Incidental Mutation 'IGL03038:Prkaca'
ID |
408800 |
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 # |
IGL03038
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84699622-84723072 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84721580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 300
(Q300K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005606]
[ENSMUST00000095228]
[ENSMUST00000211558]
|
AlphaFold |
P05132 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005606
AA Change: Q308K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000005606 Gene: ENSMUSG00000005469 AA Change: Q308K
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 benign
Transcript: ENSMUST00000095228
|
SMART Domains |
Protein: ENSMUSP00000092853 Gene: ENSMUSG00000079003
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
low complexity region
|
100 |
230 |
N/A |
INTRINSIC |
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
low complexity region
|
278 |
301 |
N/A |
INTRINSIC |
low complexity region
|
302 |
323 |
N/A |
INTRINSIC |
low complexity region
|
402 |
423 |
N/A |
INTRINSIC |
SAM
|
440 |
506 |
2.91e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209606
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210523
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211558
AA Change: Q300K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
C |
7: 131,030,185 (GRCm39) |
Y111H |
probably damaging |
Het |
Arhgef6 |
C |
T |
X: 56,290,966 (GRCm39) |
V262I |
probably benign |
Het |
Arsk |
C |
A |
13: 76,213,632 (GRCm39) |
|
probably benign |
Het |
Ces1b |
T |
C |
8: 93,793,680 (GRCm39) |
E303G |
probably benign |
Het |
Chst9 |
T |
C |
18: 15,628,360 (GRCm39) |
Q55R |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,888,839 (GRCm39) |
D1153E |
possibly damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,063,602 (GRCm39) |
E681G |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,729,805 (GRCm39) |
E66G |
probably benign |
Het |
Flii |
T |
C |
11: 60,615,658 (GRCm39) |
T69A |
probably benign |
Het |
Foxl1 |
A |
C |
8: 121,855,158 (GRCm39) |
E153A |
probably damaging |
Het |
Gstm3 |
T |
C |
3: 107,873,485 (GRCm39) |
D162G |
possibly damaging |
Het |
Gtpbp3 |
G |
A |
8: 71,941,947 (GRCm39) |
V96I |
possibly damaging |
Het |
Insig2 |
G |
A |
1: 121,247,403 (GRCm39) |
T56I |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,926,314 (GRCm39) |
L264P |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,552,307 (GRCm39) |
C420G |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,305,808 (GRCm39) |
G2918S |
probably damaging |
Het |
Lrrc8b |
T |
C |
5: 105,629,358 (GRCm39) |
L568P |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Malrd1 |
G |
A |
2: 16,132,778 (GRCm39) |
D1900N |
unknown |
Het |
Mastl |
C |
A |
2: 23,030,627 (GRCm39) |
|
probably benign |
Het |
Med24 |
T |
G |
11: 98,607,010 (GRCm39) |
T276P |
possibly damaging |
Het |
Naip1 |
A |
C |
13: 100,573,841 (GRCm39) |
Y239* |
probably null |
Het |
Nhsl2 |
A |
G |
X: 101,122,491 (GRCm39) |
K765E |
probably damaging |
Het |
Npy |
A |
G |
6: 49,800,588 (GRCm39) |
N4S |
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,767,703 (GRCm39) |
D188G |
probably damaging |
Het |
Or6c88 |
A |
G |
10: 129,406,790 (GRCm39) |
T89A |
probably benign |
Het |
Pde1a |
C |
A |
2: 79,718,290 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
G |
A |
9: 98,947,650 (GRCm39) |
A509V |
probably damaging |
Het |
Pou2f2 |
C |
T |
7: 24,796,577 (GRCm39) |
S315N |
probably damaging |
Het |
Prdm2 |
A |
C |
4: 142,860,571 (GRCm39) |
S906R |
probably damaging |
Het |
Prox2 |
T |
C |
12: 85,142,038 (GRCm39) |
D55G |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,498,465 (GRCm39) |
T3612S |
possibly damaging |
Het |
S1pr1 |
T |
A |
3: 115,506,343 (GRCm39) |
I84L |
possibly damaging |
Het |
Slc47a1 |
C |
T |
11: 61,243,918 (GRCm39) |
V384M |
probably benign |
Het |
Slc6a20b |
T |
C |
9: 123,426,394 (GRCm39) |
N497S |
possibly damaging |
Het |
Spen |
C |
A |
4: 141,265,550 (GRCm39) |
R3L |
unknown |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,042,786 (GRCm39) |
F444S |
probably damaging |
Het |
Vwce |
T |
A |
19: 10,624,035 (GRCm39) |
Y309N |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,581,120 (GRCm39) |
L586P |
possibly damaging |
Het |
Wdr35 |
T |
C |
12: 9,024,185 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Prkaca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01832:Prkaca
|
APN |
8 |
84,717,366 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |