Mutagenetix > Incidental Mutation

Incidental Mutation 'R0403:Prkg2'

35685

Institutional Source

Beutler Lab

Gene Symbol

Prkg2

Ensembl Gene

ENSMUSG00000029334

Gene Name

protein kinase, cGMP-dependent, type II

Synonyms

cGK-II, Prkgr2

MMRRC Submission

038608-MU

Accession Numbers

Essential gene?

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

Stock #

R0403 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

99077632-99185042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99142504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 210 (E210G)

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: E210G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: E210G

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: E210G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: E210G

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

0.7671

Coding Region Coverage

1x: 98.0%
3x: 96.8%
10x: 93.2%
20x: 83.7%

Validation Efficiency

97% (110/113)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,864,706 (GRCm39)		probably null	Het
Adgrg3	C	T	8: 95,763,550 (GRCm39)	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469 (GRCm39)	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,728,712 (GRCm39)	M590K	probably benign	Het
Ap4b1	T	A	3: 103,726,155 (GRCm39)	C244S	probably damaging	Het
Arhgap15	C	T	2: 43,953,778 (GRCm39)	T168I	probably damaging	Het
Atp8b1	A	G	18: 64,673,381 (GRCm39)	V997A	probably damaging	Het
Atrn	G	A	2: 130,748,779 (GRCm39)	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,155,416 (GRCm39)	A151S	probably benign	Het
Baz2b	A	T	2: 59,799,721 (GRCm39)	D199E	possibly damaging	Het
Bmal2	T	A	6: 146,724,153 (GRCm39)	H348Q	probably damaging	Het
Cblb	A	G	16: 51,972,989 (GRCm39)	D440G	probably benign	Het
Cdon	T	C	9: 35,384,796 (GRCm39)	V694A	probably benign	Het
Cep250	A	T	2: 155,834,269 (GRCm39)	R2065W	probably damaging	Het
Ces2b	G	T	8: 105,560,577 (GRCm39)	A131S	probably damaging	Het
Chrna9	A	T	5: 66,125,235 (GRCm39)	T59S	possibly damaging	Het
Cog3	T	A	14: 75,979,767 (GRCm39)		probably benign	Het
Cpa1	G	A	6: 30,641,856 (GRCm39)	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,935,323 (GRCm39)	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,976,230 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,447,575 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,193,942 (GRCm39)		probably null	Het
Dnah9	T	A	11: 65,975,615 (GRCm39)	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,501,787 (GRCm39)	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,680,334 (GRCm39)	D325V	probably damaging	Het
Entpd6	C	A	2: 150,602,090 (GRCm39)	T194K	possibly damaging	Het
Fat2	A	T	11: 55,161,175 (GRCm39)	V3185E	probably benign	Het
Flrt1	A	G	19: 7,073,284 (GRCm39)	L421P	probably benign	Het
Fmn2	A	T	1: 174,521,844 (GRCm39)	Q1292L	probably damaging	Het
Fndc1	T	C	17: 7,972,555 (GRCm39)	D1459G	probably damaging	Het
Fndc1	T	C	17: 7,994,420 (GRCm39)		probably null	Het
Fzr1	A	G	10: 81,205,202 (GRCm39)	S265P	possibly damaging	Het
Gpr142	G	A	11: 114,696,855 (GRCm39)	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,343,375 (GRCm39)	V24L	possibly damaging	Het
Herc2	G	A	7: 55,809,165 (GRCm39)	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,677,676 (GRCm39)	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,819,959 (GRCm39)	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,503,438 (GRCm39)	I186V	probably benign	Het
Itga2b	C	T	11: 102,358,152 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,014,009 (GRCm39)	D736A	possibly damaging	Het
Itpkc	T	A	7: 26,907,770 (GRCm39)	M645L	probably benign	Het
Jchain	T	C	5: 88,669,237 (GRCm39)	R139G	probably benign	Het
Kif13a	A	G	13: 46,944,877 (GRCm39)	V908A	probably damaging	Het
Kif1b	T	A	4: 149,266,424 (GRCm39)	K389*	probably null	Het
Klhl12	T	C	1: 134,413,594 (GRCm39)	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,452,276 (GRCm39)	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191 (GRCm39)	N27Y	probably damaging	Het
Lpar2	T	A	8: 70,276,802 (GRCm39)	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Lum	G	T	10: 97,407,905 (GRCm39)	V337F	probably benign	Het
Mag	T	C	7: 30,606,405 (GRCm39)	D344G	probably damaging	Het
Maip1	G	A	1: 57,446,355 (GRCm39)	A142T	probably benign	Het
Mlh3	A	G	12: 85,315,742 (GRCm39)	V148A	possibly damaging	Het
Nav3	A	G	10: 109,602,964 (GRCm39)	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,110,401 (GRCm39)	S868P	possibly damaging	Het
Nek1	A	G	8: 61,559,889 (GRCm39)	E907G	probably damaging	Het
Nfam1	G	A	15: 82,900,580 (GRCm39)	T134I	probably benign	Het
Nr0b2	T	C	4: 133,281,070 (GRCm39)	V112A	probably damaging	Het
Nrp1	A	G	8: 129,184,450 (GRCm39)	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,211,710 (GRCm39)	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,841,927 (GRCm39)	A282V	probably damaging	Het
Nxf1	T	C	19: 8,742,392 (GRCm39)	I337T	probably damaging	Het
Obscn	C	T	11: 58,967,366 (GRCm39)	G479D	probably damaging	Het
Oprd1	T	A	4: 131,841,079 (GRCm39)	D293V	probably benign	Het
Or13a17	T	C	7: 140,271,222 (GRCm39)	S135P	possibly damaging	Het
P3h2	T	G	16: 25,788,700 (GRCm39)	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,135,367 (GRCm39)	Y214C	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Ppic	C	A	18: 53,544,143 (GRCm39)	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 21,177,303 (GRCm39)	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,550,361 (GRCm39)	S46A	probably benign	Het
Pramel31	A	G	4: 144,089,216 (GRCm39)	N178S	probably benign	Het
Prkce	A	G	17: 86,476,081 (GRCm39)	T21A	probably damaging	Het
Prss35	A	G	9: 86,638,090 (GRCm39)	M287V	probably damaging	Het
Psd	G	A	19: 46,309,411 (GRCm39)		probably benign	Het
Ptch2	A	T	4: 116,968,036 (GRCm39)	K843*	probably null	Het
Rab44	C	A	17: 29,364,235 (GRCm39)	T603K	probably damaging	Het
Rasal3	T	A	17: 32,611,764 (GRCm39)		probably null	Het
Rbbp6	A	G	7: 122,591,519 (GRCm39)	T526A	probably damaging	Het
Ros1	A	T	10: 52,019,534 (GRCm39)		probably benign	Het
Sec24b	T	A	3: 129,783,325 (GRCm39)	L1104F	possibly damaging	Het
Sec24b	A	G	3: 129,793,183 (GRCm39)	S685P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setmar	A	T	6: 108,052,923 (GRCm39)	H139L	probably benign	Het
Slc28a2b	T	C	2: 122,352,335 (GRCm39)	L364S	probably damaging	Het
Slc4a7	T	C	14: 14,766,808 (GRCm38)	V710A	probably benign	Het
Smarcc1	T	A	9: 110,066,876 (GRCm39)		probably null	Het
Smchd1	G	A	17: 71,701,897 (GRCm39)	L1032F	probably damaging	Het
Speg	T	C	1: 75,407,428 (GRCm39)		probably benign	Het
Tasor2	A	T	13: 3,632,052 (GRCm39)	Y816*	probably null	Het
Tcea1	C	G	1: 4,959,726 (GRCm39)	R134G	probably benign	Het
Tchhl1	C	T	3: 93,378,336 (GRCm39)	Q347*	probably null	Het
Tecrl	A	T	5: 83,502,605 (GRCm39)		probably benign	Het
Tepsin	T	C	11: 119,984,508 (GRCm39)		probably benign	Het
Tmem40	G	A	6: 115,710,946 (GRCm39)		probably benign	Het
Tpr	G	A	1: 150,283,165 (GRCm39)		probably benign	Het
Ttll12	A	T	15: 83,464,859 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,739,952 (GRCm39)	D3529V	probably benign	Het
Usp34	T	A	11: 23,283,838 (GRCm39)	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,476,526 (GRCm39)	S327T	probably benign	Het
Zbtb4	T	A	11: 69,668,465 (GRCm39)	M396K	probably damaging	Het
Zfp352	C	T	4: 90,113,246 (GRCm39)	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,307,189 (GRCm39)	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,671,114 (GRCm39)	V65F	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
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
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'- TGCAGTGGTGATTCTTAGCAGCTTC -3'
(R):5'- CCTCATGGCAAGAGCTATGCAGTG -3'

Sequencing Primer
(F):5'- GTGATTCTTAGCAGCTTCTCTCC -3'
(R):5'- ccaaagtttacatagcatctagcc -3'

Posted On

2013-05-09