Mutagenetix > Incidental Mutation

Incidental Mutation 'R4588:Ctsa'

342601

Institutional Source

Beutler Lab

Gene Symbol

Ctsa

Ensembl Gene

ENSMUSG00000017760

Gene Name

cathepsin A

Synonyms

PPCA, Ppgb

MMRRC Submission

042007-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R4588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164674793-164682952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164676070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 41 (S41P)

Ref Sequence

ENSEMBL: ENSMUSP00000115514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017904] [ENSMUST00000042775] [ENSMUST00000103092] [ENSMUST00000103093] [ENSMUST00000127650] [ENSMUST00000143780] [ENSMUST00000152721] [ENSMUST00000151493]

AlphaFold

P16675

Predicted Effect

probably benign
Transcript: ENSMUST00000017904
AA Change: S59P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000017904
Gene: ENSMUSG00000017760
AA Change: S59P

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
Pfam:Peptidase_S10	52	489	2.5e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042775

SMART Domains

Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873

Domain	Start	End	E-Value	Type
Pfam:Neuralized	25	90	1.1e-27	PFAM
SOCS_box	248	285	3.77e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103092
AA Change: S59P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760
AA Change: S59P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	471	1.7e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103093
AA Change: S41P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760
AA Change: S41P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	471	1.7e-139	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127650
AA Change: S41P

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115514
Gene: ENSMUSG00000017760
AA Change: S41P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	215	9.4e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155061

Predicted Effect

probably benign
Transcript: ENSMUST00000143780
AA Change: S53P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123413
Gene: ENSMUSG00000017760
AA Change: S53P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	144	2.1e-52	PFAM
Pfam:Peptidase_S10	141	208	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152721

SMART Domains

Protein: ENSMUSP00000119814
Gene: ENSMUSG00000017760

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S10	45	227	1.7e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151493

Meta Mutation Damage Score

0.0652

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: This gene encodes a glycoprotein with deamidase, esterase and carboxypeptidase activities. The encoded protein associates with and provides a protective function to the lysosomal enzymes beta-galactosidase and neuraminidase. Deficiency of the related gene in humans results in galactosialidosis. The proprotein is processed into two shorter chains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,833,701 (GRCm39)		probably null	Het
Abcb4	A	T	5: 8,997,328 (GRCm39)	I936F	probably benign	Het
Adnp2	G	T	18: 80,171,863 (GRCm39)	L849I	probably benign	Het
Atf7ip	T	C	6: 136,576,692 (GRCm39)	S1032P	probably benign	Het
Atr	A	C	9: 95,747,720 (GRCm39)	D334A	probably benign	Het
Atrip	A	T	9: 108,889,347 (GRCm39)	D20E	probably damaging	Het
Atxn7	T	A	14: 14,096,268 (GRCm38)	C43*	probably null	Het
Cfap65	C	A	1: 74,943,215 (GRCm39)	Q1603H	possibly damaging	Het
Cpne5	T	C	17: 29,383,687 (GRCm39)	I327V	probably benign	Het
Cyp4x1	A	T	4: 114,965,994 (GRCm39)	L444Q	probably damaging	Het
Dchs1	C	A	7: 105,405,248 (GRCm39)	M2431I	probably benign	Het
Ddi1	T	A	9: 6,266,003 (GRCm39)	H122L	probably benign	Het
Defa21	C	T	8: 21,515,664 (GRCm39)	P21S	probably damaging	Het
Ect2	A	G	3: 27,201,149 (GRCm39)	V77A	probably damaging	Het
Ermap	C	A	4: 119,045,445 (GRCm39)		probably benign	Het
Fancm	G	A	12: 65,165,215 (GRCm39)		probably null	Het
Gcnt3	T	A	9: 69,941,512 (GRCm39)	D352V	probably damaging	Het
Gys2	A	G	6: 142,395,181 (GRCm39)	M428T	possibly damaging	Het
Igtp	T	A	11: 58,097,508 (GRCm39)	N226K	probably damaging	Het
Itpr2	T	A	6: 146,142,694 (GRCm39)	H1675L	probably benign	Het
Lipo4	G	A	19: 33,476,647 (GRCm39)	P367L	possibly damaging	Het
Lzts3	T	C	2: 130,476,686 (GRCm39)	*587W	probably null	Het
Mast3	T	A	8: 71,233,251 (GRCm39)	K300*	probably null	Het
Mepce	G	A	5: 137,783,534 (GRCm39)	T264I	possibly damaging	Het
Mif4gd	A	T	11: 115,500,372 (GRCm39)	I62N	probably damaging	Het
Or14a260	C	T	7: 85,984,852 (GRCm39)	V251I	probably benign	Het
Or7e175	T	A	9: 20,049,383 (GRCm39)	*324K	probably null	Het
Palm3	A	G	8: 84,756,015 (GRCm39)	K509R	probably benign	Het
Pde11a	T	C	2: 75,859,647 (GRCm39)	T821A	probably damaging	Het
Pik3r5	A	G	11: 68,384,087 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,271,092 (GRCm39)	T3154A	probably benign	Het
Ptprs	A	G	17: 56,732,534 (GRCm39)	Y438H	probably damaging	Het
Rdh8	T	A	9: 20,734,025 (GRCm39)	D70E	probably benign	Het
Scn2a	A	T	2: 65,544,111 (GRCm39)	I831L	possibly damaging	Het
Selenoo	A	G	15: 88,980,921 (GRCm39)	H420R	probably benign	Het
Slc22a16	T	C	10: 40,446,677 (GRCm39)		probably benign	Het
Slc5a1	A	G	5: 33,302,632 (GRCm39)	T208A	probably benign	Het
Sparc	T	C	11: 55,296,062 (GRCm39)	M121V	probably benign	Het
Sstr1	G	T	12: 58,260,417 (GRCm39)	A347S	probably benign	Het
Stab1	C	A	14: 30,879,402 (GRCm39)	V693F	probably benign	Het
Tnn	A	G	1: 159,972,681 (GRCm39)	V307A	probably benign	Het
Trmt1	A	G	8: 85,417,382 (GRCm39)		probably benign	Het
Ttc3	T	C	16: 94,243,760 (GRCm39)	S1255P	probably benign	Het
Ube2ql1	A	C	13: 69,887,276 (GRCm39)	S62A	unknown	Het
Vmn2r84	T	A	10: 130,221,809 (GRCm39)	M804L	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Vps50	A	G	6: 3,562,306 (GRCm39)	E467G	probably damaging	Het

Other mutations in Ctsa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Ctsa	APN	2	164,676,230 (GRCm39)	unclassified	probably benign
IGL02489:Ctsa	APN	2	164,680,565 (GRCm39)	missense	probably damaging	0.96
IGL02522:Ctsa	APN	2	164,681,061 (GRCm39)	unclassified	probably benign
IGL03008:Ctsa	APN	2	164,679,368 (GRCm39)	missense	probably damaging	1.00
R2058:Ctsa	UTSW	2	164,676,822 (GRCm39)	missense	probably null	0.00
R2402:Ctsa	UTSW	2	164,676,813 (GRCm39)	missense	probably benign	0.36
R3123:Ctsa	UTSW	2	164,677,152 (GRCm39)	splice site	probably null
R4270:Ctsa	UTSW	2	164,677,222 (GRCm39)	missense	probably benign	0.00
R5236:Ctsa	UTSW	2	164,680,831 (GRCm39)	missense	probably damaging	1.00
R5331:Ctsa	UTSW	2	164,676,229 (GRCm39)	unclassified	probably benign
R6258:Ctsa	UTSW	2	164,676,281 (GRCm39)	missense	probably damaging	1.00
R6260:Ctsa	UTSW	2	164,676,281 (GRCm39)	missense	probably damaging	1.00
R6853:Ctsa	UTSW	2	164,679,284 (GRCm39)	missense	probably benign	0.00
R7654:Ctsa	UTSW	2	164,680,853 (GRCm39)	missense	probably benign	0.38
R7822:Ctsa	UTSW	2	164,681,152 (GRCm39)	makesense	probably null
R9410:Ctsa	UTSW	2	164,677,101 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACGGAGATGCCCAAACTG -3'
(R):5'- ACTCCACAAACCTGGGAAGG -3'

Sequencing Primer
(F):5'- GAACTGCTGCACCGAAGC -3'
(R):5'- CTCCACAAACCTGGGAAGGATAGG -3'

Posted On

2015-09-24