Mutagenetix > Incidental Mutation

Incidental Mutation 'R3003:Mprip'

257367

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

040532-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.669) question?

Stock #

R3003 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59552973-59671686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59618381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

Ref Sequence

ENSEMBL: ENSMUSP00000071081 (fasta)

Gene Model

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

AlphaFold

P97434

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066330
AA Change: T91A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: T91A

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: T91A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071914
Gene: ENSMUSG00000005417
AA Change: T91A

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: T91A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104382
Gene: ENSMUSG00000005417
AA Change: T91A

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: T91A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112072
Gene: ENSMUSG00000005417
AA Change: T91A

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

noncoding transcript
Transcript: ENSMUST00000138234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139530

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,254,393 (GRCm39)	V568A	probably damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adh6b	G	T	3: 138,063,532 (GRCm39)	L248F	possibly damaging	Het
Atg9b	G	T	5: 24,596,217 (GRCm39)	D192E	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Clptm1l	C	T	13: 73,765,875 (GRCm39)	T471I	possibly damaging	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klk1b11	T	C	7: 43,426,419 (GRCm39)	I51T	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Pfpl	T	C	19: 12,407,690 (GRCm39)	I647T	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Prr5	G	T	15: 84,656,031 (GRCm39)	C344F	probably damaging	Het
Rnf17	T	C	14: 56,738,004 (GRCm39)	W1262R	probably damaging	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Smarcd1	C	A	15: 99,610,065 (GRCm39)	P432Q	probably damaging	Het
Stat4	A	G	1: 52,142,145 (GRCm39)	D664G	probably damaging	Het
Suz12	T	A	11: 79,910,587 (GRCm39)	W313R	probably damaging	Het
Sycp2	T	C	2: 177,999,916 (GRCm39)	Y1020C	probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem81	A	G	1: 132,435,752 (GRCm39)	N186S	probably benign	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	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
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
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'- CAAGCCAGGACACTGTTCTC -3'
(R):5'- TGAGCAAACAGACAGTGCC -3'

Sequencing Primer
(F):5'- GCCAGGACACTGTTCTCCATGTAG -3'
(R):5'- AAACAGACAGTGCCTCCTGTGG -3'

Posted On

2015-01-11