Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Prkg1'

165378

Institutional Source

Beutler Lab

Gene Symbol

Prkg1

Ensembl Gene

ENSMUSG00000052920

Gene Name

protein kinase, cGMP-dependent, type I

Synonyms

Prkgr1b, Prkg1b

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

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

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30541889-31742433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30556270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 559 (S559P)

Ref Sequence

ENSEMBL: ENSMUSP00000067576 (fasta)

Gene Model

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

AlphaFold

P0C605

Predicted Effect

probably damaging
Transcript: ENSMUST00000065067
AA Change: S559P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920
AA Change: S559P

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: S574P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920
AA Change: S574P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183135

Coding Region Coverage

1x: 99.5%
3x: 98.0%
10x: 91.0%
20x: 72.6%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	A	G	12: 31,234,914 (GRCm39)		noncoding transcript	Het
Adamts8	T	A	9: 30,862,673 (GRCm39)	W86R	probably benign	Het
Adh1	A	G	3: 137,994,508 (GRCm39)		probably null	Het
Adipor2	A	T	6: 119,338,804 (GRCm39)	W150R	probably damaging	Het
Aff4	T	A	11: 53,263,351 (GRCm39)	S124T	probably damaging	Het
Ahnak	G	T	19: 8,982,260 (GRCm39)	K1181N	probably damaging	Het
Alkbh5	A	G	11: 60,429,873 (GRCm39)	I209V	probably benign	Het
Ankrd11	T	C	8: 123,619,463 (GRCm39)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,345,297 (GRCm39)	D162E	probably benign	Het
Asic3	G	A	5: 24,618,819 (GRCm39)	G37E	probably damaging	Het
AU040320	A	T	4: 126,685,824 (GRCm39)	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,766,481 (GRCm39)	S34G	probably benign	Het
Ccdc148	T	A	2: 58,796,374 (GRCm39)	R463*	probably null	Het
Ccdc148	T	C	2: 58,824,455 (GRCm39)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,576,263 (GRCm39)	I142T	probably benign	Het
Chrna10	G	A	7: 101,763,454 (GRCm39)	P114S	probably damaging	Het
Chst10	A	G	1: 38,904,772 (GRCm39)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,271,698 (GRCm39)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,330,099 (GRCm39)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,903,827 (GRCm39)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,671,478 (GRCm39)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,559,029 (GRCm39)	K96*	probably null	Het
Ddx5	A	C	11: 106,675,711 (GRCm39)	D326E	probably benign	Het
Dlg2	T	C	7: 91,617,406 (GRCm39)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 120,306,049 (GRCm39)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,914,147 (GRCm39)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,091,366 (GRCm39)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,813,900 (GRCm39)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,602,453 (GRCm39)	H663L	possibly damaging	Het
Emc1	A	G	4: 139,098,248 (GRCm39)	N740S	probably damaging	Het
Enpp2	C	T	15: 54,727,208 (GRCm39)	G541D	probably damaging	Het
Fam234b	C	T	6: 135,205,490 (GRCm39)	T485I	probably benign	Het
Fbxl13	A	T	5: 21,688,989 (GRCm39)	I773K	probably benign	Het
Fmo4	A	G	1: 162,621,924 (GRCm39)	F429S	possibly damaging	Het
Frem1	T	C	4: 82,930,116 (GRCm39)	S277G	probably damaging	Het
Gaa	A	G	11: 119,163,810 (GRCm39)	I221V	probably benign	Het
Helz2	T	C	2: 180,881,447 (GRCm39)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,760,237 (GRCm39)	R47I	probably damaging	Het
Igsf21	C	A	4: 139,761,836 (GRCm39)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,407,731 (GRCm39)	I37L	probably benign	Het
Jag1	T	C	2: 136,957,568 (GRCm39)	E48G	probably damaging	Het
Jarid2	G	T	13: 45,001,857 (GRCm39)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,369,605 (GRCm39)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,083,891 (GRCm39)	K713E	possibly damaging	Het
Layn	T	A	9: 50,968,886 (GRCm39)	S286C	probably damaging	Het
Lepr	T	A	4: 101,592,878 (GRCm39)	D164E	probably benign	Het
Macroh2a1	A	T	13: 56,230,949 (GRCm39)	S310T	probably damaging	Het
Map3k1	T	C	13: 111,892,405 (GRCm39)	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,852,124 (GRCm39)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 119,851,742 (GRCm39)	S895T	probably benign	Het
Naca	T	A	10: 127,884,157 (GRCm39)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,011,952 (GRCm39)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 27,058,253 (GRCm39)	A234S	probably benign	Het
Nol8	G	A	13: 49,830,264 (GRCm39)	S1116N	probably benign	Het
Nppa	T	C	4: 148,085,304 (GRCm39)	S5P	probably benign	Het
Nup210	A	G	6: 91,030,551 (GRCm39)	V123A	possibly damaging	Het
Or13a21	G	T	7: 139,999,286 (GRCm39)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,049,455 (GRCm39)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 13,047,615 (GRCm39)	S113N	probably benign	Het
P2rx4	C	A	5: 122,852,602 (GRCm39)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,692,136 (GRCm39)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,689,160 (GRCm39)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,515,990 (GRCm39)	F977I	probably damaging	Het
Potefam1	A	G	2: 111,055,748 (GRCm39)		probably null	Het
Pp2d1	T	G	17: 53,823,015 (GRCm39)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,843,527 (GRCm39)	E415G	probably damaging	Het
Pramel19	T	A	4: 101,798,503 (GRCm39)	L158Q	probably damaging	Het
Prss45	A	T	9: 110,670,019 (GRCm39)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,883,517 (GRCm39)	N849K	probably damaging	Het
Rnf121	A	G	7: 101,680,782 (GRCm39)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,699,368 (GRCm39)	N502S	probably damaging	Het
Sap25	T	A	5: 137,640,622 (GRCm39)	Y167*	probably null	Het
Sdk2	G	A	11: 113,720,906 (GRCm39)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,792,896 (GRCm39)	V302A	probably benign	Het
Skor1	T	A	9: 63,047,393 (GRCm39)	M865L	possibly damaging	Het
Slc35g1	C	A	19: 38,391,665 (GRCm39)	L316I	probably benign	Het
Slco1a8	C	T	6: 141,938,243 (GRCm39)	W225*	probably null	Het
Spint4	T	A	2: 164,540,568 (GRCm39)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,389,154 (GRCm39)	D178V	probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm39)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,400,197 (GRCm39)		probably null	Het
Teddm2	C	T	1: 153,726,277 (GRCm39)	W146*	probably null	Het
Ttn	T	A	2: 76,589,338 (GRCm39)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm39)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,804,076 (GRCm39)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,204,681 (GRCm39)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,463,348 (GRCm39)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,242,217 (GRCm39)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,200,914 (GRCm39)	L137F	probably benign	Het
Vps13b	C	T	15: 35,709,630 (GRCm39)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,415,019 (GRCm39)	H347R	probably benign	Het
Wnk2	G	A	13: 49,235,451 (GRCm39)	P655S	probably damaging	Het
Zan	T	G	5: 137,418,191 (GRCm39)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,331,075 (GRCm39)	H334R	probably damaging	Het
Zfp108	A	G	7: 23,959,973 (GRCm39)	D188G	probably benign	Het
Zfp784	A	T	7: 5,038,800 (GRCm39)	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,458 (GRCm39)	C336W	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTAACCTCTCTGATGGGTTGTCCCTAA -3'
(R):5'- GCTTTGCTCAACAATGACTTGTGCT -3'

Sequencing Primer
(F):5'- CTCTGATGGGTTGTCCCTAAAAATG -3'
(R):5'- CTCAACAATGACTTGTGCTTTGTTAG -3'

Posted On

2014-03-28