Mutagenetix > Incidental Mutation

Incidental Mutation 'R0864:Mprip'

82260

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

039038-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R0864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59552973-59671686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59649587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1097 (V1097A)

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: V1097A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: V1097A

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: 99.8%
3x: 99.1%
10x: 97.3%
20x: 93.8%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,784,798 (GRCm39)		probably benign	Het
Alx4	A	G	2: 93,473,200 (GRCm39)	Y66C	probably damaging	Het
Apol7e	T	A	15: 77,601,993 (GRCm39)	V197E	probably damaging	Het
Chac1	C	A	2: 119,183,950 (GRCm39)	A184E	probably damaging	Het
Clmn	G	A	12: 104,756,274 (GRCm39)	T192I	possibly damaging	Het
Csmd1	T	A	8: 16,240,040 (GRCm39)	Y1124F	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
D430041D05Rik	G	A	2: 104,060,773 (GRCm39)	P1374S	possibly damaging	Het
Dyrk4	T	C	6: 126,854,296 (GRCm39)	E499G	possibly damaging	Het
Fat1	T	A	8: 45,471,074 (GRCm39)	I1603N	probably damaging	Het
Fbn1	A	T	2: 125,184,811 (GRCm39)	C1660*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Hpn	T	C	7: 30,808,426 (GRCm39)	I41V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Map4	A	G	9: 109,808,037 (GRCm39)	Y34C	probably damaging	Het
Mapk8	C	T	14: 33,114,949 (GRCm39)	R189H	probably damaging	Het
Msh2	A	G	17: 87,987,480 (GRCm39)	T207A	probably benign	Het
Muc4	A	G	16: 32,570,820 (GRCm39)	S627G	probably benign	Het
Nbeal2	G	A	9: 110,457,263 (GRCm39)	T2266I	probably damaging	Het
Pdcd6ip	A	T	9: 113,503,578 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,918,759 (GRCm39)	Y339H	probably damaging	Het
Piwil2	T	C	14: 70,632,823 (GRCm39)	D583G	probably benign	Het
Plin4	T	A	17: 56,410,966 (GRCm39)	M1022L	probably benign	Het
Pmpca	G	A	2: 26,283,221 (GRCm39)		probably null	Het
Rbbp4	G	T	4: 129,214,344 (GRCm39)		probably benign	Het
Rbbp8	G	A	18: 11,865,241 (GRCm39)		probably benign	Het
Rbms3	A	T	9: 117,458,860 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,266,049 (GRCm39)	S726T	possibly damaging	Het
Supt4a	T	A	11: 87,633,913 (GRCm39)	S88T	probably benign	Het
Tmem245	G	T	4: 56,890,837 (GRCm39)	H321Q	probably damaging	Het
Trim43c	A	T	9: 88,725,087 (GRCm39)	H202L	probably benign	Het
Trip12	A	G	1: 84,721,730 (GRCm39)	F1334S	probably damaging	Het
Vmn1r36	T	C	6: 66,693,840 (GRCm39)	T12A	probably null	Het
Ywhae	T	G	11: 75,650,256 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,154,104 (GRCm39)	S131T	probably damaging	Het
Zfp280b	C	T	10: 75,874,139 (GRCm39)	T6M	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
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'- AATGATTGCCTTGGGCAGCAGC -3'
(R):5'- AGCCTCACAGTTACGTCTTTGAGC -3'

Sequencing Primer
(F):5'- CTTGGGCAGCAGCTTAGAG -3'
(R):5'- GTAGCTTCTGAGGACACACTATC -3'

Posted On

2013-11-08