Mutagenetix > Incidental Mutation

Incidental Mutation 'R8322:Ctsd'

642015

Institutional Source

Beutler Lab

Gene Symbol

Ctsd

Ensembl Gene

ENSMUSG00000007891

Gene Name

cathepsin D

Synonyms

CatD, CD

MMRRC Submission

067798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8322 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141929647-141941564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141939197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 76 (D76V)

Ref Sequence

ENSEMBL: ENSMUSP00000121203 (fasta)

Gene Model

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

AlphaFold

P18242

Predicted Effect

SMART Domains

Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891
AA Change: D76V

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 damaging
Transcript: ENSMUST00000151120
AA Change: D76V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891
AA Change: D76V

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,219 (GRCm39)	S209G	probably benign	Het
Aars1	T	C	8: 111,772,160 (GRCm39)	L450P	possibly damaging	Het
Acsbg1	G	A	9: 54,523,268 (GRCm39)	T453M	probably benign	Het
Aff3	A	G	1: 38,220,742 (GRCm39)	S1100P	possibly damaging	Het
B4galt5	G	A	2: 167,190,849 (GRCm39)	A35V	probably benign	Het
C1qtnf1	T	C	11: 118,338,683 (GRCm39)	S118P	probably benign	Het
Ceacam20	A	T	7: 19,705,628 (GRCm39)	E206D	probably damaging	Het
Celsr3	T	C	9: 108,725,993 (GRCm39)	L3066P	probably damaging	Het
Cers3	T	G	7: 66,439,386 (GRCm39)	L299R	probably damaging	Het
Cfhr2	G	T	1: 139,738,696 (GRCm39)	H288Q	probably benign	Het
Cnot1	A	T	8: 96,496,472 (GRCm39)	M278K	probably benign	Het
Cnot10	T	C	9: 114,456,537 (GRCm39)	E166G	probably damaging	Het
Cyp1a1	T	A	9: 57,610,003 (GRCm39)	F472L	probably damaging	Het
Dusp19	T	A	2: 80,454,635 (GRCm39)	D118E	probably damaging	Het
Dusp29	A	T	14: 21,752,950 (GRCm39)	D65E	probably damaging	Het
Eif2ak3	C	A	6: 70,855,903 (GRCm39)	R236S	probably damaging	Het
Fam169a	A	G	13: 97,259,260 (GRCm39)	T439A	probably benign	Het
Flg	T	C	3: 93,191,639 (GRCm39)	Y11H	unknown	Het
Fn1	T	A	1: 71,667,618 (GRCm39)	I792L	probably benign	Het
Fzd7	T	C	1: 59,522,242 (GRCm39)	S42P	probably benign	Het
Gimap3	A	G	6: 48,742,370 (GRCm39)	S187P	possibly damaging	Het
Gli1	C	A	10: 127,167,477 (GRCm39)	R592L	probably damaging	Het
Glt8d2	A	T	10: 82,498,037 (GRCm39)	I124N	probably damaging	Het
Hbp1	C	T	12: 31,983,387 (GRCm39)	D356N	probably damaging	Het
Hif1a	T	C	12: 73,986,373 (GRCm39)	S367P	probably benign	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Itpr1	C	A	6: 108,365,190 (GRCm39)	N880K	probably benign	Het
Kank1	T	C	19: 25,355,842 (GRCm39)		probably benign	Het
Kat2a	T	C	11: 100,603,116 (GRCm39)	T39A	unknown	Het
Kcnk2	T	A	1: 189,072,046 (GRCm39)	Q98L	probably benign	Het
Kcnn4	G	A	7: 24,083,545 (GRCm39)	G409S	probably benign	Het
Klrb1	T	A	6: 128,690,576 (GRCm39)	I49F	probably damaging	Het
Larp4	G	A	15: 99,908,237 (GRCm39)	V573I	probably benign	Het
Lrpprc	A	G	17: 85,047,496 (GRCm39)		probably null	Het
Mybl1	A	G	1: 9,746,506 (GRCm39)	S385P	probably damaging	Het
Nup62	T	C	7: 44,478,440 (GRCm39)	S152P	possibly damaging	Het
Obi1	A	T	14: 104,717,091 (GRCm39)	D427E	probably damaging	Het
Or11a4	A	G	17: 37,536,241 (GRCm39)	Y75C	probably damaging	Het
Pcdh12	G	A	18: 38,414,630 (GRCm39)	Q832*	probably null	Het
Pcid2	A	G	8: 13,128,555 (GRCm39)	I368T	probably damaging	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pi4ka	A	G	16: 17,175,437 (GRCm39)	Y464H		Het
Plekhg5	T	G	4: 152,189,201 (GRCm39)	S260R	possibly damaging	Het
Prkdc	T	A	16: 15,532,005 (GRCm39)		probably benign	Het
Prr14	A	T	7: 127,072,999 (GRCm39)	E115D	probably benign	Het
Rab3gap2	A	T	1: 184,978,877 (GRCm39)	N285Y	probably benign	Het
Rhot1	T	A	11: 80,148,386 (GRCm39)	C609S	possibly damaging	Het
Rnf123	T	C	9: 107,945,706 (GRCm39)	Q360R	probably benign	Het
Rrp12	T	C	19: 41,868,658 (GRCm39)	T562A	probably benign	Het
Rundc1	G	A	11: 101,322,992 (GRCm39)	G317D	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Slc14a1	A	T	18: 78,145,656 (GRCm39)	I426N	possibly damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc45a3	A	G	1: 131,905,523 (GRCm39)	D182G	probably damaging	Het
Sos1	A	T	17: 80,715,728 (GRCm39)	F1010I	probably damaging	Het
Tap1	A	G	17: 34,412,163 (GRCm39)	E456G	probably damaging	Het
Tha1	A	T	11: 117,759,493 (GRCm39)	V332E	probably damaging	Het
Tmem18	T	A	12: 30,638,517 (GRCm39)	I93N	probably damaging	Het
Tnrc18	A	G	5: 142,711,767 (GRCm39)	F2664S	probably damaging	Het
Tpm3	T	A	3: 89,981,011 (GRCm39)		probably benign	Het
Ttc3	A	G	16: 94,255,351 (GRCm39)	E1615G	probably damaging	Het
Ube3b	A	G	5: 114,540,747 (GRCm39)	T485A	probably benign	Het
Vmn2r92	A	G	17: 18,386,886 (GRCm39)	Y75C	probably damaging	Het
Zfp169	T	C	13: 48,644,575 (GRCm39)	D184G	unknown	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
R7499:Ctsd	UTSW	7	141,937,149 (GRCm39)	splice site	probably null
R7829:Ctsd	UTSW	7	141,930,879 (GRCm39)	missense	probably damaging	1.00
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'- TTTGCAAATACCAAGCAATGCC -3'
(R):5'- TGGGTGCTAATACCTCTGTCC -3'

Sequencing Primer
(F):5'- AACCCATCCTTTAGTCTGAGC -3'
(R):5'- GTCCCATCTTGACAGAATCCC -3'

Posted On

2020-07-28