Incidental Mutation 'R2031:Prkg2'
ID 221219
Institutional Source Beutler Lab
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Name protein kinase, cGMP-dependent, type II
Synonyms cGK-II, Prkgr2
MMRRC Submission 040038-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R2031 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 99077632-99185042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99172310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 135 (D135G)
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: D135G

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: D135G

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 noncoding transcript
Transcript: ENSMUST00000160819
Predicted Effect probably benign
Transcript: ENSMUST00000161490
AA Change: D135G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: D135G

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 0.0713 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (55/56)
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
Adam1b G T 5: 121,639,118 (GRCm39) N642K possibly damaging Het
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Aoc1l1 T C 6: 48,952,789 (GRCm39) V238A probably damaging Het
Arhgap28 G T 17: 68,203,111 (GRCm39) T114N probably damaging Het
Arid5b A G 10: 68,114,518 (GRCm39) probably null Het
Atp10a T A 7: 58,477,678 (GRCm39) C1292* probably null Het
Casp4 A G 9: 5,321,401 (GRCm39) S51G probably benign Het
Cast T C 13: 74,946,771 (GRCm39) probably null Het
Ccdc87 T C 19: 4,891,715 (GRCm39) F736L probably damaging Het
Cdon T C 9: 35,415,370 (GRCm39) S1203P probably damaging Het
Cep290 G A 10: 100,348,262 (GRCm39) probably null Het
Cep85 A G 4: 133,859,761 (GRCm39) V634A probably benign Het
Cpeb3 C T 19: 37,022,079 (GRCm39) R589H probably damaging Het
Crebrf T G 17: 26,961,895 (GRCm39) S331A probably damaging Het
Cul5 A G 9: 53,578,480 (GRCm39) V36A probably benign Het
Dock2 T A 11: 34,618,297 (GRCm39) probably benign Het
Dstyk G A 1: 132,380,929 (GRCm39) A475T probably damaging Het
Enpp6 C A 8: 47,506,649 (GRCm39) P151Q probably damaging Het
Fan1 A G 7: 64,004,172 (GRCm39) Y765H probably damaging Het
Hsfy2 A T 1: 56,675,476 (GRCm39) S354T probably benign Het
Ifi204 A C 1: 173,580,343 (GRCm39) F389C probably damaging Het
Ikbip T C 10: 90,932,474 (GRCm39) Y373H probably benign Het
Kbtbd11 C A 8: 15,078,021 (GRCm39) P207T possibly damaging Het
Krt73 A C 15: 101,707,199 (GRCm39) probably benign Het
Mfsd6 T A 1: 52,748,013 (GRCm39) Q284L probably benign Het
Mmp1b T A 9: 7,368,607 (GRCm39) D415V possibly damaging Het
Mrc1 A T 2: 14,326,584 (GRCm39) T1161S probably damaging Het
Ms4a18 A G 19: 10,991,014 (GRCm39) S27P probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Mycbp2 G T 14: 103,426,028 (GRCm39) R2366S probably damaging Het
Nfkbia A G 12: 55,537,937 (GRCm39) L172P probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or1d2 A G 11: 74,255,777 (GRCm39) Y94C probably damaging Het
Or2ag15 A G 7: 106,341,105 (GRCm39) F12S probably damaging Het
Or4c107 A G 2: 88,789,643 (GRCm39) T278A probably benign Het
Or51f1e A G 7: 102,747,371 (GRCm39) Y141C probably damaging Het
Or5an10 A T 19: 12,275,740 (GRCm39) V252D probably damaging Het
Or5b112 T C 19: 13,319,770 (GRCm39) L216S probably benign Het
Parvb A T 15: 84,167,036 (GRCm39) Y117F probably benign Het
Plch2 A G 4: 155,127,484 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,047,013 (GRCm39) C769* probably null Het
Plxnc1 G T 10: 94,779,529 (GRCm39) D304E probably benign Het
Ptprb A G 10: 116,153,448 (GRCm39) D635G probably benign Het
Rapgef6 T G 11: 54,443,684 (GRCm39) V89G probably benign Het
Ror2 T A 13: 53,271,366 (GRCm39) T330S probably benign Het
Ros1 A G 10: 51,943,164 (GRCm39) V2050A possibly damaging Het
Serpinb6e T C 13: 34,021,733 (GRCm39) probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Smarca4 T C 9: 21,597,358 (GRCm39) V1371A possibly damaging Het
Syvn1 G A 19: 6,100,560 (GRCm39) R317H probably damaging Het
Tdo2 T A 3: 81,876,812 (GRCm39) D139V probably damaging Het
Tmem130 A G 5: 144,689,236 (GRCm39) V135A possibly damaging Het
Tpr A T 1: 150,317,870 (GRCm39) Q2126L probably benign Het
Txlnb A G 10: 17,706,062 (GRCm39) M324V possibly damaging Het
Ubxn10 A G 4: 138,448,574 (GRCm39) M34T possibly damaging Het
Vmn2r95 T C 17: 18,659,717 (GRCm39) W154R possibly 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
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'- AAAGCTGTAGAATACGAGATACACC -3'
(R):5'- GCAAGTGCATCCAGCTGAAC -3'

Sequencing Primer
(F):5'- TGTAGAATACGAGATACACCTTCTCC -3'
(R):5'- CTGAACAAGCTGCAGGATGTGATC -3'
Posted On 2014-08-25