Incidental Mutation 'R2433:Capn10'
| ID |
250479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn10
|
| Ensembl Gene |
ENSMUSG00000026270 |
| Gene Name |
calpain 10 |
| Synonyms |
Capn8 |
| MMRRC Submission |
040394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R2433 (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 92870247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 244
(D244E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027488]
[ENSMUST00000117814]
[ENSMUST00000152983]
|
| AlphaFold |
Q9ESK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027488
AA Change: D244E
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: D244E
| 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
AA Change: D244E
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: D244E
| 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 |
unknown
Transcript: ENSMUST00000187342
AA Change: D28E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191563
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a4 |
A |
G |
6: 38,058,964 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,801,597 (GRCm39) |
K573E |
probably damaging |
Het |
| Dhrs11 |
C |
A |
11: 84,719,745 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,913,042 (GRCm39) |
G248R |
probably damaging |
Het |
| Fam120a |
A |
C |
13: 49,087,444 (GRCm39) |
D305E |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,802,393 (GRCm39) |
L97P |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,064,885 (GRCm39) |
S3033C |
possibly damaging |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,559 (GRCm39) |
T94A |
probably benign |
Het |
| Krtap16-3 |
T |
C |
16: 88,759,533 (GRCm39) |
Y60C |
unknown |
Het |
| Lrp4 |
G |
A |
2: 91,336,360 (GRCm39) |
V1724I |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,892,158 (GRCm39) |
Y1634C |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,160 (GRCm39) |
Y96C |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,929,912 (GRCm39) |
|
probably null |
Het |
| Pde3b |
T |
C |
7: 114,126,072 (GRCm39) |
C769R |
probably benign |
Het |
| Phlpp2 |
T |
G |
8: 110,666,634 (GRCm39) |
C1054W |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,311,178 (GRCm39) |
V193D |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,127 (GRCm39) |
L433S |
probably benign |
Het |
| Sema4f |
A |
T |
6: 82,916,490 (GRCm39) |
C13S |
possibly damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,072,944 (GRCm39) |
L689P |
probably benign |
Het |
| Slc7a6os |
T |
C |
8: 106,931,003 (GRCm39) |
N211S |
possibly damaging |
Het |
| Smurf2 |
T |
A |
11: 106,759,490 (GRCm39) |
I69F |
probably benign |
Het |
| St8sia3 |
A |
T |
18: 64,402,787 (GRCm39) |
H198L |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,829,083 (GRCm39) |
K594R |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,721,544 (GRCm39) |
I1396K |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,876 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,193 (GRCm39) |
Y351* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCACTGCAAATAGCTG -3'
(R):5'- TCCTACAGGAAGGCAAGCAC -3'
Sequencing Primer
(F):5'- ACTGCAAATAGCTGGCCTG -3'
(R):5'- ATCCTGGCAGCTAGACACG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation