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: 0.487) question?

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30567551-31765033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31664239 bp (GRCm38)

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: 26,990,627	L147P	probably damaging	Het
Acan	A	G	7: 79,101,142	E464G	probably benign	Het
Agap1	A	G	1: 89,837,806		probably null	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,902,919		probably benign	Het
Arap3	T	C	18: 37,996,254	D217G	probably benign	Het
Arl2	C	A	19: 6,134,686	R179L	probably damaging	Het
Atg2a	T	A	19: 6,258,987		probably null	Het
B3gat1	T	A	9: 26,751,756	L6Q	probably benign	Het
Bcl10	A	G	3: 145,930,572	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Brms1l	A	G	12: 55,841,571	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,315,025	N414K	possibly damaging	Het
Capn2	C	T	1: 182,470,780	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,245,724	R99M	probably damaging	Het
Ccdc51	A	G	9: 109,090,962	N142S	probably benign	Het
Ccdc58	A	G	16: 36,082,719	D27G	probably damaging	Het
Cdipt	A	G	7: 126,978,406	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Cts3	C	T	13: 61,566,823	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,937,855	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,643,654	H90L	probably benign	Het
Ddx4	T	C	13: 112,622,244	Y261C	probably damaging	Het
Dnah17	T	C	11: 118,074,293	T2308A	probably benign	Het
Dnah6	T	C	6: 73,037,688	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,432,368	V494I	possibly damaging	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,910,797	I78V	probably benign	Het
Esam	T	A	9: 37,536,656	Y195*	probably null	Het
Extl3	T	A	14: 65,076,296	N479I	possibly damaging	Het
Fat2	A	G	11: 55,311,615	V211A	probably benign	Het
Ganc	G	T	2: 120,431,067	V343F	probably benign	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gnmt	A	T	17: 46,726,299	C186*	probably null	Het
Gpr75	A	T	11: 30,892,072	I326F	probably damaging	Het
Gsdme	C	T	6: 50,208,122	V451M	probably damaging	Het
H2-T23	G	T	17: 36,031,798	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,435,792	R4277L	probably benign	Het
Irf9	C	A	14: 55,605,766	H94N	probably benign	Het
Jhy	T	C	9: 40,961,153	N20S	probably benign	Het
Klf17	C	A	4: 117,760,371	C263F	probably damaging	Het
Lama5	T	C	2: 180,180,637	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,311,028	I882S	probably damaging	Het
Ltn1	A	T	16: 87,418,487	M420K	possibly damaging	Het
Mael	T	C	1: 166,235,508	E125G	probably damaging	Het
Mib2	C	T	4: 155,657,415	D275N	possibly damaging	Het
Mical3	C	T	6: 120,957,703	R1805Q	probably damaging	Het
Mllt10	A	G	2: 18,203,633	D158G	probably damaging	Het
Mocs1	A	G	17: 49,454,585	D569G	possibly damaging	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,795,964	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,187,755	V164A	probably benign	Het
Nek9	T	C	12: 85,314,204	E518G	probably benign	Het
Nfatc2	T	C	2: 168,571,490	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,375,368	A746T	possibly damaging	Het
Nupl2	A	G	5: 24,182,417	R402G	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfr1045	A	T	2: 86,197,933	M273K	possibly damaging	Het
Olfr1225	G	A	2: 89,170,901	H104Y	probably damaging	Het
Olfr146	T	A	9: 39,019,379	Y54F	probably benign	Het
Olfr411	A	G	11: 74,346,963	V207A	probably benign	Het
Olfr881	A	T	9: 37,993,085	I198F	possibly damaging	Het
Otof	A	G	5: 30,420,974		probably null	Het
Pcdhb17	T	C	18: 37,486,206	S350P	probably damaging	Het
Phf3	T	C	1: 30,829,946	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,352,093	E465G	probably damaging	Het
Rab5c	A	G	11: 100,720,017	F22L	probably damaging	Het
Raf1	A	G	6: 115,632,919	S220P	probably damaging	Het
Rgl1	T	G	1: 152,521,371	R716S	probably damaging	Het
Rhbg	C	A	3: 88,245,966	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,209,189	E159G	possibly damaging	Het
Ryr1	T	C	7: 29,059,831	D3338G	probably null	Het
Sash1	T	C	10: 8,730,385	N747S	probably benign	Het
Serpina3g	A	T	12: 104,239,220	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,585,774	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,354,295	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,672,565	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,856,011	Y164H	probably benign	Het
Snx9	A	G	17: 5,927,224	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,592,353	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,373	V704A	probably benign	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Strap	C	A	6: 137,735,386	S11*	probably null	Het
Synpo2	A	G	3: 123,113,063	L868P	probably damaging	Het
Tenm2	A	G	11: 36,010,487	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,187,308	V92D	probably damaging	Het
Tmf1	A	T	6: 97,170,427	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,217,639	I576V	probably benign	Het
Upk1a	T	G	7: 30,605,129	T193P	probably benign	Het
Vmn2r67	A	T	7: 85,150,524	V502E	probably benign	Het
Wdr17	A	G	8: 54,690,048	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,151,696	S161C	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	Het
Zfp605	T	A	5: 110,127,361	M115K	possibly damaging	Het
Zp1	T	A	19: 10,918,905	H152L	probably benign	Het

Other mutations in Prkg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Prkg1	APN	19	31302340	missense	probably benign	0.02
IGL00481:Prkg1	APN	19	30571622	missense	probably benign	0.28
IGL00517:Prkg1	APN	19	30894668	missense	probably benign
IGL00782:Prkg1	APN	19	30578753	splice site	probably benign
IGL01070:Prkg1	APN	19	30569343	splice site	probably benign
IGL01106:Prkg1	APN	19	30585278	missense	probably benign	0.05
IGL01783:Prkg1	APN	19	30624689	missense	probably damaging	1.00
IGL02135:Prkg1	APN	19	30993076	missense	probably benign	0.13
IGL02492:Prkg1	APN	19	30724202	missense	probably damaging	1.00
IGL02543:Prkg1	APN	19	30624734	missense	possibly damaging	0.62
IGL02733:Prkg1	APN	19	31302301	missense	probably damaging	1.00
IGL03129:Prkg1	APN	19	30585281	nonsense	probably null
IGL03220:Prkg1	APN	19	30569237	utr 3 prime	probably benign
R0363:Prkg1	UTSW	19	31664196	missense	probably damaging	1.00
R0693:Prkg1	UTSW	19	30594978	missense	probably benign
R1099:Prkg1	UTSW	19	30571612	missense	probably benign
R1464:Prkg1	UTSW	19	30578870	missense	probably damaging	0.99
R1464:Prkg1	UTSW	19	30578870	missense	probably damaging	0.99
R1556:Prkg1	UTSW	19	30624743	missense	probably benign
R1738:Prkg1	UTSW	19	30786922	missense	possibly damaging	0.48
R1974:Prkg1	UTSW	19	31585695	missense	probably damaging	1.00
R2011:Prkg1	UTSW	19	31664142	missense	possibly damaging	0.94
R2207:Prkg1	UTSW	19	30578860	missense	probably damaging	1.00
R2270:Prkg1	UTSW	19	30578631	missense	probably benign	0.27
R3009:Prkg1	UTSW	19	31664112	missense	possibly damaging	0.74
R4078:Prkg1	UTSW	19	31585578	missense	probably damaging	1.00
R4355:Prkg1	UTSW	19	30569229	utr 3 prime	probably benign
R4652:Prkg1	UTSW	19	30595012	missense	probably damaging	1.00
R4684:Prkg1	UTSW	19	31664179	nonsense	probably null
R4789:Prkg1	UTSW	19	31585645	missense	probably damaging	0.97
R4826:Prkg1	UTSW	19	31764606	missense	possibly damaging	0.93
R4936:Prkg1	UTSW	19	30586375	missense	probably benign	0.37
R5625:Prkg1	UTSW	19	31764762	missense	possibly damaging	0.95
R5819:Prkg1	UTSW	19	31585672	missense	probably benign	0.02
R5855:Prkg1	UTSW	19	30894694	missense	possibly damaging	0.93
R5882:Prkg1	UTSW	19	31585697	missense	probably damaging	1.00
R5965:Prkg1	UTSW	19	30724156	splice site	probably null
R5968:Prkg1	UTSW	19	30592924	missense	probably damaging	1.00
R6310:Prkg1	UTSW	19	30569251	missense	probably damaging	1.00
R6433:Prkg1	UTSW	19	30781346	missense	probably benign	0.21
R6702:Prkg1	UTSW	19	30993084	missense	probably benign	0.00
R6750:Prkg1	UTSW	19	31764561	missense	probably benign	0.41
R6894:Prkg1	UTSW	19	30624774	nonsense	probably null
R7155:Prkg1	UTSW	19	31302301	missense	probably damaging	1.00
R7165:Prkg1	UTSW	19	30585199	missense	probably damaging	1.00
R7238:Prkg1	UTSW	19	30624690	missense	probably damaging	1.00
R7428:Prkg1	UTSW	19	30578835	missense	probably damaging	1.00
R7748:Prkg1	UTSW	19	30993091	missense	possibly damaging	0.90
R7804:Prkg1	UTSW	19	30578632	missense	probably benign	0.00
R7804:Prkg1	UTSW	19	30624770	missense	possibly damaging	0.92
R7893:Prkg1	UTSW	19	30586367	missense	probably damaging	0.99
R8304:Prkg1	UTSW	19	30724184	missense	possibly damaging	0.75
R8497:Prkg1	UTSW	19	31302309	missense	probably damaging	1.00
R8676:Prkg1	UTSW	19	31764746	missense	probably damaging	0.98
R9318:Prkg1	UTSW	19	30571638	missense	probably benign	0.09
R9694:Prkg1	UTSW	19	30786971	missense	possibly damaging	0.84
X0011:Prkg1	UTSW	19	30993121	missense	probably damaging	1.00
Z1177:Prkg1	UTSW	19	31302373	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