Incidental Mutation 'IGL01330:Prkacb'
| ID |
74458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkacb
|
| Ensembl Gene |
ENSMUSG00000005034 |
| Gene Name |
protein kinase, cAMP dependent, catalytic, beta |
| Synonyms |
Pkacb, cAMP-dependent protein kinase C beta |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.494)
|
| Stock # |
IGL01330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146435334-146518691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 146457266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 79
(N79T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101744
(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: N138T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: N138T
| 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: N91T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: N91T
| 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: N78T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: N78T
| 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: N79T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: N79T
| 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: N116T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034
AA Change: N116T
| 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: N33T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034
AA Change: N33T
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
1 |
106 |
1.5e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,898,351 (GRCm39) |
E245G |
possibly damaging |
Het |
| Acap2 |
T |
C |
16: 30,973,495 (GRCm39) |
I43V |
probably damaging |
Het |
| Acot11 |
T |
C |
4: 106,628,681 (GRCm39) |
T36A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,112 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
T |
C |
6: 17,654,170 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
G |
2: 79,199,125 (GRCm39) |
I155T |
possibly damaging |
Het |
| Dclre1b |
T |
C |
3: 103,710,442 (GRCm39) |
T490A |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,928,501 (GRCm39) |
S31L |
probably benign |
Het |
| Faim |
T |
A |
9: 98,874,588 (GRCm39) |
M67K |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,562,662 (GRCm39) |
Q615P |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,619,791 (GRCm39) |
V341A |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,986,375 (GRCm39) |
F142L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,404,112 (GRCm39) |
V532A |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,627,867 (GRCm39) |
L55* |
probably null |
Het |
| Kmt2e |
C |
A |
5: 23,702,946 (GRCm39) |
P1042Q |
possibly damaging |
Het |
| Mpped1 |
T |
A |
15: 83,684,320 (GRCm39) |
I114N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,089,460 (GRCm39) |
T148K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,419,803 (GRCm39) |
A8347V |
possibly damaging |
Het |
| Nhs |
A |
T |
X: 160,624,449 (GRCm39) |
S967T |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,095,602 (GRCm39) |
Y344C |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,629,349 (GRCm39) |
|
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,404 (GRCm39) |
V158A |
possibly damaging |
Het |
| Or8b12c |
T |
A |
9: 37,715,516 (GRCm39) |
F103Y |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,871,509 (GRCm39) |
Y303H |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,490,631 (GRCm39) |
I770F |
probably benign |
Het |
| Pde4a |
C |
T |
9: 21,103,734 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
A |
C |
8: 68,149,830 (GRCm39) |
Y1222D |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,810,538 (GRCm39) |
E847D |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,042 (GRCm39) |
D912E |
probably damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,895,053 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,786,372 (GRCm39) |
T577A |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,925,456 (GRCm39) |
V335D |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,916,925 (GRCm39) |
L1110* |
probably null |
Het |
| Slc4a11 |
A |
G |
2: 130,529,602 (GRCm39) |
I335T |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,743,783 (GRCm39) |
S461A |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,968,864 (GRCm39) |
P415S |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,204,459 (GRCm39) |
S217L |
possibly damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,525 (GRCm39) |
R45H |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,542 (GRCm39) |
S569P |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,871,390 (GRCm39) |
V3220E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,208,565 (GRCm39) |
N439S |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,721,702 (GRCm39) |
M215V |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,377,656 (GRCm39) |
V967E |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,956,483 (GRCm39) |
D255G |
possibly damaging |
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 |
|
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 |
|
R6940:Prkacb
|
UTSW |
3 |
146,457,254 (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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation