Mutagenetix > Incidental Mutation

Incidental Mutation 'R4669:Prkg1'

352321

Institutional Source

Beutler Lab

Gene Symbol

Prkg1

Ensembl Gene

ENSMUSG00000052920

Gene Name

protein kinase, cGMP-dependent, type I

Synonyms

Prkgr1b, Prkg1b

MMRRC Submission

041925-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30541889-31742433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31641639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 15 (I15F)

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

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 damaging
Transcript: ENSMUST00000073581
AA Change: I15F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920
AA Change: I15F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Acan	A	G	7: 78,750,890 (GRCm39)	E464G	probably benign	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,552,343 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,129,307 (GRCm39)	D217G	probably benign	Het
Arl2	C	A	19: 6,184,716 (GRCm39)	R179L	probably damaging	Het
Atg2a	T	A	19: 6,309,017 (GRCm39)		probably null	Het
B3gat1	T	A	9: 26,663,052 (GRCm39)	L6Q	probably benign	Het
Bcl10	A	G	3: 145,636,327 (GRCm39)	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Brms1l	A	G	12: 55,888,356 (GRCm39)	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,226,322 (GRCm39)	N414K	possibly damaging	Het
Capn2	C	T	1: 182,298,345 (GRCm39)	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,157,021 (GRCm39)	R99M	probably damaging	Het
Ccdc51	A	G	9: 108,920,030 (GRCm39)	N142S	probably benign	Het
Cdipt	A	G	7: 126,577,578 (GRCm39)	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cts3	C	T	13: 61,714,637 (GRCm39)	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,637,280 (GRCm39)	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,632,098 (GRCm39)	H90L	probably benign	Het
Ddx4	T	C	13: 112,758,778 (GRCm39)	Y261C	probably damaging	Het
Dnah17	T	C	11: 117,965,119 (GRCm39)	T2308A	probably benign	Het
Dnah6	T	C	6: 73,014,671 (GRCm39)	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,343,664 (GRCm39)	V494I	possibly damaging	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,752,717 (GRCm39)	I78V	probably benign	Het
Esam	T	A	9: 37,447,952 (GRCm39)	Y195*	probably null	Het
Extl3	T	A	14: 65,313,745 (GRCm39)	N479I	possibly damaging	Het
Fat2	A	G	11: 55,202,441 (GRCm39)	V211A	probably benign	Het
Ganc	G	T	2: 120,261,548 (GRCm39)	V343F	probably benign	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Gnmt	A	T	17: 47,037,225 (GRCm39)	C186*	probably null	Het
Gpr75	A	T	11: 30,842,072 (GRCm39)	I326F	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T23	G	T	17: 36,342,690 (GRCm39)	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,325,804 (GRCm39)	R4277L	probably benign	Het
Irf9	C	A	14: 55,843,223 (GRCm39)	H94N	probably benign	Het
Jhy	T	C	9: 40,872,449 (GRCm39)	N20S	probably benign	Het
Klf17	C	A	4: 117,617,568 (GRCm39)	C263F	probably damaging	Het
Lama5	T	C	2: 179,822,430 (GRCm39)	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,044,953 (GRCm39)	I882S	probably damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Mael	T	C	1: 166,063,077 (GRCm39)	E125G	probably damaging	Het
Mib2	C	T	4: 155,741,872 (GRCm39)	D275N	possibly damaging	Het
Mical3	C	T	6: 120,934,664 (GRCm39)	R1805Q	probably damaging	Het
Mix23	A	G	16: 35,903,089 (GRCm39)	D27G	probably damaging	Het
Mllt10	A	G	2: 18,208,444 (GRCm39)	D158G	probably damaging	Het
Mocs1	A	G	17: 49,761,613 (GRCm39)	D569G	possibly damaging	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,707,260 (GRCm39)	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,029,675 (GRCm39)	V164A	probably benign	Het
Nek9	T	C	12: 85,360,978 (GRCm39)	E518G	probably benign	Het
Nfatc2	T	C	2: 168,413,410 (GRCm39)	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,074,793 (GRCm39)	A746T	possibly damaging	Het
Nup42	A	G	5: 24,387,415 (GRCm39)	R402G	probably benign	Het
Ogdh	G	T	11: 6,290,600 (GRCm39)	C406F	probably benign	Het
Or3a1d	A	G	11: 74,237,789 (GRCm39)	V207A	probably benign	Het
Or4c120	G	A	2: 89,001,245 (GRCm39)	H104Y	probably damaging	Het
Or8b35	A	T	9: 37,904,381 (GRCm39)	I198F	possibly damaging	Het
Or8g17	T	A	9: 38,930,675 (GRCm39)	Y54F	probably benign	Het
Or8j3	A	T	2: 86,028,277 (GRCm39)	M273K	possibly damaging	Het
Otof	A	G	5: 30,578,318 (GRCm39)		probably null	Het
Pcdhb17	T	C	18: 37,619,259 (GRCm39)	S350P	probably damaging	Het
Phf3	T	C	1: 30,869,027 (GRCm39)	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,001,517 (GRCm39)	E465G	probably damaging	Het
Rab5c	A	G	11: 100,610,843 (GRCm39)	F22L	probably damaging	Het
Raf1	A	G	6: 115,609,880 (GRCm39)	S220P	probably damaging	Het
Rgl1	T	G	1: 152,397,122 (GRCm39)	R716S	probably damaging	Het
Rhbg	C	A	3: 88,153,273 (GRCm39)	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,027,053 (GRCm39)	E159G	possibly damaging	Het
Ryr1	T	C	7: 28,759,256 (GRCm39)	D3338G	probably null	Het
Sash1	T	C	10: 8,606,149 (GRCm39)	N747S	probably benign	Het
Serpina3g	A	T	12: 104,205,479 (GRCm39)	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,574,213 (GRCm39)	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,184,640 (GRCm39)	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,649,965 (GRCm39)	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,561,772 (GRCm39)	Y164H	probably benign	Het
Snx9	A	G	17: 5,977,499 (GRCm39)	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,434,273 (GRCm39)	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,459 (GRCm39)	V704A	probably benign	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Strap	C	A	6: 137,712,384 (GRCm39)	S11*	probably null	Het
Synpo2	A	G	3: 122,906,712 (GRCm39)	L868P	probably damaging	Het
Tenm2	A	G	11: 35,901,314 (GRCm39)	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,029,228 (GRCm39)	V92D	probably damaging	Het
Tmf1	A	T	6: 97,147,388 (GRCm39)	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,525,068 (GRCm39)	I576V	probably benign	Het
Upk1a	T	G	7: 30,304,554 (GRCm39)	T193P	probably benign	Het
Vmn2r67	A	T	7: 84,799,732 (GRCm39)	V502E	probably benign	Het
Wdr17	A	G	8: 55,143,083 (GRCm39)	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,236,153 (GRCm39)	S161C	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	probably damaging	Het
Zfp605	T	A	5: 110,275,227 (GRCm39)	M115K	possibly damaging	Het
Zp1	T	A	19: 10,896,269 (GRCm39)	H152L	probably benign	Het

Other mutations in Prkg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TGAGATCCTGGATGTCGAAGG -3'
(R):5'- CTCAAGTCGAGGGAAGCTTTTG -3'

Sequencing Primer
(F):5'- CTTGGTGCGCGGTTCAC -3'
(R):5'- TTTTGCACTCGCGAGGCAG -3'

Posted On

2015-10-08