Incidental Mutation 'R5613:Camk2g'
| ID |
438100 |
| 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 |
043274-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20784943-20844156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20787559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 423
(N423S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098398
(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: N457S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
AA Change: N457S
| 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 benign
Transcript: ENSMUST00000080440
AA Change: N446S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820
AA Change: N446S
| 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 damaging
Transcript: ENSMUST00000100837
AA Change: N423S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820
AA Change: N423S
| 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
AA Change: T63A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224887
AA Change: N235S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225328
AA Change: N50S
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226630
AA Change: N493S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225660
|
| Meta Mutation Damage Score |
0.0777 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
98% (59/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,465,346 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
C |
13: 70,878,253 (GRCm39) |
S1171A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,370,424 (GRCm39) |
T61A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,590,334 (GRCm39) |
D257G |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,997 (GRCm39) |
T583A |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,051,228 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Chd4 |
A |
C |
6: 125,097,509 (GRCm39) |
E1359D |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,566,196 (GRCm39) |
C264R |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,814,770 (GRCm39) |
D2171G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,799 (GRCm39) |
L138Q |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,424,360 (GRCm39) |
T380A |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,383,963 (GRCm39) |
I248N |
probably damaging |
Het |
| Dtx4 |
A |
T |
19: 12,462,767 (GRCm39) |
S337R |
probably damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,882 (GRCm39) |
S335P |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
| Eral1 |
G |
A |
11: 77,965,230 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
G |
T |
1: 14,373,153 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
T |
A |
9: 109,167,601 (GRCm39) |
Y52F |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,842,303 (GRCm39) |
|
probably benign |
Het |
| Gm5600 |
A |
G |
7: 113,307,293 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
A |
G |
7: 105,026,532 (GRCm39) |
Y100C |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,325,173 (GRCm39) |
L162P |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,015,239 (GRCm39) |
I1802T |
probably damaging |
Het |
| Klf7 |
G |
A |
1: 64,081,555 (GRCm39) |
R258C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,193,216 (GRCm39) |
N66D |
possibly damaging |
Het |
| Mypop |
G |
A |
7: 18,725,901 (GRCm39) |
|
probably benign |
Het |
| Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
| Nup153 |
A |
C |
13: 46,840,747 (GRCm39) |
S954A |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,528 (GRCm39) |
C73Y |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,388 (GRCm39) |
N281D |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 84,404,390 (GRCm39) |
A543T |
probably benign |
Het |
| Ppp1r11 |
C |
A |
17: 37,262,380 (GRCm39) |
G7W |
probably damaging |
Het |
| Prss52 |
A |
T |
14: 64,346,951 (GRCm39) |
N42Y |
possibly damaging |
Het |
| Ptger2 |
T |
G |
14: 45,226,960 (GRCm39) |
V180G |
possibly damaging |
Het |
| Rep15 |
G |
T |
6: 146,934,352 (GRCm39) |
V64F |
possibly damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,697,373 (GRCm39) |
Q76L |
probably benign |
Het |
| Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
| Slc16a12 |
T |
C |
19: 34,652,358 (GRCm39) |
M263V |
probably benign |
Het |
| Spdye4c |
A |
T |
2: 128,434,889 (GRCm39) |
Q95L |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,616,717 (GRCm39) |
D81N |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,431,978 (GRCm39) |
V731M |
possibly damaging |
Het |
| Susd6 |
G |
T |
12: 80,915,308 (GRCm39) |
G98C |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,759,122 (GRCm39) |
S638R |
possibly damaging |
Het |
| Tnfsf13 |
G |
T |
11: 69,574,821 (GRCm39) |
|
probably null |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,297 (GRCm39) |
N149S |
possibly damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,909,499 (GRCm39) |
K176E |
probably damaging |
Het |
| Trav10 |
A |
T |
14: 53,743,483 (GRCm39) |
H28L |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,079,389 (GRCm39) |
K155N |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,858,159 (GRCm39) |
D333G |
probably damaging |
Het |
| Tssk1 |
T |
C |
16: 17,712,364 (GRCm39) |
S50P |
probably benign |
Het |
| Ttll9 |
CAAA |
CAA |
2: 152,815,521 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,739,996 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,307 (GRCm39) |
I160L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,507,935 (GRCm39) |
D396V |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,596,585 (GRCm39) |
I647N |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,038,964 (GRCm39) |
Y433C |
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 |
|
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 |
|
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'- AGTGGACATTGAGCCACTTG -3'
(R):5'- TGGTTGCTAGACTTGTTACCCAC -3'
Sequencing Primer
(F):5'- GGACATTGAGCCACTTGCCATC -3'
(R):5'- CCTTTTGGATGAAACTAATGCAATGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation