Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Rock1'

204074

Institutional Source

Beutler Lab

Gene Symbol

Rock1

Ensembl Gene

ENSMUSG00000024290

Gene Name

Rho-associated coiled-coil containing protein kinase 1

Synonyms

1110055K06Rik, Rock-I

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10064401-10182045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10079207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1087 (I1087T)

Ref Sequence

ENSEMBL: ENSMUSP00000069549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067947]

AlphaFold

P70335

Predicted Effect

probably damaging
Transcript: ENSMUST00000067947
AA Change: I1087T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069549
Gene: ENSMUSG00000024290
AA Change: I1087T

Domain	Start	End	E-Value	Type
S_TKc	76	338	4.07e-97	SMART
S_TK_X	341	401	4.02e-9	SMART
low complexity region	408	419	N/A	INTRINSIC
PDB:3O0Z\|D	535	700	1e-101	PDB
low complexity region	715	731	N/A	INTRINSIC
PDB:4L2W\|B	832	914	7e-28	PDB
Pfam:Rho_Binding	948	1014	4.3e-26	PFAM
PH	1119	1319	1.19e-6	SMART
C1	1229	1283	2.64e-10	SMART

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.] This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have open eyes at birth, omphalocele and most die soon after birth as a result of cannibalization by the mom. Survivors develop inflammation of the eyelid. Another homozygous mutant shows partial lethality around implantation and reduced cardiac fibrosis after pressure overload. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,069,429 (GRCm39)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,726,834 (GRCm39)		probably null	Het
Cacna1a	A	T	8: 85,142,559 (GRCm39)	I96F	possibly damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,917,026 (GRCm39)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,734,902 (GRCm39)	Y685H	probably damaging	Het
Cibar1	C	T	4: 12,155,717 (GRCm39)	V306I	possibly damaging	Het
Cmklr1	T	C	5: 113,752,468 (GRCm39)	T178A	probably damaging	Het
Col16a1	G	A	4: 129,986,575 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,276,439 (GRCm39)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm39)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,254,911 (GRCm39)	H148R	probably damaging	Het
Crygd	T	C	1: 65,101,133 (GRCm39)	Y154C	probably benign	Het
Cubn	T	C	2: 13,313,372 (GRCm39)	Y3066C	probably damaging	Het
Defb15	C	T	8: 22,420,002 (GRCm39)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnah12	A	T	14: 26,430,412 (GRCm39)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,619,373 (GRCm39)	R193L	probably damaging	Het
Dusp29	A	G	14: 21,736,757 (GRCm39)	V115A	probably benign	Het
Esd	A	C	14: 74,979,514 (GRCm39)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Etfbkmt	T	A	6: 149,045,649 (GRCm39)	M1K	probably null	Het
Exph5	A	G	9: 53,287,548 (GRCm39)	H1543R	probably benign	Het
Fbxo16	A	G	14: 65,508,252 (GRCm39)	T23A	probably damaging	Het
Gorasp2	C	A	2: 70,509,808 (GRCm39)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,439,853 (GRCm39)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,419,958 (GRCm39)	D592G	probably benign	Het
Inmt	G	A	6: 55,151,868 (GRCm39)	A34V	probably damaging	Het
Ints9	A	C	14: 65,263,862 (GRCm39)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,618,098 (GRCm39)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,353,068 (GRCm39)	V259D	probably damaging	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrba	T	C	3: 86,680,510 (GRCm39)		probably null	Het
Mapk1	T	A	16: 16,844,293 (GRCm39)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,387,706 (GRCm39)	P554L	probably damaging	Het
Mki67	T	C	7: 135,301,090 (GRCm39)	T1315A	probably benign	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,113,726 (GRCm39)	I688F	probably benign	Het
Myo1d	A	T	11: 80,553,874 (GRCm39)	Y536N	probably damaging	Het
Neb	C	T	2: 52,052,199 (GRCm39)		probably null	Het
Noc2l	A	G	4: 156,322,165 (GRCm39)	R161G	probably benign	Het
Nup54	T	A	5: 92,567,426 (GRCm39)	I375L	possibly damaging	Het
Nup93	T	C	8: 95,032,730 (GRCm39)	F539L	probably damaging	Het
Or10x1	T	A	1: 174,197,018 (GRCm39)	H178Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,235 (GRCm39)	E191G	probably damaging	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or8b12	T	A	9: 37,658,264 (GRCm39)	M278K	probably benign	Het
Panx1	A	T	9: 14,918,724 (GRCm39)	D378E	probably damaging	Het
Papss1	T	A	3: 131,288,945 (GRCm39)	V170D	possibly damaging	Het
Pcnx1	T	C	12: 81,965,506 (GRCm39)	S558P	probably damaging	Het
Pde3a	G	T	6: 141,433,239 (GRCm39)	A757S	probably damaging	Het
Pde3a	T	A	6: 141,196,079 (GRCm39)	I255N	probably damaging	Het
Pdzph1	A	G	17: 59,229,578 (GRCm39)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Polr1a	G	A	6: 71,886,187 (GRCm39)	G14D	probably damaging	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Ptprc	T	C	1: 138,039,965 (GRCm39)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,733,035 (GRCm39)	R205K	probably benign	Het
Rcan2	A	T	17: 44,347,980 (GRCm39)		probably null	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Septin4	A	G	11: 87,458,061 (GRCm39)	H145R	possibly damaging	Het
Setd1b	T	C	5: 123,285,676 (GRCm39)	S241P	unknown	Het
Slco1a8	T	C	6: 141,949,149 (GRCm39)	M76V	possibly damaging	Het
Srpk2	T	C	5: 23,729,148 (GRCm39)	K497R	probably benign	Het
Sspo	T	C	6: 48,467,940 (GRCm39)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tank	T	C	2: 61,480,256 (GRCm39)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,344,955 (GRCm39)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,060,405 (GRCm39)	V457A	probably damaging	Het
Trim43b	T	A	9: 88,967,624 (GRCm39)	K336N	probably damaging	Het
Trim47	T	C	11: 115,996,963 (GRCm39)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,022 (GRCm39)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm39)	S231P	probably benign	Het
Vit	A	G	17: 78,930,175 (GRCm39)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 9,907,333 (GRCm39)	C131Y	possibly damaging	Het
Zfp58	A	T	13: 67,639,307 (GRCm39)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,544,435 (GRCm39)	G491C	probably damaging	Het

Other mutations in Rock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Rock1	APN	18	10,080,502 (GRCm39)	missense	probably benign	0.44
IGL01535:Rock1	APN	18	10,132,119 (GRCm39)	splice site	probably benign
IGL01751:Rock1	APN	18	10,079,113 (GRCm39)	critical splice donor site	probably null
IGL01752:Rock1	APN	18	10,079,113 (GRCm39)	critical splice donor site	probably null
IGL02318:Rock1	APN	18	10,104,323 (GRCm39)	splice site	probably benign
IGL02420:Rock1	APN	18	10,070,619 (GRCm39)	splice site	probably null
IGL03030:Rock1	APN	18	10,070,215 (GRCm39)	splice site	probably benign
IGL03339:Rock1	APN	18	10,097,493 (GRCm39)	missense	probably benign	0.00
R0010:Rock1	UTSW	18	10,084,380 (GRCm39)	missense	probably damaging	0.99
R0010:Rock1	UTSW	18	10,084,380 (GRCm39)	missense	probably damaging	0.99
R0041:Rock1	UTSW	18	10,140,240 (GRCm39)	missense	probably damaging	1.00
R0041:Rock1	UTSW	18	10,140,240 (GRCm39)	missense	probably damaging	1.00
R0480:Rock1	UTSW	18	10,079,120 (GRCm39)	missense	possibly damaging	0.92
R0538:Rock1	UTSW	18	10,132,227 (GRCm39)	missense	possibly damaging	0.53
R0719:Rock1	UTSW	18	10,099,328 (GRCm39)	missense	probably damaging	1.00
R1033:Rock1	UTSW	18	10,067,535 (GRCm39)	missense	probably benign	0.12
R1448:Rock1	UTSW	18	10,070,233 (GRCm39)	missense	probably damaging	1.00
R1465:Rock1	UTSW	18	10,072,863 (GRCm39)	missense	possibly damaging	0.80
R1465:Rock1	UTSW	18	10,072,863 (GRCm39)	missense	possibly damaging	0.80
R1470:Rock1	UTSW	18	10,136,091 (GRCm39)	splice site	probably null
R1470:Rock1	UTSW	18	10,136,091 (GRCm39)	splice site	probably null
R1694:Rock1	UTSW	18	10,136,094 (GRCm39)	critical splice donor site	probably null
R1995:Rock1	UTSW	18	10,101,026 (GRCm39)	nonsense	probably null
R2177:Rock1	UTSW	18	10,070,263 (GRCm39)	missense	probably benign	0.18
R2892:Rock1	UTSW	18	10,072,863 (GRCm39)	nonsense	probably null
R3780:Rock1	UTSW	18	10,067,575 (GRCm39)	missense	probably benign	0.00
R3884:Rock1	UTSW	18	10,122,768 (GRCm39)	missense	probably damaging	1.00
R4352:Rock1	UTSW	18	10,079,237 (GRCm39)	missense	probably damaging	1.00
R4414:Rock1	UTSW	18	10,080,514 (GRCm39)	missense	probably damaging	1.00
R4646:Rock1	UTSW	18	10,112,391 (GRCm39)	missense	probably benign
R4694:Rock1	UTSW	18	10,136,152 (GRCm39)	nonsense	probably null
R4888:Rock1	UTSW	18	10,122,698 (GRCm39)	missense	probably benign	0.06
R5085:Rock1	UTSW	18	10,140,210 (GRCm39)	missense	probably damaging	1.00
R5884:Rock1	UTSW	18	10,099,361 (GRCm39)	missense	probably benign	0.03
R5927:Rock1	UTSW	18	10,116,792 (GRCm39)	missense	probably damaging	1.00
R6084:Rock1	UTSW	18	10,101,007 (GRCm39)	missense	probably benign	0.15
R6151:Rock1	UTSW	18	10,106,426 (GRCm39)	missense	possibly damaging	0.79
R6360:Rock1	UTSW	18	10,116,778 (GRCm39)	missense	possibly damaging	0.52
R6892:Rock1	UTSW	18	10,122,612 (GRCm39)	missense	probably benign	0.00
R7313:Rock1	UTSW	18	10,129,317 (GRCm39)	missense	possibly damaging	0.73
R7397:Rock1	UTSW	18	10,097,599 (GRCm39)	missense	possibly damaging	0.80
R7488:Rock1	UTSW	18	10,122,762 (GRCm39)	missense	probably damaging	1.00
R7515:Rock1	UTSW	18	10,067,631 (GRCm39)	missense	probably damaging	0.97
R7567:Rock1	UTSW	18	10,090,820 (GRCm39)	missense	probably benign	0.35
R7569:Rock1	UTSW	18	10,140,194 (GRCm39)	missense	probably damaging	1.00
R7639:Rock1	UTSW	18	10,140,244 (GRCm39)	missense	probably damaging	1.00
R7836:Rock1	UTSW	18	10,097,651 (GRCm39)	splice site	probably null
R7844:Rock1	UTSW	18	10,104,173 (GRCm39)	missense	probably damaging	0.99
R7943:Rock1	UTSW	18	10,112,357 (GRCm39)	missense	probably damaging	1.00
R7945:Rock1	UTSW	18	10,116,831 (GRCm39)	missense	probably damaging	1.00
R8421:Rock1	UTSW	18	10,072,863 (GRCm39)	nonsense	probably null
R8801:Rock1	UTSW	18	10,070,260 (GRCm39)	missense	probably damaging	1.00
R8819:Rock1	UTSW	18	10,070,626 (GRCm39)	missense	probably damaging	1.00
R9281:Rock1	UTSW	18	10,080,479 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACCTTCAGGGGTTTCCTCAG -3'
(R):5'- TCAGAAAACATCATCATCTGTGGC -3'

Sequencing Primer
(F):5'- GGCACAGCCTATTAGTACATTTG -3'
(R):5'- CTGTCAGAATTATTTGAGTCTGG -3'

Posted On

2014-06-23