Mutagenetix > Incidental Mutation

Incidental Mutation 'R8237:Ctse'

637392

Institutional Source

Beutler Lab

Gene Symbol

Ctse

Ensembl Gene

ENSMUSG00000004552

Gene Name

cathepsin E

Synonyms

A430072O03Rik, CE, C920004C08Rik, CatE

MMRRC Submission

067669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131566052-131603245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131590467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 63 (V63E)

Ref Sequence

ENSEMBL: ENSMUSP00000073072 (fasta)

Gene Model

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

AlphaFold

P70269

Predicted Effect

probably benign
Transcript: ENSMUST00000073350
AA Change: V63E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: V63E

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
AA Change: V63E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552
AA Change: V63E

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.2%

Validation Efficiency

100% (57/57)

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
2810021J22Rik	T	C	11: 58,771,373 (GRCm39)	L285P	probably damaging	Het
Abca4	T	C	3: 121,955,952 (GRCm39)	I1905T	probably benign	Het
Abca5	A	T	11: 110,200,981 (GRCm39)	I473K	probably benign	Het
Adgrl3	CAA	CA	5: 81,935,408 (GRCm39)		probably null	Het
Ap2a1	C	A	7: 44,550,220 (GRCm39)	R959L	probably damaging	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Cbs	T	C	17: 31,834,454 (GRCm39)	I512V	probably benign	Het
Ccn4	C	A	15: 66,791,083 (GRCm39)	T295N	probably benign	Het
Ceacam3	T	C	7: 16,897,082 (GRCm39)	Y683H		Het
Chd8	C	T	14: 52,450,809 (GRCm39)	S1426N	probably damaging	Het
Cog8	T	C	8: 107,782,923 (GRCm39)	D122G	probably benign	Het
Crybg1	G	A	10: 43,842,376 (GRCm39)	Q1772*	probably null	Het
Cspg4	T	C	9: 56,799,964 (GRCm39)	F1576S	probably damaging	Het
Dnah3	G	T	7: 119,525,636 (GRCm39)	T3917N	probably benign	Het
Dst	C	T	1: 34,208,874 (GRCm39)	T1124M	possibly damaging	Het
Fkbp10	A	G	11: 100,306,785 (GRCm39)	Q59R	probably damaging	Het
Fsip1	A	G	2: 118,063,483 (GRCm39)	S329P	probably damaging	Het
Ginm1	G	T	10: 7,668,419 (GRCm39)	S56R	unknown	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm6401	T	A	14: 41,787,452 (GRCm39)	I125F	probably damaging	Het
Helz2	T	C	2: 180,871,124 (GRCm39)	D2815G	possibly damaging	Het
Hes1	T	C	16: 29,886,047 (GRCm39)	V217A	probably damaging	Het
Hsd3b1	C	T	3: 98,760,426 (GRCm39)	M188I	possibly damaging	Het
Ighv1-75	T	C	12: 115,797,876 (GRCm39)		probably benign	Het
Itprid2	T	C	2: 79,487,614 (GRCm39)	S566P	probably benign	Het
Kif1b	T	A	4: 149,275,642 (GRCm39)	N1423I	probably benign	Het
Lmntd1	G	A	6: 145,373,146 (GRCm39)	T129M	probably damaging	Het
Lonrf2	T	A	1: 38,839,854 (GRCm39)	T414S	probably benign	Het
Lrp1b	T	C	2: 40,741,786 (GRCm39)	D3161G		Het
Lyst	T	C	13: 13,826,317 (GRCm39)	I1608T	probably benign	Het
Map9	C	T	3: 82,284,467 (GRCm39)	P347L	probably damaging	Het
Mixl1	G	A	1: 180,524,322 (GRCm39)	Q86*	probably null	Het
Muc5b	T	C	7: 141,411,697 (GRCm39)	S1548P	unknown	Het
Myo15b	A	G	11: 115,767,827 (GRCm39)	K1376E		Het
Nlrc5	A	G	8: 95,252,753 (GRCm39)	T105A	unknown	Het
Npepps	A	G	11: 97,139,026 (GRCm39)		probably null	Het
Nup205	T	A	6: 35,204,438 (GRCm39)	F1441L	possibly damaging	Het
Or5p69	A	C	7: 107,967,234 (GRCm39)	H179P	probably damaging	Het
Pbx4	A	G	8: 70,317,093 (GRCm39)	T117A	probably benign	Het
Phf2	T	A	13: 48,976,514 (GRCm39)	T234S	unknown	Het
Pik3r2	G	A	8: 71,224,794 (GRCm39)	A194V	probably benign	Het
Plaat1	C	A	16: 29,039,106 (GRCm39)	T62K	probably benign	Het
Plbd2	T	C	5: 120,637,114 (GRCm39)	D116G	probably damaging	Het
Plpp2	G	A	10: 79,363,294 (GRCm39)	A235V	possibly damaging	Het
Prkce	G	T	17: 86,866,646 (GRCm39)	R502L	probably damaging	Het
Psrc1	C	T	3: 108,293,930 (GRCm39)	A249V	probably damaging	Het
Ptdss1	T	C	13: 67,124,841 (GRCm39)	C347R	probably damaging	Het
Serpina1b	C	A	12: 103,785,063 (GRCm39)		probably null	Het
Spcs1	C	G	14: 30,722,658 (GRCm39)	A113P	noncoding transcript	Het
Stxbp2	C	T	8: 3,685,695 (GRCm39)	T247M		Het
Tex15	A	G	8: 34,067,427 (GRCm39)	T2286A	possibly damaging	Het
Usp45	T	G	4: 21,834,274 (GRCm39)	V736G	probably damaging	Het
Vmn2r69	A	G	7: 85,060,340 (GRCm39)	S415P	probably benign	Het
Zfp407	T	C	18: 84,578,269 (GRCm39)	E948G	possibly damaging	Het
Zfp942	A	T	17: 22,147,226 (GRCm39)	C468S	possibly damaging	Het
Zmym6	A	G	4: 127,016,544 (GRCm39)	E775G	probably damaging	Het
Zranb2	A	G	3: 157,250,677 (GRCm39)	R283G	probably null	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
R2198:Ctse	UTSW	1	131,600,185 (GRCm39)	nonsense	probably null
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
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'- TGGTCTTGAAGGTTCCCTCCTG -3'
(R):5'- GACTGTCTGAATCCTCCAAGC -3'

Sequencing Primer
(F):5'- CTGTAGTCAGGCTCTGAACAG -3'
(R):5'- GCAAACAAATCCATGCCTGATC -3'

Posted On

2020-07-13