Incidental Mutation 'R6750:Mprip'
ID |
530722 |
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 |
044867-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.669)
|
Stock # |
R6750 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59552973-59671686 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59586957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 43
(K43N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066330]
[ENSMUST00000072031]
[ENSMUST00000108751]
[ENSMUST00000116371]
|
AlphaFold |
P97434 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066330
AA Change: K43N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071081 Gene: ENSMUSG00000005417 AA Change: K43N
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 |
possibly damaging
Transcript: ENSMUST00000072031
AA Change: K43N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000071914 Gene: ENSMUSG00000005417 AA Change: K43N
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 |
possibly damaging
Transcript: ENSMUST00000108751
AA Change: K43N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104382 Gene: ENSMUSG00000005417 AA Change: K43N
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 |
possibly damaging
Transcript: ENSMUST00000116371
AA Change: K43N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112072 Gene: ENSMUSG00000005417 AA Change: K43N
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 |
noncoding transcript
Transcript: ENSMUST00000138234
|
Meta Mutation Damage Score |
0.1316 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
A |
T |
2: 120,973,130 (GRCm39) |
L62F |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,389,206 (GRCm39) |
P2375S |
probably benign |
Het |
Apob |
T |
A |
12: 8,047,853 (GRCm39) |
L931Q |
probably damaging |
Het |
Arcn1 |
A |
G |
9: 44,661,691 (GRCm39) |
V391A |
possibly damaging |
Het |
Ccdc162 |
A |
T |
10: 41,437,222 (GRCm39) |
I1729N |
possibly damaging |
Het |
Cd24a |
T |
C |
10: 43,458,721 (GRCm39) |
L86P |
unknown |
Het |
Cdcp3 |
T |
A |
7: 130,889,974 (GRCm39) |
|
probably benign |
Het |
Churc1 |
C |
A |
12: 76,822,405 (GRCm39) |
H71Q |
probably damaging |
Het |
Clcn3 |
A |
G |
8: 61,367,809 (GRCm39) |
L780P |
possibly damaging |
Het |
Cldn17 |
C |
T |
16: 88,303,195 (GRCm39) |
G178E |
possibly damaging |
Het |
Cmah |
A |
G |
13: 24,648,235 (GRCm39) |
Y345C |
probably damaging |
Het |
Cntnap5b |
C |
T |
1: 100,202,224 (GRCm39) |
S357L |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,660,879 (GRCm39) |
I410T |
probably damaging |
Het |
Crmp1 |
T |
C |
5: 37,422,666 (GRCm39) |
|
probably null |
Het |
Csmd2 |
A |
C |
4: 128,091,018 (GRCm39) |
N186H |
possibly damaging |
Het |
Cyp1a1 |
A |
T |
9: 57,607,539 (GRCm39) |
M56L |
probably benign |
Het |
D2hgdh |
G |
C |
1: 93,754,129 (GRCm39) |
R56P |
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,128,034 (GRCm39) |
E104G |
probably damaging |
Het |
Dld |
T |
C |
12: 31,382,213 (GRCm39) |
N498S |
probably benign |
Het |
Dyrk4 |
G |
T |
6: 126,875,918 (GRCm39) |
Q106K |
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,347,304 (GRCm39) |
I333V |
probably damaging |
Het |
F5 |
A |
G |
1: 164,021,076 (GRCm39) |
T1184A |
possibly damaging |
Het |
Fbxl6 |
C |
T |
15: 76,422,612 (GRCm39) |
G102D |
probably damaging |
Het |
Foxa1 |
C |
T |
12: 57,589,396 (GRCm39) |
G275R |
probably benign |
Het |
Fryl |
A |
G |
5: 73,179,575 (GRCm39) |
I2944T |
probably damaging |
Het |
Gna15 |
T |
C |
10: 81,350,117 (GRCm39) |
D95G |
probably benign |
Het |
Greb1 |
T |
A |
12: 16,738,584 (GRCm39) |
M1460L |
probably benign |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,747,195 (GRCm39) |
I444T |
probably damaging |
Het |
Ifngr1 |
T |
A |
10: 19,485,099 (GRCm39) |
M366K |
probably benign |
Het |
Krt27 |
C |
T |
11: 99,239,806 (GRCm39) |
E253K |
probably damaging |
Het |
Mical2 |
C |
T |
7: 111,981,046 (GRCm39) |
T406I |
probably damaging |
Het |
Mocs2 |
T |
G |
13: 114,962,784 (GRCm39) |
D156E |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,750,106 (GRCm39) |
T190S |
possibly damaging |
Het |
Naa25 |
C |
T |
5: 121,546,372 (GRCm39) |
T86M |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,478,639 (GRCm39) |
D163G |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,329,468 (GRCm39) |
Y908* |
probably null |
Het |
Nlrp9b |
T |
A |
7: 19,757,159 (GRCm39) |
L132* |
probably null |
Het |
Nrg1 |
A |
C |
8: 32,308,124 (GRCm39) |
S679A |
probably damaging |
Het |
Or1j1 |
C |
A |
2: 36,702,954 (GRCm39) |
R50M |
possibly damaging |
Het |
Or52p1 |
C |
T |
7: 104,267,320 (GRCm39) |
R145C |
probably damaging |
Het |
Paqr9 |
A |
T |
9: 95,443,050 (GRCm39) |
T347S |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,647,501 (GRCm39) |
L210P |
probably damaging |
Het |
Pdzd7 |
T |
G |
19: 45,016,187 (GRCm39) |
D978A |
probably benign |
Het |
Phf8-ps |
A |
T |
17: 33,285,372 (GRCm39) |
S477T |
possibly damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,923,217 (GRCm39) |
S17T |
unknown |
Het |
Plcz1 |
T |
C |
6: 139,974,164 (GRCm39) |
K93E |
possibly damaging |
Het |
Pom121l2 |
G |
C |
13: 22,166,107 (GRCm39) |
R126P |
probably damaging |
Het |
Prkg1 |
C |
T |
19: 31,741,961 (GRCm39) |
E88K |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,803,203 (GRCm39) |
D15V |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,088,928 (GRCm39) |
V625A |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,992,290 (GRCm39) |
S106N |
probably damaging |
Het |
Rasa4 |
A |
G |
5: 136,129,802 (GRCm39) |
T261A |
probably benign |
Het |
Sardh |
T |
C |
2: 27,118,269 (GRCm39) |
D487G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,330,030 (GRCm39) |
Y662H |
probably benign |
Het |
Sema3d |
T |
A |
5: 12,635,067 (GRCm39) |
L711* |
probably null |
Het |
Septin14 |
T |
A |
5: 129,773,181 (GRCm39) |
Y152F |
probably damaging |
Het |
Smc5 |
A |
G |
19: 23,220,004 (GRCm39) |
L411P |
probably damaging |
Het |
Spata31e5 |
C |
A |
1: 28,816,495 (GRCm39) |
E512D |
probably damaging |
Het |
Spg7 |
T |
A |
8: 123,800,650 (GRCm39) |
V39E |
probably damaging |
Het |
Tas2r117 |
A |
G |
6: 132,779,817 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
T |
4: 72,040,687 (GRCm39) |
I631N |
probably damaging |
Het |
Tmed3 |
T |
A |
9: 89,581,843 (GRCm39) |
S207C |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,939,022 (GRCm39) |
P51S |
probably benign |
Het |
Trpc3 |
A |
G |
3: 36,678,542 (GRCm39) |
Y848H |
probably damaging |
Het |
Tsen2 |
T |
C |
6: 115,526,881 (GRCm39) |
F66S |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 86,003,384 (GRCm39) |
S216R |
probably damaging |
Het |
Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,875,114 (GRCm39) |
N621S |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,856,539 (GRCm39) |
T521A |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 32,986,739 (GRCm39) |
D173E |
probably damaging |
Het |
Zfp317 |
G |
A |
9: 19,559,100 (GRCm39) |
G438D |
probably damaging |
Het |
Zscan10 |
T |
A |
17: 23,826,164 (GRCm39) |
S109T |
possibly damaging |
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 |
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'- AGGTTTTCAGATGTCCTCAGG -3'
(R):5'- GACTCTGTTCCTCAGGTTCCAG -3'
Sequencing Primer
(F):5'- TGTGTTTCCCTAAGCATACCACAAG -3'
(R):5'- AGGTTCCAGTGTTTACCTCCTG -3'
|
Posted On |
2018-08-01 |