Incidental Mutation 'R6433:Prkg1'
| ID |
518671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkg1
|
| Ensembl Gene |
ENSMUSG00000052920 |
| Gene Name |
protein kinase, cGMP-dependent, type I |
| Synonyms |
Prkgr1b, Prkg1b |
| MMRRC Submission |
044571-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R6433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
30567551-31765033 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30781346 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 280
(F280S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065067]
[ENSMUST00000073581]
|
| AlphaFold |
P0C605 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065067
AA Change: F280S
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920
AA Change: F280S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
49 |
N/A |
INTRINSIC |
|
cNMP
|
103 |
216 |
6.37e-27 |
SMART |
|
cNMP
|
221 |
343 |
1.23e-33 |
SMART |
|
S_TKc
|
360 |
619 |
5.25e-91 |
SMART |
|
S_TK_X
|
620 |
671 |
1.55e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073581
AA Change: F295S
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920
AA Change: F295S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
62 |
N/A |
INTRINSIC |
|
cNMP
|
118 |
231 |
6.37e-27 |
SMART |
|
cNMP
|
236 |
358 |
1.23e-33 |
SMART |
|
S_TKc
|
375 |
634 |
5.25e-91 |
SMART |
|
S_TK_X
|
635 |
686 |
1.55e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182401
|
| Meta Mutation Damage Score |
0.1304 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mutant mice exhibit abnormal smooth muscle function and penile erectile deficiency. Conditional disruption in the hippocampus results in impaired LTP. Mice homozygous for a transposon induced allele exhibit postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 13,881,299 (GRCm38) |
D1016E |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 85,136,673 (GRCm38) |
Q14L |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,473,683 (GRCm38) |
L1147S |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 4,952,642 (GRCm38) |
T337A |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 131,023,027 (GRCm38) |
E1358G |
probably damaging |
Het |
| Caml |
C |
A |
13: 55,623,249 (GRCm38) |
S53R |
possibly damaging |
Het |
| Cd180 |
T |
G |
13: 102,705,633 (GRCm38) |
S396A |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,718,512 (GRCm38) |
T344A |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,570,269 (GRCm38) |
D224A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,484,974 (GRCm38) |
T544A |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,651,657 (GRCm38) |
K1528E |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,315,378 (GRCm38) |
K199N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,051,175 (GRCm38) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,674,568 (GRCm38) |
D239E |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,785,178 (GRCm38) |
V42A |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,189,187 (GRCm38) |
T432A |
possibly damaging |
Het |
| Fam98c |
A |
G |
7: 29,156,128 (GRCm38) |
|
probably null |
Het |
| Fbln2 |
G |
A |
6: 91,233,272 (GRCm38) |
G66D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 37,964,084 (GRCm38) |
T410I |
possibly damaging |
Het |
| Flcn |
T |
C |
11: 59,801,082 (GRCm38) |
D247G |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,575,903 (GRCm38) |
V127A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,243,886 (GRCm38) |
|
probably null |
Het |
| Has2 |
G |
A |
15: 56,667,798 (GRCm38) |
S507F |
possibly damaging |
Het |
| Ido2 |
T |
A |
8: 24,533,923 (GRCm38) |
M300L |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,658,041 (GRCm38) |
|
probably null |
Het |
| Klra9 |
G |
T |
6: 130,179,032 (GRCm38) |
Y253* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,950,457 (GRCm38) |
V299A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,560,355 (GRCm38) |
D210G |
probably damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,933,872 (GRCm38) |
M128K |
probably damaging |
Het |
| Obscn |
T |
A |
11: 59,051,558 (GRCm38) |
T5091S |
probably benign |
Het |
| Olfr137 |
A |
G |
17: 38,305,413 (GRCm38) |
L16P |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,413,613 (GRCm38) |
M91K |
possibly damaging |
Het |
| Phlpp2 |
G |
T |
8: 109,934,685 (GRCm38) |
A810S |
probably benign |
Het |
| Pla2g7 |
G |
C |
17: 43,599,126 (GRCm38) |
A174P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,215,678 (GRCm38) |
V783M |
probably damaging |
Het |
| Poll |
A |
T |
19: 45,553,604 (GRCm38) |
M421K |
probably benign |
Het |
| Ppfia2 |
C |
A |
10: 106,913,698 (GRCm38) |
S1148R |
possibly damaging |
Het |
| Rdh10 |
G |
A |
1: 16,107,855 (GRCm38) |
C117Y |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,595,196 (GRCm38) |
A70S |
unknown |
Het |
| Scgb2b3 |
A |
T |
7: 31,359,067 (GRCm38) |
L104I |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,706,597 (GRCm38) |
R749G |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,146,510 (GRCm38) |
K380R |
probably benign |
Het |
| Smtnl1 |
A |
C |
2: 84,818,368 (GRCm38) |
S181A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,717,185 (GRCm38) |
S716P |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,206,102 (GRCm38) |
|
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,901,567 (GRCm38) |
|
probably null |
Het |
| Timm22 |
T |
C |
11: 76,409,744 (GRCm38) |
V114A |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,247,220 (GRCm38) |
C163R |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,611,548 (GRCm38) |
N480K |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,084,754 (GRCm38) |
E735G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,901,305 (GRCm38) |
D692G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,751,714 (GRCm38) |
H22945R |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,547,380 (GRCm38) |
Y499* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,772,769 (GRCm38) |
H191Y |
probably benign |
Het |
|
| Other mutations in Prkg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Prkg1
|
APN |
19 |
31,302,340 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00481:Prkg1
|
APN |
19 |
30,571,622 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL00517:Prkg1
|
APN |
19 |
30,894,668 (GRCm38) |
missense |
probably benign |
|
|
IGL00782:Prkg1
|
APN |
19 |
30,578,753 (GRCm38) |
splice site |
probably benign |
|
|
IGL01070:Prkg1
|
APN |
19 |
30,569,343 (GRCm38) |
splice site |
probably benign |
|
|
IGL01106:Prkg1
|
APN |
19 |
30,585,278 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01783:Prkg1
|
APN |
19 |
30,624,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02135:Prkg1
|
APN |
19 |
30,993,076 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02492:Prkg1
|
APN |
19 |
30,724,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02543:Prkg1
|
APN |
19 |
30,624,734 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL02733:Prkg1
|
APN |
19 |
31,302,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03129:Prkg1
|
APN |
19 |
30,585,281 (GRCm38) |
nonsense |
probably null |
|
|
IGL03220:Prkg1
|
APN |
19 |
30,569,237 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0363:Prkg1
|
UTSW |
19 |
31,664,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0693:Prkg1
|
UTSW |
19 |
30,594,978 (GRCm38) |
missense |
probably benign |
|
|
R1099:Prkg1
|
UTSW |
19 |
30,571,612 (GRCm38) |
missense |
probably benign |
|
|
R1464:Prkg1
|
UTSW |
19 |
30,578,870 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1464:Prkg1
|
UTSW |
19 |
30,578,870 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1556:Prkg1
|
UTSW |
19 |
30,624,743 (GRCm38) |
missense |
probably benign |
|
|
R1738:Prkg1
|
UTSW |
19 |
30,786,922 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1974:Prkg1
|
UTSW |
19 |
31,585,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2011:Prkg1
|
UTSW |
19 |
31,664,142 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2207:Prkg1
|
UTSW |
19 |
30,578,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2270:Prkg1
|
UTSW |
19 |
30,578,631 (GRCm38) |
missense |
probably benign |
0.27 |
|
R3009:Prkg1
|
UTSW |
19 |
31,664,112 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4078:Prkg1
|
UTSW |
19 |
31,585,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4355:Prkg1
|
UTSW |
19 |
30,569,229 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4652:Prkg1
|
UTSW |
19 |
30,595,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4669:Prkg1
|
UTSW |
19 |
31,664,239 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4684:Prkg1
|
UTSW |
19 |
31,664,179 (GRCm38) |
nonsense |
probably null |
|
|
R4789:Prkg1
|
UTSW |
19 |
31,585,645 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4826:Prkg1
|
UTSW |
19 |
31,764,606 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4936:Prkg1
|
UTSW |
19 |
30,586,375 (GRCm38) |
missense |
probably benign |
0.37 |
|
R5625:Prkg1
|
UTSW |
19 |
31,764,762 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5819:Prkg1
|
UTSW |
19 |
31,585,672 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5855:Prkg1
|
UTSW |
19 |
30,894,694 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5882:Prkg1
|
UTSW |
19 |
31,585,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5965:Prkg1
|
UTSW |
19 |
30,724,156 (GRCm38) |
splice site |
probably null |
|
|
R5968:Prkg1
|
UTSW |
19 |
30,592,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6310:Prkg1
|
UTSW |
19 |
30,569,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6702:Prkg1
|
UTSW |
19 |
30,993,084 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6750:Prkg1
|
UTSW |
19 |
31,764,561 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6894:Prkg1
|
UTSW |
19 |
30,624,774 (GRCm38) |
nonsense |
probably null |
|
|
R7155:Prkg1
|
UTSW |
19 |
31,302,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7165:Prkg1
|
UTSW |
19 |
30,585,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7238:Prkg1
|
UTSW |
19 |
30,624,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7428:Prkg1
|
UTSW |
19 |
30,578,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7748:Prkg1
|
UTSW |
19 |
30,993,091 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7804:Prkg1
|
UTSW |
19 |
30,624,770 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7804:Prkg1
|
UTSW |
19 |
30,578,632 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7893:Prkg1
|
UTSW |
19 |
30,586,367 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8304:Prkg1
|
UTSW |
19 |
30,724,184 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8497:Prkg1
|
UTSW |
19 |
31,302,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8676:Prkg1
|
UTSW |
19 |
31,764,746 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9318:Prkg1
|
UTSW |
19 |
30,571,638 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9694:Prkg1
|
UTSW |
19 |
30,786,971 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
X0011:Prkg1
|
UTSW |
19 |
30,993,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Prkg1
|
UTSW |
19 |
31,302,373 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCATTGTATATAGTACCTGTGGTG -3'
(R):5'- GGGAAGCATAGAATTTGCAAGCATG -3'
Sequencing Primer
(F):5'- GGCGCCCACCATGATGATAATG -3'
(R):5'- AATATAGTTCCTCATGTGTGGTGACC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation