Incidental Mutation 'IGL02666:Prkg2'
ID 302763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Name protein kinase, cGMP-dependent, type II
Synonyms cGK-II, Prkgr2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL02666
Quality Score
Status
Chromosome 5
Chromosomal Location 99077632-99185042 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 99145378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031277
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334

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
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334

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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,944 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,934,431 (GRCm39) V136M probably damaging Het
Abhd3 A G 18: 10,645,148 (GRCm39) I382T probably benign Het
Cux1 C A 5: 136,304,169 (GRCm39) E1336* probably null Het
Cyb5r3 T C 15: 83,044,554 (GRCm39) I155V probably damaging Het
Ddx24 T C 12: 103,390,314 (GRCm39) T226A possibly damaging Het
Dld T C 12: 31,382,408 (GRCm39) N465S probably null Het
Dnmbp A G 19: 43,842,566 (GRCm39) probably benign Het
Dock9 T C 14: 121,818,111 (GRCm39) H1580R probably benign Het
Drd3 C A 16: 43,637,319 (GRCm39) probably benign Het
Gabrb2 G T 11: 42,420,322 (GRCm39) probably null Het
Gbp9 T C 5: 105,242,141 (GRCm39) probably null Het
Inhba A T 13: 16,201,664 (GRCm39) I409F possibly damaging Het
Iqgap2 T C 13: 95,764,564 (GRCm39) N1560S probably damaging Het
Itsn1 A G 16: 91,617,606 (GRCm39) probably benign Het
Kat6b T C 14: 21,678,938 (GRCm39) F434L probably damaging Het
Klra1 A G 6: 130,341,278 (GRCm39) C232R probably damaging Het
Krt18 T A 15: 101,938,302 (GRCm39) I175N probably damaging Het
Lck A G 4: 129,450,212 (GRCm39) V178A probably damaging Het
Mroh4 C A 15: 74,481,624 (GRCm39) G737V probably benign Het
Mug2 A C 6: 122,058,285 (GRCm39) L1282F probably damaging Het
Myo9a A G 9: 59,832,187 (GRCm39) N2572S probably benign Het
Nup88 G T 11: 70,834,695 (GRCm39) probably benign Het
Nxph3 G T 11: 95,401,834 (GRCm39) H193Q possibly damaging Het
Or5b97 G T 19: 12,878,221 (GRCm39) H308N probably benign Het
Orm2 A G 4: 63,283,970 (GRCm39) T198A possibly damaging Het
Pom121 T C 5: 135,415,686 (GRCm39) I397V unknown Het
Prex1 C A 2: 166,414,909 (GRCm39) E1313D probably benign Het
Prl2a1 A T 13: 27,990,310 (GRCm39) K86N possibly damaging Het
Ptpro G A 6: 137,355,057 (GRCm39) S188N probably damaging Het
Ptprz1 A T 6: 23,001,209 (GRCm39) I1100F probably benign Het
Ryr1 C A 7: 28,719,188 (GRCm39) M4406I unknown Het
Sdf4 T A 4: 156,093,281 (GRCm39) Y204* probably null Het
Serinc1 A T 10: 57,400,089 (GRCm39) probably null Het
Slc39a5 C T 10: 128,234,324 (GRCm39) R193H probably damaging Het
Smad9 A G 3: 54,689,888 (GRCm39) K36R probably damaging Het
Spam1 T A 6: 24,796,123 (GRCm39) L25I possibly damaging Het
Stab2 A T 10: 86,686,766 (GRCm39) S809R possibly damaging Het
Szt2 G A 4: 118,231,252 (GRCm39) R35C probably damaging Het
Tcaf2 C A 6: 42,606,058 (GRCm39) probably benign Het
Tfap2d A C 1: 19,174,979 (GRCm39) D144A probably benign Het
Tmprss11d A T 5: 86,479,052 (GRCm39) V117D probably damaging Het
Tnxb A G 17: 34,903,913 (GRCm39) D1141G probably benign Het
Traf6 A T 2: 101,527,512 (GRCm39) T421S possibly damaging Het
Txndc16 G A 14: 45,448,607 (GRCm39) probably benign Het
Utp25 G A 1: 192,789,904 (GRCm39) Q752* probably null Het
Vmn1r73 C A 7: 11,490,865 (GRCm39) P228T probably damaging Het
Vmn2r4 A G 3: 64,296,433 (GRCm39) I784T probably benign Het
Zfp420 A G 7: 29,573,795 (GRCm39) D5G 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
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
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
Posted On 2015-04-16