Incidental Mutation 'R3958:Prkg2'
ID 310798
Institutional Source Beutler Lab
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Name protein kinase, cGMP-dependent, type II
Synonyms cGK-II, Prkgr2
MMRRC Submission 040834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R3958 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 99077632-99185042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99145354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 160 (T160K)
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: T160K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: T160K

DomainStartEndE-ValueType
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: T160K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: T160K

DomainStartEndE-ValueType
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 0.0861 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 100% (37/37)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,652,738 (GRCm39) K266R probably benign Het
Cebpd T C 16: 15,705,327 (GRCm39) S47P possibly damaging Het
Celf4 A G 18: 25,670,811 (GRCm39) M124T probably benign Het
Ckap4 C T 10: 84,364,028 (GRCm39) R345H probably benign Het
Clasp1 T C 1: 118,395,611 (GRCm39) V183A probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etl4 A G 2: 20,344,854 (GRCm39) T53A probably benign Het
Glyat A T 19: 12,617,197 (GRCm39) K16N probably benign Het
Gm6522 T C 3: 106,206,120 (GRCm39) noncoding transcript Het
Grin1 G A 2: 25,203,465 (GRCm39) T182M probably damaging Het
Hcn4 T C 9: 58,751,331 (GRCm39) V319A unknown Het
Hmgcs2 T C 3: 98,204,793 (GRCm39) F317S possibly damaging Het
Hoxd8 C T 2: 74,536,884 (GRCm39) Q18* probably null Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Kmt2d G A 15: 98,753,430 (GRCm39) T141M possibly damaging Het
Lrp1 A G 10: 127,407,827 (GRCm39) S1821P probably benign Het
Neb T C 2: 52,153,641 (GRCm39) E2428G probably damaging Het
Nepn T C 10: 52,276,804 (GRCm39) V119A probably benign Het
Or4k41 G T 2: 111,280,230 (GRCm39) L248F possibly damaging Het
Otogl T C 10: 107,657,786 (GRCm39) D1048G probably damaging Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Ppp6r3 A T 19: 3,546,583 (GRCm39) V305D probably damaging Het
Prmt8 G A 6: 127,709,707 (GRCm39) T51I probably benign Het
Rgl3 T C 9: 21,886,885 (GRCm39) probably benign Het
Sec23ip C G 7: 128,378,574 (GRCm39) T796S probably benign Het
Selp T C 1: 163,953,855 (GRCm39) S52P probably benign Het
Slc44a2 T C 9: 21,259,837 (GRCm39) I615T probably damaging Het
Snap91 T C 9: 86,720,183 (GRCm39) Y118C probably damaging Het
Tmem106b A T 6: 13,081,587 (GRCm39) N165Y probably damaging Het
Ucp3 A G 7: 100,131,946 (GRCm39) T266A probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Utrn T C 10: 12,625,852 (GRCm39) I110V probably damaging Het
Other mutations in Prkg2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTTGCGAAACAGCCCAAAG -3'
(R):5'- CTGACAATTGAATGGCCTGGG -3'

Sequencing Primer
(F):5'- TAGGGGAACTCAAAAATAACCCTGTG -3'
(R):5'- GACAATTGAATGGCCTGGGAATTTTC -3'
Posted On 2015-04-29