Incidental Mutation 'R5733:Capn10'
| ID |
451519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn10
|
| Ensembl Gene |
ENSMUSG00000026270 |
| Gene Name |
calpain 10 |
| Synonyms |
Capn8 |
| MMRRC Submission |
043193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5733 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92934376-92947941 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92943913 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 411
(Y411C)
|
| 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: Y411C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: Y411C
| 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: Y411C
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: Y411C
| 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 |
silent
Transcript: ENSMUST00000187342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191563
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406P16Rik |
A |
T |
7: 34,245,080 (GRCm38) |
S76T |
probably damaging |
Het |
| Acox3 |
T |
A |
5: 35,605,199 (GRCm38) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,775,666 (GRCm38) |
Y657* |
probably null |
Het |
| Anxa3 |
T |
A |
5: 96,820,472 (GRCm38) |
I128N |
probably damaging |
Het |
| Bsnd |
T |
C |
4: 106,488,001 (GRCm38) |
T83A |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,484,594 (GRCm38) |
W201* |
probably null |
Het |
| Crtap |
T |
C |
9: 114,378,096 (GRCm38) |
T365A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,945,498 (GRCm38) |
D329G |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,376,266 (GRCm38) |
L2761Q |
possibly damaging |
Het |
| Dpcr1 |
T |
C |
17: 35,638,210 (GRCm38) |
M166V |
probably benign |
Het |
| Fcho2 |
A |
C |
13: 98,789,802 (GRCm38) |
V91G |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,200,658 (GRCm38) |
C141S |
possibly damaging |
Het |
| Fkbp15 |
G |
C |
4: 62,306,929 (GRCm38) |
A831G |
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,300,957 (GRCm38) |
R14S |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,370,326 (GRCm38) |
F176L |
possibly damaging |
Het |
| Garem2 |
A |
G |
5: 30,116,338 (GRCm38) |
D565G |
probably damaging |
Het |
| Iqca |
G |
T |
1: 90,070,535 (GRCm38) |
T549K |
probably damaging |
Het |
| Itgax |
T |
A |
7: 128,140,475 (GRCm38) |
S686R |
probably damaging |
Het |
| Knop1 |
C |
A |
7: 118,846,082 (GRCm38) |
G220C |
probably damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,169,142 (GRCm38) |
C49S |
probably damaging |
Het |
| Mpzl1 |
A |
T |
1: 165,605,611 (GRCm38) |
I157K |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,552,513 (GRCm38) |
I155V |
probably benign |
Het |
| Mvb12b |
T |
C |
2: 33,827,716 (GRCm38) |
T167A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 67,088,619 (GRCm38) |
N491S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,654,057 (GRCm38) |
D511G |
possibly damaging |
Het |
| Olfr1053 |
T |
G |
2: 86,315,214 (GRCm38) |
Q24P |
probably damaging |
Het |
| Olfr1329 |
C |
T |
4: 118,916,838 (GRCm38) |
V210I |
probably benign |
Het |
| Olfr449 |
C |
T |
6: 42,838,246 (GRCm38) |
R122C |
probably damaging |
Het |
| Olfr749 |
T |
C |
14: 50,737,052 (GRCm38) |
T37A |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,154,861 (GRCm38) |
M476T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,421,295 (GRCm38) |
|
probably null |
Het |
| Ranbp2 |
G |
A |
10: 58,485,836 (GRCm38) |
D2652N |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,558,014 (GRCm38) |
V166A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,783,104 (GRCm38) |
H907R |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,988,107 (GRCm38) |
E6G |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,216,923 (GRCm38) |
T15S |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 45,759,189 (GRCm38) |
L100P |
probably damaging |
Het |
| Sprr2k |
T |
C |
3: 92,433,348 (GRCm38) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 23,821,386 (GRCm38) |
S2431T |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,413,137 (GRCm38) |
K57* |
probably null |
Het |
| Ttc21a |
G |
A |
9: 119,941,261 (GRCm38) |
V133I |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,650,162 (GRCm38) |
Y658H |
possibly damaging |
Het |
| Zfp251 |
A |
G |
15: 76,870,327 (GRCm38) |
Y35H |
probably damaging |
Het |
|
| Other mutations in Capn10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Capn10
|
APN |
1 |
92,942,559 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01071:Capn10
|
APN |
1 |
92,945,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01682:Capn10
|
APN |
1 |
92,940,384 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01771:Capn10
|
APN |
1 |
92,940,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02952:Capn10
|
APN |
1 |
92,945,174 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03177:Capn10
|
APN |
1 |
92,934,982 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03224:Capn10
|
APN |
1 |
92,939,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P4717OSA:Capn10
|
UTSW |
1 |
92,939,394 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1256:Capn10
|
UTSW |
1 |
92,946,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1405:Capn10
|
UTSW |
1 |
92,945,022 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1405:Capn10
|
UTSW |
1 |
92,945,022 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1653:Capn10
|
UTSW |
1 |
92,946,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1737:Capn10
|
UTSW |
1 |
92,934,955 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2127:Capn10
|
UTSW |
1 |
92,938,034 (GRCm38) |
nonsense |
probably null |
|
|
R2433:Capn10
|
UTSW |
1 |
92,942,525 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2484:Capn10
|
UTSW |
1 |
92,944,843 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4004:Capn10
|
UTSW |
1 |
92,940,591 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4005:Capn10
|
UTSW |
1 |
92,940,591 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4560:Capn10
|
UTSW |
1 |
92,939,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Capn10
|
UTSW |
1 |
92,943,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4766:Capn10
|
UTSW |
1 |
92,943,419 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4996:Capn10
|
UTSW |
1 |
92,945,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Capn10
|
UTSW |
1 |
92,937,931 (GRCm38) |
splice site |
probably null |
|
|
R5937:Capn10
|
UTSW |
1 |
92,939,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6985:Capn10
|
UTSW |
1 |
92,943,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7140:Capn10
|
UTSW |
1 |
92,945,271 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7495:Capn10
|
UTSW |
1 |
92,943,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8170:Capn10
|
UTSW |
1 |
92,934,964 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8393:Capn10
|
UTSW |
1 |
92,943,408 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8943:Capn10
|
UTSW |
1 |
92,943,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9303:Capn10
|
UTSW |
1 |
92,943,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9305:Capn10
|
UTSW |
1 |
92,943,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9655:Capn10
|
UTSW |
1 |
92,939,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9776:Capn10
|
UTSW |
1 |
92,943,864 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGAACAACAGTTGCTTTCC -3'
(R):5'- AGCAGCCCTAGTATAATGGGAAAC -3'
Sequencing Primer
(F):5'- CCTGCAACCCCAAGTTCTGG -3'
(R):5'- GGAAACTCTTCCCTTGGGAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation