Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Prkg2'

311740

Institutional Source

Beutler Lab

Gene Symbol

Prkg2

Ensembl Gene

ENSMUSG00000029334

Gene Name

protein kinase, cGMP-dependent, type II

Synonyms

cGK-II, Prkgr2

MMRRC Submission

040949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R4012 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

99077632-99185042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99127674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 346 (I346V)

Ref Sequence

ENSEMBL: ENSMUSP00000031277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031277
AA Change: I346V

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: I346V

Domain	Start	End	E-Value	Type
coiled coil region	19	85	N/A	INTRINSIC
cNMP	168	284	2.82e-19	SMART
cNMP	286	409	3.02e-28	SMART
S_TKc	424	682	9.46e-75	SMART
S_TK_X	683	733	9.83e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161490
AA Change: I346V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: I346V

Domain	Start	End	E-Value	Type
coiled coil region	19	85	N/A	INTRINSIC
cNMP	168	284	2.82e-19	SMART
cNMP	286	409	3.02e-28	SMART
S_TKc	453	711	1.19e-89	SMART
S_TK_X	712	762	9.83e-4	SMART

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein plays a role in the regulation of fluid balance in the intestine. A similar protein in mouse is thought to regulate differentiation and proliferation of cells in the colon. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice exhibit dwarfism, with abnormal skull morphology and short limbs and vertebrae. Defects in axial organization of the growth plates was evident as mice aged. Digestive secretion in response to enterotoxin was reduced. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	G	T	18: 80,174,036 (GRCm39)	F124L	probably benign	Het
Aicda	A	G	6: 122,536,449 (GRCm39)	K10E	probably benign	Het
Als2	A	G	1: 59,226,575 (GRCm39)	C910R	probably benign	Het
Ankrd11	T	A	8: 123,619,156 (GRCm39)	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,308,909 (GRCm39)	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,764,187 (GRCm39)	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,694,629 (GRCm39)	D102G	probably damaging	Het
Babam2	T	C	5: 32,158,782 (GRCm39)	V244A	probably damaging	Het
Brd10	T	G	19: 29,720,990 (GRCm39)	K622N	probably damaging	Het
Cars1	G	A	7: 143,113,411 (GRCm39)	A668V	possibly damaging	Het
Ccdc168	T	C	1: 44,100,129 (GRCm39)	D323G	possibly damaging	Het
Ccdc185	T	A	1: 182,576,453 (GRCm39)	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,826,359 (GRCm39)	R1119G	probably damaging	Het
Cebpz	A	T	17: 79,231,896 (GRCm39)	V810E	probably damaging	Het
Cep120	T	C	18: 53,871,654 (GRCm39)	T73A	probably damaging	Het
Chat	C	A	14: 32,145,269 (GRCm39)	C380F	possibly damaging	Het
Cltc	T	C	11: 86,648,087 (GRCm39)	Q10R	probably benign	Het
Cripto	C	T	9: 110,769,781 (GRCm39)	M169I	probably benign	Het
Cst8	T	C	2: 148,646,622 (GRCm39)		probably benign	Het
Cts3	C	T	13: 61,715,868 (GRCm39)		probably null	Het
Cyp4a29	T	A	4: 115,105,707 (GRCm39)	D136E	probably benign	Het
Dmxl2	A	C	9: 54,286,297 (GRCm39)		probably null	Het
Dsg4	T	A	18: 20,584,919 (GRCm39)	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,008,656 (GRCm39)	V957I	probably damaging	Het
Eif4g2	A	T	7: 110,673,358 (GRCm39)	L807Q	possibly damaging	Het
Epha4	A	G	1: 77,366,731 (GRCm39)		probably benign	Het
Epm2aip1	A	T	9: 111,101,458 (GRCm39)	I144F	probably benign	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam170a	C	T	18: 50,415,038 (GRCm39)	A228V	probably damaging	Het
Foxred1	A	T	9: 35,117,571 (GRCm39)	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,952,969 (GRCm39)	C90S	probably benign	Het
Gpr137b	T	C	13: 13,533,947 (GRCm39)	T370A	probably benign	Het
Gtf2e2	A	G	8: 34,245,993 (GRCm39)		probably benign	Het
Hgsnat	A	T	8: 26,445,817 (GRCm39)	L359*	probably null	Het
Hhip	A	T	8: 80,719,223 (GRCm39)	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,236,107 (GRCm39)	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,513,675 (GRCm39)	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,293,270 (GRCm39)	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,275,930 (GRCm39)	Y69*	probably null	Het
Inpp5j	A	G	11: 3,450,185 (GRCm39)	F615L	probably benign	Het
Kcna1	T	A	6: 126,619,873 (GRCm39)	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,625,877 (GRCm39)		probably null	Het
Krtap4-1	G	T	11: 99,518,637 (GRCm39)	C124*	probably null	Het
Lama1	T	A	17: 68,119,368 (GRCm39)	L2615*	probably null	Het
Lcp2	A	T	11: 34,018,439 (GRCm39)	I72F	probably damaging	Het
Med1	T	A	11: 98,062,532 (GRCm39)	I189F	possibly damaging	Het
Meioc	C	T	11: 102,566,654 (GRCm39)	R757C	probably damaging	Het
Mtr	T	A	13: 12,204,283 (GRCm39)	H1171L	probably damaging	Het
Mtr	G	C	13: 12,204,284 (GRCm39)	H1171D	probably damaging	Het
Naa12	A	G	18: 80,255,339 (GRCm39)	D211G	probably benign	Het
Nlrc5	A	G	8: 95,202,620 (GRCm39)	Y240C	possibly damaging	Het
Nsun4	T	A	4: 115,908,259 (GRCm39)	H767L	possibly damaging	Het
Pcdha1	T	A	18: 37,064,189 (GRCm39)	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,896,414 (GRCm39)	S495R	probably benign	Het
Pramel1	T	A	4: 143,123,260 (GRCm39)	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,673,390 (GRCm39)	E183D	possibly damaging	Het
Prex2	T	C	1: 11,254,740 (GRCm39)	F1125L	probably benign	Het
Ptprz1	A	G	6: 23,002,584 (GRCm39)	D1558G	probably damaging	Het
Pttg1ip2	A	C	5: 5,528,955 (GRCm39)	L20R	probably damaging	Het
Qng1	T	A	13: 58,529,800 (GRCm39)	K271*	probably null	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,287,002 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
S100a6	A	G	3: 90,521,508 (GRCm39)	D50G	probably damaging	Het
Shroom3	T	A	5: 93,096,342 (GRCm39)		probably benign	Het
Sipa1l1	G	A	12: 82,388,556 (GRCm39)	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 75,910,826 (GRCm39)	I337F	probably damaging	Het
Smarcc1	A	G	9: 109,961,273 (GRCm39)	Y30C	possibly damaging	Het
Swap70	A	G	7: 109,880,512 (GRCm39)	K576E	possibly damaging	Het
Syt6	A	G	3: 103,532,809 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,241,097 (GRCm39)	I1726V	probably benign	Het
Thoc1	A	G	18: 9,987,651 (GRCm39)	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409 (GRCm39)	I214V	probably benign	Het
Tonsl	A	T	15: 76,521,244 (GRCm39)	I354N	probably damaging	Het
Trappc9	T	C	15: 72,903,472 (GRCm39)	I303V	possibly damaging	Het
Trim66	A	G	7: 109,057,338 (GRCm39)	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,756,590 (GRCm39)	V6A	probably benign	Het
Ubtd2	A	G	11: 32,449,260 (GRCm39)	K36E	probably benign	Het
Zkscan2	T	C	7: 123,097,883 (GRCm39)	E171G	possibly damaging	Het

Other mutations in Prkg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Prkg2	APN	5	99,172,400 (GRCm39)	missense	probably benign	0.00
IGL01063:Prkg2	APN	5	99,117,795 (GRCm39)	critical splice donor site	probably null
IGL02060:Prkg2	APN	5	99,172,374 (GRCm39)	missense	probably benign	0.32
IGL02666:Prkg2	APN	5	99,145,378 (GRCm39)	splice site	probably benign
IGL02992:Prkg2	APN	5	99,172,365 (GRCm39)	missense	probably benign
IGL03040:Prkg2	APN	5	99,120,966 (GRCm39)	critical splice donor site	probably null
devito	UTSW	5	99,114,369 (GRCm39)	critical splice donor site	probably null
Goldwyn	UTSW	5	99,090,067 (GRCm39)	missense	possibly damaging	0.86
kilmer	UTSW	5	99,095,333 (GRCm39)	missense	probably damaging	1.00
Pulp	UTSW	5	99,124,321 (GRCm39)	missense	possibly damaging	0.92
travolta	UTSW	5	99,117,839 (GRCm39)	missense	probably damaging	1.00
P0005:Prkg2	UTSW	5	99,117,806 (GRCm39)	missense	probably damaging	1.00
R0044:Prkg2	UTSW	5	99,120,989 (GRCm39)	missense	probably damaging	0.98
R0044:Prkg2	UTSW	5	99,120,989 (GRCm39)	missense	probably damaging	0.98
R0115:Prkg2	UTSW	5	99,142,514 (GRCm39)	splice site	probably null
R0403:Prkg2	UTSW	5	99,142,504 (GRCm39)	missense	possibly damaging	0.95
R0452:Prkg2	UTSW	5	99,145,379 (GRCm39)	splice site	probably benign
R0481:Prkg2	UTSW	5	99,142,514 (GRCm39)	splice site	probably null
R1194:Prkg2	UTSW	5	99,119,785 (GRCm39)	missense	probably benign	0.00
R1534:Prkg2	UTSW	5	99,142,420 (GRCm39)	missense	probably damaging	1.00
R1861:Prkg2	UTSW	5	99,095,275 (GRCm39)	missense	probably damaging	1.00
R2010:Prkg2	UTSW	5	99,172,664 (GRCm39)	missense	probably benign
R2031:Prkg2	UTSW	5	99,172,310 (GRCm39)	missense	possibly damaging	0.85
R2176:Prkg2	UTSW	5	99,114,368 (GRCm39)	splice site	probably benign
R3607:Prkg2	UTSW	5	99,095,236 (GRCm39)	missense	probably damaging	1.00
R3958:Prkg2	UTSW	5	99,145,354 (GRCm39)	missense	possibly damaging	0.84
R3960:Prkg2	UTSW	5	99,145,354 (GRCm39)	missense	possibly damaging	0.84
R4794:Prkg2	UTSW	5	99,114,492 (GRCm39)	missense	probably damaging	1.00
R4840:Prkg2	UTSW	5	99,129,002 (GRCm39)	missense	probably benign	0.03
R4867:Prkg2	UTSW	5	99,172,568 (GRCm39)	missense	probably benign	0.21
R5182:Prkg2	UTSW	5	99,172,568 (GRCm39)	missense	probably benign	0.21
R5226:Prkg2	UTSW	5	99,124,321 (GRCm39)	missense	possibly damaging	0.92
R5274:Prkg2	UTSW	5	99,117,850 (GRCm39)	missense	probably damaging	1.00
R5416:Prkg2	UTSW	5	99,091,326 (GRCm39)	missense	probably benign	0.05
R5531:Prkg2	UTSW	5	99,115,593 (GRCm39)	missense	probably damaging	1.00
R5619:Prkg2	UTSW	5	99,136,156 (GRCm39)	missense	probably damaging	1.00
R6264:Prkg2	UTSW	5	99,082,223 (GRCm39)	missense	probably benign	0.22
R6925:Prkg2	UTSW	5	99,114,369 (GRCm39)	critical splice donor site	probably null
R7971:Prkg2	UTSW	5	99,079,873 (GRCm39)	missense	probably damaging	1.00
R8210:Prkg2	UTSW	5	99,114,393 (GRCm39)	missense	probably damaging	1.00
R8788:Prkg2	UTSW	5	99,117,839 (GRCm39)	missense	probably damaging	1.00
R8824:Prkg2	UTSW	5	99,090,067 (GRCm39)	missense	possibly damaging	0.86
R8825:Prkg2	UTSW	5	99,090,043 (GRCm39)	missense	probably benign	0.02
R8932:Prkg2	UTSW	5	99,095,299 (GRCm39)	missense	possibly damaging	0.80
R8950:Prkg2	UTSW	5	99,119,815 (GRCm39)	missense	possibly damaging	0.54
R9026:Prkg2	UTSW	5	99,114,386 (GRCm39)	missense	probably benign
R9210:Prkg2	UTSW	5	99,095,333 (GRCm39)	missense	probably damaging	1.00
R9363:Prkg2	UTSW	5	99,172,257 (GRCm39)	missense	probably benign	0.30
R9627:Prkg2	UTSW	5	99,079,869 (GRCm39)	makesense	probably null
Z1088:Prkg2	UTSW	5	99,172,663 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCATAATACCTTGCTCCAAAGTCG -3'
(R):5'- TGTTGTCCTGACTACAGCACC -3'

Sequencing Primer
(F):5'- ATACCTTGCTCCAAAGTCGTTAGG -3'
(R):5'- TTGTCCTGACTACAGCACCACTAATG -3'

Posted On

2015-04-29