Incidental Mutation 'R0097:Mprip'
ID |
41165 |
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 |
038383-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.669)
|
Stock # |
R0097 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59552973-59671686 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59649317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1007
(L1007Q)
|
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: L1007Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071081 Gene: ENSMUSG00000005417 AA Change: L1007Q
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
Bbs10 |
T |
C |
10: 111,134,705 (GRCm39) |
V41A |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
Cldnd1 |
A |
G |
16: 58,550,078 (GRCm39) |
N87S |
possibly damaging |
Het |
Cyp2c54 |
T |
A |
19: 40,036,102 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
G |
T |
19: 40,036,103 (GRCm39) |
|
probably benign |
Het |
Dab2ip |
G |
A |
2: 35,608,928 (GRCm39) |
V629M |
possibly damaging |
Het |
Ddx41 |
A |
T |
13: 55,683,691 (GRCm39) |
|
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Llgl2 |
T |
A |
11: 115,735,323 (GRCm39) |
Y59* |
probably null |
Het |
Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
Ncam2 |
A |
G |
16: 81,314,425 (GRCm39) |
D467G |
probably damaging |
Het |
Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
Pign |
G |
A |
1: 105,515,701 (GRCm39) |
|
probably benign |
Het |
Plpp2 |
T |
C |
10: 79,366,371 (GRCm39) |
E91G |
possibly damaging |
Het |
Pnp |
T |
A |
14: 51,188,873 (GRCm39) |
V222D |
probably damaging |
Het |
Pnp2 |
C |
T |
14: 51,200,958 (GRCm39) |
R148C |
probably benign |
Het |
Pramel30 |
T |
C |
4: 144,057,857 (GRCm39) |
S155P |
probably benign |
Het |
Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
Rbbp5 |
T |
A |
1: 132,418,227 (GRCm39) |
H15Q |
possibly damaging |
Het |
Rhox4f |
A |
C |
X: 36,789,122 (GRCm39) |
V15G |
probably benign |
Het |
Rsl1 |
A |
C |
13: 67,329,966 (GRCm39) |
Q138P |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
Svs3b |
T |
C |
2: 164,098,159 (GRCm39) |
E54G |
probably damaging |
Het |
T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
Tppp3 |
C |
T |
8: 106,194,554 (GRCm39) |
A149T |
probably benign |
Het |
Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
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 |
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 |
R6843:Mprip
|
UTSW |
11 |
59,650,554 (GRCm39) |
missense |
possibly damaging |
0.54 |
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'- GTACAGAGCCTCCATGATGAACGG -3'
(R):5'- TGAGCCTAAGGGCAAAATGCCAC -3'
Sequencing Primer
(F):5'- GGATCTCATCAAGCATCAGTTTC -3'
(R):5'- TGGCATCCTTTGGAGAATCAC -3'
|
Posted On |
2013-05-23 |