Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:Rock2'

368871

Institutional Source

Beutler Lab

Gene Symbol

Rock2

Ensembl Gene

ENSMUSG00000020580

Gene Name

Rho-associated coiled-coil containing protein kinase 2

Synonyms

B230113H15Rik, ROKalpha, Rho-kinase, Rock-II, Rock2m

MMRRC Submission

042420-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R4794 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

16894895-16987823 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 16940407 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 110 (R110H)

Ref Sequence

ENSEMBL: ENSMUSP00000152813 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020904
AA Change: R110H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580
AA Change: R110H

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

noncoding transcript
Transcript: ENSMUST00000082686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220542

Predicted Effect

probably damaging
Transcript: ENSMUST00000220688
AA Change: R110H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4141

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	Het

Other mutations in Rock2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03198:Rock2	APN	12	16975507	missense	probably benign	0.27
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
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
R7935:Rock2	UTSW	12	16948557	missense	probably damaging	1.00
R8012:Rock2	UTSW	12	16942742	missense	probably damaging	1.00
R8339:Rock2	UTSW	12	16974860	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTTCCTGAAATTTGGGCCCTTAC -3'
(R):5'- CACAAAACAGTCTTCTGAATAGGC -3'

Sequencing Primer
(F):5'- CCTGAAATTTGGGCCCTTACATATG -3'
(R):5'- GTCTTCTGAATAGGCACCTTAACAC -3'

Posted On

2016-02-04