Incidental Mutation 'IGL01832:Prkaca'
ID |
154807 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prkaca
|
Ensembl Gene |
ENSMUSG00000005469 |
Gene Name |
protein kinase, cAMP dependent, catalytic, alpha |
Synonyms |
PKA, C alpha, Cs, Pkaca |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.781)
|
Stock # |
IGL01832
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84699622-84723072 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 84717366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 206
(K206N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005606]
[ENSMUST00000211558]
|
AlphaFold |
P05132 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005606
AA Change: K214N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000005606 Gene: ENSMUSG00000005469 AA Change: K214N
Domain | Start | End | E-Value | Type |
S_TKc
|
44 |
298 |
2e-107 |
SMART |
S_TK_X
|
299 |
344 |
3.7e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211558
AA Change: K206N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the serine/threonine protein kinase family. The holoenzyme, protein kinase A (also known as cyclic-AMP dependent protein kinase), mediates cellular response to changes in cyclic-AMP levels. This gene encodes the alpha catalytic subunit of protein kinase A. Protein kinase A-mediated signaling is transduced via phosphorylation of target proteins, and is important for many cellular functions, including mammalian sperm maturation and motility. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Apr 2013] PHENOTYPE: Homozygous mutant mice are highly susceptible to perinatal lethality. Surviving mice are runted and while spermatogenesis progresses normally, mature sperm shows impaired motility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,730,214 (GRCm39) |
N111K |
probably damaging |
Het |
Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
Cpa2 |
T |
C |
6: 30,551,998 (GRCm39) |
S242P |
probably benign |
Het |
Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
Ermard |
T |
C |
17: 15,280,111 (GRCm39) |
V87A |
probably damaging |
Het |
Fkbp8 |
A |
G |
8: 70,984,195 (GRCm39) |
H182R |
probably benign |
Het |
Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
Itga5 |
T |
A |
15: 103,264,376 (GRCm39) |
K298* |
probably null |
Het |
Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
Slc16a5 |
T |
C |
11: 115,355,827 (GRCm39) |
V96A |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
Wdr74 |
C |
T |
19: 8,717,302 (GRCm39) |
R299C |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
probably damaging |
Het |
|
Other mutations in Prkaca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02011:Prkaca
|
APN |
8 |
84,717,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03022:Prkaca
|
APN |
8 |
84,721,976 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL03038:Prkaca
|
APN |
8 |
84,721,580 (GRCm39) |
missense |
probably benign |
|
IGL03236:Prkaca
|
APN |
8 |
84,717,074 (GRCm39) |
missense |
probably damaging |
1.00 |
Undergraduate
|
UTSW |
8 |
84,713,524 (GRCm39) |
missense |
probably benign |
0.07 |
R0013:Prkaca
|
UTSW |
8 |
84,714,932 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0458:Prkaca
|
UTSW |
8 |
84,721,911 (GRCm39) |
splice site |
probably benign |
|
R1693:Prkaca
|
UTSW |
8 |
84,707,827 (GRCm39) |
missense |
probably benign |
|
R1827:Prkaca
|
UTSW |
8 |
84,717,616 (GRCm39) |
critical splice donor site |
probably null |
|
R1860:Prkaca
|
UTSW |
8 |
84,707,852 (GRCm39) |
missense |
probably benign |
0.11 |
R1955:Prkaca
|
UTSW |
8 |
84,714,946 (GRCm39) |
missense |
probably damaging |
0.97 |
R4084:Prkaca
|
UTSW |
8 |
84,721,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Prkaca
|
UTSW |
8 |
84,717,499 (GRCm39) |
missense |
probably benign |
0.05 |
R7867:Prkaca
|
UTSW |
8 |
84,721,963 (GRCm39) |
missense |
probably benign |
0.00 |
R7887:Prkaca
|
UTSW |
8 |
84,713,524 (GRCm39) |
missense |
probably benign |
0.07 |
R8313:Prkaca
|
UTSW |
8 |
84,717,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R8893:Prkaca
|
UTSW |
8 |
84,717,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R8902:Prkaca
|
UTSW |
8 |
84,703,714 (GRCm39) |
missense |
probably benign |
0.11 |
R9184:Prkaca
|
UTSW |
8 |
84,717,305 (GRCm39) |
missense |
probably benign |
0.01 |
R9642:Prkaca
|
UTSW |
8 |
84,717,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-02-04 |