Incidental Mutation 'IGL01070:Prkg1'
ID 53225
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 essential (E-score: 0.557) question?
Stock # IGL01070
Quality Score
Status
Chromosome 19
Chromosomal Location 30567551-31765033 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 30569343 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065067] [ENSMUST00000073581]
AlphaFold P0C605
Predicted Effect probably benign
Transcript: ENSMUST00000065067
SMART Domains Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920

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
SMART Domains Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183135
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 (GRCm38) V124I probably damaging Het
Adamts5 T C 16: 85,863,133 (GRCm38) H757R probably damaging Het
Aen G A 7: 78,907,302 (GRCm38) M299I probably damaging Het
Akap3 A T 6: 126,865,879 (GRCm38) E487V possibly damaging Het
Bicd2 T C 13: 49,378,316 (GRCm38) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm38) S162N probably damaging Het
Cma1 A G 14: 55,942,697 (GRCm38) S71P probably benign Het
Cspp1 T C 1: 10,088,145 (GRCm38) Y494H probably damaging Het
Cyp39a1 A G 17: 43,683,022 (GRCm38) K191R probably benign Het
Efr3a G A 15: 65,853,078 (GRCm38) V507I probably benign Het
Fam178b C T 1: 36,564,403 (GRCm38) R489Q possibly damaging Het
Kcnj4 A G 15: 79,484,579 (GRCm38) L400P probably benign Het
Kif27 A G 13: 58,344,093 (GRCm38) Y411H probably damaging Het
Mstn A T 1: 53,061,997 (GRCm38) I78L possibly damaging Het
Nrap T C 19: 56,329,084 (GRCm38) D1377G probably damaging Het
Pramel5 T G 4: 144,271,272 (GRCm38) Y467S probably damaging Het
Rbfox1 A C 16: 7,306,443 (GRCm38) S219R possibly damaging Het
Rfng T C 11: 120,783,952 (GRCm38) N71D probably damaging Het
Rp1 T C 1: 4,345,238 (GRCm38) I1884V probably damaging Het
Rptn T A 3: 93,398,176 (GRCm38) Y939N possibly damaging Het
Sart1 A G 19: 5,383,951 (GRCm38) V322A probably benign Het
Shank3 T C 15: 89,549,416 (GRCm38) S1455P probably damaging Het
Smc5 T A 19: 23,231,601 (GRCm38) R703W possibly damaging Het
Sptan1 G A 2: 30,014,173 (GRCm38) probably null Het
Tecta T C 9: 42,395,003 (GRCm38) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm38) M685K probably benign Het
Trac A G 14: 54,220,766 (GRCm38) T82A probably benign Het
Trank1 A G 9: 111,366,793 (GRCm38) N1295S probably damaging Het
Ttc36 T C 9: 44,801,590 (GRCm38) probably null Het
Utp18 A T 11: 93,869,848 (GRCm38) S384T possibly damaging Het
Vmn1r64 C A 7: 5,883,942 (GRCm38) A201S probably benign Het
Vmn2r26 A T 6: 124,061,607 (GRCm38) I714F probably benign Het
Vps54 T A 11: 21,312,268 (GRCm38) V626D probably damaging Het
Wapl T C 14: 34,745,622 (GRCm38) probably benign Het
Yars2 C T 16: 16,306,542 (GRCm38) R338* probably null Het
Other mutations in Prkg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6433:Prkg1 UTSW 19 30,781,346 (GRCm38) missense probably benign 0.21
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
Posted On 2013-06-21