Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Ctsa'

601914

Institutional Source

Beutler Lab

Gene Symbol

Ctsa

Ensembl Gene

ENSMUSG00000017760

Gene Name

cathepsin A

Synonyms

PPCA, Ppgb

MMRRC Submission

045876-MU

Accession Numbers

Essential gene?

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

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164674793-164682952 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 164681152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 475 (*475R)

Ref Sequence

ENSEMBL: ENSMUSP00000099382 (fasta)

Gene Model

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

AlphaFold

P16675

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 null
Transcript: ENSMUST00000103092
AA Change: *493R

SMART Domains

Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760
AA Change: *493R

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 null
Transcript: ENSMUST00000103093
AA Change: *475R

SMART Domains

Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760
AA Change: *475R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,885,524 (GRCm39)	S551L	possibly damaging	Het
Ash1l	T	C	3: 88,914,571 (GRCm39)	S1734P	probably benign	Het
Btnl2	T	A	17: 34,582,288 (GRCm39)	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,202,970 (GRCm39)	D364G	possibly damaging	Het
Card6	T	A	15: 5,128,347 (GRCm39)	K1016N	possibly damaging	Het
Cdh2	G	T	18: 16,757,341 (GRCm39)	N692K	probably benign	Het
Cep76	G	T	18: 67,774,219 (GRCm39)	S9*	probably null	Het
Cklf	T	C	8: 104,977,729 (GRCm39)		probably null	Het
Dapk1	A	C	13: 60,873,715 (GRCm39)	D406A	probably benign	Het
Ddx4	A	T	13: 112,748,647 (GRCm39)	V443D	probably damaging	Het
Dph5	C	T	3: 115,693,399 (GRCm39)	Q106*	probably null	Het
Drg2	C	T	11: 60,353,026 (GRCm39)	R220*	probably null	Het
Efcab8	A	T	2: 153,652,832 (GRCm39)	Q509L	unknown	Het
Efs	C	T	14: 55,154,907 (GRCm39)	S444N	probably benign	Het
Evl	T	C	12: 108,614,723 (GRCm39)	V58A	probably damaging	Het
Garin3	A	G	11: 46,295,730 (GRCm39)	N34S		Het
Gbe1	G	A	16: 70,230,500 (GRCm39)	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,785 (GRCm39)	E516G	probably damaging	Het
Ghr	T	C	15: 3,487,439 (GRCm39)	T15A	probably benign	Het
Gnb4	G	A	3: 32,650,480 (GRCm39)	T50M	probably damaging	Het
Grik3	T	C	4: 125,550,190 (GRCm39)		probably null	Het
Gstk1	T	C	6: 42,224,686 (GRCm39)	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,685,404 (GRCm39)	I846F	probably damaging	Het
Itga7	A	G	10: 128,778,835 (GRCm39)	T321A	probably benign	Het
Jakmip1	A	T	5: 37,332,524 (GRCm39)	N1068I	probably damaging	Het
Krt36	A	G	11: 99,994,966 (GRCm39)	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,170,070 (GRCm39)	L741P	probably damaging	Het
Mctp2	T	C	7: 71,776,935 (GRCm39)	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,790,956 (GRCm39)	K115*	probably null	Het
Mtf2	C	T	5: 108,228,743 (GRCm39)	R20*	probably null	Het
Mycbp2	T	G	14: 103,376,851 (GRCm39)	Q3810P	probably benign	Het
Myom2	A	T	8: 15,158,454 (GRCm39)	H802L	probably benign	Het
Naa25	A	G	5: 121,545,276 (GRCm39)	N27D	probably damaging	Het
Necab2	T	C	8: 120,181,103 (GRCm39)	F126L	probably damaging	Het
Nisch	C	G	14: 30,896,608 (GRCm39)		probably benign	Het
Nsd2	T	A	5: 34,000,938 (GRCm39)	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,180,483 (GRCm39)	L263P	probably damaging	Het
Nup210	A	G	6: 90,995,759 (GRCm39)	V922A	possibly damaging	Het
Or12d17	T	A	17: 37,777,994 (GRCm39)	M299K	probably benign	Het
Or5b105	T	A	19: 13,080,417 (GRCm39)	I84F	probably benign	Het
Or5d45	A	C	2: 88,153,425 (GRCm39)	I208S	probably benign	Het
Pccb	C	A	9: 100,909,137 (GRCm39)	C144F	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,334,478 (GRCm39)	V16A	probably benign	Het
Prr5	A	C	15: 84,649,933 (GRCm39)	Y219S	probably damaging	Het
Psme4	A	G	11: 30,824,245 (GRCm39)	D1743G	probably benign	Het
Rad21l	G	T	2: 151,497,045 (GRCm39)	D356E	probably benign	Het
Rars1	A	G	11: 35,710,793 (GRCm39)	I322T	probably damaging	Het
Retreg2	C	A	1: 75,123,185 (GRCm39)	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,770,059 (GRCm39)	Y559C	probably damaging	Het
Ror1	T	C	4: 100,298,564 (GRCm39)	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,481,373 (GRCm39)	S45P	probably benign	Het
Sacs	G	C	14: 61,429,652 (GRCm39)	K570N	probably benign	Het
Serpinb8	C	T	1: 107,534,723 (GRCm39)	Q265*	probably null	Het
Sgo2b	T	C	8: 64,380,318 (GRCm39)	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,540,568 (GRCm39)	R141K	probably damaging	Het
Strc	G	T	2: 121,208,219 (GRCm39)	T384N	probably benign	Het
Tcaf2	T	C	6: 42,606,033 (GRCm39)	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,200,792 (GRCm39)	N243S	possibly damaging	Het
Tgm3	A	G	2: 129,883,819 (GRCm39)	I492M	probably benign	Het
Tgm7	G	A	2: 120,934,421 (GRCm39)	T157I	probably benign	Het
Trnp1	C	A	4: 133,225,350 (GRCm39)	R140L	possibly damaging	Het
Ttn	A	G	2: 76,609,777 (GRCm39)	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,283,762 (GRCm39)	S102T	probably benign	Het
Vav2	A	T	2: 27,172,299 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,686,241 (GRCm39)	I59F	probably damaging	Het
Yju2b	T	C	8: 84,988,411 (GRCm39)	E72G	probably damaging	Het
Zfp109	T	C	7: 23,928,570 (GRCm39)	T288A	probably benign	Het
Zscan12	T	A	13: 21,553,374 (GRCm39)	H399Q	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
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
R9410:Ctsa	UTSW	2	164,677,101 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGATTCTGGGTCACCCTTGATG -3'
(R):5'- TCACTTGGTCCTAGGCTGTCTG -3'

Sequencing Primer
(F):5'- ACCCTTGATGCATTGGGC -3'
(R):5'- TCCTAGGCTGTCTGTGACGC -3'

Posted On

2019-12-03