Incidental Mutation 'R4485:Capn8'
| ID |
331565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn8
|
| Ensembl Gene |
ENSMUSG00000038599 |
| Gene Name |
calpain 8 |
| Synonyms |
nCL-2', nCL-2 |
| MMRRC Submission |
041741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4485 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
182392572-182459917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 182426306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 214
(F214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048941]
[ENSMUST00000168514]
[ENSMUST00000192671]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048941
AA Change: F214L
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: F214L
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
352 |
5.02e-183 |
SMART |
|
calpain_III
|
355 |
512 |
5.34e-91 |
SMART |
|
EFh
|
579 |
607 |
3.12e0 |
SMART |
|
EFh
|
609 |
637 |
4.32e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168514
AA Change: F214L
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129549
Gene: ENSMUSG00000038599
AA Change: F214L
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
352 |
5.02e-183 |
SMART |
|
Pfam:Calpain_III
|
355 |
381 |
6.3e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192671
AA Change: F214L
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: F214L
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
352 |
2.2e-185 |
SMART |
|
calpain_III
|
355 |
512 |
1.4e-93 |
SMART |
|
EFh
|
579 |
607 |
1.5e-2 |
SMART |
|
EFh
|
609 |
637 |
2.1e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193260
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele or allele that produces a proteolytically inactive protein exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,968 (GRCm39) |
I190L |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,745,944 (GRCm39) |
|
probably benign |
Het |
| Apol7b |
C |
A |
15: 77,307,866 (GRCm39) |
V210L |
probably benign |
Het |
| Banf2 |
C |
T |
2: 143,915,772 (GRCm39) |
T71M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,004,590 (GRCm39) |
D130G |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,099,283 (GRCm39) |
L605S |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,520 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cpb1 |
T |
G |
3: 20,303,865 (GRCm39) |
M400L |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,153,531 (GRCm39) |
I52N |
possibly damaging |
Het |
| Gbp9 |
C |
G |
5: 105,231,674 (GRCm39) |
G304A |
probably damaging |
Het |
| Gm14226 |
G |
A |
2: 154,867,191 (GRCm39) |
V383I |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,864,051 (GRCm39) |
T126A |
probably benign |
Het |
| Npm2 |
A |
T |
14: 70,885,749 (GRCm39) |
V152D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,808 (GRCm39) |
V295D |
probably damaging |
Het |
| Or5b107 |
T |
C |
19: 13,142,855 (GRCm39) |
V159A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,919 (GRCm39) |
I195T |
probably benign |
Het |
| Or5p58 |
T |
C |
7: 107,694,222 (GRCm39) |
D185G |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,344 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Plat |
G |
A |
8: 23,262,228 (GRCm39) |
S84N |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,130 (GRCm39) |
D224G |
probably damaging |
Het |
| Psg25 |
C |
A |
7: 18,260,203 (GRCm39) |
V232F |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Pus7l |
G |
T |
15: 94,421,371 (GRCm39) |
H646Q |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,789,581 (GRCm39) |
S1511N |
probably damaging |
Het |
| Slc16a1 |
A |
G |
3: 104,562,794 (GRCm39) |
K413R |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,400,304 (GRCm39) |
M137K |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,248,570 (GRCm39) |
H1944L |
possibly damaging |
Het |
| Tmem145 |
A |
G |
7: 25,006,587 (GRCm39) |
E65G |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,678 (GRCm39) |
Y129* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,910,621 (GRCm39) |
H671R |
possibly damaging |
Het |
| Zfp219 |
A |
G |
14: 52,244,841 (GRCm39) |
V518A |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,542 (GRCm39) |
W206R |
possibly damaging |
Het |
|
| Other mutations in Capn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01880:Capn8
|
APN |
1 |
182,425,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Capn8
|
APN |
1 |
182,426,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Capn8
|
UTSW |
1 |
182,429,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Capn8
|
UTSW |
1 |
182,429,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Capn8
|
UTSW |
1 |
182,457,703 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1653:Capn8
|
UTSW |
1 |
182,451,516 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1679:Capn8
|
UTSW |
1 |
182,441,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Capn8
|
UTSW |
1 |
182,426,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:Capn8
|
UTSW |
1 |
182,426,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Capn8
|
UTSW |
1 |
182,438,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2045:Capn8
|
UTSW |
1 |
182,440,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2298:Capn8
|
UTSW |
1 |
182,440,985 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4331:Capn8
|
UTSW |
1 |
182,432,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Capn8
|
UTSW |
1 |
182,432,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5055:Capn8
|
UTSW |
1 |
182,399,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Capn8
|
UTSW |
1 |
182,424,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Capn8
|
UTSW |
1 |
182,456,169 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5497:Capn8
|
UTSW |
1 |
182,447,745 (GRCm39) |
missense |
probably benign |
|
|
R6307:Capn8
|
UTSW |
1 |
182,435,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6895:Capn8
|
UTSW |
1 |
182,456,234 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7216:Capn8
|
UTSW |
1 |
182,426,363 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7438:Capn8
|
UTSW |
1 |
182,426,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Capn8
|
UTSW |
1 |
182,392,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Capn8
|
UTSW |
1 |
182,392,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8334:Capn8
|
UTSW |
1 |
182,438,670 (GRCm39) |
splice site |
probably null |
|
|
R8837:Capn8
|
UTSW |
1 |
182,456,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9746:Capn8
|
UTSW |
1 |
182,438,670 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Capn8
|
UTSW |
1 |
182,440,911 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTTGGCCAGCGTCTTTC -3'
(R):5'- TGTGACCAACCCTAGTTCCCAC -3'
Sequencing Primer
(F):5'- GCCAGCGTCTTTCCCTGG -3'
(R):5'- GTTCCCACCCACTCACCAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation