Incidental Mutation 'R5970:Mprip'
ID |
470810 |
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 |
044153-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.669)
|
Stock # |
R5970 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59552973-59671686 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59648547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 750
(R750S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066330]
[ENSMUST00000072031]
[ENSMUST00000108751]
[ENSMUST00000116371]
[ENSMUST00000133861]
|
AlphaFold |
P97434 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066330
AA Change: R750S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071081 Gene: ENSMUSG00000005417 AA Change: R750S
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l1 |
G |
A |
6: 90,574,028 (GRCm39) |
|
probably benign |
Het |
Ambn |
T |
C |
5: 88,615,810 (GRCm39) |
V413A |
possibly damaging |
Het |
Amotl1 |
T |
A |
9: 14,507,824 (GRCm39) |
D41V |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,247,468 (GRCm39) |
V184A |
probably benign |
Het |
Birc6 |
G |
T |
17: 74,925,497 (GRCm39) |
G936V |
possibly damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,226 (GRCm39) |
S130T |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,697,868 (GRCm39) |
I56V |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,821,570 (GRCm39) |
I486T |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,694,050 (GRCm39) |
I1557V |
possibly damaging |
Het |
Col6a5 |
T |
A |
9: 105,823,046 (GRCm39) |
I104F |
unknown |
Het |
Cry2 |
A |
G |
2: 92,243,312 (GRCm39) |
S510P |
probably benign |
Het |
Csmd2 |
G |
C |
4: 128,439,944 (GRCm39) |
A3133P |
probably benign |
Het |
Cyld |
G |
T |
8: 89,459,621 (GRCm39) |
A611S |
probably damaging |
Het |
Dennd4c |
G |
A |
4: 86,743,749 (GRCm39) |
G1197E |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,885,793 (GRCm39) |
F2969L |
probably benign |
Het |
Dnai1 |
A |
G |
4: 41,625,281 (GRCm39) |
K415R |
probably benign |
Het |
Dnmbp |
T |
A |
19: 43,842,610 (GRCm39) |
T1253S |
probably benign |
Het |
Dsp |
T |
C |
13: 38,379,678 (GRCm39) |
L1542P |
possibly damaging |
Het |
Duox1 |
T |
A |
2: 122,170,682 (GRCm39) |
L1234Q |
probably damaging |
Het |
Efr3b |
T |
A |
12: 4,018,590 (GRCm39) |
R585S |
possibly damaging |
Het |
Gpt |
A |
G |
15: 76,583,552 (GRCm39) |
|
probably null |
Het |
Heatr6 |
G |
A |
11: 83,644,544 (GRCm39) |
|
probably benign |
Het |
Kcns2 |
A |
G |
15: 34,839,930 (GRCm39) |
D431G |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,962,342 (GRCm39) |
N1543D |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Mical3 |
G |
A |
6: 120,935,232 (GRCm39) |
Q893* |
probably null |
Het |
Morc3 |
C |
T |
16: 93,663,341 (GRCm39) |
H515Y |
possibly damaging |
Het |
Mroh1 |
G |
A |
15: 76,335,691 (GRCm39) |
V1436M |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,344,406 (GRCm39) |
R69* |
probably null |
Het |
Muc5b |
A |
T |
7: 141,410,449 (GRCm39) |
Y1274F |
unknown |
Het |
Mybpc1 |
A |
G |
10: 88,378,318 (GRCm39) |
L674P |
probably damaging |
Het |
Mypn |
A |
G |
10: 62,966,802 (GRCm39) |
V958A |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,326,302 (GRCm39) |
T2436A |
probably benign |
Het |
Or7g20 |
A |
G |
9: 18,946,443 (GRCm39) |
D8G |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,454,826 (GRCm39) |
L402Q |
probably damaging |
Het |
Pigp |
T |
A |
16: 94,171,053 (GRCm39) |
|
probably null |
Het |
Rp1 |
A |
G |
1: 4,418,685 (GRCm39) |
L809P |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,325,125 (GRCm39) |
|
probably benign |
Het |
Sdf2 |
A |
T |
11: 78,136,906 (GRCm39) |
M29L |
probably benign |
Het |
Serpina3b |
T |
G |
12: 104,100,350 (GRCm39) |
L311V |
possibly damaging |
Het |
Snx31 |
A |
T |
15: 36,523,634 (GRCm39) |
Y349* |
probably null |
Het |
Spidr |
A |
C |
16: 15,932,733 (GRCm39) |
C182W |
probably damaging |
Het |
St13 |
A |
T |
15: 81,261,999 (GRCm39) |
S146R |
probably damaging |
Het |
St8sia4 |
A |
G |
1: 95,581,307 (GRCm39) |
V145A |
probably damaging |
Het |
Stradb |
T |
C |
1: 59,019,175 (GRCm39) |
|
probably null |
Het |
Tcp11l2 |
T |
A |
10: 84,430,661 (GRCm39) |
|
probably benign |
Het |
Tfdp2 |
C |
T |
9: 96,199,627 (GRCm39) |
P74S |
unknown |
Het |
Tmprss15 |
C |
T |
16: 78,854,547 (GRCm39) |
R287H |
probably benign |
Het |
Trav10d |
T |
C |
14: 53,048,779 (GRCm39) |
Y57H |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,249,733 (GRCm39) |
I846T |
probably benign |
Het |
Ywhah |
T |
A |
5: 33,184,292 (GRCm39) |
M165K |
possibly damaging |
Het |
Zfp324 |
C |
A |
7: 12,703,293 (GRCm39) |
P72T |
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 |
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'- TTAAGACTGAAGTGGCCACC -3'
(R):5'- TGTGTCTTCTCTAACAGCCGG -3'
Sequencing Primer
(F):5'- GAAGTGGCCACCTCTCCATC -3'
(R):5'- TAACAGCCGGGCTTCTGTAC -3'
|
Posted On |
2017-03-31 |