primer
(F):5'- ATAGTGGACACAGGGACCTCTCTC -3'
(R):5'- TGACTTTGAAGGGGGAAGTGGC -3'

Posted On

2014-10-02