Incidental Mutation 'R2380:Camk2g'
ID |
248444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk2g
|
Ensembl Gene |
ENSMUSG00000021820 |
Gene Name |
calcium/calmodulin-dependent protein kinase II gamma |
Synonyms |
Ca2+/calmodulin-dependent protein kinase II, 5930429P18Rik, CaMK II, Camkg |
MMRRC Submission |
040356-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20784943-20844156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20789455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 205
(I205T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071816]
[ENSMUST00000080440]
[ENSMUST00000100837]
[ENSMUST00000223679]
[ENSMUST00000223863]
[ENSMUST00000224887]
[ENSMUST00000225609]
[ENSMUST00000225328]
[ENSMUST00000226630]
|
AlphaFold |
Q923T9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071816
AA Change: I401T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071720 Gene: ENSMUSG00000021820 AA Change: I401T
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
6.15e-106 |
SMART |
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
Pfam:CaMKII_AD
|
397 |
524 |
2.7e-62 |
PFAM |
Pfam:DUF4440
|
401 |
514 |
3.9e-12 |
PFAM |
Pfam:SnoaL_3
|
401 |
526 |
4.6e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080440
AA Change: I390T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000079298 Gene: ENSMUSG00000021820 AA Change: I390T
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
6.15e-106 |
SMART |
Pfam:CaMKII_AD
|
386 |
513 |
3.7e-63 |
PFAM |
Pfam:DUF4440
|
390 |
504 |
3.2e-14 |
PFAM |
Pfam:SnoaL_3
|
390 |
515 |
4.1e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100837
AA Change: I367T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000098398 Gene: ENSMUSG00000021820 AA Change: I367T
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
6.15e-106 |
SMART |
Pfam:CaMKII_AD
|
363 |
490 |
3.8e-63 |
PFAM |
Pfam:DUF4440
|
367 |
481 |
3.6e-14 |
PFAM |
Pfam:SnoaL_3
|
367 |
492 |
4.7e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223679
|
Predicted Effect |
unknown
Transcript: ENSMUST00000223712
AA Change: I210T
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223863
AA Change: I4T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224887
AA Change: I179T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225609
AA Change: I205T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225660
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225463
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225328
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226630
AA Change: I437T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.5663 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (44/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit female infertility and decreased sensitivity of macrophages to ER stress-induced apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
Other mutations in Camk2g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00819:Camk2g
|
APN |
14 |
20,787,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00822:Camk2g
|
APN |
14 |
20,787,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00932:Camk2g
|
APN |
14 |
20,787,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00934:Camk2g
|
APN |
14 |
20,787,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00935:Camk2g
|
APN |
14 |
20,787,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00938:Camk2g
|
APN |
14 |
20,787,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01151:Camk2g
|
APN |
14 |
20,816,027 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01578:Camk2g
|
APN |
14 |
20,797,922 (GRCm39) |
splice site |
probably benign |
|
IGL02749:Camk2g
|
APN |
14 |
20,816,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
changchun
|
UTSW |
14 |
20,792,776 (GRCm39) |
nonsense |
probably null |
|
Jilin
|
UTSW |
14 |
20,816,280 (GRCm39) |
nonsense |
probably null |
|
jingyuetan
|
UTSW |
14 |
20,843,999 (GRCm39) |
missense |
possibly damaging |
0.57 |
Manchuria
|
UTSW |
14 |
20,815,017 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Camk2g
|
UTSW |
14 |
20,789,380 (GRCm39) |
splice site |
probably benign |
|
R0047:Camk2g
|
UTSW |
14 |
20,821,136 (GRCm39) |
splice site |
probably benign |
|
R0761:Camk2g
|
UTSW |
14 |
20,816,280 (GRCm39) |
nonsense |
probably null |
|
R0783:Camk2g
|
UTSW |
14 |
20,794,704 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2239:Camk2g
|
UTSW |
14 |
20,789,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R2240:Camk2g
|
UTSW |
14 |
20,815,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R3623:Camk2g
|
UTSW |
14 |
20,805,775 (GRCm39) |
splice site |
probably benign |
|
R3842:Camk2g
|
UTSW |
14 |
20,814,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R4909:Camk2g
|
UTSW |
14 |
20,842,652 (GRCm39) |
missense |
probably benign |
0.29 |
R5329:Camk2g
|
UTSW |
14 |
20,843,999 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5613:Camk2g
|
UTSW |
14 |
20,787,559 (GRCm39) |
missense |
probably damaging |
0.98 |
R5763:Camk2g
|
UTSW |
14 |
20,789,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R6294:Camk2g
|
UTSW |
14 |
20,815,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R6345:Camk2g
|
UTSW |
14 |
20,787,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R6698:Camk2g
|
UTSW |
14 |
20,792,776 (GRCm39) |
nonsense |
probably null |
|
R7010:Camk2g
|
UTSW |
14 |
20,791,512 (GRCm39) |
missense |
probably benign |
|
R7187:Camk2g
|
UTSW |
14 |
20,792,780 (GRCm39) |
missense |
probably benign |
|
R7257:Camk2g
|
UTSW |
14 |
20,797,907 (GRCm39) |
missense |
probably benign |
0.01 |
R7459:Camk2g
|
UTSW |
14 |
20,829,275 (GRCm39) |
missense |
probably damaging |
0.97 |
R7655:Camk2g
|
UTSW |
14 |
20,789,410 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7656:Camk2g
|
UTSW |
14 |
20,789,410 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8863:Camk2g
|
UTSW |
14 |
20,810,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R9764:Camk2g
|
UTSW |
14 |
20,815,498 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Camk2g
|
UTSW |
14 |
20,814,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGGTTTGATTCAGGCAGG -3'
(R):5'- GGAGGCAGTCCTTAACTCTTCAG -3'
Sequencing Primer
(F):5'- GGATTAAGGTCCAGACTACACTTGC -3'
(R):5'- CTTAACTCTTCAGATGCCAAAGAGGG -3'
|
Posted On |
2014-11-11 |