Incidental Mutation 'R3122:Capn7'
| ID |
264128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn7
|
| Ensembl Gene |
ENSMUSG00000021893 |
| Gene Name |
calpain 7 |
| Synonyms |
PalBH |
| MMRRC Submission |
040595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.848)
|
| Stock # |
R3122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31058595-31093943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31081167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 395
(I395F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022451]
[ENSMUST00000140002]
[ENSMUST00000143472]
[ENSMUST00000152182]
|
| AlphaFold |
Q9R1S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022451
AA Change: I395F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: I395F
| Domain | Start | End | E-Value | Type |
|---|
|
MIT
|
3 |
77 |
1.54e0 |
SMART |
|
MIT
|
83 |
160 |
1.07e-17 |
SMART |
|
CysPc
|
218 |
547 |
1.08e-91 |
SMART |
|
Blast:CysPc
|
550 |
620 |
4e-39 |
BLAST |
|
calpain_III
|
686 |
810 |
2.78e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140002
|
| SMART Domains |
Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BP5
|
42 |
272 |
2.3e-99 |
PFAM |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143472
AA Change: I395F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: I395F
| Domain | Start | End | E-Value | Type |
|---|
|
MIT
|
3 |
77 |
1.54e0 |
SMART |
|
MIT
|
83 |
160 |
1.07e-17 |
SMART |
|
CysPc
|
218 |
500 |
2.32e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152182
AA Change: I395F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: I395F
| Domain | Start | End | E-Value | Type |
|---|
|
MIT
|
3 |
77 |
1.54e0 |
SMART |
|
MIT
|
83 |
160 |
1.07e-17 |
SMART |
|
CysPc
|
218 |
500 |
2.32e-50 |
SMART |
|
| Meta Mutation Damage Score |
0.2647 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (48/48) |
| 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 function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene frequently die before weaning. Survivors display reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,118,248 (GRCm39) |
N8S |
possibly damaging |
Het |
| Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
| Ccbe1 |
A |
G |
18: 66,199,900 (GRCm39) |
M274T |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,456,749 (GRCm39) |
|
probably benign |
Het |
| Ccdc85a |
C |
A |
11: 28,533,499 (GRCm39) |
C15F |
unknown |
Het |
| Cpt1c |
A |
G |
7: 44,609,345 (GRCm39) |
Y715H |
probably damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,620 (GRCm39) |
F423L |
probably damaging |
Het |
| Dock3 |
C |
G |
9: 106,788,542 (GRCm39) |
A1598P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,644,170 (GRCm39) |
L37P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,045,562 (GRCm39) |
D758G |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,194 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,803,361 (GRCm39) |
M277K |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,000,265 (GRCm39) |
F329S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,918,072 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,899,425 (GRCm39) |
H375Q |
probably benign |
Het |
| Lox |
A |
G |
18: 52,658,177 (GRCm39) |
F332S |
probably damaging |
Het |
| Ltf |
G |
A |
9: 110,851,968 (GRCm39) |
C135Y |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,554 (GRCm39) |
Y347H |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,422,031 (GRCm39) |
Y387H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
C |
13: 100,545,503 (GRCm39) |
T1342A |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,453,031 (GRCm39) |
D10G |
probably benign |
Het |
| Nudt8 |
A |
G |
19: 4,052,015 (GRCm39) |
R209G |
possibly damaging |
Het |
| Or4c31 |
G |
T |
2: 88,291,853 (GRCm39) |
M75I |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,385 (GRCm39) |
V154A |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,954 (GRCm39) |
Y73N |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,213,049 (GRCm39) |
S131T |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,973,411 (GRCm39) |
I475V |
probably damaging |
Het |
| Pip |
T |
A |
6: 41,828,819 (GRCm39) |
N121K |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,384 (GRCm39) |
R222G |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,349,152 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,845 (GRCm39) |
V1745I |
possibly damaging |
Het |
| Tnfsf15 |
T |
A |
4: 63,652,522 (GRCm39) |
E96D |
probably benign |
Het |
| Vmn1r217 |
A |
G |
13: 23,298,249 (GRCm39) |
S218P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r71 |
T |
G |
7: 85,264,828 (GRCm39) |
Y53* |
probably null |
Het |
| Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,744 (GRCm39) |
D175G |
probably benign |
Het |
| Zscan2 |
G |
A |
7: 80,513,092 (GRCm39) |
A26T |
probably benign |
Het |
|
| Other mutations in Capn7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Capn7
|
APN |
14 |
31,085,535 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01481:Capn7
|
APN |
14 |
31,077,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03231:Capn7
|
APN |
14 |
31,077,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Capn7
|
UTSW |
14 |
31,076,069 (GRCm39) |
nonsense |
probably null |
|
|
R0018:Capn7
|
UTSW |
14 |
31,076,069 (GRCm39) |
nonsense |
probably null |
|
|
R0060:Capn7
|
UTSW |
14 |
31,087,561 (GRCm39) |
splice site |
probably benign |
|
|
R0060:Capn7
|
UTSW |
14 |
31,087,561 (GRCm39) |
splice site |
probably benign |
|
|
R0077:Capn7
|
UTSW |
14 |
31,090,072 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0195:Capn7
|
UTSW |
14 |
31,087,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Capn7
|
UTSW |
14 |
31,069,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0815:Capn7
|
UTSW |
14 |
31,091,714 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0863:Capn7
|
UTSW |
14 |
31,091,714 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1697:Capn7
|
UTSW |
14 |
31,082,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Capn7
|
UTSW |
14 |
31,082,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Capn7
|
UTSW |
14 |
31,071,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3121:Capn7
|
UTSW |
14 |
31,081,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Capn7
|
UTSW |
14 |
31,077,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Capn7
|
UTSW |
14 |
31,081,216 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4799:Capn7
|
UTSW |
14 |
31,082,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5023:Capn7
|
UTSW |
14 |
31,074,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5129:Capn7
|
UTSW |
14 |
31,066,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5460:Capn7
|
UTSW |
14 |
31,090,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5608:Capn7
|
UTSW |
14 |
31,092,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Capn7
|
UTSW |
14 |
31,091,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5786:Capn7
|
UTSW |
14 |
31,082,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Capn7
|
UTSW |
14 |
31,092,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Capn7
|
UTSW |
14 |
31,085,560 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6411:Capn7
|
UTSW |
14 |
31,062,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6514:Capn7
|
UTSW |
14 |
31,066,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6838:Capn7
|
UTSW |
14 |
31,076,130 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7041:Capn7
|
UTSW |
14 |
31,058,642 (GRCm39) |
unclassified |
probably benign |
|
|
R7047:Capn7
|
UTSW |
14 |
31,058,642 (GRCm39) |
unclassified |
probably benign |
|
|
R7124:Capn7
|
UTSW |
14 |
31,058,642 (GRCm39) |
unclassified |
probably benign |
|
|
R7224:Capn7
|
UTSW |
14 |
31,092,678 (GRCm39) |
nonsense |
probably null |
|
|
R7417:Capn7
|
UTSW |
14 |
31,092,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Capn7
|
UTSW |
14 |
31,071,779 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7544:Capn7
|
UTSW |
14 |
31,062,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Capn7
|
UTSW |
14 |
31,074,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7700:Capn7
|
UTSW |
14 |
31,074,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Capn7
|
UTSW |
14 |
31,074,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7824:Capn7
|
UTSW |
14 |
31,074,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Capn7
|
UTSW |
14 |
31,088,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8057:Capn7
|
UTSW |
14 |
31,092,936 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8176:Capn7
|
UTSW |
14 |
31,069,729 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8270:Capn7
|
UTSW |
14 |
31,080,636 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9103:Capn7
|
UTSW |
14 |
31,091,732 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9732:Capn7
|
UTSW |
14 |
31,090,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGGTCAAATGAGGAGTGG -3'
(R):5'- ACAGCCTTGCTTACTTCAAAAGG -3'
Sequencing Primer
(F):5'- TCAAATGAGGAGTGGGTATCATACTG -3'
(R):5'- CTTCAAAAGGAAGTCGGAAGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation