Incidental Mutation 'IGL00822:Camk2g'
| ID |
277995 |
| 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 # |
IGL00822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20784943-20844156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20787398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 500
(G500S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071816]
[ENSMUST00000080440]
[ENSMUST00000100837]
[ENSMUST00000223679]
[ENSMUST00000223863]
[ENSMUST00000224887]
[ENSMUST00000225328]
[ENSMUST00000226630]
[ENSMUST00000225609]
|
| AlphaFold |
Q923T9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071816
AA Change: G511S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
AA Change: G511S
| 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: G500S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820
AA Change: G500S
| 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 benign
Transcript: ENSMUST00000100837
AA Change: G477S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820
AA Change: G477S
| 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 |
probably benign
Transcript: ENSMUST00000223712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224887
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225328
AA Change: G104S
PolyPhen 2
Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226630
AA Change: G547S
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225660
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,988,792 (GRCm39) |
S332P |
probably benign |
Het |
| Abcb4 |
T |
C |
5: 9,000,046 (GRCm39) |
F1005L |
probably benign |
Het |
| Actr2 |
G |
A |
11: 20,044,367 (GRCm39) |
R80W |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,286 (GRCm39) |
I299T |
probably damaging |
Het |
| Car15 |
A |
T |
16: 17,654,498 (GRCm39) |
M146K |
probably damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,689,806 (GRCm39) |
N84S |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,165,773 (GRCm39) |
E1886* |
probably null |
Het |
| Kansl2 |
T |
C |
15: 98,426,734 (GRCm39) |
|
probably benign |
Het |
| Klc2 |
A |
T |
19: 5,161,541 (GRCm39) |
V323E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,891,111 (GRCm39) |
V352A |
probably damaging |
Het |
| Lrrc8c |
G |
T |
5: 105,756,174 (GRCm39) |
A650S |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,458,316 (GRCm39) |
Y299C |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,252,154 (GRCm39) |
T1421A |
probably damaging |
Het |
| Myl3 |
C |
A |
9: 110,595,557 (GRCm39) |
T56K |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,921,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,181,817 (GRCm39) |
L836M |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,945,304 (GRCm39) |
S2187N |
probably benign |
Het |
| Pank4 |
G |
A |
4: 155,065,059 (GRCm39) |
R786H |
possibly damaging |
Het |
| Sag |
A |
G |
1: 87,772,748 (GRCm39) |
|
probably null |
Het |
| Scn2b |
G |
A |
9: 45,036,842 (GRCm39) |
V117M |
probably damaging |
Het |
| Sec16b |
G |
T |
1: 157,392,125 (GRCm39) |
A886S |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spns3 |
A |
T |
11: 72,390,179 (GRCm39) |
|
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,625 (GRCm39) |
K350E |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,393,976 (GRCm39) |
T1291I |
probably damaging |
Het |
| Xntrpc |
A |
G |
7: 101,733,575 (GRCm39) |
I175V |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,344,641 (GRCm39) |
R1745C |
probably damaging |
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 |
|
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 |
|
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 |
Incidental Mutation