Mutagenetix > Incidental Mutation

Incidental Mutation 'R6853:Ctsa'

535076

Institutional Source

Beutler Lab

Gene Symbol

Ctsa

Ensembl Gene

ENSMUSG00000017760

Gene Name

cathepsin A

Synonyms

PPCA, Ppgb

MMRRC Submission

044956-MU

Accession Numbers

Essential gene?

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

Stock #

R6853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164674793-164682952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164679284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 331 (M331K)

Ref Sequence

ENSEMBL: ENSMUSP00000099381 (fasta)

Gene Model

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

AlphaFold

P16675

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 benign
Transcript: ENSMUST00000103092
AA Change: M331K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760
AA Change: M331K

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: M313K

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

SMART Domains

Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760
AA Change: M313K

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

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000151493

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	T	15: 12,818,031 (GRCm39)	D138E	probably benign	Het
Atp13a5	A	G	16: 29,140,480 (GRCm39)	S359P	possibly damaging	Het
Bcam	T	C	7: 19,494,331 (GRCm39)	D355G	probably damaging	Het
Bmp8a	C	A	4: 123,236,476 (GRCm39)	W9L	unknown	Het
Cacul1	A	T	19: 60,517,904 (GRCm39)	Y334*	probably null	Het
Ccdc178	A	T	18: 22,242,933 (GRCm39)	N227K	probably benign	Het
Ceacam2	T	C	7: 25,217,561 (GRCm39)	N318S	possibly damaging	Het
Cntrl	T	A	2: 35,019,833 (GRCm39)	S553R	possibly damaging	Het
Cyp2c38	T	A	19: 39,426,748 (GRCm39)	Q184H	probably benign	Het
Cyp2c70	C	T	19: 40,172,364 (GRCm39)	E93K	possibly damaging	Het
D430041D05Rik	C	T	2: 104,071,500 (GRCm39)	V1267M	probably damaging	Het
Ddias	C	T	7: 92,508,773 (GRCm39)	A381T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,935 (GRCm39)	C2696Y	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Farp2	T	C	1: 93,497,738 (GRCm39)	F256S	probably damaging	Het
Fga	A	G	3: 82,938,219 (GRCm39)	Y198C	probably damaging	Het
Gabpa	T	A	16: 84,657,387 (GRCm39)	C421S	probably damaging	Het
Gm21798	A	T	15: 64,689,714 (GRCm39)		probably benign	Het
Gm21798	A	T	15: 64,689,716 (GRCm39)		probably benign	Het
Gm7145	A	C	1: 117,913,874 (GRCm39)	N252T	possibly damaging	Het
H2-Q6	T	C	17: 35,647,335 (GRCm39)	*327R	probably null	Het
H6pd	T	C	4: 150,066,919 (GRCm39)	D489G	probably benign	Het
Htra2	A	G	6: 83,030,812 (GRCm39)		probably benign	Het
Ice1	T	G	13: 70,751,421 (GRCm39)	E1555A	possibly damaging	Het
Inpp5d	T	A	1: 87,609,402 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,120,077 (GRCm39)	D320G	probably damaging	Het
Kif1a	T	G	1: 92,967,524 (GRCm39)	H1129P	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 69,084,915 (GRCm39)	D609N	probably damaging	Het
Lgals9	A	T	11: 78,856,832 (GRCm39)	D248E	probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,449,080 (GRCm39)		probably null	Het
Mtus2	A	G	5: 148,043,821 (GRCm39)	K803R	probably damaging	Het
Oas1a	T	A	5: 121,045,491 (GRCm39)	I17L	possibly damaging	Het
Or2h2c	G	A	17: 37,422,400 (GRCm39)	T158I	probably benign	Het
Or5b121	T	A	19: 13,507,295 (GRCm39)	I130K	possibly damaging	Het
Or5k15	C	T	16: 58,710,121 (GRCm39)	S154N	possibly damaging	Het
Or5k15	T	A	16: 58,710,122 (GRCm39)	S154C	probably damaging	Het
Or7g32	T	G	9: 19,408,102 (GRCm39)	Y19*	probably null	Het
Otof	T	C	5: 30,545,583 (GRCm39)	D539G	probably damaging	Het
Pabpc4	T	C	4: 123,188,536 (GRCm39)	Y382H	possibly damaging	Het
Rag1	T	C	2: 101,472,566 (GRCm39)	T859A	probably damaging	Het
Ralbp1	C	T	17: 66,159,751 (GRCm39)	R504H	possibly damaging	Het
Sdk2	A	G	11: 113,671,755 (GRCm39)	F2131S	probably damaging	Het
Sik1	A	T	17: 32,073,180 (GRCm39)		probably null	Het
Sis	A	G	3: 72,798,759 (GRCm39)	I1763T	possibly damaging	Het
Slc39a6	A	G	18: 24,732,376 (GRCm39)	I304T	possibly damaging	Het
Slc5a12	A	G	2: 110,454,539 (GRCm39)	S367G	probably benign	Het
Smchd1	A	T	17: 71,743,738 (GRCm39)	W476R	probably damaging	Het
Spag17	T	C	3: 99,920,551 (GRCm39)	Y429H	possibly damaging	Het
Stt3a	G	A	9: 36,653,023 (GRCm39)	S553F	possibly damaging	Het
Sult2a1	C	T	7: 13,535,412 (GRCm39)	V214I	possibly damaging	Het
Supt6	T	C	11: 78,123,656 (GRCm39)	E38G	possibly damaging	Het
Tenm4	G	A	7: 96,486,502 (GRCm39)	G990R	possibly damaging	Het
Thop1	T	C	10: 80,911,495 (GRCm39)		probably null	Het
Thumpd2	C	A	17: 81,372,459 (GRCm39)	D11Y	possibly damaging	Het
Tmf1	T	G	6: 97,145,810 (GRCm39)	I574L	probably damaging	Het
Tnfaip3	A	G	10: 18,879,499 (GRCm39)	V623A	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ush2a	T	G	1: 188,643,434 (GRCm39)	Y4265*	probably null	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,240,771 (GRCm39)	L114Q	probably damaging	Het
Vmn2r98	A	T	17: 19,286,063 (GRCm39)	Y187F	probably benign	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
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
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'- GCTAATACCTGCTGCCTCTAGAG -3'
(R):5'- TTACAGAAGCCCAGCTGGTG -3'

Sequencing Primer
(F):5'- CAGATATGAGGACACACTTGTAGTCC -3'
(R):5'- GTGGCCATCACCTGCAC -3'

Posted On

2018-09-12