Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Prkg2'

376222

Institutional Source

Beutler Lab

Gene Symbol

Prkg2

Ensembl Gene

ENSMUSG00000029334

Gene Name

protein kinase, cGMP-dependent, type II

Synonyms

cGK-II, Prkgr2

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

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

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99077632-99185042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99172568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 49 (Y49F)

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: Y49F

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: Y49F

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

noncoding transcript
Transcript: ENSMUST00000160819

Predicted Effect

probably benign
Transcript: ENSMUST00000161490
AA Change: Y49F

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: Y49F

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

0.0668

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	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
R4840:Prkg2	UTSW	5	99,129,002 (GRCm39)	missense	probably benign	0.03
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'- CATCCAGAGGCACTTTGTCG -3'
(R):5'- CTGTTTATGAAGCAGACTGGGAAG -3'

Sequencing Primer
(F):5'- ACTTTGTCGGGAGAGGCC -3'
(R):5'- TGGAACTCCACATGCTCACTG -3'

Posted On

2016-03-17