Incidental Mutation 'IGL03198:Rock2'
ID412882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rock2
Ensembl Gene ENSMUSG00000020580
Gene NameRho-associated coiled-coil containing protein kinase 2
SynonymsB230113H15Rik, ROKalpha, Rho-kinase, Rock-II, Rock2m
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.815) question?
Stock #IGL03198
Quality Score
Status
Chromosome12
Chromosomal Location16894895-16987823 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16975507 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 1243 (D1243G)
Ref Sequence ENSEMBL: ENSMUSP00000152813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020904] [ENSMUST00000220688]
Predicted Effect probably benign
Transcript: ENSMUST00000020904
AA Change: D1186G

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580
AA Change: D1186G

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
S_TKc 92 354 9.2e-96 SMART
S_TK_X 357 417 3.24e-13 SMART
PDB:3O0Z|D 552 717 4e-46 PDB
low complexity region 723 743 N/A INTRINSIC
low complexity region 882 909 N/A INTRINSIC
low complexity region 939 954 N/A INTRINSIC
Pfam:Rho_Binding 978 1046 4.7e-28 PFAM
coiled coil region 1054 1126 N/A INTRINSIC
PH 1151 1351 2.88e-5 SMART
C1 1261 1315 2.21e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220688
AA Change: D1243G

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect unknown
Transcript: ENSMUST00000221463
AA Change: D59G
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this genes tend to die before birth; those that survive are small. Hemorrhaging occurs in the placenta, at the tips of hind limb buds and occasionally the tail. Subsequent development is normal and the size deficit is made up. They are fertile as adults. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,549,952 probably benign Het
Atp6v0a2 T C 5: 124,712,361 probably null Het
Brca1 G T 11: 101,512,711 probably benign Het
Cd55 A T 1: 130,440,371 C372S probably benign Het
Clip2 A T 5: 134,498,082 probably benign Het
Dgkb A G 12: 38,136,616 N262D probably damaging Het
Fam227b C T 2: 126,124,579 probably null Het
Foxj2 G A 6: 122,833,007 probably null Het
Gm4297 T A X: 24,552,571 probably benign Het
Grik3 A G 4: 125,659,762 D429G probably benign Het
Hcfc1 T C X: 73,951,329 I924V possibly damaging Het
Lrrk1 A G 7: 66,306,894 V411A probably damaging Het
Mdh1 A T 11: 21,564,168 V83E probably damaging Het
Pa2g4 A G 10: 128,565,778 V17A probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Polg A G 7: 79,451,722 V1079A probably damaging Het
Polr2a G T 11: 69,747,281 probably null Het
Ptk2 C T 15: 73,236,216 S722N probably damaging Het
Sirt4 T C 5: 115,483,002 D37G probably benign Het
Slc35d1 T C 4: 103,184,888 Y249C probably damaging Het
Snrnp27 A T 6: 86,682,986 probably null Het
Srek1 T C 13: 103,744,935 probably null Het
Sspo A T 6: 48,477,582 I2951F probably benign Het
Stxbp3 A G 3: 108,827,089 F40L probably damaging Het
Sympk T C 7: 19,044,996 V604A possibly damaging Het
Tbc1d2b T C 9: 90,222,457 Y544C probably damaging Het
Tnpo2 C T 8: 85,051,718 T592I possibly damaging Het
Txndc16 T C 14: 45,151,484 probably benign Het
Ubr5 A T 15: 38,045,720 L120Q probably damaging Het
Wdfy4 A T 14: 33,125,887 M836K probably damaging Het
Wdr48 A G 9: 119,912,413 N141S probably benign Het
Zc3h7a A T 16: 11,162,664 Y28* probably null Het
Zfp423 T C 8: 87,781,676 D659G possibly damaging Het
Other mutations in Rock2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Rock2 APN 12 16978055 missense probably benign 0.11
IGL01565:Rock2 APN 12 16953317 missense possibly damaging 0.62
IGL01637:Rock2 APN 12 16965171 missense probably benign
IGL02164:Rock2 APN 12 16965529 missense probably damaging 1.00
IGL02249:Rock2 APN 12 16971041 unclassified probably benign
IGL02490:Rock2 APN 12 16948563 missense probably damaging 1.00
IGL02815:Rock2 APN 12 16966701 splice site probably benign
IGL02979:Rock2 APN 12 16977940 missense probably benign 0.00
IGL03095:Rock2 APN 12 16953340 missense probably benign 0.00
R0087:Rock2 UTSW 12 16928966 missense probably benign 0.20
R0189:Rock2 UTSW 12 16959516 splice site probably benign
R0282:Rock2 UTSW 12 16977886 splice site probably benign
R0497:Rock2 UTSW 12 16954953 missense probably benign
R1210:Rock2 UTSW 12 16965469 missense probably damaging 0.96
R1347:Rock2 UTSW 12 16977624 missense possibly damaging 0.70
R1347:Rock2 UTSW 12 16977624 missense possibly damaging 0.70
R1616:Rock2 UTSW 12 16972985 missense probably benign 0.03
R1672:Rock2 UTSW 12 16965652 missense probably benign 0.03
R1815:Rock2 UTSW 12 16972726 missense probably benign 0.01
R1840:Rock2 UTSW 12 16928989 missense probably benign
R2349:Rock2 UTSW 12 16977615 missense probably benign 0.07
R3149:Rock2 UTSW 12 16965091 missense probably damaging 1.00
R3979:Rock2 UTSW 12 16972736 missense probably damaging 1.00
R4030:Rock2 UTSW 12 16975479 missense probably damaging 1.00
R4470:Rock2 UTSW 12 16971275 nonsense probably null
R4492:Rock2 UTSW 12 16977683 missense probably damaging 1.00
R4519:Rock2 UTSW 12 16977737 missense probably damaging 1.00
R4776:Rock2 UTSW 12 16977740 missense probably damaging 1.00
R4794:Rock2 UTSW 12 16940407 missense probably damaging 1.00
R4908:Rock2 UTSW 12 16959491 missense probably benign 0.00
R5363:Rock2 UTSW 12 16965654 critical splice donor site probably null
R5574:Rock2 UTSW 12 16961641 missense possibly damaging 0.55
R5595:Rock2 UTSW 12 16942809 missense probably damaging 1.00
R6158:Rock2 UTSW 12 16954918 missense probably benign
R6728:Rock2 UTSW 12 16961736 missense probably benign 0.00
R6828:Rock2 UTSW 12 16942959 splice site probably null
R7019:Rock2 UTSW 12 16977740 missense probably damaging 1.00
R7181:Rock2 UTSW 12 16973143 missense probably benign 0.00
R7236:Rock2 UTSW 12 16929002 missense probably damaging 1.00
R7362:Rock2 UTSW 12 16958421 missense probably damaging 1.00
R7593:Rock2 UTSW 12 16958240 missense probably benign 0.00
R7743:Rock2 UTSW 12 16976047 missense probably damaging 1.00
R7782:Rock2 UTSW 12 16971110 missense probably benign 0.17
R8012:Rock2 UTSW 12 16942742 missense probably damaging 1.00
Posted On2016-08-02