Incidental Mutation 'R5226:Prkg2'
ID 402604
Institutional Source Beutler Lab
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Name protein kinase, cGMP-dependent, type II
Synonyms cGK-II, Prkgr2
MMRRC Submission 042799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R5226 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 99077632-99185042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 99124321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 376 (D376E)
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: D376E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: D376E

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: D376E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: D376E

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 0.1334 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (66/66)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,056,706 (GRCm39) K98E possibly damaging Het
4933414I15Rik A T 11: 50,833,416 (GRCm39) M62K unknown Het
Akr1d1 T A 6: 37,512,949 (GRCm39) probably null Het
Ankrd63 T C 2: 118,533,736 (GRCm39) probably benign Het
Atad5 T C 11: 79,985,888 (GRCm39) V325A probably damaging Het
Atp13a5 G T 16: 29,067,031 (GRCm39) N1025K probably damaging Het
Atrnl1 G T 19: 57,638,767 (GRCm39) V302L probably benign Het
Bend7 C A 2: 4,757,789 (GRCm39) S277* probably null Het
Btnl7-ps A T 17: 34,752,261 (GRCm39) noncoding transcript Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ctla2b C T 13: 61,044,146 (GRCm39) W63* probably null Het
Cux1 T C 5: 136,399,027 (GRCm39) T170A probably benign Het
Cyp3a57 T C 5: 145,302,507 (GRCm39) V101A probably benign Het
Dao A T 5: 114,159,094 (GRCm39) T267S probably benign Het
Dsp A G 13: 38,370,746 (GRCm39) D883G probably damaging Het
Dynlt4 A G 4: 116,985,290 (GRCm39) T38A possibly damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Elf3 G A 1: 135,184,977 (GRCm39) L70F probably benign Het
Epb41l4a C T 18: 33,943,366 (GRCm39) D510N probably damaging Het
Gcn1 T C 5: 115,726,126 (GRCm39) S594P probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gpr132 T C 12: 112,815,768 (GRCm39) T353A probably benign Het
Kntc1 A G 5: 123,932,235 (GRCm39) D1343G probably benign Het
L3mbtl4 T A 17: 69,071,717 (GRCm39) probably null Het
Lrit2 A G 14: 36,794,310 (GRCm39) E458G probably damaging Het
Man1c1 A T 4: 134,305,680 (GRCm39) I348N probably damaging Het
Map4k2 A G 19: 6,396,534 (GRCm39) probably benign Het
Nt5c2 A C 19: 46,887,068 (GRCm39) Y203D probably damaging Het
Oxgr1 A G 14: 120,259,665 (GRCm39) S181P probably damaging Het
Parn A G 16: 13,443,416 (GRCm39) C400R probably benign Het
Pcdhgb7 T C 18: 37,885,577 (GRCm39) V249A probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plcg2 A T 8: 118,304,613 (GRCm39) I273F possibly damaging Het
Plin1 A G 7: 79,372,447 (GRCm39) V64A probably damaging Het
Ppfia4 C A 1: 134,232,024 (GRCm39) probably null Het
Ptgir T A 7: 16,642,645 (GRCm39) I82N probably damaging Het
Pum2 C T 12: 8,763,458 (GRCm39) P205L possibly damaging Het
Rab26 T A 17: 24,753,107 (GRCm39) probably benign Het
Recql4 T C 15: 76,594,329 (GRCm39) E63G probably benign Het
Rora T A 9: 69,271,423 (GRCm39) probably benign Het
Rp1 A C 1: 4,418,256 (GRCm39) M952R probably benign Het
Rpap3 T A 15: 97,601,104 (GRCm39) R44S possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a2 C A 18: 58,012,092 (GRCm39) P72T probably damaging Het
Slc1a3 C T 15: 8,671,709 (GRCm39) V416M probably damaging Het
Slfn4 A T 11: 83,078,375 (GRCm39) M388L possibly damaging Het
Snrnp48 G A 13: 38,389,093 (GRCm39) A49T probably benign Het
Tlx2 C T 6: 83,045,911 (GRCm39) G228D possibly damaging Het
Tmem132a A G 19: 10,844,508 (GRCm39) V30A possibly damaging Het
Tnfrsf23 C A 7: 143,239,522 (GRCm39) L24F possibly damaging Het
Ubr2 A T 17: 47,294,196 (GRCm39) N312K probably benign Het
Vmn1r115 C T 7: 20,578,169 (GRCm39) V248I probably damaging Het
Vmn2r80 A G 10: 79,029,874 (GRCm39) T567A probably benign Het
Vps13c A G 9: 67,852,835 (GRCm39) T2372A probably benign Het
Wnt10b G T 15: 98,674,495 (GRCm39) H81N probably damaging Het
Zfp948 A G 17: 21,808,505 (GRCm39) T566A probably benign 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
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
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'- ATTTAGCCTGCCAGCATCTG -3'
(R):5'- CCCACTGTAGTCTTTGGATGG -3'

Sequencing Primer
(F):5'- CCTGCTCATGAATTTTAATGGCG -3'
(R):5'- CCCACTGTAGTCTTTGGATGGTTTAG -3'
Posted On 2016-07-22