Incidental Mutation 'R4776:Rock2'
ID 367957
Institutional Source Beutler Lab
Gene Symbol Rock2
Ensembl Gene ENSMUSG00000020580
Gene Name Rho-associated coiled-coil containing protein kinase 2
Synonyms Rock-II, ROKalpha, B230113H15Rik, Rock2m, Rho-kinase
MMRRC Submission 042413-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.821) question?
Stock # R4776 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 16944896-17037824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17027741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1353 (C1353S)
Ref Sequence ENSEMBL: ENSMUSP00000152813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020904] [ENSMUST00000220688]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020904
AA Change: C1296S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580
AA Change: C1296S

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 damaging
Transcript: ENSMUST00000220688
AA Change: C1353S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Meta Mutation Damage Score 0.9555 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (94/96)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A T 10: 76,293,346 (GRCm39) M156L probably benign Het
4930470P17Rik C T 2: 170,421,644 (GRCm39) A79T unknown Het
4930522L14Rik A G 5: 109,884,739 (GRCm39) I373T probably benign Het
Amotl1 G A 9: 14,504,669 (GRCm39) Q217* probably null Het
Ankrd28 A T 14: 31,454,011 (GRCm39) C254S probably damaging Het
Ap2a1 A G 7: 44,550,970 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,529,995 (GRCm39) S245T probably benign Het
Atp1b2 A T 11: 69,492,387 (GRCm39) D224E probably damaging Het
Bmal1 A T 7: 112,884,244 (GRCm39) K94I probably damaging Het
Boc G A 16: 44,308,084 (GRCm39) R924W probably damaging Het
Btbd8 C A 5: 107,658,317 (GRCm39) A1117E probably damaging Het
Car14 C T 3: 95,806,185 (GRCm39) G292D probably benign Het
Cenpb T C 2: 131,020,103 (GRCm39) probably benign Het
Ces1b A T 8: 93,789,658 (GRCm39) D423E possibly damaging Het
Cfap54 T A 10: 92,808,556 (GRCm39) N1373I possibly damaging Het
Chrdl2 T C 7: 99,655,748 (GRCm39) probably benign Het
Cic T G 7: 24,982,308 (GRCm39) S12A possibly damaging Het
Csmd2 A T 4: 128,336,685 (GRCm39) Q1421L probably benign Het
D630039A03Rik T C 4: 57,910,452 (GRCm39) H120R possibly damaging Het
Dicer1 T A 12: 104,658,705 (GRCm39) D1779V probably damaging Het
Dock9 G T 14: 121,847,509 (GRCm39) H1016N possibly damaging Het
Dxo T C 17: 35,057,974 (GRCm39) L352P probably damaging Het
Eif2b5 T A 16: 20,318,983 (GRCm39) F78I probably damaging Het
Eri2 A G 7: 119,384,169 (GRCm39) probably benign Het
Fbxw7 T G 3: 84,832,996 (GRCm39) L13V possibly damaging Het
Fgf7 T A 2: 125,877,703 (GRCm39) C23* probably null Het
Fubp1 T A 3: 151,927,705 (GRCm39) probably null Het
Gm2663 A T 6: 40,972,887 (GRCm39) I240N probably damaging Het
Gnb1l C T 16: 18,366,846 (GRCm39) Q140* probably null Het
Gnptab G A 10: 88,272,390 (GRCm39) R1010Q probably damaging Het
Gtf2h1 G A 7: 46,472,302 (GRCm39) W544* probably null Het
Gucy2c C T 6: 136,699,512 (GRCm39) E586K probably damaging Het
Hc T A 2: 34,929,746 (GRCm39) E232V probably benign Het
Ifi207 T A 1: 173,557,622 (GRCm39) D372V unknown Het
Igkv8-28 A T 6: 70,121,102 (GRCm39) V15E probably benign Het
Il1rap A G 16: 26,511,549 (GRCm39) S198G possibly damaging Het
Lct A G 1: 128,228,124 (GRCm39) I1123T probably damaging Het
Lhcgr T C 17: 89,050,125 (GRCm39) E467G probably damaging Het
Macf1 C T 4: 123,369,808 (GRCm39) R86K probably benign Het
Maml3 T A 3: 51,763,953 (GRCm39) Q337L probably benign Het
Marchf10 T A 11: 105,280,863 (GRCm39) D474V probably benign Het
Marchf2 G T 17: 33,928,890 (GRCm39) T2K probably damaging Het
Mast1 A G 8: 85,663,822 (GRCm39) probably null Het
Med12l T C 3: 59,140,633 (GRCm39) I868T probably damaging Het
Msrb1 T C 17: 24,959,147 (GRCm39) S100P probably damaging Het
Nlrp4c T C 7: 6,069,125 (GRCm39) L342P probably benign Het
Nrxn3 T A 12: 90,298,730 (GRCm39) V417E possibly damaging Het
Ntng1 T A 3: 109,842,029 (GRCm39) D248V probably damaging Het
Oaz3 T C 3: 94,342,305 (GRCm39) Q117R probably benign Het
Or2a56 A G 6: 42,932,455 (GRCm39) I8V probably benign Het
Or4f58 A G 2: 111,851,276 (GRCm39) Y308H probably benign Het
Or52e2 A G 7: 102,804,621 (GRCm39) L111P probably benign Het
Osbpl3 A C 6: 50,277,953 (GRCm39) S767A probably benign Het
Pafah1b1 A T 11: 74,576,697 (GRCm39) probably benign Het
Pard6b A G 2: 167,940,708 (GRCm39) T232A probably damaging Het
Paxip1 A T 5: 27,970,204 (GRCm39) C596S probably damaging Het
Pnpla6 T C 8: 3,573,818 (GRCm39) V422A probably benign Het
Psmd6 A T 14: 14,120,932 (GRCm38) probably benign Het
Relch T A 1: 105,647,260 (GRCm39) Y683* probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sel1l T A 12: 91,780,667 (GRCm39) H658L probably damaging Het
Sh3yl1 T A 12: 30,990,313 (GRCm39) L105Q probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sirt1 T C 10: 63,171,501 (GRCm39) K227E probably benign Het
Slc25a34 A T 4: 141,350,899 (GRCm39) F37I possibly damaging Het
Slc39a5 T A 10: 128,232,918 (GRCm39) I378F probably damaging Het
Smarcad1 A T 6: 65,075,808 (GRCm39) D731V probably null Het
Sox6 T G 7: 115,140,905 (GRCm39) K483N probably damaging Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Srgap1 G T 10: 121,628,256 (GRCm39) D882E probably benign Het
Syne4 T C 7: 30,016,258 (GRCm39) probably benign Het
Tasor2 A G 13: 3,620,391 (GRCm39) F2170S probably damaging Het
Tec T C 5: 72,926,119 (GRCm39) Y289C probably benign Het
Tmem102 A T 11: 69,695,628 (GRCm39) Y115N probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav17 T A 14: 54,044,097 (GRCm39) M1K probably null Het
Trdn T A 10: 33,275,078 (GRCm39) probably null Het
Trp53 A T 11: 69,477,747 (GRCm39) I8F probably benign Het
Ttn T A 2: 76,585,006 (GRCm39) D22064V probably damaging Het
Ube3c G A 5: 29,837,836 (GRCm39) probably null Het
Ulk1 C T 5: 110,936,813 (GRCm39) probably null Het
Upp1 T C 11: 9,085,976 (GRCm39) V271A probably damaging Het
Vmn2r4 T C 3: 64,296,082 (GRCm39) E901G probably damaging Het
Vmn2r96 G A 17: 18,817,770 (GRCm39) G449D probably damaging Het
Vps37b T C 5: 124,144,675 (GRCm39) K165E probably damaging Het
Vwf A T 6: 125,543,268 (GRCm39) I185F possibly damaging Het
Wasf2 A G 4: 132,912,315 (GRCm39) T56A probably benign Het
Zdhhc23 C G 16: 43,793,952 (GRCm39) D241H possibly damaging Het
Zfp276 T C 8: 123,981,623 (GRCm39) S57P probably benign Het
Zxdc A G 6: 90,347,500 (GRCm39) H287R probably damaging Het
Other mutations in Rock2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Rock2 APN 12 17,028,056 (GRCm39) missense probably benign 0.11
IGL01565:Rock2 APN 12 17,003,318 (GRCm39) missense possibly damaging 0.62
IGL01637:Rock2 APN 12 17,015,172 (GRCm39) missense probably benign
IGL02164:Rock2 APN 12 17,015,530 (GRCm39) missense probably damaging 1.00
IGL02249:Rock2 APN 12 17,021,042 (GRCm39) unclassified probably benign
IGL02490:Rock2 APN 12 16,998,564 (GRCm39) missense probably damaging 1.00
IGL02815:Rock2 APN 12 17,016,702 (GRCm39) splice site probably benign
IGL02979:Rock2 APN 12 17,027,941 (GRCm39) missense probably benign 0.00
IGL03095:Rock2 APN 12 17,003,341 (GRCm39) missense probably benign 0.00
IGL03198:Rock2 APN 12 17,025,508 (GRCm39) missense probably benign 0.27
R0087:Rock2 UTSW 12 16,978,967 (GRCm39) missense probably benign 0.20
R0189:Rock2 UTSW 12 17,009,517 (GRCm39) splice site probably benign
R0282:Rock2 UTSW 12 17,027,887 (GRCm39) splice site probably benign
R0497:Rock2 UTSW 12 17,004,954 (GRCm39) missense probably benign
R1210:Rock2 UTSW 12 17,015,470 (GRCm39) missense probably damaging 0.96
R1347:Rock2 UTSW 12 17,027,625 (GRCm39) missense possibly damaging 0.70
R1347:Rock2 UTSW 12 17,027,625 (GRCm39) missense possibly damaging 0.70
R1616:Rock2 UTSW 12 17,022,986 (GRCm39) missense probably benign 0.03
R1672:Rock2 UTSW 12 17,015,653 (GRCm39) missense probably benign 0.03
R1815:Rock2 UTSW 12 17,022,727 (GRCm39) missense probably benign 0.01
R1840:Rock2 UTSW 12 16,978,990 (GRCm39) missense probably benign
R2349:Rock2 UTSW 12 17,027,616 (GRCm39) missense probably benign 0.07
R3149:Rock2 UTSW 12 17,015,092 (GRCm39) missense probably damaging 1.00
R3979:Rock2 UTSW 12 17,022,737 (GRCm39) missense probably damaging 1.00
R4030:Rock2 UTSW 12 17,025,480 (GRCm39) missense probably damaging 1.00
R4470:Rock2 UTSW 12 17,021,276 (GRCm39) nonsense probably null
R4492:Rock2 UTSW 12 17,027,684 (GRCm39) missense probably damaging 1.00
R4519:Rock2 UTSW 12 17,027,738 (GRCm39) missense probably damaging 1.00
R4794:Rock2 UTSW 12 16,990,408 (GRCm39) missense probably damaging 1.00
R4908:Rock2 UTSW 12 17,009,492 (GRCm39) missense probably benign 0.00
R5363:Rock2 UTSW 12 17,015,655 (GRCm39) critical splice donor site probably null
R5574:Rock2 UTSW 12 17,011,642 (GRCm39) missense possibly damaging 0.55
R5595:Rock2 UTSW 12 16,992,810 (GRCm39) missense probably damaging 1.00
R6158:Rock2 UTSW 12 17,004,919 (GRCm39) missense probably benign
R6728:Rock2 UTSW 12 17,011,737 (GRCm39) missense probably benign 0.00
R6828:Rock2 UTSW 12 16,992,960 (GRCm39) splice site probably null
R7019:Rock2 UTSW 12 17,027,741 (GRCm39) missense probably damaging 1.00
R7181:Rock2 UTSW 12 17,023,144 (GRCm39) missense probably benign 0.00
R7236:Rock2 UTSW 12 16,979,003 (GRCm39) missense probably damaging 1.00
R7362:Rock2 UTSW 12 17,008,422 (GRCm39) missense probably damaging 1.00
R7593:Rock2 UTSW 12 17,008,241 (GRCm39) missense probably benign 0.00
R7743:Rock2 UTSW 12 17,026,048 (GRCm39) missense probably damaging 1.00
R7782:Rock2 UTSW 12 17,021,111 (GRCm39) missense probably benign 0.17
R7935:Rock2 UTSW 12 16,998,558 (GRCm39) missense probably damaging 1.00
R8012:Rock2 UTSW 12 16,992,743 (GRCm39) missense probably damaging 1.00
R8339:Rock2 UTSW 12 17,024,861 (GRCm39) missense probably damaging 0.98
R8809:Rock2 UTSW 12 17,015,655 (GRCm39) critical splice donor site probably benign
R8918:Rock2 UTSW 12 16,990,422 (GRCm39) nonsense probably null
R9198:Rock2 UTSW 12 17,015,557 (GRCm39) missense probably benign
R9449:Rock2 UTSW 12 17,027,763 (GRCm39) missense probably damaging 1.00
R9717:Rock2 UTSW 12 17,015,602 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GTGTTTAGCAGTCACTTTCGTC -3'
(R):5'- ACAACAGATTCTTTGCCGACG -3'

Sequencing Primer
(F):5'- ATTCTATATGCCAATGAAGGAGAAAG -3'
(R):5'- CAGATTCTTTGCCGACGATATATC -3'
Posted On 2015-12-29