Incidental Mutation 'BB007:Capn5'
ID |
642409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn5
|
Ensembl Gene |
ENSMUSG00000035547 |
Gene Name |
calpain 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
BB007
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
97770766-97827481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 97773085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 640
(V640I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040971]
[ENSMUST00000107112]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000138627]
|
AlphaFold |
O08688 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040971
AA Change: V640I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048183 Gene: ENSMUSG00000035547 AA Change: V640I
Domain | Start | End | E-Value | Type |
CysPc
|
8 |
351 |
4.18e-212 |
SMART |
calpain_III
|
353 |
496 |
1.21e-66 |
SMART |
C2
|
518 |
619 |
1.29e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107112
AA Change: V640I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102729 Gene: ENSMUSG00000035547 AA Change: V640I
Domain | Start | End | E-Value | Type |
CysPc
|
8 |
351 |
4.18e-212 |
SMART |
calpain_III
|
353 |
496 |
1.21e-66 |
SMART |
C2
|
518 |
619 |
1.29e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107127
|
SMART Domains |
Protein: ENSMUSP00000102744 Gene: ENSMUSG00000030761
Domain | Start | End | E-Value | Type |
MYSc
|
59 |
742 |
N/A |
SMART |
IQ
|
743 |
765 |
2.99e0 |
SMART |
IQ
|
766 |
788 |
8.77e-7 |
SMART |
IQ
|
812 |
834 |
8e0 |
SMART |
IQ
|
835 |
857 |
8.7e0 |
SMART |
low complexity region
|
865 |
900 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
MyTH4
|
1017 |
1253 |
1.4e-71 |
SMART |
B41
|
1254 |
1469 |
8.82e-42 |
SMART |
SH3
|
1568 |
1633 |
4.93e-7 |
SMART |
MyTH4
|
1709 |
1858 |
3.95e-57 |
SMART |
B41
|
1860 |
2077 |
8.27e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107128
|
SMART Domains |
Protein: ENSMUSP00000102745 Gene: ENSMUSG00000030761
Domain | Start | End | E-Value | Type |
MYSc
|
59 |
742 |
N/A |
SMART |
IQ
|
743 |
765 |
2.99e0 |
SMART |
IQ
|
766 |
788 |
8.77e-7 |
SMART |
IQ
|
812 |
834 |
8e0 |
SMART |
IQ
|
835 |
857 |
8.7e0 |
SMART |
low complexity region
|
865 |
900 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
MyTH4
|
1017 |
1253 |
1.4e-71 |
SMART |
B41
|
1254 |
1469 |
8.82e-42 |
SMART |
SH3
|
1606 |
1671 |
4.93e-7 |
SMART |
MyTH4
|
1747 |
1896 |
3.95e-57 |
SMART |
B41
|
1898 |
2115 |
8.27e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138627
|
SMART Domains |
Protein: ENSMUSP00000114944 Gene: ENSMUSG00000030761
Domain | Start | End | E-Value | Type |
Pfam:Myosin_head
|
67 |
139 |
7.1e-20 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the calpain family of proteins. Unlike many members of the calpain gene family, this gene lacks a calmodulin-like domain, required for calcium binding. Mouse models for Huntington's disease displayed increased levels of the protein encoded by this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
C |
T |
8: 41,250,107 (GRCm39) |
T739I |
probably benign |
Het |
Adam23 |
G |
T |
1: 63,624,586 (GRCm39) |
V805F |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,499,547 (GRCm39) |
R31S |
probably damaging |
Het |
Ano4 |
T |
A |
10: 89,163,138 (GRCm39) |
Y27F |
possibly damaging |
Het |
Bbs2 |
A |
G |
8: 94,796,625 (GRCm39) |
V675A |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,481,975 (GRCm39) |
E2839G |
probably damaging |
Het |
Casp4 |
C |
T |
9: 5,321,318 (GRCm39) |
T23M |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,028,920 (GRCm39) |
E379K |
possibly damaging |
Het |
Comp |
G |
A |
8: 70,826,503 (GRCm39) |
G26D |
probably damaging |
Het |
Cpxm1 |
G |
A |
2: 130,236,982 (GRCm39) |
A220V |
possibly damaging |
Het |
Cyp2c69 |
G |
T |
19: 39,831,434 (GRCm39) |
P460T |
possibly damaging |
Het |
Ddx23 |
T |
C |
15: 98,546,504 (GRCm39) |
D555G |
probably damaging |
Het |
E2f6 |
T |
A |
12: 16,869,058 (GRCm39) |
I127K |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,733,589 (GRCm39) |
D716E |
probably benign |
Het |
Esp16 |
T |
G |
17: 39,850,868 (GRCm39) |
S82R |
possibly damaging |
Het |
Fasn |
A |
C |
11: 120,700,061 (GRCm39) |
S2199A |
probably benign |
Het |
Fscb |
A |
G |
12: 64,519,337 (GRCm39) |
S710P |
unknown |
Het |
Gas7 |
A |
G |
11: 67,556,217 (GRCm39) |
I185M |
probably damaging |
Het |
Glg1 |
A |
T |
8: 111,887,367 (GRCm39) |
L1047I |
possibly damaging |
Het |
Golga5 |
A |
G |
12: 102,450,681 (GRCm39) |
N445D |
probably benign |
Het |
Grin2c |
A |
T |
11: 115,147,063 (GRCm39) |
H377Q |
probably benign |
Het |
Hmgcs1 |
T |
C |
13: 120,161,499 (GRCm39) |
I97T |
possibly damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,769 (GRCm39) |
T131A |
possibly damaging |
Het |
Ifngr1 |
A |
G |
10: 19,484,931 (GRCm39) |
K310R |
probably damaging |
Het |
Il18rap |
T |
C |
1: 40,587,803 (GRCm39) |
V467A |
probably damaging |
Het |
Itgad |
C |
A |
7: 127,782,280 (GRCm39) |
Q239K |
probably benign |
Het |
Jrkl |
T |
C |
9: 13,245,506 (GRCm39) |
I52V |
possibly damaging |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Krt75 |
C |
A |
15: 101,473,318 (GRCm39) |
*552L |
probably null |
Het |
Mbd2 |
A |
G |
18: 70,701,948 (GRCm39) |
D154G |
probably damaging |
Het |
Mutyh |
A |
T |
4: 116,674,153 (GRCm39) |
N235Y |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,864,825 (GRCm39) |
T1348A |
probably benign |
Het |
Ndufs7 |
T |
C |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
G |
6: 35,171,511 (GRCm39) |
M458R |
probably damaging |
Het |
Or1e32 |
A |
C |
11: 73,705,926 (GRCm39) |
|
probably benign |
Het |
Or1j4 |
G |
T |
2: 36,740,285 (GRCm39) |
V76F |
probably damaging |
Het |
Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,457,019 (GRCm39) |
P181L |
probably damaging |
Het |
Or6b2 |
T |
A |
1: 92,407,570 (GRCm39) |
M258L |
probably benign |
Het |
Or8b101 |
A |
G |
9: 38,020,264 (GRCm39) |
N89S |
possibly damaging |
Het |
Or8k25 |
T |
A |
2: 86,243,560 (GRCm39) |
T279S |
probably damaging |
Het |
Plcl2 |
T |
G |
17: 50,913,831 (GRCm39) |
I280S |
probably benign |
Het |
Ppargc1a |
A |
T |
5: 51,630,264 (GRCm39) |
Y618N |
unknown |
Het |
Rab43 |
A |
T |
6: 87,788,348 (GRCm39) |
I60N |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,596,726 (GRCm39) |
C231S |
probably damaging |
Het |
Rnf220 |
T |
A |
4: 117,164,787 (GRCm39) |
E238D |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,335,193 (GRCm39) |
D1265E |
probably damaging |
Het |
Sntb2 |
T |
A |
8: 107,728,269 (GRCm39) |
S406T |
probably damaging |
Het |
Sos1 |
T |
C |
17: 80,714,267 (GRCm39) |
I1068V |
probably benign |
Het |
Spart |
A |
G |
3: 55,035,697 (GRCm39) |
K519E |
probably damaging |
Het |
Tlx3 |
A |
T |
11: 33,153,058 (GRCm39) |
F134L |
probably damaging |
Het |
Trbj1-2 |
A |
T |
6: 41,510,964 (GRCm39) |
T10S |
|
Het |
Txk |
A |
C |
5: 72,892,536 (GRCm39) |
L33R |
probably damaging |
Het |
Ulk2 |
A |
G |
11: 61,682,258 (GRCm39) |
|
probably null |
Het |
Usp20 |
T |
C |
2: 30,900,556 (GRCm39) |
S357P |
probably benign |
Het |
Wac |
T |
A |
18: 7,921,560 (GRCm39) |
N565K |
possibly damaging |
Het |
Zfp1007 |
A |
T |
5: 109,823,622 (GRCm39) |
C609* |
probably null |
Het |
Zfp709 |
G |
T |
8: 72,644,684 (GRCm39) |
K704N |
probably damaging |
Het |
Zfp788 |
C |
T |
7: 41,299,049 (GRCm39) |
Q562* |
probably null |
Het |
|
Other mutations in Capn5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01019:Capn5
|
APN |
7 |
97,784,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01311:Capn5
|
APN |
7 |
97,811,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01768:Capn5
|
APN |
7 |
97,774,480 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01926:Capn5
|
APN |
7 |
97,777,679 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02076:Capn5
|
APN |
7 |
97,780,950 (GRCm39) |
nonsense |
probably null |
|
IGL02505:Capn5
|
APN |
7 |
97,780,403 (GRCm39) |
missense |
possibly damaging |
0.85 |
BB017:Capn5
|
UTSW |
7 |
97,773,085 (GRCm39) |
missense |
probably benign |
|
PIT4466001:Capn5
|
UTSW |
7 |
97,773,195 (GRCm39) |
missense |
probably benign |
0.00 |
R0178:Capn5
|
UTSW |
7 |
97,782,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R0518:Capn5
|
UTSW |
7 |
97,782,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R0521:Capn5
|
UTSW |
7 |
97,782,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R1459:Capn5
|
UTSW |
7 |
97,781,049 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2005:Capn5
|
UTSW |
7 |
97,778,570 (GRCm39) |
missense |
probably benign |
|
R2258:Capn5
|
UTSW |
7 |
97,785,082 (GRCm39) |
missense |
probably damaging |
0.99 |
R2327:Capn5
|
UTSW |
7 |
97,775,574 (GRCm39) |
missense |
probably benign |
0.07 |
R3797:Capn5
|
UTSW |
7 |
97,775,036 (GRCm39) |
missense |
probably null |
0.77 |
R4032:Capn5
|
UTSW |
7 |
97,778,453 (GRCm39) |
missense |
probably damaging |
0.96 |
R4620:Capn5
|
UTSW |
7 |
97,778,578 (GRCm39) |
missense |
probably damaging |
0.98 |
R4717:Capn5
|
UTSW |
7 |
97,773,126 (GRCm39) |
missense |
probably benign |
0.02 |
R4777:Capn5
|
UTSW |
7 |
97,780,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4823:Capn5
|
UTSW |
7 |
97,775,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Capn5
|
UTSW |
7 |
97,780,879 (GRCm39) |
splice site |
probably null |
|
R4965:Capn5
|
UTSW |
7 |
97,775,624 (GRCm39) |
missense |
probably damaging |
0.99 |
R5568:Capn5
|
UTSW |
7 |
97,775,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5732:Capn5
|
UTSW |
7 |
97,778,593 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5792:Capn5
|
UTSW |
7 |
97,780,402 (GRCm39) |
missense |
probably benign |
0.09 |
R6892:Capn5
|
UTSW |
7 |
97,785,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6923:Capn5
|
UTSW |
7 |
97,778,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7095:Capn5
|
UTSW |
7 |
97,775,038 (GRCm39) |
missense |
probably benign |
0.10 |
R7391:Capn5
|
UTSW |
7 |
97,780,426 (GRCm39) |
missense |
probably benign |
0.02 |
R7553:Capn5
|
UTSW |
7 |
97,773,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R7930:Capn5
|
UTSW |
7 |
97,773,085 (GRCm39) |
missense |
probably benign |
|
R8876:Capn5
|
UTSW |
7 |
97,780,902 (GRCm39) |
missense |
probably benign |
0.01 |
R8914:Capn5
|
UTSW |
7 |
97,784,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R9012:Capn5
|
UTSW |
7 |
97,814,050 (GRCm39) |
start gained |
probably benign |
|
R9087:Capn5
|
UTSW |
7 |
97,775,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATGGCCCCTTAACAGCAG -3'
(R):5'- GAATCACCGAGTCCTGAAGG -3'
Sequencing Primer
(F):5'- CCACAAGACGGGAATTCTTTG -3'
(R):5'- GGATGAATTCCTGGGCCAG -3'
|
Posted On |
2020-08-01 |