Incidental Mutation 'R4694:Rock1'
ID 355591
Institutional Source Beutler Lab
Gene Symbol Rock1
Ensembl Gene ENSMUSG00000024290
Gene Name Rho-associated coiled-coil containing protein kinase 1
Synonyms 1110055K06Rik, Rock-I
MMRRC Submission 041945-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R4694 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 10064401-10182045 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 10136152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 178 (Y178*)
Ref Sequence ENSEMBL: ENSMUSP00000069549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067947]
AlphaFold P70335
Predicted Effect probably null
Transcript: ENSMUST00000067947
AA Change: Y178*
SMART Domains Protein: ENSMUSP00000069549
Gene: ENSMUSG00000024290
AA Change: Y178*

DomainStartEndE-ValueType
S_TKc 76 338 4.07e-97 SMART
S_TK_X 341 401 4.02e-9 SMART
low complexity region 408 419 N/A INTRINSIC
PDB:3O0Z|D 535 700 1e-101 PDB
low complexity region 715 731 N/A INTRINSIC
PDB:4L2W|B 832 914 7e-28 PDB
Pfam:Rho_Binding 948 1014 4.3e-26 PFAM
PH 1119 1319 1.19e-6 SMART
C1 1229 1283 2.64e-10 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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 serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have open eyes at birth, omphalocele and most die soon after birth as a result of cannibalization by the mom. Survivors develop inflammation of the eyelid. Another homozygous mutant shows partial lethality around implantation and reduced cardiac fibrosis after pressure overload. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hcfc2 C T 10: 82,559,534 (GRCm39) T382M probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Hnrnpa2b1 A T 6: 51,441,163 (GRCm39) D302E probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Kcp G A 6: 29,493,196 (GRCm39) T838I probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Pgrmc2 T C 3: 41,024,840 (GRCm39) D144G probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Sncaip A C 18: 53,039,629 (GRCm39) T548P probably benign Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E probably benign Het
Other mutations in Rock1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Rock1 APN 18 10,080,502 (GRCm39) missense probably benign 0.44
IGL01535:Rock1 APN 18 10,132,119 (GRCm39) splice site probably benign
IGL01751:Rock1 APN 18 10,079,113 (GRCm39) critical splice donor site probably null
IGL01752:Rock1 APN 18 10,079,113 (GRCm39) critical splice donor site probably null
IGL02318:Rock1 APN 18 10,104,323 (GRCm39) splice site probably benign
IGL02420:Rock1 APN 18 10,070,619 (GRCm39) splice site probably null
IGL03030:Rock1 APN 18 10,070,215 (GRCm39) splice site probably benign
IGL03339:Rock1 APN 18 10,097,493 (GRCm39) missense probably benign 0.00
R0010:Rock1 UTSW 18 10,084,380 (GRCm39) missense probably damaging 0.99
R0010:Rock1 UTSW 18 10,084,380 (GRCm39) missense probably damaging 0.99
R0041:Rock1 UTSW 18 10,140,240 (GRCm39) missense probably damaging 1.00
R0041:Rock1 UTSW 18 10,140,240 (GRCm39) missense probably damaging 1.00
R0480:Rock1 UTSW 18 10,079,120 (GRCm39) missense possibly damaging 0.92
R0538:Rock1 UTSW 18 10,132,227 (GRCm39) missense possibly damaging 0.53
R0719:Rock1 UTSW 18 10,099,328 (GRCm39) missense probably damaging 1.00
R1033:Rock1 UTSW 18 10,067,535 (GRCm39) missense probably benign 0.12
R1448:Rock1 UTSW 18 10,070,233 (GRCm39) missense probably damaging 1.00
R1465:Rock1 UTSW 18 10,072,863 (GRCm39) missense possibly damaging 0.80
R1465:Rock1 UTSW 18 10,072,863 (GRCm39) missense possibly damaging 0.80
R1470:Rock1 UTSW 18 10,136,091 (GRCm39) splice site probably null
R1470:Rock1 UTSW 18 10,136,091 (GRCm39) splice site probably null
R1694:Rock1 UTSW 18 10,136,094 (GRCm39) critical splice donor site probably null
R1862:Rock1 UTSW 18 10,079,207 (GRCm39) missense probably damaging 0.99
R1995:Rock1 UTSW 18 10,101,026 (GRCm39) nonsense probably null
R2177:Rock1 UTSW 18 10,070,263 (GRCm39) missense probably benign 0.18
R2892:Rock1 UTSW 18 10,072,863 (GRCm39) nonsense probably null
R3780:Rock1 UTSW 18 10,067,575 (GRCm39) missense probably benign 0.00
R3884:Rock1 UTSW 18 10,122,768 (GRCm39) missense probably damaging 1.00
R4352:Rock1 UTSW 18 10,079,237 (GRCm39) missense probably damaging 1.00
R4414:Rock1 UTSW 18 10,080,514 (GRCm39) missense probably damaging 1.00
R4646:Rock1 UTSW 18 10,112,391 (GRCm39) missense probably benign
R4888:Rock1 UTSW 18 10,122,698 (GRCm39) missense probably benign 0.06
R5085:Rock1 UTSW 18 10,140,210 (GRCm39) missense probably damaging 1.00
R5884:Rock1 UTSW 18 10,099,361 (GRCm39) missense probably benign 0.03
R5927:Rock1 UTSW 18 10,116,792 (GRCm39) missense probably damaging 1.00
R6084:Rock1 UTSW 18 10,101,007 (GRCm39) missense probably benign 0.15
R6151:Rock1 UTSW 18 10,106,426 (GRCm39) missense possibly damaging 0.79
R6360:Rock1 UTSW 18 10,116,778 (GRCm39) missense possibly damaging 0.52
R6892:Rock1 UTSW 18 10,122,612 (GRCm39) missense probably benign 0.00
R7313:Rock1 UTSW 18 10,129,317 (GRCm39) missense possibly damaging 0.73
R7397:Rock1 UTSW 18 10,097,599 (GRCm39) missense possibly damaging 0.80
R7488:Rock1 UTSW 18 10,122,762 (GRCm39) missense probably damaging 1.00
R7515:Rock1 UTSW 18 10,067,631 (GRCm39) missense probably damaging 0.97
R7567:Rock1 UTSW 18 10,090,820 (GRCm39) missense probably benign 0.35
R7569:Rock1 UTSW 18 10,140,194 (GRCm39) missense probably damaging 1.00
R7639:Rock1 UTSW 18 10,140,244 (GRCm39) missense probably damaging 1.00
R7836:Rock1 UTSW 18 10,097,651 (GRCm39) splice site probably null
R7844:Rock1 UTSW 18 10,104,173 (GRCm39) missense probably damaging 0.99
R7943:Rock1 UTSW 18 10,112,357 (GRCm39) missense probably damaging 1.00
R7945:Rock1 UTSW 18 10,116,831 (GRCm39) missense probably damaging 1.00
R8421:Rock1 UTSW 18 10,072,863 (GRCm39) nonsense probably null
R8801:Rock1 UTSW 18 10,070,260 (GRCm39) missense probably damaging 1.00
R8819:Rock1 UTSW 18 10,070,626 (GRCm39) missense probably damaging 1.00
R9281:Rock1 UTSW 18 10,080,479 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATGCCATCTGTGTTACAGGG -3'
(R):5'- GCTATTCTACAGTTAAACCGTTTCC -3'

Sequencing Primer
(F):5'- TGTGTTACAGGGAGGAAATTATTTAG -3'
(R):5'- TGATGGAGTACATGCCTG -3'
Posted On 2015-10-21