Incidental Mutation 'R4936:Prkg1'
ID 380422
Institutional Source Beutler Lab
Gene Symbol Prkg1
Ensembl Gene ENSMUSG00000052920
Gene Name protein kinase, cGMP-dependent, type I
Synonyms Prkgr1b, Prkg1b
MMRRC Submission 042536-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.440) question?
Stock # R4936 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 30541889-31742433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30563775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 479 (Y479C)
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: Y464C

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920
AA Change: Y464C

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: Y479C

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920
AA Change: Y479C

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
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.5%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,212 (GRCm39) F183L possibly damaging Het
4930590J08Rik T A 6: 91,921,245 (GRCm39) M775K probably damaging Het
Actn1 T G 12: 80,219,772 (GRCm39) I700L probably benign Het
Adam5 T C 8: 25,276,287 (GRCm39) Y460C probably damaging Het
Akna C T 4: 63,313,502 (GRCm39) G207E probably damaging Het
Ank2 T A 3: 126,748,688 (GRCm39) H527L possibly damaging Het
Anks1 C A 17: 28,207,779 (GRCm39) N383K probably damaging Het
Apba3 C T 10: 81,105,204 (GRCm39) probably null Het
Atp9b C A 18: 80,779,308 (GRCm39) V1121F possibly damaging Het
Bsn T C 9: 107,988,960 (GRCm39) Y2264C probably damaging Het
Bst1 A G 5: 43,997,799 (GRCm39) D266G probably damaging Het
Cep55 A G 19: 38,060,202 (GRCm39) probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Ckb T C 12: 111,637,664 (GRCm39) K156E probably benign Het
Cln3 T A 7: 126,174,393 (GRCm39) H315L probably damaging Het
Cnot6l A G 5: 96,227,796 (GRCm39) F479S probably damaging Het
Col1a1 A G 11: 94,837,958 (GRCm39) D826G unknown Het
Cyp27a1 T C 1: 74,774,564 (GRCm39) V194A probably benign Het
Dis3l2 C T 1: 86,971,890 (GRCm39) P643S probably benign Het
Dpf3 T C 12: 83,378,740 (GRCm39) D108G probably damaging Het
Eif2b4 C T 5: 31,350,241 (GRCm39) G27D probably benign Het
Eif4a1 T G 11: 69,563,251 (GRCm39) probably benign Het
Espl1 A T 15: 102,213,372 (GRCm39) D566V probably damaging Het
Ext2 T A 2: 93,644,024 (GRCm39) R86* probably null Het
Fasn A T 11: 120,706,911 (GRCm39) F914I probably damaging Het
Fbf1 A G 11: 116,043,378 (GRCm39) L477P probably benign Het
Fsd1 A T 17: 56,303,452 (GRCm39) K441N possibly damaging Het
Fsip2 T A 2: 82,815,384 (GRCm39) S3706T probably benign Het
Gabra5 A T 7: 57,058,547 (GRCm39) N400K probably benign Het
Gimap8 G T 6: 48,633,068 (GRCm39) G296W probably damaging Het
Gli2 A G 1: 118,763,870 (GRCm39) V1427A probably benign Het
Gm7334 A T 17: 51,005,855 (GRCm39) Y47F probably damaging Het
Gm8674 T G 13: 50,054,791 (GRCm39) noncoding transcript Het
Gmeb2 G T 2: 180,896,039 (GRCm39) T377K probably benign Het
Gp9 T A 6: 87,756,229 (GRCm39) D81E probably benign Het
Il5ra T A 6: 106,715,123 (GRCm39) I212F possibly damaging Het
Klhl18 G T 9: 110,258,029 (GRCm39) N470K possibly damaging Het
Lfng G T 5: 140,598,150 (GRCm39) probably null Het
Lpo A G 11: 87,701,166 (GRCm39) I430T probably benign Het
Lrrc31 C T 3: 30,743,417 (GRCm39) D183N probably damaging Het
Meis2 T C 2: 115,694,893 (GRCm39) T410A probably benign Het
Myo6 A G 9: 80,214,963 (GRCm39) D1232G probably damaging Het
Ncapd2 C T 6: 125,146,803 (GRCm39) R1261H probably benign Het
Nfkb1 C T 3: 135,319,743 (GRCm39) V251M probably damaging Het
Nmbr C A 10: 14,642,730 (GRCm39) H96Q probably damaging Het
Nop14 C T 5: 34,809,737 (GRCm39) R256H probably damaging Het
Nqo2 T A 13: 34,165,501 (GRCm39) Y133N probably damaging Het
Or1f12 T C 13: 21,721,357 (GRCm39) I273V probably benign Het
Or5w20 A G 2: 87,727,157 (GRCm39) I213V probably benign Het
Pbld2 C A 10: 62,888,017 (GRCm39) S168R probably damaging Het
Pcdhb7 G T 18: 37,475,202 (GRCm39) G113* probably null Het
Pcdhb7 G T 18: 37,475,203 (GRCm39) G113V probably damaging Het
Pdgfra A T 5: 75,355,687 (GRCm39) T1066S probably damaging Het
Prdm8 A T 5: 98,332,881 (GRCm39) probably null Het
Prdm8 G T 5: 98,332,882 (GRCm39) probably null Het
Pudp T C 18: 50,701,539 (GRCm39) T65A probably benign Het
Rbbp6 C T 7: 122,598,926 (GRCm39) probably benign Het
Rcc1 C G 4: 132,063,046 (GRCm39) V187L probably damaging Het
Rims2 T A 15: 39,301,124 (GRCm39) M285K probably damaging Het
Rtkn2 T C 10: 67,877,745 (GRCm39) *602Q probably null Het
Rxfp3 T G 15: 11,036,866 (GRCm39) S169R probably damaging Het
Sardh T C 2: 27,118,253 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,584 (GRCm39) F157I probably damaging Het
Slc25a20 T C 9: 108,559,191 (GRCm39) Y186H probably damaging Het
Slc25a24 A G 3: 109,070,864 (GRCm39) R408G probably damaging Het
Slc44a5 T G 3: 153,959,353 (GRCm39) I348S probably damaging Het
Slc8a2 A T 7: 15,868,100 (GRCm39) K111* probably null Het
Smc5 A G 19: 23,211,367 (GRCm39) V589A probably damaging Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
Thsd7b T C 1: 129,605,882 (GRCm39) M541T probably benign Het
Tie1 T A 4: 118,341,968 (GRCm39) silent Het
Tln1 A G 4: 43,547,522 (GRCm39) F813S possibly damaging Het
Tnrc18 A T 5: 142,751,732 (GRCm39) L1191* probably null Het
Tubb2a A C 13: 34,259,240 (GRCm39) Y183* probably null Het
Ubr4 T A 4: 139,123,877 (GRCm39) V343E probably damaging Het
Vmn2r93 A T 17: 18,524,327 (GRCm39) D107V possibly damaging Het
Vwa5a T G 9: 38,647,494 (GRCm39) S624R probably benign Het
Wwox G A 8: 115,433,098 (GRCm39) V255I probably benign Het
Wwp1 T C 4: 19,638,804 (GRCm39) K546E probably damaging Het
Xirp2 T A 2: 67,340,163 (GRCm39) F801L possibly damaging Het
Zfp407 T C 18: 84,577,589 (GRCm39) I1175V probably benign Het
Zfp646 T A 7: 127,480,933 (GRCm39) C1037S possibly damaging Het
Zfp786 A T 6: 47,798,202 (GRCm39) C245* probably null Het
Zfp827 T C 8: 79,787,812 (GRCm39) V326A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GGGGCTATTATTAATTCAAACCTCACC -3'
(R):5'- GAATTCTTTGGCTTGATCCTCAG -3'

Sequencing Primer
(F):5'- TCAAACCTCACCAATTTGATTTTTC -3'
(R):5'- GATCCTCAGATGCTTTTGAAAACC -3'
Posted On 2016-04-15