Incidental Mutation 'R5937:Capn10'
| ID |
462305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn10
|
| Ensembl Gene |
ENSMUSG00000026270 |
| Gene Name |
calpain 10 |
| Synonyms |
Capn8 |
| MMRRC Submission |
043242-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R5937 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92862130-92875670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92867105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 112
(R112W)
|
| 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: R112W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: R112W
| 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: R112W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112831
Gene: ENSMUSG00000026270
AA Change: R112W
| 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: R112W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: R112W
| 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: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,495 (GRCm39) |
W314R |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,255,194 (GRCm39) |
V6143E |
probably damaging |
Het |
| Agap3 |
C |
T |
5: 24,682,815 (GRCm39) |
T261I |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,838 (GRCm39) |
I241T |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,051 (GRCm39) |
T1328A |
probably benign |
Het |
| Car5a |
A |
T |
8: 122,666,560 (GRCm39) |
W46R |
probably damaging |
Het |
| Cntn6 |
C |
A |
6: 104,810,064 (GRCm39) |
T582K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,943,509 (GRCm39) |
V60A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,410 (GRCm39) |
F259L |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,478 (GRCm39) |
C91S |
possibly damaging |
Het |
| Fam228a |
T |
C |
12: 4,787,725 (GRCm39) |
E16G |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,256 (GRCm39) |
I388T |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,928,949 (GRCm39) |
K926N |
probably benign |
Het |
| Gm10097 |
G |
A |
10: 5,019,485 (GRCm39) |
|
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
A |
G |
11: 57,080,559 (GRCm39) |
T112A |
probably benign |
Het |
| Hnrnpk |
A |
C |
13: 58,543,016 (GRCm39) |
V134G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,224,808 (GRCm39) |
V220A |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,023 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,419,745 (GRCm39) |
T955A |
possibly damaging |
Het |
| Lrtm1 |
T |
C |
14: 28,743,787 (GRCm39) |
V85A |
possibly damaging |
Het |
| Man2a2 |
T |
C |
7: 80,013,251 (GRCm39) |
Y514C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,197,187 (GRCm39) |
D226V |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,619,074 (GRCm39) |
V858I |
probably benign |
Het |
| Or14c40 |
G |
T |
7: 86,313,684 (GRCm39) |
L271F |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,675 (GRCm39) |
S215T |
probably damaging |
Het |
| Pde6b |
G |
T |
5: 108,572,193 (GRCm39) |
A478S |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,487 (GRCm39) |
N789K |
possibly damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,839 (GRCm39) |
D120G |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,011,110 (GRCm39) |
T220A |
probably benign |
Het |
| Sdr39u1 |
A |
T |
14: 56,135,364 (GRCm39) |
I193K |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,891,368 (GRCm39) |
M54I |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,804,652 (GRCm39) |
|
probably null |
Het |
| Taf5 |
C |
T |
19: 47,070,334 (GRCm39) |
S640L |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,236 (GRCm39) |
H174L |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,716 (GRCm39) |
V351D |
probably damaging |
Het |
| Ttll7 |
C |
T |
3: 146,649,847 (GRCm39) |
Q626* |
probably null |
Het |
| Ubn2 |
T |
A |
6: 38,440,917 (GRCm39) |
V263E |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,505,667 (GRCm39) |
W9* |
probably null |
Het |
| Xrcc3 |
C |
G |
12: 111,774,406 (GRCm39) |
C141S |
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,974,958 (GRCm39) |
D385E |
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 |
|
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 |
|
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 |
|
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'- TACAGGTGACAGTGGCTCTC -3'
(R):5'- CATCTTGGTGCTGAAGCCAC -3'
Sequencing Primer
(F):5'- TGACAGTGGCTCTCCGGTG -3'
(R):5'- TGCTGAAGCCACCCAGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation