Incidental Mutation 'R2298:Capn8'
| ID |
245216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn8
|
| Ensembl Gene |
ENSMUSG00000038599 |
| Gene Name |
calpain 8 |
| Synonyms |
nCL-2', nCL-2 |
| MMRRC Submission |
040297-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
182392572-182459917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 182440985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 473
(V473A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048941]
[ENSMUST00000192671]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048941
AA Change: V473A
PolyPhen 2
Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: V473A
| 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 benign
Transcript: ENSMUST00000192671
AA Change: V473A
PolyPhen 2
Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: V473A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
| Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,397 (GRCm39) |
I309N |
probably damaging |
Het |
| Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
| Creb3l1 |
G |
A |
2: 91,822,321 (GRCm39) |
P222S |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
| Galm |
T |
A |
17: 80,489,126 (GRCm39) |
C84* |
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,504 (GRCm39) |
K208E |
probably damaging |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
| Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
| Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
| Trpv6 |
A |
G |
6: 41,613,010 (GRCm39) |
I52T |
possibly damaging |
Het |
| Zfp768 |
T |
A |
7: 126,943,361 (GRCm39) |
M256L |
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 |
|
R4331:Capn8
|
UTSW |
1 |
182,432,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAGGCACAGTGAACTAGCTC -3'
(R):5'- TGGGGCCTAACTCAGAAAACC -3'
Sequencing Primer
(F):5'- GCACAGTGAACTAGCTCATGACTG -3'
(R):5'- TCAGAAAACCACCCCCTCCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation