Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Prkg1'

597064

Institutional Source

Beutler Lab

Gene Symbol

Prkg1

Ensembl Gene

ENSMUSG00000052920

Gene Name

protein kinase, cGMP-dependent, type I

Synonyms

Prkgr1b, Prkg1b

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

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

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30541889-31742433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30970491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 222 (I222F)

Ref Sequence

ENSEMBL: ENSMUSP00000073268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065067] [ENSMUST00000073581]

AlphaFold

P0C605

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065067
AA Change: I207F

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920
AA Change: I207F

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

possibly damaging
Transcript: ENSMUST00000073581
AA Change: I222F

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920
AA Change: I222F

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,963,521 (GRCm39)	L103F	probably benign	Het
5330417H12Rik	A	G	7: 107,223,765 (GRCm39)	L103P	unknown	Het
Actb	T	C	5: 142,890,450 (GRCm39)	I151V	probably benign	Het
Adcy6	T	A	15: 98,502,437 (GRCm39)	H59L	probably benign	Het
Adss2	G	C	1: 177,599,768 (GRCm39)	S272*	probably null	Het
Aga	A	T	8: 53,964,840 (GRCm39)	M1L	possibly damaging	Het
Ajm1	T	A	2: 25,468,971 (GRCm39)	E313D	possibly damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgap45	A	T	10: 79,852,766 (GRCm39)		probably benign	Het
Atp6v0a2	A	T	5: 124,793,560 (GRCm39)	H639L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,013,484 (GRCm39)		probably null	Het
Bod1l	A	C	5: 41,989,683 (GRCm39)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,627,996 (GRCm39)	D46G	probably damaging	Het
Camk1	T	C	6: 113,317,289 (GRCm39)	E60G	probably damaging	Het
Capza1	A	T	3: 104,732,721 (GRCm39)		probably null	Het
Ccdc18	T	A	5: 108,296,907 (GRCm39)		probably null	Het
Cdh20	G	A	1: 104,869,024 (GRCm39)	A172T	probably damaging	Het
Cdk4	C	T	10: 126,900,298 (GRCm39)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,888 (GRCm39)		probably null	Het
Chd3	T	C	11: 69,246,459 (GRCm39)	M1092V	probably benign	Het
Chd6	A	T	2: 160,808,539 (GRCm39)	H1558Q	probably benign	Het
Chi3l1	A	G	1: 134,116,966 (GRCm39)	H318R	probably benign	Het
Cps1	A	G	1: 67,178,965 (GRCm39)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 86,914,434 (GRCm39)	V111A	probably damaging	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,572,546 (GRCm39)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,217,024 (GRCm39)	K64N	probably damaging	Het
Eef1ece2	A	T	16: 20,451,834 (GRCm39)	D407V	probably damaging	Het
Fam135a	A	G	1: 24,068,050 (GRCm39)	S940P	probably benign	Het
Fam234b	T	A	6: 135,186,349 (GRCm39)	V119E	probably damaging	Het
Fbxo46	G	C	7: 18,870,458 (GRCm39)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,572,505 (GRCm39)		probably benign	Het
Fmn2	T	A	1: 174,494,215 (GRCm39)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm39)	T64K	probably damaging	Het
Fscb	A	T	12: 64,521,181 (GRCm39)	M95K	probably benign	Het
Fyb1	T	G	15: 6,668,307 (GRCm39)	V500G	probably damaging	Het
G2e3	A	G	12: 51,418,450 (GRCm39)	N615S	probably benign	Het
Gart	T	C	16: 91,427,540 (GRCm39)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,313,224 (GRCm39)	D696V	probably benign	Het
Glmn	C	T	5: 107,710,110 (GRCm39)		probably null	Het
Gm47985	A	T	1: 151,058,725 (GRCm39)	D122V	probably damaging	Het
Gm7168	A	G	17: 14,168,914 (GRCm39)	K94E	probably benign	Het
Gnai2	T	C	9: 107,492,934 (GRCm39)	H323R		Het
Helz2	C	T	2: 180,876,324 (GRCm39)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,858,413 (GRCm39)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,928,270 (GRCm39)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,154,911 (GRCm39)	R343S	probably damaging	Het
Itga8	T	A	2: 12,235,050 (GRCm39)	I403F	possibly damaging	Het
Katnip	A	T	7: 125,428,973 (GRCm39)	M558L	probably benign	Het
Krt33a	C	T	11: 99,902,428 (GRCm39)	R404H	probably benign	Het
Krt34	T	A	11: 99,929,764 (GRCm39)	E244V	probably damaging	Het
Krt42	T	C	11: 100,157,792 (GRCm39)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,585 (GRCm39)	L553P		Het
Lcn9	T	A	2: 25,714,926 (GRCm39)	*179K	probably null	Het
Ldaf1	A	T	7: 119,714,702 (GRCm39)	I64F	possibly damaging	Het
Lrrc2	T	G	9: 110,809,999 (GRCm39)	M345R	possibly damaging	Het
Marchf11	T	C	15: 26,387,916 (GRCm39)	V257A	probably damaging	Het
Masp2	T	C	4: 148,690,163 (GRCm39)	I224T	probably benign	Het
Mpz	A	T	1: 170,987,509 (GRCm39)		probably null	Het
Mtr	C	T	13: 12,242,725 (GRCm39)	A442T	probably benign	Het
Muc5b	A	G	7: 141,401,542 (GRCm39)	K596R	unknown	Het
Myo15a	T	G	11: 60,395,727 (GRCm39)	F1397C		Het
Ncor2	T	C	5: 125,187,031 (GRCm39)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,045,800 (GRCm39)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,545,627 (GRCm39)	A390T	probably damaging	Het
Or10a3n	T	C	7: 108,493,285 (GRCm39)	T115A	probably benign	Het
Or1e22	T	G	11: 73,376,994 (GRCm39)	I219L	probably benign	Het
Pds5a	T	A	5: 65,777,009 (GRCm39)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,872 (GRCm39)	R966L	possibly damaging	Het
Plk3	T	C	4: 116,988,925 (GRCm39)	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,314,334 (GRCm39)		probably null	Het
Plxna1	T	A	6: 89,314,335 (GRCm39)		probably null	Het
Ppp4r4	G	A	12: 103,571,320 (GRCm39)		probably null	Het
Pramel6	T	A	2: 87,339,043 (GRCm39)	V81E	probably damaging	Het
Prdm2	T	C	4: 142,862,459 (GRCm39)	E277G	possibly damaging	Het
Proser3	A	T	7: 30,239,497 (GRCm39)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,190 (GRCm39)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,655,031 (GRCm39)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,017,741 (GRCm39)	I744V	probably null	Het
Rad54l2	A	G	9: 106,596,233 (GRCm39)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,415 (GRCm39)		probably null	Het
Rtcb	A	T	10: 85,777,832 (GRCm39)	D447E	probably benign	Het
Rtn1	C	T	12: 72,263,700 (GRCm39)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,436,140 (GRCm39)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,096,722 (GRCm39)	M1T	probably null	Het
Slc1a4	T	C	11: 20,282,252 (GRCm39)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,031,940 (GRCm39)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,386,519 (GRCm39)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,289,426 (GRCm39)	I226V	probably benign	Het
Spata22	T	G	11: 73,227,080 (GRCm39)	I98S	probably null	Het
Spef2	C	T	15: 9,653,031 (GRCm39)	V917M	probably damaging	Het
Sspo	C	A	6: 48,426,399 (GRCm39)	C139*	probably null	Het
Tenm4	A	G	7: 96,543,909 (GRCm39)	D2012G	probably damaging	Het
Tgm5	G	A	2: 120,883,289 (GRCm39)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,006,753 (GRCm39)	W82*	probably null	Het
Topors	T	A	4: 40,262,654 (GRCm39)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,888,569 (GRCm39)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,985,250 (GRCm39)	D19E	unknown	Het
Usp17lc	A	G	7: 103,067,688 (GRCm39)	T328A	probably damaging	Het
Utrn	A	G	10: 12,490,252 (GRCm39)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,955,549 (GRCm39)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,570,343 (GRCm39)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,870,371 (GRCm39)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,236,720 (GRCm39)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp773	T	C	7: 7,135,907 (GRCm39)	R230G	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
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
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'- GCAGACACATCACAAGGCTG -3'
(R):5'- TTTTGCCACTGAGCATAGCTGG -3'

Sequencing Primer
(F):5'- CATCACAAGGCTGAAGTCTGTGC -3'
(R):5'- AAGGTTAATCACGTTCGTACCTC -3'

Posted On

2019-11-26