Mutagenetix > Incidental Mutation

Incidental Mutation 'R4840:Prkg2'

371714

Institutional Source

Beutler Lab

Gene Symbol

Prkg2

Ensembl Gene

ENSMUSG00000029334

Gene Name

protein kinase, cGMP-dependent, type II

Synonyms

cGK-II, Prkgr2

MMRRC Submission

042453-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R4840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99077632-99185042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99129002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 311 (D311E)

Ref Sequence

ENSEMBL: ENSMUSP00000124963 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031277
AA Change: D311E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: D311E

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

probably benign
Transcript: ENSMUST00000161490
AA Change: D311E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: D311E

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

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

97% (114/117)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	A	1: 85,974,166 (GRCm39)	T161K	probably benign	Het
Actn3	G	A	19: 4,914,539 (GRCm39)	R530W	probably damaging	Het
Alg11	C	T	8: 22,558,026 (GRCm39)	A404V	possibly damaging	Het
Alkbh8	T	A	9: 3,369,751 (GRCm39)	V340D	probably damaging	Het
Arhgef12	T	C	9: 42,886,364 (GRCm39)	H1166R	probably benign	Het
Aspm	T	A	1: 139,398,269 (GRCm39)	D978E	possibly damaging	Het
Bod1l	C	T	5: 41,975,815 (GRCm39)	G1833D	probably damaging	Het
Brd3	A	G	2: 27,339,251 (GRCm39)	V676A	possibly damaging	Het
Brip1	G	A	11: 86,037,009 (GRCm39)	T454I	possibly damaging	Het
C3ar1	T	C	6: 122,827,723 (GRCm39)	I165V	probably benign	Het
Camta1	T	A	4: 151,228,864 (GRCm39)	Q656L	probably benign	Het
Casp14	A	T	10: 78,549,178 (GRCm39)	L256*	probably null	Het
Cdh23	G	T	10: 60,255,556 (GRCm39)	H773Q	possibly damaging	Het
Chd1	G	T	17: 15,989,016 (GRCm39)	D1590Y	probably damaging	Het
Chd1	G	A	17: 15,989,015 (GRCm39)	W1589*	probably null	Het
Cldn19	A	G	4: 119,112,951 (GRCm39)	Q61R	probably damaging	Het
Cyp2a22	A	G	7: 26,631,949 (GRCm39)	S436P	probably benign	Het
Emc10	A	C	7: 44,142,051 (GRCm39)	V124G	probably damaging	Het
Enam	A	T	5: 88,650,885 (GRCm39)	D723V	probably benign	Het
Eps8	C	A	6: 137,504,128 (GRCm39)	Q158H	probably damaging	Het
Ercc6	G	A	14: 32,263,253 (GRCm39)	D486N	probably damaging	Het
Fasn	T	C	11: 120,703,885 (GRCm39)	E1485G	possibly damaging	Het
Fat2	T	C	11: 55,169,844 (GRCm39)	K2972E	probably benign	Het
Fbxw28	T	C	9: 109,168,602 (GRCm39)	K30R	probably null	Het
Flot2	T	A	11: 77,948,339 (GRCm39)	L164Q	probably damaging	Het
Fsip2	A	T	2: 82,779,739 (GRCm39)	I162L	probably benign	Het
Fsip2	A	T	2: 82,815,815 (GRCm39)	L3849F	probably benign	Het
Gabrb1	C	G	5: 71,858,154 (GRCm39)	P60R	probably damaging	Het
Galnt14	T	C	17: 73,811,893 (GRCm39)	R443G	probably benign	Het
Gas8	C	T	8: 124,257,753 (GRCm39)	T400M	probably benign	Het
Gfap	T	C	11: 102,785,214 (GRCm39)	Y254C	probably damaging	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
Glb1l3	A	T	9: 26,740,349 (GRCm39)	M327K	probably benign	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10787	G	A	10: 76,857,841 (GRCm39)		noncoding transcript	Het
Gm1123	T	A	9: 98,900,622 (GRCm39)	D78V	probably damaging	Het
Gm27013	T	C	6: 130,655,079 (GRCm39)	T128A	probably benign	Het
Gpbp1	A	G	13: 111,577,164 (GRCm39)		probably null	Het
Gphn	G	A	12: 78,569,729 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,823 (GRCm39)	E317G	probably benign	Het
Gsdmc4	T	A	15: 63,765,596 (GRCm39)	M318L	probably benign	Het
Gtf2f2	A	T	14: 76,248,131 (GRCm39)	W19R	probably damaging	Het
Gvin-ps3	T	C	7: 105,680,627 (GRCm39)		noncoding transcript	Het
Helb	A	G	10: 119,920,763 (GRCm39)	V1060A	probably benign	Het
Igfn1	C	T	1: 135,895,778 (GRCm39)	G1596D	probably benign	Het
Il1rl2	T	C	1: 40,366,547 (GRCm39)	I27T	possibly damaging	Het
Inpp5j	A	G	11: 3,449,676 (GRCm39)	V702A	probably damaging	Het
Kmt2d	A	C	15: 98,759,775 (GRCm39)	V1161G	unknown	Het
Krtap1-3	T	G	11: 99,481,715 (GRCm39)	Y144S	possibly damaging	Het
Layn	C	T	9: 50,968,682 (GRCm39)	V354M	probably damaging	Het
Lrba	G	A	3: 86,526,816 (GRCm39)		probably null	Het
Lrp8	T	A	4: 107,727,234 (GRCm39)	L893Q	possibly damaging	Het
Mrps9	T	A	1: 42,937,575 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Myo18b	A	C	5: 113,021,895 (GRCm39)	V499G	probably benign	Het
Nbea	T	C	3: 55,618,091 (GRCm39)	E2321G	probably benign	Het
Nrsn2	C	T	2: 152,211,552 (GRCm39)	V160I	probably benign	Het
Nup210	G	A	6: 91,008,650 (GRCm39)	Q510*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or2ag12	T	G	7: 106,277,330 (GRCm39)	D121A	probably damaging	Het
P3h3	G	T	6: 124,827,600 (GRCm39)	Q479K	possibly damaging	Het
Paqr9	T	A	9: 95,442,723 (GRCm39)	F238I	probably damaging	Het
Parp3	A	T	9: 106,350,308 (GRCm39)	L343H	probably damaging	Het
Pcdh18	A	C	3: 49,699,117 (GRCm39)	M1115R	probably damaging	Het
Pcdh8	A	G	14: 80,008,308 (GRCm39)	V85A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,452 (GRCm39)	N254S	possibly damaging	Het
Pld1	T	C	3: 28,130,700 (GRCm39)	V500A	probably benign	Het
Pramel29	T	C	4: 143,935,144 (GRCm39)	K199R	probably damaging	Het
Prss42	T	C	9: 110,628,369 (GRCm39)	L171P	probably damaging	Het
Pth2	T	A	7: 44,830,767 (GRCm39)	L17H	probably damaging	Het
Reln	A	T	5: 22,223,844 (GRCm39)		probably null	Het
Rmi2	G	T	16: 10,657,701 (GRCm39)	V104L	probably damaging	Het
Rpusd4	T	A	9: 35,179,831 (GRCm39)	V108D	probably damaging	Het
Rufy4	C	A	1: 74,168,198 (GRCm39)	T82K	possibly damaging	Het
Scimp	G	A	11: 70,682,294 (GRCm39)	Q141*	probably null	Het
Sel1l2	T	C	2: 140,105,390 (GRCm39)	T267A	probably benign	Het
Sema5a	T	A	15: 32,550,400 (GRCm39)	S146R	possibly damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Slc30a6	T	C	17: 74,712,716 (GRCm39)	L71P	probably damaging	Het
Srrm3	A	G	5: 135,883,449 (GRCm39)	Y224C	possibly damaging	Het
Tacr3	A	T	3: 134,560,615 (GRCm39)	T185S	possibly damaging	Het
Tas2r140	T	A	6: 133,032,528 (GRCm39)	T77S	probably benign	Het
Thsd7b	T	C	1: 129,523,581 (GRCm39)	V128A	probably benign	Het
Tnfrsf10b	T	G	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Tonsl	A	G	15: 76,517,409 (GRCm39)	V770A	probably benign	Het
Trim42	G	A	9: 97,244,982 (GRCm39)	P606L	probably benign	Het
Trim45	A	T	3: 100,832,804 (GRCm39)	T346S	possibly damaging	Het
Ttc28	C	A	5: 111,433,947 (GRCm39)	S2296Y	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Tube1	A	G	10: 39,020,842 (GRCm39)	N243D	probably benign	Het
Tvp23b	G	T	11: 62,770,424 (GRCm39)		probably null	Het
Ubxn11	T	A	4: 133,836,919 (GRCm39)	I49N	probably damaging	Het
Usp17le	T	A	7: 104,418,977 (GRCm39)	E55V	probably benign	Het
Vmn2r114	A	T	17: 23,510,353 (GRCm39)	V709D	probably damaging	Het
Vmn2r129	G	C	4: 156,685,733 (GRCm39)		noncoding transcript	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r60	C	T	7: 41,785,285 (GRCm39)	P166S	probably damaging	Het
Vmn2r83	A	G	10: 79,313,682 (GRCm39)	I97V	possibly damaging	Het
Wbp2nl	A	T	15: 82,198,537 (GRCm39)	K358M	possibly damaging	Het
Xpo1	T	A	11: 23,228,183 (GRCm39)	I150N	probably damaging	Het
Zfp113	G	A	5: 138,143,687 (GRCm39)	L188F	probably damaging	Het
Zfp189	T	G	4: 49,529,984 (GRCm39)	S362R	probably damaging	Het
Zfp593os	A	G	4: 133,972,587 (GRCm39)		probably benign	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
R4012:Prkg2	UTSW	5	99,127,674 (GRCm39)	missense	possibly damaging	0.93
R4794:Prkg2	UTSW	5	99,114,492 (GRCm39)	missense	probably damaging	1.00
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'- TCGGAGAGAAACCCAGAGACTC -3'
(R):5'- GAACAAGCACAGTTCTTCTAGCTG -3'

Sequencing Primer
(F):5'- GAGACTCTAACAGAGACGTCTCATC -3'
(R):5'- CTTCTAGCTGATCAATAAGGCAACG -3'

Posted On

2016-03-01