Incidental Mutation 'R0044:Prkg2'
ID 15649
Institutional Source Beutler Lab
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Name protein kinase, cGMP-dependent, type II
Synonyms Prkgr2, cGK-II
MMRRC Submission 038338-MU
Accession Numbers

NCBI RefSeq: NM_008926.4; MGI: 108173
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R0044 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 98929773-99037351 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98973130 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 411 (D411Y)
Ref Sequence ENSEMBL: ENSMUSP00000031277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031277
AA Change: D411Y

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: D411Y

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: D411Y

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: D411Y

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 0.1076 question?
Coding Region Coverage
  • 1x: 79.0%
  • 3x: 68.4%
  • 10x: 42.5%
  • 20x: 22.8%
Validation Efficiency 98% (58/59)
MGI Phenotype Strain: 24494704
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,146,186 probably benign Het
Adcy2 A G 13: 68,727,899 S495P possibly damaging Het
Asxl1 C T 2: 153,400,209 T893I probably benign Het
Bpifb2 C T 2: 153,882,679 probably benign Het
Cdk5rap2 A T 4: 70,360,901 L190H probably damaging Het
Cpsf1 A G 15: 76,599,553 V830A probably benign Het
Degs2 T C 12: 108,692,154 N189D probably damaging Het
Dido1 C T 2: 180,661,819 A1431T probably damaging Het
Diras1 G T 10: 81,022,138 S93* probably null Het
Emc3 C G 6: 113,531,383 V34L probably benign Het
Gbe1 T A 16: 70,561,132 Y681* probably null Het
Herc1 T A 9: 66,448,175 M2236K probably benign Het
Hmcn2 A T 2: 31,412,508 Y2948F probably damaging Het
Kif1b A G 4: 149,263,601 probably benign Het
Lrp2 T A 2: 69,527,555 I377F probably damaging Het
Mavs C A 2: 131,242,024 T147N probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Ogdhl T C 14: 32,339,328 V492A possibly damaging Het
Parvg A G 15: 84,337,882 E323G probably benign Het
Pgm2l1 A G 7: 100,250,332 N51S probably benign Het
Plppr5 T A 3: 117,671,889 probably null Het
Prkcg A T 7: 3,315,001 probably benign Het
Ptprd A G 4: 76,086,329 V63A probably benign Het
Raf1 T A 6: 115,623,515 D10V probably benign Het
Rrm2b A G 15: 37,953,688 S39P possibly damaging Het
Scn5a A G 9: 119,492,047 probably null Het
Spata24 A G 18: 35,656,834 S167P probably damaging Het
Spock3 C T 8: 63,144,007 T115I possibly damaging Het
Tnfaip3 C A 10: 19,011,626 M50I probably damaging Het
Ubr2 A G 17: 46,992,985 probably benign Het
Ubr4 T C 4: 139,437,058 probably benign Het
Xkr9 G A 1: 13,684,062 W93* probably null Het
Other mutations in Prkg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Prkg2 APN 5 99024541 missense probably benign 0.00
IGL01063:Prkg2 APN 5 98969936 critical splice donor site probably null
IGL02060:Prkg2 APN 5 99024515 missense probably benign 0.32
IGL02666:Prkg2 APN 5 98997519 splice site probably benign
IGL02992:Prkg2 APN 5 99024506 missense probably benign
IGL03040:Prkg2 APN 5 98973107 critical splice donor site probably null
devito UTSW 5 98966510 critical splice donor site probably null
Goldwyn UTSW 5 98942208 missense possibly damaging 0.86
kilmer UTSW 5 98947474 missense probably damaging 1.00
Pulp UTSW 5 98976462 missense possibly damaging 0.92
travolta UTSW 5 98969980 missense probably damaging 1.00
P0005:Prkg2 UTSW 5 98969947 missense probably damaging 1.00
R0044:Prkg2 UTSW 5 98973130 missense probably damaging 0.98
R0115:Prkg2 UTSW 5 98994655 splice site probably null
R0403:Prkg2 UTSW 5 98994645 missense possibly damaging 0.95
R0452:Prkg2 UTSW 5 98997520 splice site probably benign
R0481:Prkg2 UTSW 5 98994655 splice site probably null
R1194:Prkg2 UTSW 5 98971926 missense probably benign 0.00
R1534:Prkg2 UTSW 5 98994561 missense probably damaging 1.00
R1861:Prkg2 UTSW 5 98947416 missense probably damaging 1.00
R2010:Prkg2 UTSW 5 99024805 missense probably benign
R2031:Prkg2 UTSW 5 99024451 missense possibly damaging 0.85
R2176:Prkg2 UTSW 5 98966509 splice site probably benign
R3607:Prkg2 UTSW 5 98947377 missense probably damaging 1.00
R3958:Prkg2 UTSW 5 98997495 missense possibly damaging 0.84
R3960:Prkg2 UTSW 5 98997495 missense possibly damaging 0.84
R4012:Prkg2 UTSW 5 98979815 missense possibly damaging 0.93
R4794:Prkg2 UTSW 5 98966633 missense probably damaging 1.00
R4840:Prkg2 UTSW 5 98981143 missense probably benign 0.03
R4867:Prkg2 UTSW 5 99024709 missense probably benign 0.21
R5182:Prkg2 UTSW 5 99024709 missense probably benign 0.21
R5226:Prkg2 UTSW 5 98976462 missense possibly damaging 0.92
R5274:Prkg2 UTSW 5 98969991 missense probably damaging 1.00
R5416:Prkg2 UTSW 5 98943467 missense probably benign 0.05
R5531:Prkg2 UTSW 5 98967734 missense probably damaging 1.00
R5619:Prkg2 UTSW 5 98988297 missense probably damaging 1.00
R6264:Prkg2 UTSW 5 98934364 missense probably benign 0.22
R6925:Prkg2 UTSW 5 98966510 critical splice donor site probably null
R7971:Prkg2 UTSW 5 98932014 missense probably damaging 1.00
R8210:Prkg2 UTSW 5 98966534 missense probably damaging 1.00
R8788:Prkg2 UTSW 5 98969980 missense probably damaging 1.00
R8824:Prkg2 UTSW 5 98942208 missense possibly damaging 0.86
R8825:Prkg2 UTSW 5 98942184 missense probably benign 0.02
R8932:Prkg2 UTSW 5 98947440 missense possibly damaging 0.80
R8950:Prkg2 UTSW 5 98971956 missense possibly damaging 0.54
R9026:Prkg2 UTSW 5 98966527 missense probably benign
R9210:Prkg2 UTSW 5 98947474 missense probably damaging 1.00
R9363:Prkg2 UTSW 5 99024398 missense probably benign 0.30
R9627:Prkg2 UTSW 5 98932010 makesense probably null
Z1088:Prkg2 UTSW 5 99024804 missense probably benign 0.00
Posted On 2012-12-21