Incidental Mutation 'R6940:Prkacb'
ID |
540490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkacb
|
Ensembl Gene |
ENSMUSG00000005034 |
Gene Name |
protein kinase, cAMP dependent, catalytic, beta |
Synonyms |
Pkacb, cAMP-dependent protein kinase C beta |
MMRRC Submission |
045054-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.494)
|
Stock # |
R6940 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
146435334-146518691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 146457254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 37
(I37N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005164]
[ENSMUST00000102515]
[ENSMUST00000106137]
[ENSMUST00000106138]
[ENSMUST00000197616]
[ENSMUST00000199722]
|
AlphaFold |
P68181 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005164
AA Change: I142N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005164 Gene: ENSMUSG00000005034 AA Change: I142N
Domain | Start | End | E-Value | Type |
S_TKc
|
91 |
345 |
1.07e-105 |
SMART |
S_TK_X
|
346 |
398 |
2.47e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102515
AA Change: I95N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099573 Gene: ENSMUSG00000005034 AA Change: I95N
Domain | Start | End | E-Value | Type |
S_TKc
|
44 |
298 |
5.3e-108 |
SMART |
S_TK_X
|
299 |
344 |
2.1e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106137
AA Change: I82N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101743 Gene: ENSMUSG00000005034 AA Change: I82N
Domain | Start | End | E-Value | Type |
S_TKc
|
31 |
285 |
1.07e-105 |
SMART |
S_TK_X
|
286 |
338 |
2.47e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106138
AA Change: I83N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101744 Gene: ENSMUSG00000005034 AA Change: I83N
Domain | Start | End | E-Value | Type |
S_TKc
|
32 |
286 |
1.07e-105 |
SMART |
S_TK_X
|
287 |
339 |
2.47e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197616
AA Change: I120N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142490 Gene: ENSMUSG00000005034 AA Change: I120N
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
69 |
189 |
4.6e-27 |
PFAM |
Pfam:Pkinase_Tyr
|
69 |
189 |
1.1e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199722
AA Change: I37N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143303 Gene: ENSMUSG00000005034 AA Change: I37N
Domain | Start | End | E-Value | Type |
STYKc
|
1 |
106 |
1.5e-6 |
SMART |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
100% (49/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014] PHENOTYPE: Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
C |
A |
9: 54,516,381 (GRCm39) |
A667S |
probably benign |
Het |
Ank2 |
G |
A |
3: 126,735,621 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
A |
G |
13: 98,102,038 (GRCm39) |
L812P |
possibly damaging |
Het |
Armc5 |
C |
T |
7: 127,839,470 (GRCm39) |
R263* |
probably null |
Het |
Cadps2 |
A |
T |
6: 23,302,491 (GRCm39) |
V740E |
probably damaging |
Het |
Cckbr |
T |
C |
7: 105,084,103 (GRCm39) |
V279A |
probably benign |
Het |
Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
Cep350 |
A |
T |
1: 155,804,297 (GRCm39) |
S929T |
probably benign |
Het |
Chaf1b |
G |
A |
16: 93,702,853 (GRCm39) |
R556H |
probably benign |
Het |
Csn1s1 |
A |
T |
5: 87,822,882 (GRCm39) |
Q69L |
possibly damaging |
Het |
Dennd1b |
T |
C |
1: 138,981,155 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
C |
12: 118,162,503 (GRCm39) |
D22G |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,670,836 (GRCm39) |
H472R |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,158,428 (GRCm39) |
R337H |
probably benign |
Het |
Eif2ak3 |
T |
C |
6: 70,869,386 (GRCm39) |
V691A |
possibly damaging |
Het |
Ern2 |
T |
C |
7: 121,785,369 (GRCm39) |
R3G |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,828,096 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
T |
C |
2: 90,575,858 (GRCm39) |
F20L |
unknown |
Het |
Gtf2b |
C |
A |
3: 142,484,016 (GRCm39) |
D63E |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,217,243 (GRCm39) |
Y1377C |
probably damaging |
Het |
Klf1 |
A |
G |
8: 85,628,724 (GRCm39) |
T41A |
possibly damaging |
Het |
Lce3d |
G |
A |
3: 92,865,541 (GRCm39) |
S52N |
unknown |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,050,135 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
A |
C |
7: 27,008,369 (GRCm39) |
V1313G |
probably damaging |
Het |
Morc1 |
C |
A |
16: 48,300,208 (GRCm39) |
S235* |
probably null |
Het |
Mr1 |
T |
G |
1: 155,005,014 (GRCm39) |
*342S |
probably null |
Het |
Muc21 |
C |
A |
17: 35,934,118 (GRCm39) |
|
probably benign |
Het |
Nol4l |
T |
A |
2: 153,253,684 (GRCm39) |
S630C |
probably benign |
Het |
Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,620 (GRCm39) |
I206T |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,528,987 (GRCm39) |
V1807A |
probably damaging |
Het |
Pde5a |
T |
A |
3: 122,572,681 (GRCm39) |
V354E |
possibly damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,251,823 (GRCm39) |
E355D |
probably damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,084,875 (GRCm39) |
D112G |
probably damaging |
Het |
Prox2 |
T |
C |
12: 85,141,348 (GRCm39) |
D285G |
probably benign |
Het |
Ranbp3l |
A |
G |
15: 9,041,792 (GRCm39) |
S61G |
probably benign |
Het |
Rnf214 |
T |
A |
9: 45,802,196 (GRCm39) |
T289S |
probably damaging |
Het |
Rnf217 |
G |
T |
10: 31,381,973 (GRCm39) |
|
probably null |
Het |
Sc5d |
A |
T |
9: 42,166,723 (GRCm39) |
M272K |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,000,626 (GRCm39) |
T542A |
possibly damaging |
Het |
Sord |
T |
A |
2: 122,094,536 (GRCm39) |
I308N |
probably damaging |
Het |
Syvn1 |
A |
T |
19: 6,101,214 (GRCm39) |
|
probably benign |
Het |
Tas2r134 |
A |
G |
2: 51,518,148 (GRCm39) |
H209R |
probably benign |
Het |
Trak1 |
T |
C |
9: 121,272,784 (GRCm39) |
V214A |
possibly damaging |
Het |
Trpm5 |
C |
A |
7: 142,638,547 (GRCm39) |
E322* |
probably null |
Het |
Ttf2 |
T |
C |
3: 100,876,831 (GRCm39) |
T17A |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,316,343 (GRCm39) |
E492G |
probably benign |
Het |
Xndc1 |
T |
C |
7: 101,727,094 (GRCm39) |
V161A |
probably benign |
Het |
|
Other mutations in Prkacb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00925:Prkacb
|
APN |
3 |
146,453,797 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01330:Prkacb
|
APN |
3 |
146,457,266 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01419:Prkacb
|
APN |
3 |
146,461,448 (GRCm39) |
start codon destroyed |
probably null |
0.49 |
IGL02533:Prkacb
|
APN |
3 |
146,438,451 (GRCm39) |
missense |
possibly damaging |
0.64 |
foxhound
|
UTSW |
3 |
146,451,133 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4445001:Prkacb
|
UTSW |
3 |
146,461,446 (GRCm39) |
missense |
probably benign |
0.13 |
R0666:Prkacb
|
UTSW |
3 |
146,457,273 (GRCm39) |
missense |
probably damaging |
0.99 |
R2169:Prkacb
|
UTSW |
3 |
146,452,438 (GRCm39) |
splice site |
probably null |
|
R4559:Prkacb
|
UTSW |
3 |
146,451,147 (GRCm39) |
unclassified |
probably benign |
|
R4613:Prkacb
|
UTSW |
3 |
146,443,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4931:Prkacb
|
UTSW |
3 |
146,453,732 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6474:Prkacb
|
UTSW |
3 |
146,461,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Prkacb
|
UTSW |
3 |
146,438,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6654:Prkacb
|
UTSW |
3 |
146,456,298 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6864:Prkacb
|
UTSW |
3 |
146,451,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Prkacb
|
UTSW |
3 |
146,518,411 (GRCm39) |
missense |
probably benign |
0.00 |
R9015:Prkacb
|
UTSW |
3 |
146,456,239 (GRCm39) |
missense |
probably null |
0.98 |
R9049:Prkacb
|
UTSW |
3 |
146,461,518 (GRCm39) |
splice site |
probably benign |
|
R9520:Prkacb
|
UTSW |
3 |
146,456,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R9716:Prkacb
|
UTSW |
3 |
146,463,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTGTTTGCTCACGTCCAC -3'
(R):5'- ACTCTGCTAGGCTGCAAAC -3'
Sequencing Primer
(F):5'- CTCTCTAGTTTTATCATTTCACCAGG -3'
(R):5'- TGCTAGGCTGCAAACTTGAC -3'
|
Posted On |
2018-11-06 |