Incidental Mutation 'R5999:Capn9'
| ID |
480725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn9
|
| Ensembl Gene |
ENSMUSG00000031981 |
| Gene Name |
calpain 9 |
| Synonyms |
GC36, nCL-4 |
| MMRRC Submission |
044178-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
R5999 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125302850-125345470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125315817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 87
(T87A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093033]
[ENSMUST00000133086]
|
| AlphaFold |
Q9D805 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093033
AA Change: T87A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090717
Gene: ENSMUSG00000031981
AA Change: T87A
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
24 |
345 |
1.53e-196 |
SMART |
|
calpain_III
|
348 |
494 |
1.91e-87 |
SMART |
|
low complexity region
|
504 |
522 |
N/A |
INTRINSIC |
|
EFh
|
565 |
593 |
1.25e-2 |
SMART |
|
EFh
|
595 |
623 |
2.64e-1 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133086
AA Change: D41G
|
| Meta Mutation Damage Score |
0.3308 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains are 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 subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
| Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
| Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
| Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
| Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
| Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
| Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
| Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
| Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
| Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
| Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
| Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
| Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
| Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
| Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
| Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
| Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
| Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
| Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
| Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
| Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
probably benign |
Het |
|
| Other mutations in Capn9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Capn9
|
APN |
8 |
125,318,508 (GRCm39) |
missense |
probably benign |
|
|
IGL01987:Capn9
|
APN |
8 |
125,302,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02150:Capn9
|
APN |
8 |
125,340,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02348:Capn9
|
APN |
8 |
125,321,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02720:Capn9
|
APN |
8 |
125,327,236 (GRCm39) |
splice site |
probably benign |
|
|
IGL02723:Capn9
|
APN |
8 |
125,335,922 (GRCm39) |
splice site |
probably benign |
|
|
IGL03065:Capn9
|
APN |
8 |
125,332,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Capn9
|
APN |
8 |
125,332,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
A2778:Capn9
|
UTSW |
8 |
125,332,217 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0288:Capn9
|
UTSW |
8 |
125,327,230 (GRCm39) |
splice site |
probably benign |
|
|
R1353:Capn9
|
UTSW |
8 |
125,332,305 (GRCm39) |
splice site |
probably null |
|
|
R1611:Capn9
|
UTSW |
8 |
125,338,251 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1672:Capn9
|
UTSW |
8 |
125,340,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1682:Capn9
|
UTSW |
8 |
125,338,304 (GRCm39) |
splice site |
probably null |
|
|
R1729:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1739:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1762:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1783:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1784:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1785:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1836:Capn9
|
UTSW |
8 |
125,332,304 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1883:Capn9
|
UTSW |
8 |
125,338,297 (GRCm39) |
missense |
probably benign |
|
|
R1924:Capn9
|
UTSW |
8 |
125,302,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2008:Capn9
|
UTSW |
8 |
125,318,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2069:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2131:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2141:Capn9
|
UTSW |
8 |
125,332,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2219:Capn9
|
UTSW |
8 |
125,335,898 (GRCm39) |
nonsense |
probably null |
|
|
R4193:Capn9
|
UTSW |
8 |
125,327,225 (GRCm39) |
missense |
probably null |
0.00 |
|
R4707:Capn9
|
UTSW |
8 |
125,340,195 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5092:Capn9
|
UTSW |
8 |
125,324,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Capn9
|
UTSW |
8 |
125,332,279 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5697:Capn9
|
UTSW |
8 |
125,315,810 (GRCm39) |
missense |
unknown |
|
|
R5734:Capn9
|
UTSW |
8 |
125,332,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Capn9
|
UTSW |
8 |
125,332,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Capn9
|
UTSW |
8 |
125,344,193 (GRCm39) |
missense |
probably benign |
|
|
R6787:Capn9
|
UTSW |
8 |
125,342,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6856:Capn9
|
UTSW |
8 |
125,324,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Capn9
|
UTSW |
8 |
125,303,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Capn9
|
UTSW |
8 |
125,332,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7975:Capn9
|
UTSW |
8 |
125,325,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Capn9
|
UTSW |
8 |
125,334,692 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9197:Capn9
|
UTSW |
8 |
125,340,600 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9366:Capn9
|
UTSW |
8 |
125,332,280 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9415:Capn9
|
UTSW |
8 |
125,332,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9472:Capn9
|
UTSW |
8 |
125,325,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF015:Capn9
|
UTSW |
8 |
125,345,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATAGCATAAGCCCCTGG -3'
(R):5'- AGAAGCCTCTGTCCTCCATG -3'
Sequencing Primer
(F):5'- GCTTTTGCCTCCTCCTGG -3'
(R):5'- TCTGTCCTCCATGCAGGGAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation