Mutagenetix > Incidental Mutation

Incidental Mutation 'R1616:Rock2'

174283

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

039653-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R1616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16944896-17037824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17022986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1095 (I1095T)

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
AA Change: I1095T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580
AA Change: I1095T

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
AA Change: I1095T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000221463

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,187,087 (GRCm39)		probably benign	Het
A1cf	A	G	19: 31,912,175 (GRCm39)	E430G	probably damaging	Het
Aacs	T	A	5: 125,561,590 (GRCm39)		probably null	Het
Acot12	G	A	13: 91,920,886 (GRCm39)	V331I	probably benign	Het
Acp7	A	G	7: 28,310,503 (GRCm39)	W445R	probably damaging	Het
Actl11	C	A	9: 107,809,135 (GRCm39)	Q1153K	probably benign	Het
Actr8	A	G	14: 29,704,601 (GRCm39)	T34A	possibly damaging	Het
Ahnak	A	G	19: 8,986,351 (GRCm39)	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,457,991 (GRCm39)	Y388C	probably benign	Het
Apol7a	C	T	15: 77,273,806 (GRCm39)	G219S	probably damaging	Het
Arid1b	T	A	17: 5,389,569 (GRCm39)	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,966,058 (GRCm39)	Q2669R	probably benign	Het
Braf	A	T	6: 39,620,067 (GRCm39)	S504T	probably benign	Het
Cbl	A	T	9: 44,064,197 (GRCm39)	Y780N	probably damaging	Het
Cd86	T	C	16: 36,449,338 (GRCm39)	I20V	probably benign	Het
Cep290	T	G	10: 100,404,698 (GRCm39)	D2353E	probably benign	Het
Ckmt2	G	A	13: 92,007,328 (GRCm39)	R289C	probably benign	Het
Col3a1	T	C	1: 45,367,648 (GRCm39)		probably null	Het
Cyp4f16	T	A	17: 32,761,942 (GRCm39)	Y163*	probably null	Het
Dimt1	T	C	13: 107,089,958 (GRCm39)	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,077,095 (GRCm39)	M2338K	probably benign	Het
Dock4	T	G	12: 40,719,044 (GRCm39)	I274S	probably damaging	Het
Enthd1	T	C	15: 80,336,586 (GRCm39)	D616G	probably damaging	Het
Fignl2	T	C	15: 100,951,997 (GRCm39)	E95G	probably damaging	Het
Foxn1	A	G	11: 78,249,692 (GRCm39)	M611T	probably benign	Het
Foxs1	T	C	2: 152,774,559 (GRCm39)	S165G	probably benign	Het
Fzd3	G	T	14: 65,472,956 (GRCm39)	Q271K	probably benign	Het
Hadhb	A	T	5: 30,371,713 (GRCm39)	I55F	probably damaging	Het
Hipk3	G	A	2: 104,264,090 (GRCm39)	Q824*	probably null	Het
Hps1	G	A	19: 42,755,624 (GRCm39)	R201W	probably damaging	Het
Kif21b	T	C	1: 136,099,423 (GRCm39)	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,123,680 (GRCm39)		probably null	Het
Krt90	T	C	15: 101,469,026 (GRCm39)	E172G	possibly damaging	Het
Lama4	T	G	10: 38,951,446 (GRCm39)	F1064V	probably damaging	Het
Leng9	A	G	7: 4,151,902 (GRCm39)	V258A	probably benign	Het
Lgi2	A	C	5: 52,703,980 (GRCm39)	V217G	probably benign	Het
Lpgat1	T	C	1: 191,495,741 (GRCm39)	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,796,995 (GRCm39)	Y374C	probably damaging	Het
Magi2	C	A	5: 20,814,324 (GRCm39)	T1075K	probably damaging	Het
Man2c1	T	C	9: 57,042,793 (GRCm39)	I221T	probably benign	Het
Mydgf	A	G	17: 56,486,415 (GRCm39)	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,815,474 (GRCm39)	N624S	probably damaging	Het
Myo5c	T	A	9: 75,203,299 (GRCm39)	M1465K	probably damaging	Het
Nek4	A	T	14: 30,709,094 (GRCm39)	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,686,380 (GRCm39)	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nop14	G	T	5: 34,807,757 (GRCm39)	Q402K	possibly damaging	Het
Npy5r	C	G	8: 67,134,052 (GRCm39)	C247S	probably damaging	Het
Nrap	T	A	19: 56,378,255 (GRCm39)	I19F	probably damaging	Het
Or4c102	A	G	2: 88,422,352 (GRCm39)	D68G	probably damaging	Het
Or51t4	T	A	7: 102,597,721 (GRCm39)	N16K	probably damaging	Het
Or6z3	T	G	7: 6,463,744 (GRCm39)	S79A	probably damaging	Het
Pcdh9	A	T	14: 94,124,405 (GRCm39)	Y588*	probably null	Het
Ppp1r12a	A	G	10: 108,096,728 (GRCm39)	E183G	probably damaging	Het
Ppp2r2b	T	A	18: 42,821,375 (GRCm39)	H261L	probably benign	Het
Ptch1	G	T	13: 63,687,656 (GRCm39)	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,713,103 (GRCm39)	N1742I	possibly damaging	Het
Rab33a	C	T	X: 47,608,521 (GRCm39)	S15L	probably benign	Het
Ralb	T	C	1: 119,405,744 (GRCm39)	Y75C	probably damaging	Het
Rassf7	T	A	7: 140,796,645 (GRCm39)	V2D	probably damaging	Het
Rbm10	A	G	X: 20,512,230 (GRCm39)	N397S	probably benign	Het
Rbm15	T	C	3: 107,238,197 (GRCm39)	T734A	probably benign	Het
Rbm8a	G	T	3: 96,539,046 (GRCm39)		probably benign	Het
Rxfp3	T	A	15: 11,036,389 (GRCm39)	T328S	probably damaging	Het
Sec31a	T	A	5: 100,534,054 (GRCm39)	K505N	possibly damaging	Het
Selenof	A	G	3: 144,302,642 (GRCm39)	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,331,441 (GRCm39)	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,574,843 (GRCm39)	D522G	probably benign	Het
Slc2a1	T	C	4: 118,993,503 (GRCm39)	F447L	probably damaging	Het
Slc45a2	T	A	15: 11,022,214 (GRCm39)	C319S	probably null	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,615,731 (GRCm39)	D246G	probably damaging	Het
Tekt3	T	G	11: 62,978,024 (GRCm39)		probably null	Het
Them5	G	A	3: 94,253,567 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,717 (GRCm39)	F170Y	probably damaging	Het
Tmem214	T	G	5: 31,028,907 (GRCm39)	Y165*	probably null	Het
Tmem94	T	C	11: 115,686,971 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,177 (GRCm39)	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,960,076 (GRCm39)	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,092,523 (GRCm39)	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,330 (GRCm39)	R160*	probably null	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954 (GRCm39)	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,449,043 (GRCm39)	T274I	probably damaging	Het
Xylt2	C	T	11: 94,559,035 (GRCm39)	S445N	probably damaging	Het
Zfp457	A	G	13: 67,444,375 (GRCm39)	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,723,473 (GRCm39)	M455L	probably benign	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
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
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'- TGTCAAGCGTGGTAGTGACACAG -3'
(R):5'- AATCCATCATCAGGCTCAGCATCG -3'

Sequencing Primer
(F):5'- TGGTAGTGACACAGATGTGC -3'
(R):5'- AGCATCGCCTGGTCCAC -3'

Posted On

2014-04-24