Mutagenetix > Incidental Mutation

Incidental Mutation 'R0189:Rock2'

23132

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

038450-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R0189 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

16944896-17037824 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 17009517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020904] [ENSMUST00000220688]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020904

SMART Domains

Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.1%

Validation Efficiency

98% (96/98)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 109,999,479 (GRCm39)	W1459R	probably damaging	Het
Abca9	A	T	11: 110,032,488 (GRCm39)		probably benign	Het
Adam25	T	A	8: 41,208,467 (GRCm39)	C578S	probably damaging	Het
Adam32	T	A	8: 25,412,353 (GRCm39)		probably null	Het
Add1	T	C	5: 34,773,992 (GRCm39)	V67A	probably benign	Het
Aggf1	A	T	13: 95,492,988 (GRCm39)		probably benign	Het
Ahcyl2	A	T	6: 29,891,242 (GRCm39)	I449F	probably benign	Het
Ak6	A	G	13: 100,791,650 (GRCm39)	Y31C	probably damaging	Het
Akap6	T	C	12: 53,188,037 (GRCm39)	V1817A	probably benign	Het
Arhgef17	G	T	7: 100,578,057 (GRCm39)	P964T	probably damaging	Het
Atxn7l3b	A	T	10: 112,764,485 (GRCm39)	L48Q	possibly damaging	Het
Bbs10	T	G	10: 111,136,926 (GRCm39)	S680A	probably damaging	Het
Bcl7c	G	A	7: 127,304,936 (GRCm39)	T164I	probably damaging	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Ccdc110	T	A	8: 46,388,119 (GRCm39)	D25E	probably damaging	Het
Ccdc83	T	A	7: 89,875,891 (GRCm39)	T327S	possibly damaging	Het
Coro1b	T	C	19: 4,203,250 (GRCm39)	Y364H	probably damaging	Het
Cstf3	A	G	2: 104,482,791 (GRCm39)	D313G	probably damaging	Het
Dlgap5	T	A	14: 47,650,432 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,547 (GRCm39)	I83N	probably damaging	Het
Eea1	A	T	10: 95,831,444 (GRCm39)	K178N	possibly damaging	Het
Efr3b	T	A	12: 4,032,925 (GRCm39)	D144V	probably damaging	Het
Gfus	C	A	15: 75,798,827 (GRCm39)	D127Y	probably damaging	Het
Gm1110	T	A	9: 26,794,514 (GRCm39)	E504V	probably null	Het
Got2	T	C	8: 96,614,881 (GRCm39)	H18R	probably benign	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Has2	A	T	15: 56,531,831 (GRCm39)	F295I	probably damaging	Het
Hcn3	T	C	3: 89,056,107 (GRCm39)	D519G	probably damaging	Het
Ino80	T	A	2: 119,210,160 (GRCm39)	D1377V	probably benign	Het
Iqsec3	A	T	6: 121,390,521 (GRCm39)		probably benign	Het
Kif3c	T	A	12: 3,415,989 (GRCm39)	S3R	probably benign	Het
Krt17	A	G	11: 100,151,445 (GRCm39)	I116T	possibly damaging	Het
Lrba	T	C	3: 86,275,816 (GRCm39)	V1728A	probably damaging	Het
Map3k6	G	T	4: 132,974,252 (GRCm39)	V550L	possibly damaging	Het
Mcph1	T	C	8: 18,838,487 (GRCm39)	V803A	probably damaging	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Ms4a20	A	G	19: 11,074,311 (GRCm39)	V207A	possibly damaging	Het
Msh5	T	C	17: 35,248,630 (GRCm39)	E772G	probably null	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndfip2	T	C	14: 105,542,174 (GRCm39)	L308P	probably damaging	Het
Ndufb10	T	C	17: 24,943,209 (GRCm39)	T34A	probably benign	Het
Nipal3	A	T	4: 135,195,829 (GRCm39)	I258N	possibly damaging	Het
Nup54	A	G	5: 92,570,423 (GRCm39)	V328A	probably damaging	Het
Oprm1	T	C	10: 6,739,071 (GRCm39)	V66A	possibly damaging	Het
Or10p21	T	A	10: 128,847,191 (GRCm39)	F12L	possibly damaging	Het
Or51ah3	G	T	7: 103,210,289 (GRCm39)	V202F	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8b56	T	A	9: 38,739,111 (GRCm39)	Y41*	probably null	Het
Or9s14	T	C	1: 92,535,615 (GRCm39)	F19L	probably damaging	Het
Peg12	G	A	7: 62,113,296 (GRCm39)	T267I	unknown	Het
Phf20	A	G	2: 156,145,061 (GRCm39)	S890G	probably benign	Het
Plk2	C	T	13: 110,535,997 (GRCm39)	T567M	probably damaging	Het
Pola2	A	T	19: 5,992,370 (GRCm39)		probably benign	Het
Ppp1r12b	A	G	1: 134,793,514 (GRCm39)		probably null	Het
Prickle1	A	T	15: 93,400,900 (GRCm39)	L528*	probably null	Het
Prpf6	T	A	2: 181,297,250 (GRCm39)	N903K	probably benign	Het
Ptprc	G	A	1: 138,010,453 (GRCm39)	A601V	probably benign	Het
Ranbp1	A	T	16: 18,059,607 (GRCm39)		probably null	Het
Rapgef6	C	T	11: 54,582,075 (GRCm39)	S1334L	probably benign	Het
Rgs2	T	C	1: 143,878,022 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,129,125 (GRCm39)		probably null	Het
Rnf17	A	G	14: 56,719,650 (GRCm39)	S967G	probably null	Het
Rpusd3	C	T	6: 113,392,514 (GRCm39)		probably null	Het
Scgb1b20	G	T	7: 33,072,935 (GRCm39)	V48L	probably benign	Het
Sec16a	T	A	2: 26,314,426 (GRCm39)		probably null	Het
Serpina5	T	A	12: 104,069,589 (GRCm39)	L267H	probably damaging	Het
Slc12a3	C	T	8: 95,082,986 (GRCm39)	H875Y	probably benign	Het
Slc45a4	A	G	15: 73,453,763 (GRCm39)	S745P	probably benign	Het
Sucla2	T	C	14: 73,830,088 (GRCm39)	V375A	probably damaging	Het
Sun2	C	A	15: 79,621,277 (GRCm39)	V213F	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	C	T	6: 7,562,424 (GRCm39)	R129C	probably damaging	Het
Taf6	T	C	5: 138,180,975 (GRCm39)	E202G	probably benign	Het
Tex21	T	A	12: 76,286,307 (GRCm39)	H64L	probably benign	Het
Tgs1	A	G	4: 3,593,620 (GRCm39)	S503G	probably benign	Het
Tmem184c	C	T	8: 78,324,441 (GRCm39)	V350I	possibly damaging	Het
Tnks1bp1	A	G	2: 84,901,273 (GRCm39)	S960G	possibly damaging	Het
Trbc2	T	C	6: 41,525,083 (GRCm39)		probably benign	Het
Tubgcp2	A	T	7: 139,581,518 (GRCm39)		probably benign	Het
Vmn1r39	T	A	6: 66,782,181 (GRCm39)	T46S	probably benign	Het
Vmn1r61	T	C	7: 5,613,699 (GRCm39)	H205R	probably benign	Het
Zdhhc14	T	C	17: 5,775,539 (GRCm39)	S264P	possibly damaging	Het
Zfp101	T	A	17: 33,601,213 (GRCm39)	H181L	possibly damaging	Het

Other mutations in Rock2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4776:Rock2	UTSW	12	17,027,741 (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'- TGCATTGCTGTAACCTGGGGTTT -3'
(R):5'- CCAGCATACCAAGGACTGCCTCT -3'

Sequencing Primer
(F):5'- tccaccctctcacacaaac -3'
(R):5'- tagctgtcctcagacacacc -3'

Posted On

2013-04-16