Incidental Mutation 'IGL03236:Prkaca'
| ID |
414066 |
| 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 # |
IGL03236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84699622-84723072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84717074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 138
(F138Y)
|
| 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: F146Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469
AA Change: F146Y
| 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: F138Y
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,656,897 (GRCm39) |
I56N |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,115,887 (GRCm39) |
I181V |
probably benign |
Het |
| Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
| Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
| Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
| Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
| Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
| Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
| Mfn2 |
A |
G |
4: 147,966,562 (GRCm39) |
F543S |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,732,976 (GRCm39) |
Y87H |
probably benign |
Het |
| Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
| Ntm |
A |
G |
9: 29,020,802 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,204,505 (GRCm39) |
E282G |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,851,567 (GRCm39) |
|
probably benign |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly damaging |
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 |
|
IGL03038:Prkaca
|
APN |
8 |
84,721,580 (GRCm39) |
missense |
probably benign |
|
|
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 |
Incidental Mutation