Incidental Mutation 'IGL00420:Prkg2'
ID5582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Nameprotein kinase, cGMP-dependent, type II
SynonymsPrkgr2, cGK-II
Accession Numbers

NCBI RefSeq: NM_008926.4; MGI: 108173

Is this an essential gene? Probably non essential (E-score: 0.212) question?
Stock #IGL00420
Quality Score
Status
Chromosome5
Chromosomal Location98929773-99037351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99024541 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000031277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490]
Predicted Effect probably benign
Transcript: ENSMUST00000031277
AA Change: V105A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: V105A

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: V105A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: V105A

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
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,777,602 S170T probably benign Het
Cep55 C A 19: 38,073,439 Q443K probably damaging Het
Ces1c T C 8: 93,106,673 E388G probably benign Het
Chd9 T C 8: 91,025,392 S1753P possibly damaging Het
Cse1l T A 2: 166,927,804 I343N probably damaging Het
Ctif T G 18: 75,437,176 M551L possibly damaging Het
Cyp2c29 A G 19: 39,321,699 probably benign Het
Filip1 G A 9: 79,817,944 T1131I probably damaging Het
Gm13941 G A 2: 111,091,848 probably benign Het
Klc3 T C 7: 19,396,295 E319G possibly damaging Het
Lonrf1 T C 8: 36,230,077 probably benign Het
Lrba A G 3: 86,359,782 E1593G probably benign Het
Mroh5 G A 15: 73,792,789 probably benign Het
Mthfr T A 4: 148,041,270 M20K probably benign Het
Nsd2 C A 5: 33,883,003 N960K possibly damaging Het
Osgin1 T A 8: 119,445,046 V193E probably damaging Het
Pced1a A T 2: 130,419,178 C420S probably benign Het
Pkd2l1 C T 19: 44,157,636 probably null Het
Plekhg5 C A 4: 152,102,041 probably null Het
Rab11fip3 A G 17: 26,067,625 I518T probably benign Het
Rapgef5 T A 12: 117,714,182 V150D probably damaging Het
Sema4c A G 1: 36,553,920 probably benign Het
Slc27a2 A G 2: 126,580,917 E354G probably damaging Het
Slc28a3 A T 13: 58,574,300 L257I probably benign Het
Slc2a8 G T 2: 32,973,624 Q469K probably damaging Het
Slc44a1 T C 4: 53,553,550 V519A possibly damaging Het
Slco6d1 A G 1: 98,432,230 probably null Het
Strap T C 6: 137,745,523 S219P probably damaging Het
Tjp1 T C 7: 65,301,219 I1636V probably benign Het
Tle1 G A 4: 72,169,118 R126C possibly damaging Het
Traf3 T A 12: 111,239,067 I94N probably damaging Het
Trps1 G T 15: 50,846,870 T28K probably benign Het
Unc13c T A 9: 73,736,703 T1160S probably damaging Het
Vapb G A 2: 173,778,171 V228M probably benign Het
Wdr3 A T 3: 100,148,108 D506E probably damaging Het
Zfp119a A T 17: 55,865,792 C350* probably null Het
Zfp51 A T 17: 21,463,452 M110L probably benign Het
Zfp687 G A 3: 95,012,416 A15V probably damaging Het
Zkscan6 A G 11: 65,828,461 T436A possibly damaging Het
Other mutations in Prkg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
P0005:Prkg2 UTSW 5 98969947 missense probably damaging 1.00
R0044:Prkg2 UTSW 5 98973130 missense probably damaging 0.98
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
Z1088:Prkg2 UTSW 5 99024804 missense probably benign 0.00
Posted On2012-04-20