Incidental Mutation 'IGL02060:Prkg2'
ID185370
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 #IGL02060
Quality Score
Status
Chromosome5
Chromosomal Location98929773-99037351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99024515 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 114 (S114P)
Ref Sequence ENSEMBL: ENSMUSP00000031277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490]
Predicted Effect probably benign
Transcript: ENSMUST00000031277
AA Change: S114P

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: S114P

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: S114P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: S114P

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,055,715 I178F probably damaging Het
Aff1 T C 5: 103,783,849 V111A possibly damaging Het
Aox1 T G 1: 58,097,955 I1168R possibly damaging Het
Atf6 T C 1: 170,819,420 R295G probably damaging Het
Blm C A 7: 80,514,580 probably benign Het
Cse1l A T 2: 166,930,653 L413F probably damaging Het
Dip2c T C 13: 9,622,630 V1024A probably damaging Het
Fam13c A T 10: 70,553,141 E498V probably damaging Het
Fat4 A G 3: 39,010,271 E4792G probably damaging Het
Gm5065 A G 7: 5,359,564 T65A probably damaging Het
Gm5724 T A 6: 141,754,408 M133L probably benign Het
Gramd1a A T 7: 31,130,571 L151* probably null Het
Igbp1b G T 6: 138,657,984 A154E probably damaging Het
Itga9 A G 9: 118,661,432 K277R probably damaging Het
Klra10 T C 6: 130,272,725 Y199C probably damaging Het
Mospd3 T C 5: 137,600,004 Y85C probably damaging Het
Nol6 C T 4: 41,117,700 A887T probably damaging Het
Olfr1006 C T 2: 85,674,834 V106I probably benign Het
Olfr1197 A T 2: 88,729,563 F12Y probably damaging Het
Olfr1427 A G 19: 12,099,460 Y60H probably damaging Het
Olfr480 G T 7: 108,066,671 F42L probably benign Het
Pcdhb17 A G 18: 37,486,416 T420A probably damaging Het
Pgghg T C 7: 140,946,633 V646A probably benign Het
Rela G T 19: 5,638,600 K28N probably damaging Het
Rhbdf2 G T 11: 116,600,626 A598E probably damaging Het
Ryr2 C T 13: 11,747,564 D1454N probably damaging Het
Sdk1 C T 5: 141,953,012 L397F possibly damaging Het
Sh3pxd2a C T 19: 47,373,378 probably benign Het
Slc9a2 T A 1: 40,756,293 V518E probably damaging Het
Snapc1 A G 12: 73,968,036 Y105C probably damaging Het
Sult2a8 A G 7: 14,425,401 S98P probably damaging Het
Tmem30c T A 16: 57,290,898 M4L probably benign Het
Trim71 T C 9: 114,513,253 I654V possibly damaging Het
Uroc1 A G 6: 90,338,255 S133G probably benign Het
Vmn2r100 A G 17: 19,521,254 N76S possibly damaging Het
Zcchc14 T C 8: 121,603,895 S910G probably damaging 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
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 On2014-05-07