Incidental Mutation 'R6843:Mprip'
ID |
534635 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mprip
|
Ensembl Gene |
ENSMUSG00000005417 |
Gene Name |
myosin phosphatase Rho interacting protein |
Synonyms |
p116 Rho interacting protein, p116Rip, Gm34094, RIP3, Rhoip3 |
MMRRC Submission |
044949-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.669)
|
Stock # |
R6843 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
59552973-59671686 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59650554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 1419
(I1419M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066330]
[ENSMUST00000072031]
[ENSMUST00000108751]
[ENSMUST00000116371]
[ENSMUST00000133861]
|
AlphaFold |
P97434 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066330
AA Change: I1419M
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000071081 Gene: ENSMUSG00000005417 AA Change: I1419M
Domain | Start | End | E-Value | Type |
PH
|
44 |
152 |
3.33e-10 |
SMART |
low complexity region
|
179 |
190 |
N/A |
INTRINSIC |
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
Blast:PH
|
249 |
320 |
1e-10 |
BLAST |
PH
|
351 |
448 |
3.76e-18 |
SMART |
low complexity region
|
492 |
501 |
N/A |
INTRINSIC |
low complexity region
|
536 |
555 |
N/A |
INTRINSIC |
coiled coil region
|
636 |
671 |
N/A |
INTRINSIC |
Blast:PAC
|
806 |
848 |
2e-10 |
BLAST |
low complexity region
|
1005 |
1023 |
N/A |
INTRINSIC |
low complexity region
|
1047 |
1059 |
N/A |
INTRINSIC |
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
low complexity region
|
1183 |
1200 |
N/A |
INTRINSIC |
coiled coil region
|
1267 |
1300 |
N/A |
INTRINSIC |
coiled coil region
|
1617 |
1642 |
N/A |
INTRINSIC |
coiled coil region
|
1729 |
1779 |
N/A |
INTRINSIC |
coiled coil region
|
1899 |
1936 |
N/A |
INTRINSIC |
coiled coil region
|
1960 |
2110 |
N/A |
INTRINSIC |
coiled coil region
|
2132 |
2206 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072031
|
SMART Domains |
Protein: ENSMUSP00000071914 Gene: ENSMUSG00000005417
Domain | Start | End | E-Value | Type |
PH
|
44 |
152 |
3.33e-10 |
SMART |
low complexity region
|
179 |
190 |
N/A |
INTRINSIC |
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
Blast:PH
|
254 |
320 |
1e-10 |
BLAST |
PH
|
387 |
484 |
3.76e-18 |
SMART |
low complexity region
|
528 |
537 |
N/A |
INTRINSIC |
low complexity region
|
572 |
591 |
N/A |
INTRINSIC |
coiled coil region
|
672 |
707 |
N/A |
INTRINSIC |
coiled coil region
|
728 |
878 |
N/A |
INTRINSIC |
coiled coil region
|
900 |
974 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108751
|
SMART Domains |
Protein: ENSMUSP00000104382 Gene: ENSMUSG00000005417
Domain | Start | End | E-Value | Type |
PH
|
44 |
152 |
3.33e-10 |
SMART |
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
Blast:PH
|
216 |
282 |
1e-10 |
BLAST |
PH
|
349 |
446 |
3.76e-18 |
SMART |
low complexity region
|
490 |
499 |
N/A |
INTRINSIC |
low complexity region
|
534 |
553 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
669 |
N/A |
INTRINSIC |
coiled coil region
|
690 |
840 |
N/A |
INTRINSIC |
coiled coil region
|
862 |
936 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116371
|
SMART Domains |
Protein: ENSMUSP00000112072 Gene: ENSMUSG00000005417
Domain | Start | End | E-Value | Type |
PH
|
44 |
152 |
3.33e-10 |
SMART |
low complexity region
|
179 |
190 |
N/A |
INTRINSIC |
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
Blast:PH
|
254 |
320 |
1e-10 |
BLAST |
PH
|
387 |
484 |
3.76e-18 |
SMART |
low complexity region
|
528 |
537 |
N/A |
INTRINSIC |
low complexity region
|
572 |
591 |
N/A |
INTRINSIC |
coiled coil region
|
672 |
707 |
N/A |
INTRINSIC |
coiled coil region
|
728 |
878 |
N/A |
INTRINSIC |
coiled coil region
|
900 |
974 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132620
|
SMART Domains |
Protein: ENSMUSP00000119422 Gene: ENSMUSG00000005417
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
Blast:PH
|
101 |
167 |
9e-11 |
BLAST |
PH
|
198 |
295 |
3.76e-18 |
SMART |
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
low complexity region
|
383 |
402 |
N/A |
INTRINSIC |
coiled coil region
|
482 |
517 |
N/A |
INTRINSIC |
coiled coil region
|
538 |
688 |
N/A |
INTRINSIC |
coiled coil region
|
710 |
784 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133861
|
SMART Domains |
Protein: ENSMUSP00000119562 Gene: ENSMUSG00000005417
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
low complexity region
|
89 |
102 |
N/A |
INTRINSIC |
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
PH
|
373 |
470 |
3.76e-18 |
SMART |
low complexity region
|
514 |
523 |
N/A |
INTRINSIC |
low complexity region
|
558 |
577 |
N/A |
INTRINSIC |
coiled coil region
|
658 |
693 |
N/A |
INTRINSIC |
coiled coil region
|
714 |
864 |
N/A |
INTRINSIC |
coiled coil region
|
886 |
960 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156111
|
SMART Domains |
Protein: ENSMUSP00000114446 Gene: ENSMUSG00000005417
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
5 |
38 |
1.61e-7 |
PROSPERO |
internal_repeat_2
|
9 |
51 |
2.4e-6 |
PROSPERO |
internal_repeat_1
|
59 |
92 |
1.61e-7 |
PROSPERO |
internal_repeat_2
|
85 |
129 |
2.4e-6 |
PROSPERO |
coiled coil region
|
140 |
177 |
N/A |
INTRINSIC |
coiled coil region
|
201 |
351 |
N/A |
INTRINSIC |
coiled coil region
|
373 |
447 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,615,360 (GRCm39) |
Q78L |
probably benign |
Het |
Akr1c21 |
A |
G |
13: 4,625,213 (GRCm39) |
H48R |
probably damaging |
Het |
Anks1b |
T |
A |
10: 90,784,460 (GRCm39) |
S1143T |
probably damaging |
Het |
Apip |
T |
G |
2: 102,922,834 (GRCm39) |
F217L |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,695 (GRCm39) |
Y1525N |
probably damaging |
Het |
Bcl2l13 |
G |
A |
6: 120,825,578 (GRCm39) |
|
probably null |
Het |
Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
Clk4 |
T |
G |
11: 51,167,076 (GRCm39) |
|
probably null |
Het |
Cnr2 |
C |
T |
4: 135,644,900 (GRCm39) |
P326L |
probably benign |
Het |
Cryaa |
A |
G |
17: 31,897,147 (GRCm39) |
D58G |
possibly damaging |
Het |
Crybg3 |
G |
A |
16: 59,380,159 (GRCm39) |
T365M |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,357,587 (GRCm39) |
N1683D |
probably benign |
Het |
Dbx2 |
T |
G |
15: 95,552,340 (GRCm39) |
I102L |
possibly damaging |
Het |
Dll4 |
A |
T |
2: 119,156,475 (GRCm39) |
|
probably benign |
Het |
Epb42 |
T |
A |
2: 120,858,166 (GRCm39) |
Y264F |
possibly damaging |
Het |
Exoc3l |
T |
A |
8: 106,016,729 (GRCm39) |
H695L |
probably benign |
Het |
Fhip1a |
G |
A |
3: 85,580,352 (GRCm39) |
P618S |
probably damaging |
Het |
Ghsr |
A |
C |
3: 27,426,676 (GRCm39) |
D244A |
probably benign |
Het |
Gm9195 |
A |
G |
14: 72,678,651 (GRCm39) |
Y2268H |
possibly damaging |
Het |
Hdac1 |
A |
G |
4: 129,436,383 (GRCm39) |
Y14H |
probably damaging |
Het |
Hdac3 |
A |
T |
18: 38,075,007 (GRCm39) |
Y282N |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,539,896 (GRCm39) |
N285K |
probably benign |
Het |
Igkv4-90 |
A |
G |
6: 68,784,670 (GRCm39) |
F8S |
possibly damaging |
Het |
Map2k1 |
A |
T |
9: 64,094,973 (GRCm39) |
D336E |
probably damaging |
Het |
Map4k2 |
A |
T |
19: 6,403,477 (GRCm39) |
I796F |
probably damaging |
Het |
Mapk13 |
T |
A |
17: 28,994,427 (GRCm39) |
|
probably null |
Het |
Nrap |
T |
C |
19: 56,368,651 (GRCm39) |
E255G |
probably damaging |
Het |
Oprl1 |
A |
G |
2: 181,357,547 (GRCm39) |
E11G |
probably damaging |
Het |
Or1i2 |
T |
C |
10: 78,447,891 (GRCm39) |
N195D |
probably damaging |
Het |
Or4f14 |
T |
C |
2: 111,743,260 (GRCm39) |
N5S |
probably damaging |
Het |
Or52b3 |
A |
G |
7: 102,203,928 (GRCm39) |
I146V |
probably benign |
Het |
Or5b99 |
G |
T |
19: 12,976,362 (GRCm39) |
C4F |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,048 (GRCm39) |
D17G |
possibly damaging |
Het |
Palmd |
T |
A |
3: 116,717,864 (GRCm39) |
D211V |
probably damaging |
Het |
Pcdhga11 |
A |
G |
18: 37,889,378 (GRCm39) |
N129D |
probably damaging |
Het |
Plekha6 |
T |
A |
1: 133,202,616 (GRCm39) |
M359K |
probably damaging |
Het |
Plekha7 |
G |
T |
7: 115,742,555 (GRCm39) |
H756Q |
probably benign |
Het |
Ppfibp2 |
C |
T |
7: 107,326,938 (GRCm39) |
P441S |
probably benign |
Het |
Ptprk |
T |
C |
10: 28,467,978 (GRCm39) |
I1373T |
possibly damaging |
Het |
Serpinb9g |
G |
T |
13: 33,676,900 (GRCm39) |
L227F |
probably damaging |
Het |
Snapc4 |
C |
A |
2: 26,263,611 (GRCm39) |
A11S |
probably benign |
Het |
Sqor |
T |
C |
2: 122,626,900 (GRCm39) |
V7A |
probably benign |
Het |
Sqor |
G |
T |
2: 122,651,215 (GRCm39) |
G437V |
probably damaging |
Het |
Srrm3 |
T |
C |
5: 135,881,135 (GRCm39) |
V145A |
probably benign |
Het |
Stx1b |
G |
A |
7: 127,414,151 (GRCm39) |
Q72* |
probably null |
Het |
Syt7 |
A |
G |
19: 10,399,135 (GRCm39) |
D77G |
probably damaging |
Het |
Tvp23a |
G |
A |
16: 10,264,884 (GRCm39) |
A9V |
probably benign |
Het |
Vmn1r66 |
T |
A |
7: 10,008,692 (GRCm39) |
I114F |
probably damaging |
Het |
Vmn2r80 |
C |
A |
10: 79,005,502 (GRCm39) |
Q380K |
probably benign |
Het |
Xdh |
C |
T |
17: 74,230,125 (GRCm39) |
E269K |
probably damaging |
Het |
Zfp932 |
T |
C |
5: 110,156,581 (GRCm39) |
M92T |
probably benign |
Het |
|
Other mutations in Mprip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Mprip
|
APN |
11 |
59,639,417 (GRCm39) |
missense |
probably benign |
0.07 |
IGL00563:Mprip
|
APN |
11 |
59,643,443 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00905:Mprip
|
APN |
11 |
59,662,994 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL00928:Mprip
|
APN |
11 |
59,635,578 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01161:Mprip
|
APN |
11 |
59,622,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01991:Mprip
|
APN |
11 |
59,645,838 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02491:Mprip
|
APN |
11 |
59,660,857 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03030:Mprip
|
APN |
11 |
59,631,941 (GRCm39) |
splice site |
probably null |
|
IGL03056:Mprip
|
APN |
11 |
59,662,518 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03293:Mprip
|
APN |
11 |
59,586,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Mprip
|
UTSW |
11 |
59,657,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R0097:Mprip
|
UTSW |
11 |
59,649,317 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0097:Mprip
|
UTSW |
11 |
59,649,317 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0147:Mprip
|
UTSW |
11 |
59,627,899 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0319:Mprip
|
UTSW |
11 |
59,587,864 (GRCm39) |
splice site |
probably benign |
|
R0471:Mprip
|
UTSW |
11 |
59,650,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Mprip
|
UTSW |
11 |
59,631,943 (GRCm39) |
splice site |
probably benign |
|
R0627:Mprip
|
UTSW |
11 |
59,660,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R0864:Mprip
|
UTSW |
11 |
59,649,587 (GRCm39) |
missense |
probably benign |
|
R1218:Mprip
|
UTSW |
11 |
59,634,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Mprip
|
UTSW |
11 |
59,650,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Mprip
|
UTSW |
11 |
59,650,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R1695:Mprip
|
UTSW |
11 |
59,643,357 (GRCm39) |
missense |
probably damaging |
0.99 |
R1698:Mprip
|
UTSW |
11 |
59,651,084 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1802:Mprip
|
UTSW |
11 |
59,645,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Mprip
|
UTSW |
11 |
59,657,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R1862:Mprip
|
UTSW |
11 |
59,649,047 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2094:Mprip
|
UTSW |
11 |
59,640,334 (GRCm39) |
splice site |
probably benign |
|
R2107:Mprip
|
UTSW |
11 |
59,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Mprip
|
UTSW |
11 |
59,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Mprip
|
UTSW |
11 |
59,640,334 (GRCm39) |
splice site |
probably benign |
|
R3003:Mprip
|
UTSW |
11 |
59,618,381 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3115:Mprip
|
UTSW |
11 |
59,656,229 (GRCm39) |
splice site |
probably null |
|
R3941:Mprip
|
UTSW |
11 |
59,622,328 (GRCm39) |
splice site |
probably benign |
|
R4347:Mprip
|
UTSW |
11 |
59,650,279 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4603:Mprip
|
UTSW |
11 |
59,622,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Mprip
|
UTSW |
11 |
59,648,846 (GRCm39) |
missense |
probably benign |
0.00 |
R5011:Mprip
|
UTSW |
11 |
59,650,721 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5338:Mprip
|
UTSW |
11 |
59,651,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R5549:Mprip
|
UTSW |
11 |
59,651,644 (GRCm39) |
missense |
probably benign |
0.00 |
R5569:Mprip
|
UTSW |
11 |
59,651,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R5604:Mprip
|
UTSW |
11 |
59,649,293 (GRCm39) |
missense |
probably benign |
|
R5615:Mprip
|
UTSW |
11 |
59,649,313 (GRCm39) |
missense |
probably benign |
0.08 |
R5846:Mprip
|
UTSW |
11 |
59,649,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R5970:Mprip
|
UTSW |
11 |
59,648,547 (GRCm39) |
missense |
probably damaging |
0.96 |
R6054:Mprip
|
UTSW |
11 |
59,649,251 (GRCm39) |
missense |
probably benign |
|
R6452:Mprip
|
UTSW |
11 |
59,643,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Mprip
|
UTSW |
11 |
59,649,815 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6544:Mprip
|
UTSW |
11 |
59,648,552 (GRCm39) |
missense |
probably benign |
0.15 |
R6750:Mprip
|
UTSW |
11 |
59,586,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R6851:Mprip
|
UTSW |
11 |
59,649,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R6867:Mprip
|
UTSW |
11 |
59,640,456 (GRCm39) |
critical splice donor site |
probably null |
|
R7002:Mprip
|
UTSW |
11 |
59,652,016 (GRCm39) |
missense |
probably benign |
0.22 |
R7023:Mprip
|
UTSW |
11 |
59,628,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Mprip
|
UTSW |
11 |
59,655,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R7765:Mprip
|
UTSW |
11 |
59,649,047 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7828:Mprip
|
UTSW |
11 |
59,627,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Mprip
|
UTSW |
11 |
59,643,756 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7911:Mprip
|
UTSW |
11 |
59,651,681 (GRCm39) |
missense |
|
|
R7979:Mprip
|
UTSW |
11 |
59,657,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R8292:Mprip
|
UTSW |
11 |
59,650,340 (GRCm39) |
missense |
probably benign |
0.21 |
R8481:Mprip
|
UTSW |
11 |
59,648,982 (GRCm39) |
nonsense |
probably null |
|
R8717:Mprip
|
UTSW |
11 |
59,650,526 (GRCm39) |
missense |
probably benign |
|
R8810:Mprip
|
UTSW |
11 |
59,587,851 (GRCm39) |
critical splice donor site |
probably benign |
|
R8981:Mprip
|
UTSW |
11 |
59,622,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Mprip
|
UTSW |
11 |
59,650,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9245:Mprip
|
UTSW |
11 |
59,628,403 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9748:Mprip
|
UTSW |
11 |
59,656,348 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Mprip
|
UTSW |
11 |
59,650,310 (GRCm39) |
missense |
probably benign |
0.05 |
Z1176:Mprip
|
UTSW |
11 |
59,628,230 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1177:Mprip
|
UTSW |
11 |
59,648,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTGTGAGTGCCATCAAGG -3'
(R):5'- CCAGTGTCCCTAGGTGTTTAC -3'
Sequencing Primer
(F):5'- TCAAGGCCCTTCAACCATGGG -3'
(R):5'- ACTTAGTGACTCGACCTGGC -3'
|
Posted On |
2018-09-12 |