Incidental Mutation 'R4005:Capn10'
| ID |
475040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn10
|
| Ensembl Gene |
ENSMUSG00000026270 |
| Gene Name |
calpain 10 |
| Synonyms |
Capn8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R4005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92862130-92875670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92868313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 260
(L260Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027488]
[ENSMUST00000117814]
[ENSMUST00000152983]
|
| AlphaFold |
Q9ESK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027488
|
| SMART Domains |
Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
| 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: L260Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112831
Gene: ENSMUSG00000026270
AA Change: L260Q
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
2 |
263 |
1.29e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128429
|
| 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 |
probably benign
Transcript: ENSMUST00000187342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191563
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
A |
3: 89,657,094 (GRCm39) |
L488Q |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,868 (GRCm39) |
T348A |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,816 (GRCm39) |
M300T |
probably benign |
Het |
| Asl |
C |
T |
5: 130,047,673 (GRCm39) |
|
probably null |
Het |
| Cdhr3 |
T |
C |
12: 33,130,355 (GRCm39) |
D160G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,374,870 (GRCm39) |
E1372G |
probably damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,395,755 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,875,390 (GRCm39) |
A530T |
probably damaging |
Het |
| Cstl1 |
A |
T |
2: 148,597,190 (GRCm39) |
I64F |
probably damaging |
Het |
| Ddx28 |
C |
G |
8: 106,737,560 (GRCm39) |
R166P |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,635,506 (GRCm39) |
M60T |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,513,809 (GRCm39) |
R844W |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,598,204 (GRCm39) |
L1699F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,981 (GRCm39) |
L1400H |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Ilkap |
T |
A |
1: 91,312,985 (GRCm39) |
N170I |
probably benign |
Het |
| Kctd3 |
T |
G |
1: 188,734,124 (GRCm39) |
I39L |
possibly damaging |
Het |
| Lrit3 |
C |
A |
3: 129,585,021 (GRCm39) |
V246L |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,678,299 (GRCm39) |
I619T |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,566,415 (GRCm39) |
P2102H |
unknown |
Het |
| Mcm10 |
G |
T |
2: 5,005,814 (GRCm39) |
S440R |
probably damaging |
Het |
| Mtss2 |
CG |
CGG |
8: 111,465,673 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,257,975 (GRCm39) |
N531S |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,579,429 (GRCm39) |
D31E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ogn |
A |
C |
13: 49,762,775 (GRCm39) |
E39A |
possibly damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,088 (GRCm39) |
V248I |
probably benign |
Het |
| Or52z14 |
A |
G |
7: 103,253,470 (GRCm39) |
Y203C |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,652,210 (GRCm39) |
I214L |
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,839 (GRCm39) |
T261A |
probably benign |
Het |
| Rgs2 |
T |
A |
1: 143,877,606 (GRCm39) |
I150L |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,245,774 (GRCm39) |
D490E |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,997,265 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,966,195 (GRCm39) |
S144G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation