Incidental Mutation 'R6544:Mprip'
ID |
521037 |
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 |
044670-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.669)
|
Stock # |
R6544 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59552973-59671686 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59648552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 752
(G752D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066330]
[ENSMUST00000072031]
[ENSMUST00000108751]
[ENSMUST00000116371]
[ENSMUST00000133861]
|
AlphaFold |
P97434 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066330
AA Change: G752D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000071081 Gene: ENSMUSG00000005417 AA Change: G752D
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005K14Rik |
T |
A |
1: 83,036,678 (GRCm39) |
K118* |
probably null |
Het |
Actr2 |
A |
G |
11: 20,050,933 (GRCm39) |
F17L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,974,818 (GRCm39) |
I61M |
probably damaging |
Het |
Ahcyl |
A |
C |
16: 45,975,147 (GRCm39) |
S77A |
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,746,829 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,919,675 (GRCm39) |
L145P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,871 (GRCm39) |
T808A |
probably damaging |
Het |
Ark2c |
T |
A |
18: 77,650,931 (GRCm39) |
|
probably benign |
Het |
Cadm3 |
A |
G |
1: 173,194,977 (GRCm39) |
|
probably null |
Het |
Cog7 |
C |
T |
7: 121,534,966 (GRCm39) |
R573Q |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,407,385 (GRCm39) |
I2110F |
probably damaging |
Het |
Fbxo47 |
G |
A |
11: 97,747,089 (GRCm39) |
R326C |
probably damaging |
Het |
Frmpd1 |
A |
T |
4: 45,279,024 (GRCm39) |
D583V |
probably damaging |
Het |
Gigyf1 |
T |
A |
5: 137,523,321 (GRCm39) |
L911Q |
probably damaging |
Het |
Gprin1 |
G |
A |
13: 54,888,124 (GRCm39) |
A50V |
possibly damaging |
Het |
Grik4 |
A |
T |
9: 42,459,024 (GRCm39) |
Y571* |
probably null |
Het |
Gucy2e |
A |
G |
11: 69,126,483 (GRCm39) |
V299A |
probably benign |
Het |
Hectd2 |
C |
T |
19: 36,589,728 (GRCm39) |
L618F |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,360,300 (GRCm39) |
I160F |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,577,434 (GRCm39) |
V186D |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,624 (GRCm39) |
H448R |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,398,113 (GRCm39) |
I502T |
probably benign |
Het |
Mok |
A |
G |
12: 110,777,189 (GRCm39) |
F239S |
probably damaging |
Het |
Naip5 |
C |
A |
13: 100,359,652 (GRCm39) |
G528V |
possibly damaging |
Het |
Neu2 |
T |
C |
1: 87,524,464 (GRCm39) |
W150R |
probably damaging |
Het |
Or1ak2 |
T |
A |
2: 36,827,539 (GRCm39) |
M136K |
possibly damaging |
Het |
Or5an1 |
T |
C |
19: 12,260,519 (GRCm39) |
Y36H |
probably damaging |
Het |
Or5as1 |
T |
A |
2: 86,980,207 (GRCm39) |
Y266F |
probably damaging |
Het |
Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,830 (GRCm39) |
Y224N |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,758,399 (GRCm39) |
E5G |
probably damaging |
Het |
Pspc1 |
T |
C |
14: 57,001,660 (GRCm39) |
*59W |
probably null |
Het |
Ptprq |
T |
C |
10: 107,444,102 (GRCm39) |
T1501A |
probably damaging |
Het |
Rorb |
G |
T |
19: 18,929,614 (GRCm39) |
P304T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,514,444 (GRCm39) |
L1110Q |
probably damaging |
Het |
Serpine2 |
C |
T |
1: 79,780,847 (GRCm39) |
|
probably null |
Het |
Slco1c1 |
A |
G |
6: 141,477,170 (GRCm39) |
|
probably null |
Het |
Smarca2 |
T |
A |
19: 26,608,331 (GRCm39) |
V130D |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,655 (GRCm39) |
P117T |
possibly damaging |
Het |
Sparcl1 |
A |
T |
5: 104,240,310 (GRCm39) |
Y371* |
probably null |
Het |
Tdpoz2 |
T |
C |
3: 93,559,267 (GRCm39) |
D235G |
possibly damaging |
Het |
Tns2 |
A |
C |
15: 102,022,269 (GRCm39) |
K1182N |
possibly damaging |
Het |
Tpte |
G |
T |
8: 22,805,121 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,799,503 (GRCm39) |
I459K |
possibly damaging |
Het |
Wdr97 |
T |
C |
15: 76,242,478 (GRCm39) |
Y823H |
probably benign |
Het |
Zc3h15 |
G |
A |
2: 83,491,492 (GRCm39) |
R240H |
probably benign |
Het |
Zfp455 |
C |
A |
13: 67,355,121 (GRCm39) |
L130I |
probably benign |
Het |
Zfp777 |
A |
T |
6: 48,021,419 (GRCm39) |
S68T |
probably 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 |
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'- TTTTAAGACTGAAGTGGCCACCTC -3'
(R):5'- TGTCTTCTCTAACAGCCGGG -3'
Sequencing Primer
(F):5'- GAAGTGGCCACCTCTCCATC -3'
(R):5'- TAACAGCCGGGCTTCTGTAC -3'
|
Posted On |
2018-06-06 |