Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00563:Mprip'

332620

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mprip

Ensembl Gene

ENSMUSG00000005417

Gene Name

myosin phosphatase Rho interacting protein

Synonyms

p116 Rho interacting protein, p116Rip, Gm34094, RIP3, Rhoip3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.669) question?

Stock #

IGL00563

Quality Score

Status

Chromosome

Chromosomal Location

59552973-59671686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59643443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 520 (R520W)

Ref Sequence

ENSEMBL: ENSMUSP00000119562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066330] [ENSMUST00000072031] [ENSMUST00000108751] [ENSMUST00000116371] [ENSMUST00000133861]

AlphaFold

P97434

Predicted Effect

probably damaging
Transcript: ENSMUST00000066330
AA Change: R498W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: R498W

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 damaging
Transcript: ENSMUST00000072031
AA Change: R534W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071914
Gene: ENSMUSG00000005417
AA Change: R534W

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 damaging
Transcript: ENSMUST00000108751
AA Change: R496W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104382
Gene: ENSMUSG00000005417
AA Change: R496W

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 damaging
Transcript: ENSMUST00000116371
AA Change: R534W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112072
Gene: ENSMUSG00000005417
AA Change: R534W

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 damaging
Transcript: ENSMUST00000132620
AA Change: R344W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119422
Gene: ENSMUSG00000005417
AA Change: R344W

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 damaging
Transcript: ENSMUST00000133861
AA Change: R520W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119562
Gene: ENSMUSG00000005417
AA Change: R520W

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

noncoding transcript
Transcript: ENSMUST00000153531

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 25,202,619 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,222,596 (GRCm39)		probably benign	Het
AU016765	C	A	17: 64,826,877 (GRCm39)		noncoding transcript	Het
Clstn2	A	G	9: 97,464,505 (GRCm39)		probably benign	Het
Crip1	T	A	12: 113,117,232 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Fktn	A	T	4: 53,747,007 (GRCm39)		probably null	Het
Fndc3a	C	A	14: 72,796,797 (GRCm39)		probably benign	Het
Focad	T	A	4: 88,267,046 (GRCm39)	M1019K	unknown	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gzmk	C	T	13: 113,309,658 (GRCm39)	V92I	probably benign	Het
Mrpl19	A	G	6: 81,942,853 (GRCm39)	V19A	probably benign	Het
Ndufb3	T	A	1: 58,634,958 (GRCm39)	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 110,382,779 (GRCm39)	V1675A	possibly damaging	Het
Saxo1	C	T	4: 86,363,809 (GRCm39)	E225K	probably damaging	Het
Sbno1	A	G	5: 124,540,268 (GRCm39)	S383P	probably damaging	Het
Slc22a29	T	A	19: 8,138,993 (GRCm39)	T490S	probably benign	Het
Smc6	T	A	12: 11,351,532 (GRCm39)	S854T	probably benign	Het
Smim23	T	C	11: 32,771,893 (GRCm39)	T58A	probably benign	Het
Tas2r134	T	C	2: 51,518,100 (GRCm39)	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,658 (GRCm39)		probably null	Het
Trav13n-4	T	G	14: 53,601,423 (GRCm39)	V64G	possibly damaging	Het
Trmt10a	G	A	3: 137,853,177 (GRCm39)	E13K	probably damaging	Het
Txndc11	T	C	16: 10,922,496 (GRCm39)	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,804,077 (GRCm39)	N442K	probably benign	Het
Vps13a	C	T	19: 16,712,078 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,366 (GRCm39)	D5G	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
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
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

Posted On

2015-08-05