Incidental Mutation 'IGL02749:Camk2g'
ID |
306227 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02749
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20784943-20844156 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 20816084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071816]
[ENSMUST00000071816]
[ENSMUST00000080440]
[ENSMUST00000080440]
[ENSMUST00000100837]
[ENSMUST00000100837]
[ENSMUST00000226630]
[ENSMUST00000225609]
[ENSMUST00000224887]
|
AlphaFold |
Q923T9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071816
|
SMART Domains |
Protein: ENSMUSP00000071720 Gene: ENSMUSG00000021820
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 null
Transcript: ENSMUST00000071816
|
SMART Domains |
Protein: ENSMUSP00000071720 Gene: ENSMUSG00000021820
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 null
Transcript: ENSMUST00000080440
|
SMART Domains |
Protein: ENSMUSP00000079298 Gene: ENSMUSG00000021820
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 |
probably null
Transcript: ENSMUST00000080440
|
SMART Domains |
Protein: ENSMUSP00000079298 Gene: ENSMUSG00000021820
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 |
probably null
Transcript: ENSMUST00000100837
|
SMART Domains |
Protein: ENSMUSP00000098398 Gene: ENSMUSG00000021820
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 null
Transcript: ENSMUST00000100837
|
SMART Domains |
Protein: ENSMUSP00000098398 Gene: ENSMUSG00000021820
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: ENSMUST00000223712
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224245
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224804
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225800
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225958
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226630
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225609
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224887
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225463
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230104M06Rik |
T |
C |
12: 112,963,795 (GRCm39) |
D61G |
probably benign |
Het |
Albfm1 |
T |
C |
5: 90,719,624 (GRCm39) |
V240A |
possibly damaging |
Het |
Ascc2 |
G |
A |
11: 4,590,481 (GRCm39) |
|
probably null |
Het |
Atrn |
C |
T |
2: 130,812,064 (GRCm39) |
Q670* |
probably null |
Het |
Atrn |
G |
T |
2: 130,789,654 (GRCm39) |
|
probably benign |
Het |
Calr |
A |
C |
8: 85,571,117 (GRCm39) |
W236G |
probably damaging |
Het |
Cd101 |
G |
T |
3: 100,927,715 (GRCm39) |
T122K |
probably damaging |
Het |
Cert1 |
T |
A |
13: 96,765,643 (GRCm39) |
N469K |
possibly damaging |
Het |
Cryl1 |
T |
C |
14: 57,541,181 (GRCm39) |
T168A |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,156,261 (GRCm39) |
I684T |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,060,495 (GRCm39) |
M266K |
possibly damaging |
Het |
Eif4h |
T |
C |
5: 134,668,146 (GRCm39) |
D3G |
probably damaging |
Het |
Eny2 |
C |
T |
15: 44,293,031 (GRCm39) |
R28C |
possibly damaging |
Het |
Epsti1 |
A |
G |
14: 78,177,363 (GRCm39) |
E181G |
probably damaging |
Het |
Ezh2 |
A |
G |
6: 47,510,698 (GRCm39) |
F598S |
probably damaging |
Het |
Fat3 |
G |
T |
9: 15,918,007 (GRCm39) |
T1472K |
possibly damaging |
Het |
Gabra4 |
T |
A |
5: 71,795,490 (GRCm39) |
I262F |
probably benign |
Het |
Gpat4 |
A |
T |
8: 23,670,886 (GRCm39) |
Y109N |
probably damaging |
Het |
Gpsm1 |
C |
T |
2: 26,229,687 (GRCm39) |
T36I |
probably damaging |
Het |
Hikeshi |
C |
T |
7: 89,585,097 (GRCm39) |
V36I |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,473,605 (GRCm39) |
M238V |
probably benign |
Het |
Hnrnpll |
A |
T |
17: 80,369,420 (GRCm39) |
M1K |
probably null |
Het |
Irx2 |
G |
A |
13: 72,779,429 (GRCm39) |
D238N |
probably damaging |
Het |
Kcnip4 |
T |
A |
5: 48,567,127 (GRCm39) |
|
probably benign |
Het |
Lair1 |
G |
A |
7: 4,031,900 (GRCm39) |
T69I |
possibly damaging |
Het |
Lamc1 |
A |
G |
1: 153,125,599 (GRCm39) |
I558T |
possibly damaging |
Het |
Map4k5 |
C |
T |
12: 69,862,580 (GRCm39) |
E639K |
probably benign |
Het |
Mc4r |
A |
G |
18: 66,992,733 (GRCm39) |
S127P |
probably damaging |
Het |
Mmp23 |
A |
G |
4: 155,735,989 (GRCm39) |
M221T |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,737,887 (GRCm39) |
S587P |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
Nek9 |
C |
A |
12: 85,352,281 (GRCm39) |
A861S |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,163,560 (GRCm39) |
Y576N |
probably damaging |
Het |
Or5w10 |
C |
T |
2: 87,375,001 (GRCm39) |
V296M |
probably damaging |
Het |
Pcca |
A |
T |
14: 122,771,800 (GRCm39) |
T8S |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,466,900 (GRCm39) |
D1573G |
probably benign |
Het |
Pdpr |
T |
A |
8: 111,844,722 (GRCm39) |
V373E |
probably benign |
Het |
Pdzph1 |
A |
T |
17: 59,239,478 (GRCm39) |
L950Q |
possibly damaging |
Het |
Pira13 |
A |
G |
7: 3,825,624 (GRCm39) |
I415T |
probably damaging |
Het |
Prss35 |
A |
C |
9: 86,638,297 (GRCm39) |
K356Q |
probably damaging |
Het |
Psg22 |
A |
T |
7: 18,456,944 (GRCm39) |
T237S |
possibly damaging |
Het |
Rdh13 |
A |
G |
7: 4,430,703 (GRCm39) |
Y252H |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,613,112 (GRCm39) |
|
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,493 (GRCm39) |
V207I |
probably benign |
Het |
Sparcl1 |
T |
G |
5: 104,240,746 (GRCm39) |
E226A |
possibly damaging |
Het |
Srms |
C |
A |
2: 180,851,302 (GRCm39) |
A155S |
possibly damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,917 (GRCm39) |
I44N |
probably damaging |
Het |
Tmem236 |
C |
T |
2: 14,224,132 (GRCm39) |
T307M |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,679,155 (GRCm39) |
P4788S |
probably damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,716 (GRCm39) |
L39F |
probably benign |
Het |
Vmn2r90 |
T |
A |
17: 17,947,122 (GRCm39) |
*121R |
probably null |
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 |
|
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 |
R2380:Camk2g
|
UTSW |
14 |
20,789,455 (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 |
|
Posted On |
2015-04-16 |