Incidental Mutation 'IGL02952:Capn10'
ID |
364964 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Capn10
|
Ensembl Gene |
ENSMUSG00000026270 |
Gene Name |
calpain 10 |
Synonyms |
Capn8 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL02952
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
92862130-92875670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92872896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 541
(S541P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027488]
[ENSMUST00000117814]
[ENSMUST00000152983]
|
AlphaFold |
Q9ESK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027488
AA Change: S541P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027488 Gene: ENSMUSG00000026270 AA Change: S541P
Domain | Start | End | E-Value | Type |
CysPc
|
2 |
329 |
1.75e-59 |
SMART |
calpain_III
|
338 |
488 |
2.05e-60 |
SMART |
calpain_III
|
507 |
645 |
1.3e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117814
|
SMART Domains |
Protein: ENSMUSP00000112831 Gene: ENSMUSG00000026270
Domain | Start | End | E-Value | Type |
CysPc
|
2 |
263 |
1.29e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128429
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152983
|
SMART Domains |
Protein: ENSMUSP00000122158 Gene: ENSMUSG00000026270
Domain | Start | End | E-Value | Type |
CysPc
|
2 |
329 |
1.75e-59 |
SMART |
calpain_III
|
338 |
488 |
2.71e-60 |
SMART |
low complexity region
|
490 |
499 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153828
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187342
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191563
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,654,984 (GRCm39) |
D1436V |
probably damaging |
Het |
Abca7 |
G |
T |
10: 79,843,242 (GRCm39) |
R1239L |
probably damaging |
Het |
Acp2 |
T |
C |
2: 91,038,788 (GRCm39) |
|
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,078,917 (GRCm39) |
N179S |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,581,755 (GRCm39) |
D4763G |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,882,844 (GRCm39) |
V633A |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,461,338 (GRCm39) |
I342K |
probably damaging |
Het |
Ccnf |
A |
G |
17: 24,450,299 (GRCm39) |
L462P |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,408,290 (GRCm39) |
Y546C |
probably damaging |
Het |
Cep120 |
G |
T |
18: 53,816,300 (GRCm39) |
|
probably benign |
Het |
Cetn2 |
T |
C |
X: 71,957,808 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
C |
T |
9: 57,609,993 (GRCm39) |
S469L |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,979,094 (GRCm39) |
T1766I |
probably benign |
Het |
Doc2g |
G |
A |
19: 4,056,719 (GRCm39) |
G345D |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,760,902 (GRCm39) |
|
probably null |
Het |
Dop1a |
T |
A |
9: 86,414,975 (GRCm39) |
|
probably benign |
Het |
Emilin2 |
C |
A |
17: 71,587,816 (GRCm39) |
V99F |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,624,275 (GRCm39) |
S31P |
probably benign |
Het |
Gask1b |
T |
C |
3: 79,793,646 (GRCm39) |
L38P |
probably damaging |
Het |
Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
Gm9742 |
T |
A |
13: 8,079,930 (GRCm39) |
|
noncoding transcript |
Het |
Gpr160 |
T |
C |
3: 30,950,443 (GRCm39) |
Y172H |
probably benign |
Het |
Ifnk |
T |
A |
4: 35,152,495 (GRCm39) |
L141Q |
probably damaging |
Het |
Klhl36 |
A |
G |
8: 120,597,223 (GRCm39) |
E308G |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,396,715 (GRCm39) |
I450M |
probably benign |
Het |
Noxa1 |
T |
C |
2: 24,981,773 (GRCm39) |
Y110C |
probably damaging |
Het |
Or10ad1 |
T |
C |
15: 98,105,470 (GRCm39) |
Y265C |
probably damaging |
Het |
Pkd2 |
A |
T |
5: 104,628,026 (GRCm39) |
T367S |
possibly damaging |
Het |
Polg2 |
T |
C |
11: 106,663,539 (GRCm39) |
I385V |
possibly damaging |
Het |
Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,993,014 (GRCm39) |
S17P |
unknown |
Het |
Prss22 |
C |
A |
17: 24,215,697 (GRCm39) |
C75F |
probably damaging |
Het |
Ptgs1 |
A |
G |
2: 36,141,253 (GRCm39) |
K567E |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,036,925 (GRCm39) |
I1141M |
probably damaging |
Het |
R3hcc1l |
A |
G |
19: 42,552,433 (GRCm39) |
K477E |
probably damaging |
Het |
Riok1 |
A |
G |
13: 38,232,866 (GRCm39) |
Y194C |
probably damaging |
Het |
Smr2 |
T |
A |
5: 88,236,095 (GRCm39) |
C16S |
possibly damaging |
Het |
Stk25 |
A |
T |
1: 93,553,798 (GRCm39) |
I187N |
probably damaging |
Het |
Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
Vmn2r3 |
T |
C |
3: 64,186,256 (GRCm39) |
E143G |
probably damaging |
Het |
|
Other mutations in Capn10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Capn10
|
APN |
1 |
92,870,281 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01071:Capn10
|
APN |
1 |
92,872,797 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01682:Capn10
|
APN |
1 |
92,868,106 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01771:Capn10
|
APN |
1 |
92,868,087 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03177:Capn10
|
APN |
1 |
92,862,704 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03224:Capn10
|
APN |
1 |
92,867,046 (GRCm39) |
missense |
probably damaging |
1.00 |
P4717OSA:Capn10
|
UTSW |
1 |
92,867,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Capn10
|
UTSW |
1 |
92,874,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R1405:Capn10
|
UTSW |
1 |
92,872,744 (GRCm39) |
missense |
probably benign |
0.34 |
R1405:Capn10
|
UTSW |
1 |
92,872,744 (GRCm39) |
missense |
probably benign |
0.34 |
R1653:Capn10
|
UTSW |
1 |
92,874,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:Capn10
|
UTSW |
1 |
92,862,677 (GRCm39) |
missense |
probably benign |
0.10 |
R2127:Capn10
|
UTSW |
1 |
92,865,756 (GRCm39) |
nonsense |
probably null |
|
R2433:Capn10
|
UTSW |
1 |
92,870,247 (GRCm39) |
missense |
probably benign |
0.22 |
R2484:Capn10
|
UTSW |
1 |
92,872,565 (GRCm39) |
missense |
probably damaging |
0.97 |
R4004:Capn10
|
UTSW |
1 |
92,868,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R4005:Capn10
|
UTSW |
1 |
92,868,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R4560:Capn10
|
UTSW |
1 |
92,867,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Capn10
|
UTSW |
1 |
92,871,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Capn10
|
UTSW |
1 |
92,871,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R4996:Capn10
|
UTSW |
1 |
92,872,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Capn10
|
UTSW |
1 |
92,865,653 (GRCm39) |
splice site |
probably null |
|
R5733:Capn10
|
UTSW |
1 |
92,871,635 (GRCm39) |
missense |
probably benign |
0.03 |
R5937:Capn10
|
UTSW |
1 |
92,867,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R6985:Capn10
|
UTSW |
1 |
92,871,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7140:Capn10
|
UTSW |
1 |
92,872,993 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7495:Capn10
|
UTSW |
1 |
92,871,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Capn10
|
UTSW |
1 |
92,862,686 (GRCm39) |
missense |
probably damaging |
0.98 |
R8393:Capn10
|
UTSW |
1 |
92,871,130 (GRCm39) |
missense |
probably benign |
0.09 |
R8943:Capn10
|
UTSW |
1 |
92,871,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Capn10
|
UTSW |
1 |
92,871,665 (GRCm39) |
critical splice donor site |
probably null |
|
R9305:Capn10
|
UTSW |
1 |
92,871,665 (GRCm39) |
critical splice donor site |
probably null |
|
R9655:Capn10
|
UTSW |
1 |
92,867,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Capn10
|
UTSW |
1 |
92,871,586 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Posted On |
2015-12-18 |