Mutagenetix > Incidental Mutation

Incidental Mutation 'R7499:Ctsd'

585903

Institutional Source

Beutler Lab

Gene Symbol

Ctsd

Ensembl Gene

ENSMUSG00000007891

Gene Name

cathepsin D

Synonyms

CatD, CD

MMRRC Submission

045572-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141929647-141941564 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 141937149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066401] [ENSMUST00000151120]

AlphaFold

P18242

Predicted Effect

probably null
Transcript: ENSMUST00000066401

SMART Domains

Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
Pfam:A1_Propeptide	21	49	1.7e-11	PFAM
Pfam:Asp	78	274	1.6e-75	PFAM
Pfam:TAXi_N	79	246	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133843

SMART Domains

Protein: ENSMUSP00000117247
Gene: ENSMUSG00000110040

Domain	Start	End	E-Value	Type
Pfam:Asp	1	249	4.5e-74	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151120

SMART Domains

Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:A1_Propeptide	21	48	6.9e-11	PFAM
Pfam:Asp	78	407	4.7e-123	PFAM
Pfam:TAXi_N	79	247	2.1e-10	PFAM
Pfam:TAXi_C	326	406	6.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209263

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null mutation die in a state of anorexia at ~P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells; near the terminal stage, affected mice have seizures,display retinal atrophy, and become blind. [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
4930563M21Rik	T	A	9: 55,907,186 (GRCm39)	D180V	possibly damaging	Het
Abat	T	C	16: 8,421,618 (GRCm39)		probably null	Het
Ankfn1	G	A	11: 89,282,576 (GRCm39)	T357I	probably benign	Het
Armc3	C	T	2: 19,290,790 (GRCm39)	T423I	probably benign	Het
Asb6	T	C	2: 30,714,472 (GRCm39)	T213A	possibly damaging	Het
Atp11a	T	C	8: 12,882,575 (GRCm39)	C488R	probably benign	Het
Bag6	G	A	17: 35,363,368 (GRCm39)	R736H	probably benign	Het
Bche	G	A	3: 73,609,231 (GRCm39)	P65L	probably damaging	Het
Cela3a	T	A	4: 137,132,950 (GRCm39)	I101F	probably damaging	Het
Cep170	A	T	1: 176,602,028 (GRCm39)	D359E	probably damaging	Het
Chfr	T	C	5: 110,299,549 (GRCm39)	V314A	probably benign	Het
Clpb	T	C	7: 101,371,935 (GRCm39)	F224L	possibly damaging	Het
Coro2a	T	C	4: 46,539,188 (GRCm39)	K527R	probably benign	Het
Cpa5	A	G	6: 30,630,856 (GRCm39)	T373A	possibly damaging	Het
Dlx5	G	A	6: 6,878,340 (GRCm39)	S230F	possibly damaging	Het
Dlx5	A	C	6: 6,878,341 (GRCm39)	S230A	probably benign	Het
Dmc1	G	T	15: 79,486,621 (GRCm39)	S11*	probably null	Het
Dnah1	G	A	14: 31,037,079 (GRCm39)	Q256*	probably null	Het
Dnah3	A	G	7: 119,660,135 (GRCm39)	F846L	probably damaging	Het
Dnah5	A	T	15: 28,302,596 (GRCm39)	I1618F	probably damaging	Het
Emsy	A	G	7: 98,279,538 (GRCm39)	V267A	possibly damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,924,007 (GRCm39)	I317M	probably damaging	Het
G6pc1	C	A	11: 101,267,520 (GRCm39)	Y323*	probably null	Het
Gm5114	A	G	7: 39,058,489 (GRCm39)	C377R	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hmbox1	A	G	14: 65,134,126 (GRCm39)	V158A	possibly damaging	Het
Hmg20a	A	G	9: 56,396,227 (GRCm39)	R340G	unknown	Het
Ifi206	T	A	1: 173,309,607 (GRCm39)	I130F		Het
Ifnb1	T	C	4: 88,440,911 (GRCm39)	N34S	probably benign	Het
Il16	T	C	7: 83,323,702 (GRCm39)	K283E	probably damaging	Het
Maf	T	C	8: 116,419,920 (GRCm39)	D374G	probably benign	Het
Mettl14	A	G	3: 123,168,503 (GRCm39)	I179T	probably benign	Het
Mpped1	G	A	15: 83,684,251 (GRCm39)	R91H	probably damaging	Het
Nop2	C	A	6: 125,121,171 (GRCm39)	P651Q	possibly damaging	Het
Or5p62	A	G	7: 107,771,007 (GRCm39)	*315Q	probably null	Het
Phkg1	G	A	5: 129,902,109 (GRCm39)	Q89*	probably null	Het
Phykpl	T	A	11: 51,482,285 (GRCm39)	V133E	probably damaging	Het
Polr3gl	A	T	3: 96,487,137 (GRCm39)	Y183N	probably benign	Het
Rab13	A	G	3: 90,132,840 (GRCm39)	T187A	probably benign	Het
Ripor2	A	G	13: 24,877,755 (GRCm39)	M252V	probably damaging	Het
Sec61a2	T	C	2: 5,882,725 (GRCm39)	N186S	probably benign	Het
Serpinb5	T	C	1: 106,800,119 (GRCm39)		probably null	Het
Serpine3	G	A	14: 62,902,476 (GRCm39)	W29*	probably null	Het
Sh2b3	T	C	5: 121,956,536 (GRCm39)	R382G	probably damaging	Het
Slc66a1	T	A	4: 139,033,823 (GRCm39)	D32V	probably damaging	Het
Slc7a5	A	G	8: 122,610,461 (GRCm39)	L451P	probably damaging	Het
Slco1a5	T	C	6: 142,208,257 (GRCm39)		probably null	Het
Tep1	G	A	14: 51,091,047 (GRCm39)	A695V	probably damaging	Het
Tnik	T	C	3: 28,684,743 (GRCm39)	V857A	possibly damaging	Het
Trdn	A	T	10: 33,072,097 (GRCm39)	M255L	probably benign	Het
Tsc22d4	G	A	5: 137,745,985 (GRCm39)	S203N	probably benign	Het
Tsfm	T	C	10: 126,858,417 (GRCm39)	E316G	possibly damaging	Het
Tvp23b	T	C	11: 62,770,289 (GRCm39)		probably benign	Het
Vgf	C	A	5: 137,061,099 (GRCm39)	D420E	probably damaging	Het
Zan	G	A	5: 137,462,618 (GRCm39)	P854S	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	possibly damaging	Het

Other mutations in Ctsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ctsd	APN	7	141,936,418 (GRCm39)	missense	probably damaging	1.00
IGL01963:Ctsd	APN	7	141,930,336 (GRCm39)	critical splice donor site	probably null
IGL02021:Ctsd	APN	7	141,939,213 (GRCm39)	missense	probably damaging	0.99
twiggy	UTSW	7	141,930,881 (GRCm39)	missense	probably damaging	1.00
R5161:Ctsd	UTSW	7	141,930,881 (GRCm39)	missense	probably damaging	1.00
R5533:Ctsd	UTSW	7	141,931,070 (GRCm39)	missense	probably benign	0.00
R5762:Ctsd	UTSW	7	141,937,266 (GRCm39)	missense	probably damaging	1.00
R5933:Ctsd	UTSW	7	141,930,316 (GRCm39)	missense	probably benign	0.00
R6031:Ctsd	UTSW	7	141,930,451 (GRCm39)	missense	probably damaging	1.00
R6365:Ctsd	UTSW	7	141,939,314 (GRCm39)	missense	probably benign	0.37
R6721:Ctsd	UTSW	7	141,930,590 (GRCm39)	missense	possibly damaging	0.77
R7426:Ctsd	UTSW	7	141,937,278 (GRCm39)	missense	probably damaging	0.96
R7829:Ctsd	UTSW	7	141,930,879 (GRCm39)	missense	probably damaging	1.00
R8322:Ctsd	UTSW	7	141,939,197 (GRCm39)	missense	probably damaging	0.99
R9242:Ctsd	UTSW	7	141,937,280 (GRCm39)	critical splice acceptor site	probably null
R9423:Ctsd	UTSW	7	141,939,212 (GRCm39)	missense	probably damaging	1.00
R9601:Ctsd	UTSW	7	141,936,373 (GRCm39)	missense	probably damaging	1.00
X0025:Ctsd	UTSW	7	141,930,581 (GRCm39)	missense	probably damaging	1.00
Z1088:Ctsd	UTSW	7	141,930,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGACTGAAGGATGGGACTAG -3'
(R):5'- TGGTGTTCTATATACAGCCAGAGG -3'

Sequencing Primer
(F):5'- GGACTAGAACCCCACTCTCTGG -3'
(R):5'- AGAGGCCTCTCAGGTACCTC -3'

Posted On

2019-10-18