Incidental Mutation 'IGL01783:Prkg1'
ID 154181
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: 0.454) question?
Stock # IGL01783
Quality Score
Status
Chromosome 19
Chromosomal Location 30541889-31742433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30602089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 389 (V389A)
Ref Sequence ENSEMBL: ENSMUSP00000073268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065067] [ENSMUST00000073581]
AlphaFold P0C605
Predicted Effect probably damaging
Transcript: ENSMUST00000065067
AA Change: V374A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920
AA Change: V374A

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 damaging
Transcript: ENSMUST00000073581
AA Change: V389A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920
AA Change: V389A

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: ENSMUST00000182527
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,900 (GRCm39) Y166H possibly damaging Het
Abi3bp G A 16: 56,353,332 (GRCm39) probably null Het
Actrt3 T C 3: 30,652,624 (GRCm39) T157A probably benign Het
Adam26b T C 8: 43,974,798 (GRCm39) K68R probably benign Het
Adgrg7 A G 16: 56,568,282 (GRCm39) probably null Het
Ano6 T C 15: 95,860,143 (GRCm39) I755T possibly damaging Het
Basp1 T C 15: 25,364,953 (GRCm39) N15D unknown Het
Bod1l T C 5: 41,966,055 (GRCm39) N2670S probably benign Het
Btbd3 T A 2: 138,125,656 (GRCm39) I280N probably damaging Het
Cdh16 T A 8: 105,344,488 (GRCm39) Y17F probably damaging Het
Clmp G T 9: 40,693,703 (GRCm39) G307W possibly damaging Het
Clrn2 C A 5: 45,617,503 (GRCm39) Q125K probably benign Het
Ctnna3 C T 10: 63,656,248 (GRCm39) A276V possibly damaging Het
Dram2 A T 3: 106,480,972 (GRCm39) T172S possibly damaging Het
Dync2h1 G A 9: 7,118,822 (GRCm39) probably benign Het
Ezr T C 17: 7,009,888 (GRCm39) probably benign Het
Gbe1 T A 16: 70,275,257 (GRCm39) D352E probably damaging Het
Gbe1 T C 16: 70,198,743 (GRCm39) probably null Het
Gpr18 T A 14: 122,149,789 (GRCm39) M79L probably benign Het
Gss T C 2: 155,413,479 (GRCm39) Y196C probably damaging Het
Gtpbp1 T C 15: 79,600,398 (GRCm39) S444P probably damaging Het
Hecw1 C T 13: 14,452,878 (GRCm39) R712K probably damaging Het
Helz2 T G 2: 180,874,674 (GRCm39) D1940A probably damaging Het
Hmcn1 A T 1: 150,491,051 (GRCm39) V4166E possibly damaging Het
Klkb1 T C 8: 45,729,428 (GRCm39) Y297C probably damaging Het
Krt75 T A 15: 101,473,364 (GRCm39) I537F probably benign Het
Lrp1b T A 2: 41,202,584 (GRCm39) T1176S probably damaging Het
Nid2 T C 14: 19,818,745 (GRCm39) L413P probably benign Het
Or10ag57 T A 2: 87,218,187 (GRCm39) M46K possibly damaging Het
Or10ag57 G T 2: 87,218,182 (GRCm39) L44F probably benign Het
Or4c11 T C 2: 88,695,186 (GRCm39) L79P probably damaging Het
Or5t7 A G 2: 86,507,425 (GRCm39) V84A probably benign Het
Piwil1 A G 5: 128,820,890 (GRCm39) N272D probably benign Het
Ppfia3 T C 7: 45,009,481 (GRCm39) probably null Het
Sema3a C A 5: 13,611,767 (GRCm39) S344R probably damaging Het
Serpina3j T C 12: 104,284,750 (GRCm39) L309P probably damaging Het
Slc15a1 A G 14: 121,708,688 (GRCm39) probably null Het
Sp8 G T 12: 118,812,759 (GRCm39) A205S probably benign Het
Speer4a1 T A 5: 26,240,045 (GRCm39) Q235L possibly damaging Het
St6gal1 A G 16: 23,140,305 (GRCm39) T159A probably benign Het
Tbrg1 G T 9: 37,565,596 (GRCm39) P119T possibly damaging Het
Tmem59l T C 8: 70,939,874 (GRCm39) T32A probably damaging Het
Trmt13 G A 3: 116,376,561 (GRCm39) R277* probably null Het
Zfp316 A G 5: 143,248,631 (GRCm39) F205S unknown Het
Zfp418 G T 7: 7,184,448 (GRCm39) W137L possibly damaging Het
Zp3r A T 1: 130,526,603 (GRCm39) V200D possibly 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
IGL00517:Prkg1 APN 19 30,872,068 (GRCm39) missense probably benign
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
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 2014-02-04