Incidental Mutation 'R5077:Capn2'
| ID |
401918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn2
|
| Ensembl Gene |
ENSMUSG00000026509 |
| Gene Name |
calpain 2 |
| Synonyms |
Capa2, Capa-2, m-calpain |
| MMRRC Submission |
042666-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
182294825-182345173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 182300138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 617
(D617E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068505]
|
| AlphaFold |
O08529 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068505
AA Change: D617E
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: D617E
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
352 |
1.62e-186 |
SMART |
|
calpain_III
|
355 |
510 |
3.47e-90 |
SMART |
|
low complexity region
|
513 |
532 |
N/A |
INTRINSIC |
|
EFh
|
576 |
604 |
5.86e0 |
SMART |
|
EFh
|
606 |
634 |
3.21e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194961
|
| Meta Mutation Damage Score |
0.1771 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
93% (51/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Mice homozygous for one null allele display placental dysfunction, thin ventricular walls, and peripheral vessel failure. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,080,200 (GRCm39) |
V8A |
possibly damaging |
Het |
| Agbl4 |
A |
T |
4: 111,423,939 (GRCm39) |
M322L |
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,492,522 (GRCm39) |
K231R |
probably benign |
Het |
| Asap1 |
A |
C |
15: 63,999,272 (GRCm39) |
M534R |
probably damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,767,140 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,437,475 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,594,224 (GRCm39) |
I2311M |
probably benign |
Het |
| Catsper1 |
A |
G |
19: 5,385,998 (GRCm39) |
D77G |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,922,098 (GRCm39) |
|
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,820,470 (GRCm39) |
K109E |
probably damaging |
Het |
| Dbx1 |
A |
G |
7: 49,283,242 (GRCm39) |
S223P |
probably damaging |
Het |
| Dlg4 |
A |
G |
11: 69,917,852 (GRCm39) |
N45S |
possibly damaging |
Het |
| Dlgap2 |
T |
G |
8: 14,872,691 (GRCm39) |
V723G |
probably benign |
Het |
| Efl1 |
C |
A |
7: 82,307,295 (GRCm39) |
Q64K |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,472,871 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,117 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
A |
T |
2: 98,497,379 (GRCm39) |
L80M |
probably benign |
Het |
| H4c16 |
A |
G |
6: 136,781,113 (GRCm39) |
Y89H |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,239,964 (GRCm39) |
V112E |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,307,797 (GRCm39) |
S123P |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,851 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,658 (GRCm39) |
V119A |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,562,639 (GRCm39) |
V474M |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,379,277 (GRCm39) |
V219E |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,590,274 (GRCm39) |
I523V |
probably benign |
Het |
| Nrp1 |
G |
T |
8: 129,227,154 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
A |
T |
4: 115,905,781 (GRCm39) |
D58E |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,934,883 (GRCm39) |
A5249D |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,683 (GRCm39) |
H142Q |
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,874 (GRCm39) |
Y174* |
probably null |
Het |
| Pi4k2a |
T |
C |
19: 42,108,275 (GRCm39) |
|
probably null |
Het |
| Pram1 |
C |
T |
17: 33,863,878 (GRCm39) |
Q572* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,756,158 (GRCm39) |
T25K |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,771,439 (GRCm39) |
Y240H |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rbck1 |
A |
C |
2: 152,160,371 (GRCm39) |
M436R |
probably benign |
Het |
| Resf1 |
T |
G |
6: 149,227,528 (GRCm39) |
S191R |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,488 (GRCm39) |
N64D |
possibly damaging |
Het |
| Rsph4a |
A |
G |
10: 33,784,275 (GRCm39) |
D299G |
probably damaging |
Het |
| Sema4c |
T |
C |
1: 36,590,812 (GRCm39) |
S480G |
probably benign |
Het |
| Srp68 |
T |
C |
11: 116,136,638 (GRCm39) |
D552G |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 145,707,764 (GRCm39) |
A568S |
probably damaging |
Het |
| Szrd1 |
G |
T |
4: 140,867,092 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
T |
4: 118,226,813 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
A |
G |
15: 57,818,797 (GRCm39) |
E800G |
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,122 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
G |
1: 74,480,720 (GRCm39) |
V895A |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,026 (GRCm39) |
I193T |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,834 (GRCm39) |
V283A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,814,811 (GRCm39) |
G3180D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,821 (GRCm39) |
D2354A |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,465 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Capn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Capn2
|
APN |
1 |
182,301,519 (GRCm39) |
splice site |
probably benign |
|
|
IGL02589:Capn2
|
APN |
1 |
182,311,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02679:Capn2
|
APN |
1 |
182,300,149 (GRCm39) |
missense |
probably benign |
|
|
IGL03207:Capn2
|
APN |
1 |
182,316,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
E7848:Capn2
|
UTSW |
1 |
182,314,159 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0070:Capn2
|
UTSW |
1 |
182,301,434 (GRCm39) |
splice site |
probably benign |
|
|
R0070:Capn2
|
UTSW |
1 |
182,301,434 (GRCm39) |
splice site |
probably benign |
|
|
R0540:Capn2
|
UTSW |
1 |
182,319,749 (GRCm39) |
nonsense |
probably null |
|
|
R0571:Capn2
|
UTSW |
1 |
182,298,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1620:Capn2
|
UTSW |
1 |
182,344,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Capn2
|
UTSW |
1 |
182,300,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1819:Capn2
|
UTSW |
1 |
182,300,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1822:Capn2
|
UTSW |
1 |
182,300,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1880:Capn2
|
UTSW |
1 |
182,316,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Capn2
|
UTSW |
1 |
182,307,290 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2391:Capn2
|
UTSW |
1 |
182,306,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2860:Capn2
|
UTSW |
1 |
182,300,485 (GRCm39) |
splice site |
probably benign |
|
|
R2861:Capn2
|
UTSW |
1 |
182,300,485 (GRCm39) |
splice site |
probably benign |
|
|
R2878:Capn2
|
UTSW |
1 |
182,344,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3052:Capn2
|
UTSW |
1 |
182,315,337 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4463:Capn2
|
UTSW |
1 |
182,307,329 (GRCm39) |
intron |
probably benign |
|
|
R4669:Capn2
|
UTSW |
1 |
182,298,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5397:Capn2
|
UTSW |
1 |
182,298,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Capn2
|
UTSW |
1 |
182,306,165 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6777:Capn2
|
UTSW |
1 |
182,297,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6800:Capn2
|
UTSW |
1 |
182,309,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7741:Capn2
|
UTSW |
1 |
182,307,288 (GRCm39) |
nonsense |
probably null |
|
|
R7814:Capn2
|
UTSW |
1 |
182,319,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Capn2
|
UTSW |
1 |
182,306,111 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8223:Capn2
|
UTSW |
1 |
182,310,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8446:Capn2
|
UTSW |
1 |
182,311,796 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8496:Capn2
|
UTSW |
1 |
182,304,840 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9623:Capn2
|
UTSW |
1 |
182,344,795 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCTTGTTCTACCAGGC -3'
(R):5'- TGCCTGATAAGTGACCAGAAATG -3'
Sequencing Primer
(F):5'- ATAGAACCCAGGGCCTTGTG -3'
(R):5'- ATGAGGTCACTGTCAAGAGTTTCCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation