Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03056:Mprip'

409230

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: 0.523) question?

Stock #

IGL03056

Quality Score

Status

Chromosome

Chromosomal Location

59552973-59671686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59662518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 2243 (I2243N)

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: I2243N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: I2243N

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: I1011N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071914
Gene: ENSMUSG00000005417
AA Change: I1011N

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: I973N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104382
Gene: ENSMUSG00000005417
AA Change: I973N

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: I1011N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112072
Gene: ENSMUSG00000005417
AA Change: I1011N

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: ENSMUST00000123949

Predicted Effect

probably benign
Transcript: ENSMUST00000132620
AA Change: I821N

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119422
Gene: ENSMUSG00000005417
AA Change: I821N

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: I997N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119562
Gene: ENSMUSG00000005417
AA Change: I997N

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

possibly damaging
Transcript: ENSMUST00000156111
AA Change: I484N

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114446
Gene: ENSMUSG00000005417
AA Change: I484N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,647,862 (GRCm39)	H1118R	probably damaging	Het
Aff1	G	A	5: 103,958,947 (GRCm39)	V339I	probably damaging	Het
Ank1	G	T	8: 23,631,195 (GRCm39)	V107F	probably damaging	Het
Aox3	T	C	1: 58,198,180 (GRCm39)		probably null	Het
Cd160	T	C	3: 96,713,127 (GRCm39)	T46A	probably benign	Het
Cimip2a	T	A	2: 25,111,367 (GRCm39)	M232K	possibly damaging	Het
Col20a1	A	T	2: 180,636,682 (GRCm39)	Y221F	probably damaging	Het
Ddx18	C	T	1: 121,492,264 (GRCm39)	A148T	probably benign	Het
Dennd5b	A	G	6: 148,956,570 (GRCm39)	M307T	probably damaging	Het
Fam216b	G	A	14: 78,320,223 (GRCm39)	H86Y	probably benign	Het
Fh1	A	T	1: 175,433,728 (GRCm39)	C374S	probably damaging	Het
Fkbp14	A	G	6: 54,556,529 (GRCm39)	V207A	probably benign	Het
Gucy1a1	T	C	3: 82,020,594 (GRCm39)	K101R	probably benign	Het
Kcnk2	G	T	1: 189,027,908 (GRCm39)	Q116K	possibly damaging	Het
Kdm5b	C	A	1: 134,515,717 (GRCm39)	Q114K	probably damaging	Het
Kif12	C	T	4: 63,085,193 (GRCm39)	R516Q	probably null	Het
Lca5l	C	T	16: 95,962,551 (GRCm39)	C463Y	probably benign	Het
Lgsn	T	A	1: 31,242,705 (GRCm39)	Y262*	probably null	Het
Lig4	A	G	8: 10,022,580 (GRCm39)	I400T	possibly damaging	Het
Mink1	T	A	11: 70,503,409 (GRCm39)		probably null	Het
Myo1f	A	T	17: 33,804,574 (GRCm39)	Y426F	probably damaging	Het
Naip2	T	A	13: 100,298,795 (GRCm39)	S414C	possibly damaging	Het
Nrg1	T	C	8: 32,311,451 (GRCm39)	I363V	possibly damaging	Het
Or4f54	A	T	2: 111,123,517 (GRCm39)	R301S	possibly damaging	Het
Or52r1b	A	T	7: 102,690,958 (GRCm39)	I86L	possibly damaging	Het
Serpinb9d	T	C	13: 33,386,736 (GRCm39)	V268A	probably damaging	Het
Slc15a1	A	G	14: 121,728,695 (GRCm39)	F17L	possibly damaging	Het
Slc9a3	T	A	13: 74,298,938 (GRCm39)	V119E	probably damaging	Het
Sspo	T	A	6: 48,447,472 (GRCm39)	M2346K	probably benign	Het
Tcf4	G	T	18: 69,784,283 (GRCm39)		probably benign	Het
Trabd2b	T	C	4: 114,266,535 (GRCm39)	V183A	probably damaging	Het
Ust	T	C	10: 8,083,326 (GRCm39)	H350R	probably benign	Het
Zfp952	T	A	17: 33,221,740 (GRCm39)	V35E	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
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

2016-08-02