Incidental Mutation 'R6895:Capn8'
ID |
538270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn8
|
Ensembl Gene |
ENSMUSG00000038599 |
Gene Name |
calpain 8 |
Synonyms |
nCL-2', nCL-2 |
MMRRC Submission |
044989-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6895 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
182392572-182459917 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 182456234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 661
(D661E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048941]
[ENSMUST00000192671]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048941
AA Change: D661E
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000047164 Gene: ENSMUSG00000038599 AA Change: D661E
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 |
unknown
Transcript: ENSMUST00000192671
AA Change: T683N
|
SMART Domains |
Protein: ENSMUSP00000141275 Gene: ENSMUSG00000038599 AA Change: T683N
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (45/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd29 |
A |
G |
18: 12,394,046 (GRCm39) |
V256A |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,110,076 (GRCm39) |
D139G |
probably benign |
Het |
AU040320 |
T |
C |
4: 126,685,723 (GRCm39) |
W100R |
probably damaging |
Het |
C4bp |
T |
C |
1: 130,563,943 (GRCm39) |
*470W |
probably null |
Het |
Car14 |
T |
C |
3: 95,805,472 (GRCm39) |
T334A |
probably benign |
Het |
Cfhr4 |
G |
A |
1: 139,668,210 (GRCm39) |
P308S |
possibly damaging |
Het |
Chd6 |
T |
A |
2: 160,830,260 (GRCm39) |
T1012S |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,529,910 (GRCm39) |
|
probably null |
Het |
Dnaaf2 |
A |
G |
12: 69,244,437 (GRCm39) |
V208A |
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,958,926 (GRCm39) |
W2986R |
probably damaging |
Het |
Epb42 |
G |
A |
2: 120,867,104 (GRCm39) |
|
probably benign |
Het |
Fam120a |
A |
G |
13: 49,045,497 (GRCm39) |
F780L |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Grid2 |
T |
C |
6: 64,372,283 (GRCm39) |
F655S |
probably damaging |
Het |
Homer3 |
T |
C |
8: 70,737,955 (GRCm39) |
S2P |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,038,883 (GRCm39) |
V207A |
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,445,557 (GRCm39) |
|
probably null |
Het |
Jak1 |
C |
T |
4: 101,011,734 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
A |
G |
10: 67,052,869 (GRCm39) |
I220V |
probably benign |
Het |
Kat6a |
T |
G |
8: 23,425,799 (GRCm39) |
S1115A |
possibly damaging |
Het |
Larp4 |
T |
G |
15: 99,905,611 (GRCm39) |
|
probably null |
Het |
Lrrc72 |
T |
G |
12: 36,259,717 (GRCm39) |
D43A |
probably damaging |
Het |
Mptx2 |
A |
C |
1: 173,105,252 (GRCm39) |
V13G |
probably benign |
Het |
Nmbr |
A |
T |
10: 14,645,704 (GRCm39) |
*258Y |
probably null |
Het |
Nup210l |
C |
T |
3: 90,067,231 (GRCm39) |
A757V |
probably damaging |
Het |
Nup62 |
A |
G |
7: 44,479,157 (GRCm39) |
K391E |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 94,970,314 (GRCm39) |
I71K |
probably damaging |
Het |
Or14a256 |
A |
T |
7: 86,265,323 (GRCm39) |
C177S |
probably damaging |
Het |
Or8b51 |
A |
C |
9: 38,569,385 (GRCm39) |
L101R |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,254,346 (GRCm39) |
M547T |
possibly damaging |
Het |
Ropn1 |
A |
T |
16: 34,497,668 (GRCm39) |
I187F |
possibly damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,264 (GRCm39) |
R96G |
possibly damaging |
Het |
Sfrp5 |
A |
T |
19: 42,188,227 (GRCm39) |
S197R |
probably damaging |
Het |
Slc12a6 |
A |
G |
2: 112,185,440 (GRCm39) |
H903R |
probably damaging |
Het |
Slc26a3 |
G |
T |
12: 31,513,523 (GRCm39) |
A482S |
probably damaging |
Het |
Slc2a12 |
G |
T |
10: 22,568,084 (GRCm39) |
A504S |
probably damaging |
Het |
Slitrk5 |
C |
A |
14: 111,919,085 (GRCm39) |
P903Q |
probably damaging |
Het |
Tas2r123 |
A |
T |
6: 132,824,133 (GRCm39) |
H10L |
probably benign |
Het |
Tex46 |
T |
C |
4: 136,340,212 (GRCm39) |
V99A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,413,604 (GRCm38) |
V1024A |
probably benign |
Het |
Ugt2b36 |
G |
A |
5: 87,240,157 (GRCm39) |
T76I |
probably benign |
Het |
Usp31 |
G |
T |
7: 121,252,399 (GRCm39) |
T747K |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
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 |
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 |
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'- GTTTCCACAGAATCATGGATGGC -3'
(R):5'- GCCCCTAAAGTGTCTATCGTC -3'
Sequencing Primer
(F):5'- AGAATCATGGATGGCCCCTGTG -3'
(R):5'- ATCGTCCCATCCTCATGAATATCAG -3'
|
Posted On |
2018-11-06 |