Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03008:Ctsa'

407631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctsa

Ensembl Gene

ENSMUSG00000017760

Gene Name

cathepsin A

Synonyms

PPCA, Ppgb

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

164674793-164682952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 164679368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 359 (R359Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017904] [ENSMUST00000042775] [ENSMUST00000059954] [ENSMUST00000103092] [ENSMUST00000103093] [ENSMUST00000109316] [ENSMUST00000109317] [ENSMUST00000127650] [ENSMUST00000151493] [ENSMUST00000152721] [ENSMUST00000143780]

AlphaFold

P16675

Predicted Effect

probably damaging
Transcript: ENSMUST00000017904
AA Change: R359Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017904
Gene: ENSMUSG00000017760
AA Change: R359Q

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: ENSMUST00000059954

SMART Domains

Protein: ENSMUSP00000061519
Gene: ENSMUSG00000017754

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
BPI1	25	243	5.93e-83	SMART
BPI2	258	460	1.35e-68	SMART
low complexity region	477	493	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103092
AA Change: R359Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760
AA Change: R359Q

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: ENSMUST00000103093
AA Change: R341Q

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760
AA Change: R341Q

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: ENSMUST00000109316

SMART Domains

Protein: ENSMUSP00000104939
Gene: ENSMUSG00000017754

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
BPI1	25	243	5.93e-83	SMART
BPI2	258	460	1.35e-68	SMART
low complexity region	477	493	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109317

SMART Domains

Protein: ENSMUSP00000104940
Gene: ENSMUSG00000017754

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
BPI1	25	191	1.77e-40	SMART
BPI2	206	408	1.35e-68	SMART
low complexity region	425	441	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133502

Predicted Effect

probably benign
Transcript: ENSMUST00000127650

SMART Domains

Protein: ENSMUSP00000115514
Gene: ENSMUSG00000017760

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151493

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: ENSMUST00000143780

SMART Domains

Protein: ENSMUSP00000123413
Gene: ENSMUSG00000017760

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

Coding Region Coverage

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,612,337 (GRCm39)	M1I	probably null	Het
Ankrd44	T	C	1: 54,805,968 (GRCm39)	H146R	probably damaging	Het
Bst1	A	G	5: 43,983,604 (GRCm39)		probably null	Het
Btbd8	T	G	5: 107,639,464 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,480,416 (GRCm39)	I211F	probably damaging	Het
Cenpj	G	T	14: 56,764,406 (GRCm39)	D1335E	probably benign	Het
Clpx	G	A	9: 65,230,057 (GRCm39)	V502I	possibly damaging	Het
Cntnap4	T	C	8: 113,500,222 (GRCm39)	S505P	probably benign	Het
Cog2	T	C	8: 125,262,131 (GRCm39)		probably benign	Het
Cped1	A	G	6: 22,233,601 (GRCm39)	Q819R	probably benign	Het
Cspg4	A	G	9: 56,805,759 (GRCm39)	E2190G	possibly damaging	Het
Cul9	A	G	17: 46,813,623 (GRCm39)		probably benign	Het
Dab1	G	T	4: 104,584,777 (GRCm39)	V306F	probably damaging	Het
Dysf	A	G	6: 84,050,876 (GRCm39)	I438V	probably benign	Het
Eif4g3	G	T	4: 137,847,699 (GRCm39)	G380W	probably damaging	Het
Exd1	T	A	2: 119,350,862 (GRCm39)	K466N	probably benign	Het
Eya3	A	C	4: 132,434,294 (GRCm39)	D325A	probably damaging	Het
Fmn1	A	G	2: 113,195,445 (GRCm39)	T382A	unknown	Het
Fry	T	A	5: 150,269,021 (GRCm39)	D106E	possibly damaging	Het
Gm21957	T	A	7: 124,818,733 (GRCm39)		noncoding transcript	Het
Gm44511	A	G	6: 128,761,059 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,155,982 (GRCm39)	I983V	probably benign	Het
Lrpprc	A	T	17: 85,058,675 (GRCm39)	D5E	probably benign	Het
Lrrc37	T	C	11: 103,511,293 (GRCm39)	E225G	unknown	Het
Ltbp4	G	T	7: 27,023,789 (GRCm39)	N747K	probably damaging	Het
Minar1	A	G	9: 89,478,731 (GRCm39)	Y772H	probably damaging	Het
Mlh3	T	C	12: 85,287,625 (GRCm39)	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,229,185 (GRCm39)	C63S	possibly damaging	Het
Myh11	T	A	16: 14,022,617 (GRCm39)	M1661L	probably benign	Het
Myo1c	T	C	11: 75,549,240 (GRCm39)	M137T	probably benign	Het
Myocd	A	C	11: 65,078,392 (GRCm39)	L340V	probably damaging	Het
Napsa	A	T	7: 44,235,220 (GRCm39)	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,448,516 (GRCm39)	Q240K	probably benign	Het
Npepps	A	C	11: 97,128,984 (GRCm39)	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,304,738 (GRCm39)	E275V	probably benign	Het
Ofd1	T	C	X: 165,192,530 (GRCm39)	D501G	probably benign	Het
Or13a19	T	C	7: 139,903,445 (GRCm39)	Y278H	probably damaging	Het
Or4f6	A	G	2: 111,838,868 (GRCm39)	I221T	possibly damaging	Het
Or5p79	T	G	7: 108,221,490 (GRCm39)	L157R	probably damaging	Het
Or8k41	A	T	2: 86,313,678 (GRCm39)	M136K	probably damaging	Het
P2ry1	A	T	3: 60,910,947 (GRCm39)	T29S	probably benign	Het
Papss1	T	C	3: 131,290,860 (GRCm39)	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,957,764 (GRCm39)	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,887 (GRCm39)	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,694,023 (GRCm39)	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,544,690 (GRCm39)	I27T	probably damaging	Het
Rnf10	G	T	5: 115,389,355 (GRCm39)	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,392,855 (GRCm39)	S246P	probably damaging	Het
Sertad2	G	T	11: 20,597,798 (GRCm39)		probably benign	Het
Slc22a27	A	G	19: 7,887,067 (GRCm39)	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,782,058 (GRCm39)	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,748,138 (GRCm39)	F225I	probably benign	Het
Slc6a3	G	A	13: 73,706,404 (GRCm39)		probably null	Het
Smcr8	A	G	11: 60,669,287 (GRCm39)	E145G	probably damaging	Het
Spen	A	T	4: 141,203,448 (GRCm39)	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stag1	A	T	9: 100,658,844 (GRCm39)	N144Y	probably damaging	Het
Strada	T	C	11: 106,061,783 (GRCm39)	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r138	A	C	6: 40,590,116 (GRCm39)	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,733,642 (GRCm39)	K106*	probably null	Het
Trbv13-1	A	G	6: 41,093,229 (GRCm39)	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,165,932 (GRCm39)	V218A	probably benign	Het
Ttn	G	A	2: 76,611,203 (GRCm39)	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,560,282 (GRCm39)	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,477,908 (GRCm39)	M168V	probably benign	Het
Wdr11	T	C	7: 129,208,715 (GRCm39)		probably benign	Het
Wipf2	T	C	11: 98,783,554 (GRCm39)		probably benign	Het
Zranb2	T	A	3: 157,252,302 (GRCm39)		probably null	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
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
R4588:Ctsa	UTSW	2	164,676,070 (GRCm39)	missense	possibly damaging	0.62
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

Posted On

2016-08-02