Incidental Mutation 'R4190:Ctse'
| ID |
319900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctse
|
| Ensembl Gene |
ENSMUSG00000004552 |
| Gene Name |
cathepsin E |
| Synonyms |
A430072O03Rik, CE, C920004C08Rik, CatE |
| MMRRC Submission |
041021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4190 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131566052-131603245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131590479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 67
(V67D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073350]
[ENSMUST00000112411]
|
| AlphaFold |
P70269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073350
AA Change: V67D
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: V67D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:A1_Propeptide
|
22 |
50 |
7e-14 |
PFAM |
|
Pfam:Asp
|
78 |
395 |
2.1e-129 |
PFAM |
|
Pfam:TAXi_N
|
79 |
236 |
1.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112411
AA Change: V67D
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552
AA Change: V67D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:A1_Propeptide
|
22 |
50 |
2.7e-12 |
PFAM |
|
Pfam:Asp
|
78 |
315 |
2e-99 |
PFAM |
|
Pfam:TAXi_N
|
79 |
236 |
6.1e-14 |
PFAM |
|
Pfam:Asp
|
310 |
362 |
6.8e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141061
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase A1 family of aspartate proteases and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. Homozygous knockout mice for this gene exhibit lysosomal storage disorder, impaired autophagy, mitochondrial abnormalities, dermatitis, and reduced weight gain in an obesity model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile, but develop skin lesions on the face, ears, neck and dorsal skin which are similar to those seen in human atopic dermatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
| Ankrd13b |
G |
A |
11: 77,367,201 (GRCm39) |
A21V |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
| Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,864,888 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
| Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
| Telo2 |
T |
C |
17: 25,320,987 (GRCm39) |
T743A |
probably benign |
Het |
| Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,732,314 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
| Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
probably benign |
Het |
|
| Other mutations in Ctse |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02151:Ctse
|
APN |
1 |
131,600,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02492:Ctse
|
APN |
1 |
131,595,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Ctse
|
UTSW |
1 |
131,591,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Ctse
|
UTSW |
1 |
131,591,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Ctse
|
UTSW |
1 |
131,602,516 (GRCm39) |
splice site |
probably benign |
|
|
R2198:Ctse
|
UTSW |
1 |
131,600,185 (GRCm39) |
nonsense |
probably null |
|
|
R4668:Ctse
|
UTSW |
1 |
131,590,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Ctse
|
UTSW |
1 |
131,592,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Ctse
|
UTSW |
1 |
131,595,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Ctse
|
UTSW |
1 |
131,600,251 (GRCm39) |
nonsense |
probably null |
|
|
R5705:Ctse
|
UTSW |
1 |
131,592,112 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7207:Ctse
|
UTSW |
1 |
131,592,112 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7828:Ctse
|
UTSW |
1 |
131,590,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Ctse
|
UTSW |
1 |
131,600,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Ctse
|
UTSW |
1 |
131,590,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8270:Ctse
|
UTSW |
1 |
131,595,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:Ctse
|
UTSW |
1 |
131,592,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Ctse
|
UTSW |
1 |
131,595,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Ctse
|
UTSW |
1 |
131,592,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Ctse
|
UTSW |
1 |
131,598,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ctse
|
UTSW |
1 |
131,600,182 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGGCTCTGAACAGGTATAG -3'
(R):5'- CTGGGTCATTTAGAAGCCTGC -3'
Sequencing Primer
(F):5'- CTCTGAACAGGTATAGAGGCAATG -3'
(R):5'- GGTCATTTAGAAGCCTGCTTTACAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation