Incidental Mutation 'R4331:Capn8'
| ID |
323584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn8
|
| Ensembl Gene |
ENSMUSG00000038599 |
| Gene Name |
calpain 8 |
| Synonyms |
nCL-2', nCL-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4331 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
182392572-182459917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 182432019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 330
(D330V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048941]
[ENSMUST00000168514]
[ENSMUST00000192671]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048941
AA Change: D330V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: D330V
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
352 |
5.02e-183 |
SMART |
|
calpain_III
|
355 |
512 |
5.34e-91 |
SMART |
|
EFh
|
579 |
607 |
3.12e0 |
SMART |
|
EFh
|
609 |
637 |
4.32e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168514
AA Change: D330V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129549
Gene: ENSMUSG00000038599
AA Change: D330V
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
352 |
5.02e-183 |
SMART |
|
Pfam:Calpain_III
|
355 |
381 |
6.3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192671
AA Change: D330V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: D330V
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
352 |
2.2e-185 |
SMART |
|
calpain_III
|
355 |
512 |
1.4e-93 |
SMART |
|
EFh
|
579 |
607 |
1.5e-2 |
SMART |
|
EFh
|
609 |
637 |
2.1e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193260
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele or allele that produces a proteolytically inactive protein exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,111,880 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,993,184 (GRCm39) |
D4823N |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,118,760 (GRCm39) |
D178V |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,389,533 (GRCm39) |
V200A |
probably benign |
Het |
| Fcrla |
C |
T |
1: 170,749,245 (GRCm39) |
R96Q |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,047,970 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,874,148 (GRCm39) |
S425T |
probably benign |
Het |
| Mthfsl |
A |
G |
9: 88,570,834 (GRCm39) |
V195A |
probably damaging |
Het |
| Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Plxna4 |
G |
A |
6: 32,127,480 (GRCm39) |
Q1876* |
probably null |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,493,122 (GRCm39) |
Y375H |
probably damaging |
Het |
| Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
| Ssc5d |
G |
A |
7: 4,945,725 (GRCm39) |
G919D |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,364 (GRCm39) |
C245* |
probably null |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,495 (GRCm39) |
M429K |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
|
| Other mutations in Capn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01880:Capn8
|
APN |
1 |
182,425,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Capn8
|
APN |
1 |
182,426,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Capn8
|
UTSW |
1 |
182,429,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Capn8
|
UTSW |
1 |
182,429,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Capn8
|
UTSW |
1 |
182,457,703 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1653:Capn8
|
UTSW |
1 |
182,451,516 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1679:Capn8
|
UTSW |
1 |
182,441,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Capn8
|
UTSW |
1 |
182,426,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:Capn8
|
UTSW |
1 |
182,426,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Capn8
|
UTSW |
1 |
182,438,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2045:Capn8
|
UTSW |
1 |
182,440,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2298:Capn8
|
UTSW |
1 |
182,440,985 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4485:Capn8
|
UTSW |
1 |
182,426,306 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4835:Capn8
|
UTSW |
1 |
182,432,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5055:Capn8
|
UTSW |
1 |
182,399,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Capn8
|
UTSW |
1 |
182,424,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Capn8
|
UTSW |
1 |
182,456,169 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5497:Capn8
|
UTSW |
1 |
182,447,745 (GRCm39) |
missense |
probably benign |
|
|
R6307:Capn8
|
UTSW |
1 |
182,435,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6895:Capn8
|
UTSW |
1 |
182,456,234 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7216:Capn8
|
UTSW |
1 |
182,426,363 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7438:Capn8
|
UTSW |
1 |
182,426,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Capn8
|
UTSW |
1 |
182,392,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Capn8
|
UTSW |
1 |
182,392,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8334:Capn8
|
UTSW |
1 |
182,438,670 (GRCm39) |
splice site |
probably null |
|
|
R8837:Capn8
|
UTSW |
1 |
182,456,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9746:Capn8
|
UTSW |
1 |
182,438,670 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Capn8
|
UTSW |
1 |
182,440,911 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAATTGAGACTCTGACCAC -3'
(R):5'- TGTTAAAAGTCACGCAGCCTC -3'
Sequencing Primer
(F):5'- CAACAACAAATCTGGATGGTAGCTC -3'
(R):5'- CTCCACAGGAAAAGCCAGAGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation