Incidental Mutation 'IGL03040:Prkg2'
ID408865
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: 0.198) question?
Stock #IGL03040
Quality Score
Status
Chromosome5
Chromosomal Location98929773-99037351 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 98973107 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490]
Predicted Effect probably null
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 null
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930539E08Rik A G 17: 28,915,202 M11T probably benign Het
Abcc9 C A 6: 142,652,597 G672* probably null Het
Adamts19 T A 18: 58,903,008 S422T probably benign Het
Anapc7 T A 5: 122,433,387 L175* probably null Het
Atp13a2 T C 4: 141,006,173 L986P probably damaging Het
Atp6v1d C A 12: 78,857,348 probably benign Het
Cldn5 A G 16: 18,777,630 Y212C probably damaging Het
Dgki C A 6: 37,149,664 probably benign Het
Evi5 A G 5: 107,821,806 S80P probably damaging Het
Extl1 A T 4: 134,360,629 probably benign Het
Fbxo38 T C 18: 62,527,252 H296R probably damaging Het
Fras1 A G 5: 96,710,101 I2085V probably benign Het
Gm8773 C A 5: 5,575,566 Y87* probably null Het
Gpd2 A T 2: 57,355,793 E445V probably benign Het
Grm8 C T 6: 28,126,123 M1I probably null Het
Hnf4g T A 3: 3,634,211 probably benign Het
Hspg2 G A 4: 137,561,825 probably null Het
Kmt2c T C 5: 25,310,352 Q2831R probably benign Het
Nat10 C A 2: 103,757,265 probably benign Het
Pbx1 C A 1: 168,427,946 probably benign Het
Scn10a T A 9: 119,622,985 I1291F probably damaging Het
Sh3tc2 G A 18: 61,989,410 G414D probably benign Het
Syn2 C T 6: 115,263,965 T432I possibly damaging Het
Tnpo1 T C 13: 98,859,955 E446G probably damaging Het
Topbp1 C T 9: 103,328,667 L835F possibly damaging Het
Ubald1 G T 16: 4,875,762 S96R possibly damaging Het
Utp6 C A 11: 79,936,113 probably benign Het
Vmn1r19 C A 6: 57,405,362 P300Q unknown Het
Vmn1r220 T C 13: 23,183,782 D248G possibly damaging Het
Zglp1 T A 9: 21,063,326 S189C 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
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
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 On2016-08-02