Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Rock2'

202655

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

039843-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R1815 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16944896-17037824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17022727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1055 (D1055E)

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: D1055E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580
AA Change: D1055E

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: D1055E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000221463

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	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
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
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
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'- AACTCTGGCCCTAGTGCTTG -3'
(R):5'- GAATTTGGCTCTCTTCAGCTATTTG -3'

Sequencing Primer
(F):5'- GTGCTTGTACACTAGACACTTG -3'
(R):5'- TGTGCATTGTAATTATGAGTCACAG -3'

Posted On

2014-06-23