Incidental Mutation 'R2349:Rock2'
| ID |
247404 |
| 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 |
040331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.821)
|
| Stock # |
R2349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
16944896-17037824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17027616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 127
(N127S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020904]
[ENSMUST00000220688]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020904
AA Change: N1254S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000020904
Gene: ENSMUSG00000020580
AA Change: N1254S
| 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: N1311S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221463
AA Change: N127S
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
| Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
| Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
| Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
| Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
| Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
| Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
| Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
| Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
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 |
|
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 |
|
R1815:Rock2
|
UTSW |
12 |
17,022,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1840:Rock2
|
UTSW |
12 |
16,978,990 (GRCm39) |
missense |
probably benign |
|
|
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'- GAACTTCAACTGCATTTTGCTC -3'
(R):5'- TTTGCAGGGCGCTATAATCTC -3'
Sequencing Primer
(F):5'- GAACAAGACCTGGGTTTAGTTCCC -3'
(R):5'- AGGGCGCTATAATCTCTTCCTTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation