Incidental Mutation 'R5236:Ctsa'
| ID |
398351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsa
|
| Ensembl Gene |
ENSMUSG00000017760 |
| Gene Name |
cathepsin A |
| Synonyms |
PPCA, Ppgb |
| MMRRC Submission |
044393-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R5236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164674793-164682952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 164680831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 453
(V453M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017904]
[ENSMUST00000059954]
[ENSMUST00000103092]
[ENSMUST00000103093]
[ENSMUST00000109316]
[ENSMUST00000109317]
[ENSMUST00000127650]
[ENSMUST00000152721]
[ENSMUST00000143780]
[ENSMUST00000151493]
|
| AlphaFold |
P16675 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017904
AA Change: V453M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017904
Gene: ENSMUSG00000017760
AA Change: V453M
| 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: 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: V453M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760
AA Change: V453M
| 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 damaging
Transcript: ENSMUST00000103093
AA Change: V435M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760
AA Change: V435M
| 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 |
noncoding transcript
Transcript: ENSMUST00000146525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133077
|
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151493
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,820,120 (GRCm39) |
I180N |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,263,315 (GRCm39) |
C263S |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Arid4b |
A |
G |
13: 14,301,034 (GRCm39) |
|
probably null |
Het |
| Bin2 |
T |
C |
15: 100,560,415 (GRCm39) |
N49D |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,884,251 (GRCm39) |
T364A |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,014,258 (GRCm39) |
V172D |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,148,351 (GRCm39) |
L2670P |
probably damaging |
Het |
| Cmtm4 |
G |
C |
8: 105,084,378 (GRCm39) |
F105L |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,502,754 (GRCm39) |
Y153C |
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,635 (GRCm39) |
I303V |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,739,606 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,203,498 (GRCm39) |
R447C |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,603,070 (GRCm39) |
P362S |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,792,974 (GRCm39) |
T407A |
probably damaging |
Het |
| Fyb2 |
T |
C |
4: 104,805,957 (GRCm39) |
S346P |
probably benign |
Het |
| Git2 |
T |
A |
5: 114,905,233 (GRCm39) |
I75L |
probably damaging |
Het |
| H2-DMa |
T |
A |
17: 34,356,913 (GRCm39) |
L137Q |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hrg |
T |
C |
16: 22,780,263 (GRCm39) |
|
probably benign |
Het |
| Htr7 |
A |
T |
19: 36,034,169 (GRCm39) |
I162N |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,983,770 (GRCm39) |
F117L |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,187,237 (GRCm39) |
Y392C |
probably damaging |
Het |
| Krt27 |
A |
C |
11: 99,241,641 (GRCm39) |
S87A |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,111,487 (GRCm39) |
V2246A |
probably benign |
Het |
| Lcn2 |
A |
T |
2: 32,275,973 (GRCm39) |
M119K |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,287,163 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
T |
C |
6: 134,488,227 (GRCm39) |
N290D |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,291,614 (GRCm39) |
E2517G |
probably damaging |
Het |
| Melk |
G |
A |
4: 44,344,959 (GRCm39) |
C363Y |
probably benign |
Het |
| Mettl22 |
T |
A |
16: 8,306,597 (GRCm39) |
L351* |
probably null |
Het |
| Mms22l |
A |
G |
4: 24,588,347 (GRCm39) |
Q953R |
probably benign |
Het |
| Ndufaf7 |
T |
C |
17: 79,247,060 (GRCm39) |
S107P |
probably benign |
Het |
| Opa3 |
A |
G |
7: 18,978,682 (GRCm39) |
Y49C |
probably damaging |
Het |
| Or2a12 |
A |
C |
6: 42,904,715 (GRCm39) |
R183S |
probably benign |
Het |
| Or9a2 |
C |
A |
6: 41,749,045 (GRCm39) |
G63C |
probably benign |
Het |
| Pabpn1 |
T |
A |
14: 55,132,399 (GRCm39) |
M145K |
possibly damaging |
Het |
| Plce1 |
A |
C |
19: 38,758,791 (GRCm39) |
M1982L |
probably benign |
Het |
| Ppcdc |
A |
C |
9: 57,321,937 (GRCm39) |
I201S |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,005 (GRCm39) |
D105V |
probably damaging |
Het |
| Rnf130 |
C |
T |
11: 49,986,805 (GRCm39) |
T383I |
probably damaging |
Het |
| Sgip1 |
T |
G |
4: 102,784,784 (GRCm39) |
|
probably null |
Het |
| Slc23a2 |
T |
A |
2: 131,917,504 (GRCm39) |
I245F |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,663,900 (GRCm39) |
Y308C |
probably benign |
Het |
| Slc7a15 |
C |
T |
12: 8,589,005 (GRCm39) |
V181M |
probably benign |
Het |
| Sprr2b |
G |
A |
3: 92,224,943 (GRCm39) |
C63Y |
unknown |
Het |
| Stpg2 |
A |
T |
3: 138,937,984 (GRCm39) |
Y181F |
probably damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,974 (GRCm39) |
T194S |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,362 (GRCm39) |
Q411L |
possibly damaging |
Het |
| Tln2 |
T |
A |
9: 67,273,205 (GRCm39) |
E427V |
probably damaging |
Het |
| Trpv4 |
A |
C |
5: 114,760,856 (GRCm39) |
V825G |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,754,596 (GRCm39) |
I1968V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,619,146 (GRCm39) |
L16078F |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,805,888 (GRCm39) |
F132I |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,060,654 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
T |
7: 85,272,877 (GRCm39) |
N564Y |
probably damaging |
Het |
| Zfp638 |
G |
T |
6: 83,953,557 (GRCm39) |
E1221* |
probably null |
Het |
| Zfp934 |
A |
T |
13: 62,665,527 (GRCm39) |
H371Q |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,968,726 (GRCm39) |
L63P |
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 |
|
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'- TAAAGTTGCCAGGGAGCTGG -3'
(R):5'- GAGAGATCTGGATCCCCAACATG -3'
Sequencing Primer
(F):5'- AGCTGGGCTGGCTAGGG -3'
(R):5'- TCTGGATCCCCAACATGCATCAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation