Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Ctse'

633048

Institutional Source

Beutler Lab

Gene Symbol

Ctse

Ensembl Gene

ENSMUSG00000004552

Gene Name

cathepsin E

Synonyms

A430072O03Rik, CE, C920004C08Rik, CatE

MMRRC Submission

067583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131566052-131603245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131600249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 333 (Y333H)

Ref Sequence

ENSEMBL: ENSMUSP00000073072 (fasta)

Gene Model

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

AlphaFold

P70269

Predicted Effect

probably damaging
Transcript: ENSMUST00000073350
AA Change: Y333H

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

SMART Domains

Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: Y333H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,155,361 (GRCm39)	R51W	probably damaging	Het
Adam3	A	G	8: 25,197,453 (GRCm39)	I326T	probably benign	Het
Alpk3	A	G	7: 80,743,470 (GRCm39)	K1096E	probably benign	Het
Aph1a	T	C	3: 95,802,150 (GRCm39)	V44A	possibly damaging	Het
Ash1l	T	A	3: 88,971,014 (GRCm39)		probably null	Het
Atg2b	A	G	12: 105,629,199 (GRCm39)	M410T	probably damaging	Het
Castor2	T	C	5: 134,165,936 (GRCm39)	F228S	possibly damaging	Het
Ccdc15	C	T	9: 37,226,753 (GRCm39)	G407D	probably benign	Het
Cd200r4	T	A	16: 44,653,504 (GRCm39)	N137K	probably damaging	Het
Clec18a	A	G	8: 111,798,683 (GRCm39)	L438P	probably damaging	Het
Clip1	A	G	5: 123,768,782 (GRCm39)	S606P	probably benign	Het
Col11a2	G	A	17: 34,280,230 (GRCm39)	G1193E	unknown	Het
Col6a4	A	G	9: 105,945,097 (GRCm39)	S1006P	possibly damaging	Het
Ctsc	A	T	7: 87,951,416 (GRCm39)	D221V	probably benign	Het
Cyp2c23	T	C	19: 44,010,066 (GRCm39)	N93S	probably benign	Het
Daam1	A	T	12: 71,999,263 (GRCm39)	D633V	probably damaging	Het
Dlg2	G	A	7: 92,036,140 (GRCm39)	R607H	probably damaging	Het
Dsg2	T	A	18: 20,713,606 (GRCm39)	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473 (GRCm39)	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,345,506 (GRCm39)	S153A	probably damaging	Het
Eprs1	C	A	1: 185,130,591 (GRCm39)	H651N	probably benign	Het
Fat2	T	C	11: 55,142,910 (GRCm39)	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,702,714 (GRCm39)	K252R	probably benign	Het
Galt	A	T	4: 41,757,226 (GRCm39)	Q193L	probably benign	Het
Gm7356	T	C	17: 14,221,583 (GRCm39)	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd1	T	A	12: 51,838,073 (GRCm39)	R696S	possibly damaging	Het
Hydin	A	G	8: 111,178,668 (GRCm39)	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,282,306 (GRCm39)	S14R	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lrit3	T	C	3: 129,594,284 (GRCm39)	T98A	probably benign	Het
Macc1	A	G	12: 119,409,728 (GRCm39)	I165M	probably benign	Het
Mapre2	T	A	18: 23,991,218 (GRCm39)	M162K	probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Naa30	T	A	14: 49,410,865 (GRCm39)	N264K	probably benign	Het
Or5ac17	A	G	16: 59,036,352 (GRCm39)	V208A	probably benign	Het
Or8d2	T	A	9: 38,759,762 (GRCm39)	Y117*	probably null	Het
Osr2	T	C	15: 35,302,063 (GRCm39)	I221T	probably benign	Het
Pcdh12	A	T	18: 38,415,850 (GRCm39)	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,436,292 (GRCm39)	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,536,208 (GRCm39)	V734E	probably damaging	Het
Pibf1	T	A	14: 99,433,831 (GRCm39)	L593I	probably benign	Het
Prag1	G	A	8: 36,614,393 (GRCm39)	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,383,330 (GRCm39)	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,539 (GRCm39)	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,879,600 (GRCm39)	N356S	probably benign	Het
Rmc1	T	C	18: 12,321,690 (GRCm39)	V497A	possibly damaging	Het
Saxo4	A	T	19: 10,455,629 (GRCm39)	F207I	probably damaging	Het
Scrib	T	C	15: 75,931,037 (GRCm39)	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,435,448 (GRCm39)	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,951,500 (GRCm39)	L97V	probably benign	Het
Tle7	A	G	8: 110,835,493 (GRCm39)	M24V	probably benign	Het
Trabd	T	A	15: 88,970,024 (GRCm39)	L340H	probably damaging	Het
Trpm1	T	C	7: 63,849,017 (GRCm39)	W88R	probably damaging	Het
Txndc12	G	T	4: 108,710,419 (GRCm39)		probably null	Het
Vmn1r175	T	C	7: 23,508,523 (GRCm39)	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,012,994 (GRCm39)	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,400,441 (GRCm39)	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,270,398 (GRCm39)	E162G	probably benign	Het
Zfp93	T	A	7: 23,975,885 (GRCm39)	C623*	probably null	Het
Zzz3	A	G	3: 152,155,285 (GRCm39)	I645V	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
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'- AGCTTCAAGAGGCCATTGGG -3'
(R):5'- CAGGCAGCTTCATCTCTTTCAG -3'

Sequencing Primer
(F):5'- AGAAGTGAGTGTCTACCG -3'
(R):5'- TCTTTCAGAGAGAATGCCACATAGG -3'

Posted On

2020-06-30