Incidental Mutation 'R6698:Camk2g'
| ID |
528661 |
| 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 |
044816-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6698 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20784943-20844156 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 20792776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 393
(K393*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071816]
[ENSMUST00000080440]
[ENSMUST00000100837]
[ENSMUST00000223863]
[ENSMUST00000224887]
[ENSMUST00000225328]
[ENSMUST00000225609]
[ENSMUST00000226630]
|
| AlphaFold |
Q923T9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071816
AA Change: K395*
|
| SMART Domains |
Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
AA Change: K395*
| 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
AA Change: K384*
|
| SMART Domains |
Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820
AA Change: K384*
| 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
AA Change: K361*
|
| SMART Domains |
Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820
AA Change: K361*
| 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: ENSMUST00000223712
AA Change: K166*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223863
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224887
AA Change: K173*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225328
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225463
AA Change: K146*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225609
AA Change: K199*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226630
AA Change: K393*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225660
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
| Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
| Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
| Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
| Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
| Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
| Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
| Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
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 |
|
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 |
|
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'- GAATCTCCTAGCTCAGTGCATG -3'
(R):5'- GCATGAATGACCAGGCAATG -3'
Sequencing Primer
(F):5'- TCCTAGCTCAGTGCATGGAGAG -3'
(R):5'- GCCTTTTCCTGATAGAAAGCCTAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation