Incidental Mutation 'R7495:Capn10'
ID |
581020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn10
|
Ensembl Gene |
ENSMUSG00000026270 |
Gene Name |
calpain 10 |
Synonyms |
Capn8 |
MMRRC Submission |
045568-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7495 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
92862130-92875670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92871092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 301
(F301L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027488]
[ENSMUST00000117814]
[ENSMUST00000152983]
|
AlphaFold |
Q9ESK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027488
AA Change: F301L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027488 Gene: ENSMUSG00000026270 AA Change: F301L
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 |
probably damaging
Transcript: ENSMUST00000152983
AA Change: F301L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122158 Gene: ENSMUSG00000026270 AA Change: F301L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,915,871 (GRCm39) |
E1251G |
probably damaging |
Het |
Apba1 |
T |
C |
19: 23,913,963 (GRCm39) |
|
probably null |
Het |
Arap2 |
C |
T |
5: 62,833,893 (GRCm39) |
S858N |
possibly damaging |
Het |
Catip |
T |
C |
1: 74,401,851 (GRCm39) |
W9R |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,183,112 (GRCm39) |
|
probably null |
Het |
Cpq |
C |
T |
15: 33,302,586 (GRCm39) |
R246C |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,816,239 (GRCm39) |
S1067P |
probably benign |
Het |
Dpp3 |
T |
C |
19: 4,967,941 (GRCm39) |
E316G |
probably damaging |
Het |
Dpp9 |
T |
C |
17: 56,502,044 (GRCm39) |
Q508R |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,424,258 (GRCm39) |
N3060D |
probably benign |
Het |
Fstl5 |
A |
G |
3: 76,615,099 (GRCm39) |
Y720C |
possibly damaging |
Het |
Gm28168 |
T |
C |
1: 117,875,637 (GRCm39) |
S89P |
possibly damaging |
Het |
Hk2 |
C |
T |
6: 82,704,346 (GRCm39) |
G900E |
probably damaging |
Het |
Hrh1 |
A |
C |
6: 114,457,634 (GRCm39) |
D305A |
probably benign |
Het |
Htt |
C |
T |
5: 34,968,821 (GRCm39) |
S435L |
probably benign |
Het |
Ice2 |
G |
T |
9: 69,323,511 (GRCm39) |
V669L |
probably benign |
Het |
Klk1b27 |
G |
A |
7: 43,705,500 (GRCm39) |
V191I |
probably benign |
Het |
Med12l |
A |
G |
3: 59,152,194 (GRCm39) |
K993R |
probably damaging |
Het |
Nfe2l1 |
A |
G |
11: 96,710,622 (GRCm39) |
Y536H |
probably damaging |
Het |
Nr4a2 |
T |
C |
2: 57,002,171 (GRCm39) |
D94G |
possibly damaging |
Het |
Oit3 |
T |
C |
10: 59,259,765 (GRCm39) |
D546G |
possibly damaging |
Het |
Paxbp1 |
T |
C |
16: 90,813,837 (GRCm39) |
T847A |
probably damaging |
Het |
Pde12 |
A |
T |
14: 26,389,994 (GRCm39) |
N238K |
probably benign |
Het |
Pfkfb3 |
A |
C |
2: 11,487,312 (GRCm39) |
I366S |
probably damaging |
Het |
Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
Ptprb |
C |
A |
10: 116,177,353 (GRCm39) |
Q1018K |
probably benign |
Het |
Rxfp3 |
C |
A |
15: 11,036,011 (GRCm39) |
G454C |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,372,200 (GRCm39) |
V223A |
probably damaging |
Het |
Sema4c |
C |
A |
1: 36,589,774 (GRCm39) |
V527L |
probably benign |
Het |
Slk |
C |
A |
19: 47,627,417 (GRCm39) |
P1182T |
probably damaging |
Het |
Stt3a |
A |
G |
9: 36,659,235 (GRCm39) |
V368A |
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,875,160 (GRCm39) |
F601L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,540,299 (GRCm39) |
D34229G |
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,595,271 (GRCm39) |
H608R |
possibly damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,826 (GRCm39) |
C635* |
probably null |
Het |
Zfp473 |
A |
T |
7: 44,387,368 (GRCm39) |
F95Y |
probably benign |
Het |
Zfp984 |
A |
C |
4: 147,839,287 (GRCm39) |
S521R |
possibly 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 |
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 |
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'- AGTTTACAGTGCAGTGTATGGC -3'
(R):5'- AGACCAGTGGCAGTCAACTC -3'
Sequencing Primer
(F):5'- GCAAAAGTTTGAGGCTCTCC -3'
(R):5'- GGCAGTCAACTCACCCTCTG -3'
|
Posted On |
2019-10-17 |