Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02490:Rock2'

295571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rock2

Ensembl Gene

ENSMUSG00000020580

Gene Name

Rho-associated coiled-coil containing protein kinase 2

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.847) question?

Stock #

IGL02490

Quality Score

Status

Chromosome

Chromosomal Location

16894895-16987823 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16948563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 277 (W277R)

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: W277R

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

SMART Domains

Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580
AA Change: W277R

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: ENSMUST00000220542

Predicted Effect

probably damaging
Transcript: ENSMUST00000220688
AA Change: W277R

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D06Rik	A	G	6: 89,101,577		noncoding transcript	Het
Adam5	A	T	8: 24,781,704	Y562*	probably null	Het
Akr1d1	T	C	6: 37,558,488	V269A	probably damaging	Het
Anks4b	A	G	7: 120,174,018	T34A	probably damaging	Het
Arhgef40	A	G	14: 51,989,195	N232S	probably damaging	Het
Cdc40	C	T	10: 40,841,771	V379I	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdh13	A	G	8: 119,095,323	D307G	probably damaging	Het
Ces1h	A	G	8: 93,356,999		probably null	Het
Chchd6	T	A	6: 89,384,674	H249L	possibly damaging	Het
Cul1	T	C	6: 47,514,886	V392A	probably damaging	Het
Cwc15	A	T	9: 14,502,024	D34V	probably damaging	Het
Cyp2c39	T	C	19: 39,539,002	I264T	probably damaging	Het
Dapk1	A	G	13: 60,749,334	D789G	probably damaging	Het
Dcdc2a	T	A	13: 25,107,652	Y207N	probably damaging	Het
Efcab1	T	A	16: 14,916,946	V60E	probably benign	Het
Flt3	T	A	5: 147,331,296	N960Y	probably damaging	Het
Fmn1	C	T	2: 113,529,472		probably benign	Het
Foxm1	T	A	6: 128,373,351	C400*	probably null	Het
Ftmt	A	C	18: 52,331,688	R25S	probably benign	Het
Guca1b	T	C	17: 47,389,265		probably benign	Het
Hectd4	A	T	5: 121,318,613	K680N	possibly damaging	Het
Hephl1	C	A	9: 15,053,685	R1138L	probably benign	Het
Il1rl2	T	A	1: 40,356,812		probably benign	Het
Ints2	A	T	11: 86,233,183	I593K	possibly damaging	Het
Iqcg	T	A	16: 33,035,567	K213*	probably null	Het
Kif1b	T	A	4: 149,204,208	S1259C	probably benign	Het
Klc1	C	T	12: 111,781,776	T371M	possibly damaging	Het
Loxl4	T	C	19: 42,604,830	T301A	probably benign	Het
Lrrc40	T	C	3: 158,062,699	L497P	probably damaging	Het
Masp2	C	T	4: 148,607,943	R298W	possibly damaging	Het
Myo5a	A	T	9: 75,136,455	Y242F	probably damaging	Het
Nup98	A	G	7: 102,152,366	V784A	probably damaging	Het
Olfr1138	T	C	2: 87,737,955	Y123C	probably damaging	Het
Osbpl1a	G	T	18: 12,882,284		probably benign	Het
Pcdh10	A	G	3: 45,380,487	Y412C	probably damaging	Het
Pfkfb2	T	A	1: 130,700,852	Y339F	probably damaging	Het
Plcb2	T	C	2: 118,719,760	N172D	probably damaging	Het
Plec	T	C	15: 76,189,263	Y517C	probably damaging	Het
Plod2	G	T	9: 92,586,842	A207S	probably benign	Het
Plxdc1	A	T	11: 97,954,778	D229E	probably benign	Het
Ppp3cb	A	G	14: 20,531,658		probably null	Het
Procr	T	C	2: 155,753,432	L52P	probably damaging	Het
Psme2b	G	T	11: 48,946,119		probably benign	Het
Rgs22	G	A	15: 36,054,847	A727V	probably damaging	Het
Rpl26	A	G	11: 68,904,390	D112G	probably damaging	Het
Rxfp1	C	A	3: 79,652,167		probably null	Het
Sdr39u1	G	A	14: 55,898,341	P98L	probably damaging	Het
Sgms1	T	C	19: 32,160,143	K8E	probably damaging	Het
Stk31	T	C	6: 49,417,535	V277A	probably benign	Het
Trav15-1-dv6-1	A	C	14: 53,560,131	E79A	probably benign	Het
Ttll6	A	T	11: 96,156,720	D715V	possibly damaging	Het
Ush2a	T	C	1: 188,810,364	S3376P	probably damaging	Het
Vmn2r109	T	A	17: 20,540,984	T704S	possibly damaging	Het
Zfp27	T	A	7: 29,894,935	H535L	possibly damaging	Het
Zfp609	A	T	9: 65,703,968	V571D	possibly damaging	Het
Zfp874a	A	T	13: 67,442,700	Y288*	probably null	Het
Zfp993	T	C	4: 146,657,617	S133P	probably 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
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
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
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
R8809:Rock2	UTSW	12	16965654	critical splice donor site	probably benign
R8918:Rock2	UTSW	12	16940421	nonsense	probably null
R9198:Rock2	UTSW	12	16965556	missense	probably benign

Posted On

2015-04-16