Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:Rock1'

165466

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

039519-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10064401-10182045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10072863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1161 (Q1161K)

Ref Sequence

ENSEMBL: ENSMUSP00000069549 (fasta)

Gene Model

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

AlphaFold

P70335

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067947
AA Change: Q1161K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069549
Gene: ENSMUSG00000024290
AA Change: Q1161K

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: 99.2%
3x: 97.3%
10x: 87.6%
20x: 63.2%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,651,866 (GRCm39)	Y121H	probably damaging	Het
Abca13	G	T	11: 9,349,303 (GRCm39)	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,174,973 (GRCm39)	Y192H	probably damaging	Het
Afm	A	T	5: 90,698,200 (GRCm39)	D534V	probably damaging	Het
Agl	T	C	3: 116,565,021 (GRCm39)	E1076G	probably benign	Het
Ahcyl	T	C	16: 45,974,211 (GRCm39)	K389E	probably benign	Het
Angptl3	A	T	4: 98,925,757 (GRCm39)	H361L	probably benign	Het
Apob	T	C	12: 8,061,421 (GRCm39)	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,674,730 (GRCm39)	C376S	possibly damaging	Het
Ass1	A	G	2: 31,410,428 (GRCm39)	*413W	probably null	Het
Atp6v1h	T	A	1: 5,165,911 (GRCm39)	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,671,870 (GRCm39)	S14F	probably damaging	Het
Bhmt1b	T	G	18: 87,775,382 (GRCm39)	F302V	probably damaging	Het
Birc6	G	A	17: 74,930,853 (GRCm39)	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,112,941 (GRCm39)	A589T	possibly damaging	Het
Casp9	C	A	4: 141,533,151 (GRCm39)	T252K	probably benign	Het
Cct4	G	A	11: 22,952,922 (GRCm39)	D533N	probably damaging	Het
Clcn6	A	C	4: 148,098,358 (GRCm39)	I555S	probably damaging	Het
Col4a4	A	T	1: 82,475,543 (GRCm39)		probably null	Het
Cyp2d10	A	T	15: 82,288,129 (GRCm39)		probably null	Het
D930048N14Rik	A	G	11: 51,545,740 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,204,764 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,002,430 (GRCm39)	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,916,088 (GRCm39)	E17G	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,580,618 (GRCm39)	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034 (GRCm39)	S212P	probably damaging	Het
Ephb6	T	C	6: 41,593,040 (GRCm39)	F426S	probably damaging	Het
F5	A	T	1: 164,026,402 (GRCm39)	D1658V	probably benign	Het
Faah	A	T	4: 115,856,755 (GRCm39)	V469E	probably damaging	Het
Fas	T	C	19: 34,294,013 (GRCm39)	C123R	probably damaging	Het
Fhod1	T	C	8: 106,065,546 (GRCm39)		probably benign	Het
Filip1	A	G	9: 79,805,589 (GRCm39)	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197 (GRCm39)	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,034,806 (GRCm39)	G87S	probably damaging	Het
Golga3	T	C	5: 110,357,744 (GRCm39)	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,915,812 (GRCm39)	T281A	probably benign	Het
Grap2	T	A	15: 80,532,612 (GRCm39)		probably null	Het
Hlcs	T	C	16: 94,069,151 (GRCm39)	D170G	probably damaging	Het
Hook1	A	G	4: 95,901,493 (GRCm39)	T484A	probably benign	Het
Hoxa5	T	A	6: 52,180,771 (GRCm39)	H187L	probably benign	Het
Inpp1	G	T	1: 52,829,253 (GRCm39)	S255R	probably benign	Het
Inpp4b	T	A	8: 82,494,786 (GRCm39)	V67E	probably damaging	Het
Iqgap3	A	G	3: 87,994,616 (GRCm39)	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,539,692 (GRCm39)		probably null	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Klk1b24	C	A	7: 43,840,785 (GRCm39)	T71N	probably benign	Het
Loxhd1	A	G	18: 77,468,269 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,001,071 (GRCm39)	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,478,272 (GRCm39)	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,344,829 (GRCm39)	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,547,533 (GRCm39)	N150S	probably benign	Het
Lrrn4	C	A	2: 132,713,995 (GRCm39)	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,860,074 (GRCm39)	S627G	probably damaging	Het
Macf1	A	T	4: 123,386,947 (GRCm39)	S1224T	probably damaging	Het
Meis2	A	C	2: 115,889,151 (GRCm39)	H200Q	probably benign	Het
Mesd	C	A	7: 83,544,790 (GRCm39)	A80E	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Myo3a	T	C	2: 22,467,939 (GRCm39)	F398L	probably benign	Het
Nanp	A	G	2: 150,872,749 (GRCm39)	C60R	probably benign	Het
Nectin2	T	G	7: 19,464,041 (GRCm39)	M313L	probably benign	Het
Nek4	C	T	14: 30,678,844 (GRCm39)	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,299,607 (GRCm39)	V371A	probably damaging	Het
Or11g7	A	G	14: 50,690,634 (GRCm39)	T42A	possibly damaging	Het
Or13c7b	A	G	4: 43,820,723 (GRCm39)	F213L	probably benign	Het
Or52n4	T	C	7: 104,294,153 (GRCm39)	N140S	probably benign	Het
Or5b109	T	A	19: 13,212,265 (GRCm39)	V217E	possibly damaging	Het
Pcdh20	T	A	14: 88,706,673 (GRCm39)	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,637,750 (GRCm39)	R92H	probably damaging	Het
Pgap1	T	C	1: 54,567,714 (GRCm39)	H377R	probably benign	Het
Phyhipl	G	T	10: 70,406,798 (GRCm39)	P52Q	probably damaging	Het
Pwwp2a	T	A	11: 43,596,383 (GRCm39)	V516E	possibly damaging	Het
Rack1	T	C	11: 48,692,586 (GRCm39)	V69A	probably damaging	Het
Rexo5	T	A	7: 119,400,581 (GRCm39)		probably null	Het
Rps6ka2	T	C	17: 7,560,266 (GRCm39)	L568P	probably damaging	Het
Seh1l	T	C	18: 67,917,054 (GRCm39)	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,083,573 (GRCm39)		probably null	Het
Setd1a	T	C	7: 127,387,512 (GRCm39)		probably benign	Het
Setx	G	T	2: 29,030,401 (GRCm39)		probably null	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Shc2	G	T	10: 79,467,136 (GRCm39)	R146S	probably damaging	Het
Skap2	T	C	6: 51,886,348 (GRCm39)	T5A	probably benign	Het
Slc35a3	T	C	3: 116,480,983 (GRCm39)	I93M	probably benign	Het
Sohlh1	C	T	2: 25,733,359 (GRCm39)	G295D	probably damaging	Het
Sult2a8	A	C	7: 14,150,208 (GRCm39)	C168G	probably benign	Het
Tbc1d4	T	C	14: 101,685,124 (GRCm39)	I1176V	possibly damaging	Het
Thada	A	T	17: 84,744,104 (GRCm39)	F735I	possibly damaging	Het
Tle1	A	C	4: 72,058,068 (GRCm39)	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,044,155 (GRCm39)	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,171,668 (GRCm39)	C95F	probably damaging	Het
Uspl1	T	C	5: 149,150,842 (GRCm39)	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,917,935 (GRCm39)	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,368,195 (GRCm39)	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 9,834,249 (GRCm39)	I263T	probably damaging	Het
Zfp937	T	A	2: 150,080,967 (GRCm39)	C332*	probably null	Het
Zscan21	T	A	5: 138,123,470 (GRCm39)	S50T	probably benign	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
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
R1862:Rock1	UTSW	18	10,079,207 (GRCm39)	missense	probably damaging	0.99
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'- GTGTCAATGTGGATGCAAACATGCC -3'
(R):5'- CCCACCTAGAGTCAAGAATTGAAGGTTG -3'

Sequencing Primer
(F):5'- gtttgtctcccagcaccc -3'
(R):5'- GGTTGGCTTTCTGTACCAAATAG -3'

Posted On

2014-03-28