Incidental Mutation 'IGL03224:Capn10'
ID |
413739 |
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: 0.144)
|
Stock # |
IGL03224
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
92862130-92875670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 92867046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 92
(V92G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027488]
[ENSMUST00000117814]
[ENSMUST00000152983]
|
AlphaFold |
Q9ESK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027488
AA Change: V92G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027488 Gene: ENSMUSG00000026270 AA Change: V92G
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 damaging
Transcript: ENSMUST00000117814
AA Change: V92G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112831 Gene: ENSMUSG00000026270 AA Change: V92G
Domain | Start | End | E-Value | Type |
CysPc
|
2 |
263 |
1.29e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128429
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152983
AA Change: V92G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122158 Gene: ENSMUSG00000026270 AA Change: V92G
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 |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
T |
C |
3: 88,942,575 (GRCm39) |
|
probably benign |
Het |
Cntn2 |
A |
G |
1: 132,450,780 (GRCm39) |
C532R |
probably damaging |
Het |
Csf1r |
T |
C |
18: 61,245,134 (GRCm39) |
F233L |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,349,547 (GRCm39) |
D82G |
probably damaging |
Het |
Cym |
T |
C |
3: 107,126,048 (GRCm39) |
S72G |
possibly damaging |
Het |
Cyp4a29 |
T |
A |
4: 115,104,247 (GRCm39) |
M105K |
probably damaging |
Het |
Dhx35 |
T |
C |
2: 158,699,052 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
C |
A |
15: 28,459,300 (GRCm39) |
D4506E |
probably damaging |
Het |
Dok5 |
T |
C |
2: 170,674,807 (GRCm39) |
F139L |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,076,235 (GRCm39) |
D2974G |
probably benign |
Het |
Frem3 |
C |
T |
8: 81,340,092 (GRCm39) |
T795I |
probably damaging |
Het |
Ints6l |
A |
G |
X: 55,543,287 (GRCm39) |
T525A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,361,043 (GRCm39) |
T587A |
possibly damaging |
Het |
Meikin |
A |
G |
11: 54,289,286 (GRCm39) |
M220V |
probably benign |
Het |
Mmp12 |
T |
A |
9: 7,350,002 (GRCm39) |
|
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,180,283 (GRCm39) |
Y1190C |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,185,525 (GRCm39) |
K963E |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,322,569 (GRCm39) |
D2614G |
probably damaging |
Het |
Ppp1r3f |
A |
G |
X: 7,426,821 (GRCm39) |
V480A |
probably benign |
Het |
Prkcb |
A |
T |
7: 122,116,147 (GRCm39) |
K209* |
probably null |
Het |
Rasgef1a |
A |
G |
6: 118,066,767 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,784,681 (GRCm39) |
C233* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,933,520 (GRCm39) |
R1534G |
probably damaging |
Het |
Slitrk3 |
A |
T |
3: 72,957,263 (GRCm39) |
L503H |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 99,918,156 (GRCm39) |
K380E |
possibly damaging |
Het |
Spata31d1a |
A |
G |
13: 59,848,840 (GRCm39) |
V1096A |
possibly damaging |
Het |
Synrg |
C |
T |
11: 83,930,492 (GRCm39) |
T1278M |
possibly damaging |
Het |
Teddm1a |
G |
T |
1: 153,767,763 (GRCm39) |
V76F |
possibly damaging |
Het |
Troap |
A |
G |
15: 98,979,758 (GRCm39) |
T365A |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,391,776 (GRCm39) |
|
probably benign |
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 |
IGL02952:Capn10
|
APN |
1 |
92,872,896 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03177:Capn10
|
APN |
1 |
92,862,704 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2016-08-02 |