Incidental Mutation 'IGL00517:Prkg1'
ID 3209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkg1
Ensembl Gene ENSMUSG00000052920
Gene Name protein kinase, cGMP-dependent, type I
Synonyms Prkgr1b, Prkg1b
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.440) question?
Stock # IGL00517
Quality Score
Status
Chromosome 19
Chromosomal Location 30541889-31742433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30872068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 242 (D242E)
Ref Sequence ENSEMBL: ENSMUSP00000073268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065067] [ENSMUST00000073581]
AlphaFold P0C605
Predicted Effect probably benign
Transcript: ENSMUST00000065067
AA Change: D227E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920
AA Change: D227E

DomainStartEndE-ValueType
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: D242E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920
AA Change: D242E

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 C T 7: 101,037,256 (GRCm39) R180W probably damaging Het
Atg4a T A X: 139,945,488 (GRCm39) M345K probably damaging Het
Cacna1s T C 1: 136,015,077 (GRCm39) V408A probably damaging Het
Ccdc141 C T 2: 76,884,988 (GRCm39) G551D probably damaging Het
Cdh2 A C 18: 16,760,693 (GRCm39) V558G possibly damaging Het
Col9a1 T A 1: 24,234,615 (GRCm39) probably benign Het
Fbxo15 T A 18: 84,977,225 (GRCm39) F46I probably damaging Het
Gdpd4 T C 7: 97,653,478 (GRCm39) I497T probably damaging Het
Gtf2f2 A G 14: 76,232,941 (GRCm39) V75A probably benign Het
Hpse T C 5: 100,839,196 (GRCm39) H384R possibly damaging Het
Lama2 T A 10: 27,073,326 (GRCm39) T1044S probably benign Het
Lamp2 T C X: 37,545,186 (GRCm39) probably benign Het
Lipe C A 7: 25,087,985 (GRCm39) probably null Het
Marf1 T C 16: 13,933,606 (GRCm39) E1594G possibly damaging Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Patj G T 4: 98,329,308 (GRCm39) V521F possibly damaging Het
Qsox2 T C 2: 26,112,267 (GRCm39) I92V probably benign Het
Rasgrf1 T C 9: 89,852,534 (GRCm39) Y367H probably damaging Het
Rpl21-ps4 T C 14: 11,227,544 (GRCm38) noncoding transcript Het
Sigirr T C 7: 140,672,147 (GRCm39) E266G probably benign Het
Slitrk6 T C 14: 110,988,547 (GRCm39) T387A probably benign Het
Smim22 T C 16: 4,825,860 (GRCm39) L54P probably damaging Het
Taf4 G A 2: 179,566,206 (GRCm39) probably benign Het
Trappc14 A G 5: 138,259,967 (GRCm39) V363A possibly damaging Het
Zswim3 T C 2: 164,663,011 (GRCm39) L497S probably damaging Het
Other mutations in Prkg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Prkg1 APN 19 31,279,740 (GRCm39) missense probably benign 0.02
IGL00481:Prkg1 APN 19 30,549,022 (GRCm39) missense probably benign 0.28
IGL00782:Prkg1 APN 19 30,556,153 (GRCm39) splice site probably benign
IGL01070:Prkg1 APN 19 30,546,743 (GRCm39) splice site probably benign
IGL01106:Prkg1 APN 19 30,562,678 (GRCm39) missense probably benign 0.05
IGL01783:Prkg1 APN 19 30,602,089 (GRCm39) missense probably damaging 1.00
IGL02135:Prkg1 APN 19 30,970,476 (GRCm39) missense probably benign 0.13
IGL02492:Prkg1 APN 19 30,701,602 (GRCm39) missense probably damaging 1.00
IGL02543:Prkg1 APN 19 30,602,134 (GRCm39) missense possibly damaging 0.62
IGL02733:Prkg1 APN 19 31,279,701 (GRCm39) missense probably damaging 1.00
IGL03129:Prkg1 APN 19 30,562,681 (GRCm39) nonsense probably null
IGL03220:Prkg1 APN 19 30,546,637 (GRCm39) utr 3 prime probably benign
R0363:Prkg1 UTSW 19 31,641,596 (GRCm39) missense probably damaging 1.00
R0693:Prkg1 UTSW 19 30,572,378 (GRCm39) missense probably benign
R1099:Prkg1 UTSW 19 30,549,012 (GRCm39) missense probably benign
R1464:Prkg1 UTSW 19 30,556,270 (GRCm39) missense probably damaging 0.99
R1464:Prkg1 UTSW 19 30,556,270 (GRCm39) missense probably damaging 0.99
R1556:Prkg1 UTSW 19 30,602,143 (GRCm39) missense probably benign
R1738:Prkg1 UTSW 19 30,764,322 (GRCm39) missense possibly damaging 0.48
R1974:Prkg1 UTSW 19 31,563,095 (GRCm39) missense probably damaging 1.00
R2011:Prkg1 UTSW 19 31,641,542 (GRCm39) missense possibly damaging 0.94
R2207:Prkg1 UTSW 19 30,556,260 (GRCm39) missense probably damaging 1.00
R2270:Prkg1 UTSW 19 30,556,031 (GRCm39) missense probably benign 0.27
R3009:Prkg1 UTSW 19 31,641,512 (GRCm39) missense possibly damaging 0.74
R4078:Prkg1 UTSW 19 31,562,978 (GRCm39) missense probably damaging 1.00
R4355:Prkg1 UTSW 19 30,546,629 (GRCm39) utr 3 prime probably benign
R4652:Prkg1 UTSW 19 30,572,412 (GRCm39) missense probably damaging 1.00
R4669:Prkg1 UTSW 19 31,641,639 (GRCm39) missense probably damaging 0.98
R4684:Prkg1 UTSW 19 31,641,579 (GRCm39) nonsense probably null
R4789:Prkg1 UTSW 19 31,563,045 (GRCm39) missense probably damaging 0.97
R4826:Prkg1 UTSW 19 31,742,006 (GRCm39) missense possibly damaging 0.93
R4936:Prkg1 UTSW 19 30,563,775 (GRCm39) missense probably benign 0.37
R5625:Prkg1 UTSW 19 31,742,162 (GRCm39) missense possibly damaging 0.95
R5819:Prkg1 UTSW 19 31,563,072 (GRCm39) missense probably benign 0.02
R5855:Prkg1 UTSW 19 30,872,094 (GRCm39) missense possibly damaging 0.93
R5882:Prkg1 UTSW 19 31,563,097 (GRCm39) missense probably damaging 1.00
R5965:Prkg1 UTSW 19 30,701,556 (GRCm39) splice site probably null
R5968:Prkg1 UTSW 19 30,570,324 (GRCm39) missense probably damaging 1.00
R6310:Prkg1 UTSW 19 30,546,651 (GRCm39) missense probably damaging 1.00
R6433:Prkg1 UTSW 19 30,758,746 (GRCm39) missense probably benign 0.21
R6702:Prkg1 UTSW 19 30,970,484 (GRCm39) missense probably benign 0.00
R6750:Prkg1 UTSW 19 31,741,961 (GRCm39) missense probably benign 0.41
R6894:Prkg1 UTSW 19 30,602,174 (GRCm39) nonsense probably null
R7155:Prkg1 UTSW 19 31,279,701 (GRCm39) missense probably damaging 1.00
R7165:Prkg1 UTSW 19 30,562,599 (GRCm39) missense probably damaging 1.00
R7238:Prkg1 UTSW 19 30,602,090 (GRCm39) missense probably damaging 1.00
R7428:Prkg1 UTSW 19 30,556,235 (GRCm39) missense probably damaging 1.00
R7748:Prkg1 UTSW 19 30,970,491 (GRCm39) missense possibly damaging 0.90
R7804:Prkg1 UTSW 19 30,602,170 (GRCm39) missense possibly damaging 0.92
R7804:Prkg1 UTSW 19 30,556,032 (GRCm39) missense probably benign 0.00
R7893:Prkg1 UTSW 19 30,563,767 (GRCm39) missense probably damaging 0.99
R8304:Prkg1 UTSW 19 30,701,584 (GRCm39) missense possibly damaging 0.75
R8497:Prkg1 UTSW 19 31,279,709 (GRCm39) missense probably damaging 1.00
R8676:Prkg1 UTSW 19 31,742,146 (GRCm39) missense probably damaging 0.98
R9318:Prkg1 UTSW 19 30,549,038 (GRCm39) missense probably benign 0.09
R9694:Prkg1 UTSW 19 30,764,371 (GRCm39) missense possibly damaging 0.84
X0011:Prkg1 UTSW 19 30,970,521 (GRCm39) missense probably damaging 1.00
Z1177:Prkg1 UTSW 19 31,279,773 (GRCm39) missense probably damaging 0.97
Posted On 2012-04-20