Mutagenetix > Incidental Mutation

Incidental Mutation 'R2108:Mprip'

232286

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

040112-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.669) question?

Stock #

R2108 (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 59660717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 2166 (K2166R)

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: K2166R

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

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: K2166R

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: K934R

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071914
Gene: ENSMUSG00000005417
AA Change: K934R

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: K896R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104382
Gene: ENSMUSG00000005417
AA Change: K896R

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: K934R

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112072
Gene: ENSMUSG00000005417
AA Change: K934R

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
AA Change: K744R

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119422
Gene: ENSMUSG00000005417
AA Change: K744R

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: K920R

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

SMART Domains

Protein: ENSMUSP00000119562
Gene: ENSMUSG00000005417
AA Change: K920R

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: K407R

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114446
Gene: ENSMUSG00000005417
AA Change: K407R

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

0.0732

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd10	A	G	16: 45,552,303 (GRCm39)	M190T	probably benign	Het
Abhd5	A	G	9: 122,207,005 (GRCm39)	Y250C	probably damaging	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Adamtsl2	A	G	2: 26,985,570 (GRCm39)	M485V	probably benign	Het
Adamtsl4	G	T	3: 95,588,357 (GRCm39)	P577H	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Apc	T	C	18: 34,402,282 (GRCm39)	Y141H	probably damaging	Het
Arsi	A	T	18: 61,049,443 (GRCm39)	T109S	possibly damaging	Het
Asb3	G	A	11: 31,031,355 (GRCm39)		probably null	Het
Atm	T	C	9: 53,355,297 (GRCm39)	D2899G	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Bub1	T	C	2: 127,661,255 (GRCm39)	K279E	probably damaging	Het
C3	A	T	17: 57,530,974 (GRCm39)		probably null	Het
Cabcoco1	T	C	10: 68,267,153 (GRCm39)	K185E	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccr3	T	C	9: 123,829,336 (GRCm39)	S224P	possibly damaging	Het
Cdhr4	A	G	9: 107,874,843 (GRCm39)	T638A	probably damaging	Het
Cfap46	T	C	7: 139,263,677 (GRCm39)	I4V	probably benign	Het
Csf2rb2	A	T	15: 78,176,744 (GRCm39)	V216E	probably damaging	Het
Csmd3	A	T	15: 47,868,257 (GRCm39)	D754E	possibly damaging	Het
Dnaaf1	T	C	8: 120,309,471 (GRCm39)		probably null	Het
Dnah11	A	C	12: 117,984,088 (GRCm39)	Y2466D	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
E2f7	T	C	10: 110,616,763 (GRCm39)	Y668H	probably benign	Het
Ehmt1	A	T	2: 24,727,630 (GRCm39)	S735T	probably damaging	Het
Eomes	T	C	9: 118,307,920 (GRCm39)	F65L	probably benign	Het
Ercc6l2	T	C	13: 64,019,802 (GRCm39)		probably benign	Het
Fbrsl1	A	T	5: 110,526,300 (GRCm39)	L439Q	probably damaging	Het
Fyco1	C	T	9: 123,626,581 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,291,950 (GRCm39)	T229A	probably benign	Het
Gm7735	G	A	16: 88,966,433 (GRCm39)	G19D	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpr6	T	A	10: 40,946,649 (GRCm39)	Y311F	possibly damaging	Het
Gprc6a	A	T	10: 51,491,304 (GRCm39)	V744E	probably damaging	Het
Grin3a	C	T	4: 49,665,510 (GRCm39)	D1042N	possibly damaging	Het
Gstm3	A	G	3: 107,873,450 (GRCm39)	C174R	probably damaging	Het
Hectd4	A	G	5: 121,471,487 (GRCm39)	E2670G	possibly damaging	Het
Hsd3b6	A	T	3: 98,713,503 (GRCm39)	Y265*	probably null	Het
Hus1	T	A	11: 8,961,110 (GRCm39)	M1L	probably null	Het
Idi2l	G	A	13: 8,991,764 (GRCm39)	P221S	possibly damaging	Het
Ifi213	T	G	1: 173,396,668 (GRCm39)		probably null	Het
Igf2r	A	C	17: 12,917,138 (GRCm39)	N1587K	probably benign	Het
Ints1	A	T	5: 139,753,505 (GRCm39)	V709E	probably damaging	Het
Ints8	C	A	4: 11,235,552 (GRCm39)	R359L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	C	T	2: 41,000,769 (GRCm39)	E2152K	probably damaging	Het
Lrp2	A	T	2: 69,336,968 (GRCm39)	V1268D	possibly damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nfxl1	C	A	5: 72,671,675 (GRCm39)		probably null	Het
Nrp2	T	A	1: 62,783,436 (GRCm39)	I179N	probably damaging	Het
Nup153	A	G	13: 46,846,986 (GRCm39)		probably null	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or2g7	G	T	17: 38,378,746 (GRCm39)	R228L	possibly damaging	Het
Or5p54	A	T	7: 107,554,709 (GRCm39)	H287L	probably benign	Het
Or6c6c	A	T	10: 129,541,490 (GRCm39)	I248L	probably benign	Het
Or8g27	A	T	9: 39,129,318 (GRCm39)	I222F	probably damaging	Het
P2ry12	A	T	3: 59,124,774 (GRCm39)	D300E	probably damaging	Het
Pkhd1	C	A	1: 20,623,798 (GRCm39)	G766*	probably null	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Prkcq	A	T	2: 11,237,380 (GRCm39)	Y53F	probably damaging	Het
Psg18	T	C	7: 18,084,799 (GRCm39)	E99G	probably damaging	Het
Ptprz1	T	A	6: 23,033,476 (GRCm39)	H1921Q	probably damaging	Het
Rcc1l	A	G	5: 134,184,629 (GRCm39)	V391A	probably benign	Het
Sdr42e1	C	T	8: 118,391,763 (GRCm39)	V11I	probably damaging	Het
Slc12a3	C	A	8: 95,067,158 (GRCm39)	N404K	probably damaging	Het
Slc38a4	T	C	15: 96,906,878 (GRCm39)	M287V	probably benign	Het
Slc6a8	A	T	X: 72,720,492 (GRCm39)	I96F	possibly damaging	Het
Smyd2	A	G	1: 189,629,623 (GRCm39)	S136P	probably damaging	Het
Sox11	A	G	12: 27,391,702 (GRCm39)	Y236H	probably damaging	Het
Tbc1d2	G	A	4: 46,637,652 (GRCm39)	P198L	possibly damaging	Het
Tcof1	G	T	18: 60,968,845 (GRCm39)	A256E	probably damaging	Het
Tenm4	A	G	7: 96,555,497 (GRCm39)	Y2726C	probably damaging	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tril	T	C	6: 53,796,068 (GRCm39)	T385A	probably damaging	Het
Trrap	A	G	5: 144,762,684 (GRCm39)	T2386A	probably benign	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Uba7	A	G	9: 107,856,487 (GRCm39)	M595V	probably benign	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vmn2r69	T	C	7: 85,059,404 (GRCm39)	I502V	probably benign	Het
Vps13d	C	A	4: 144,801,617 (GRCm39)	G419C	probably damaging	Het
Zbtb25	A	T	12: 76,396,880 (GRCm39)	M114K	probably benign	Het
Zcchc4	A	G	5: 52,953,474 (GRCm39)	Y161C	probably damaging	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het
Zfp326	A	G	5: 106,062,646 (GRCm39)		probably benign	Het
Zfp395	T	A	14: 65,630,565 (GRCm39)	S372T	probably benign	Het
Zfp423	T	A	8: 88,507,806 (GRCm39)	E825V	possibly damaging	Het
Zfp445	A	T	9: 122,681,305 (GRCm39)	Y879N	probably benign	Het
Zfp451	A	G	1: 33,818,248 (GRCm39)	I77T	possibly damaging	Het
Zfp85	A	T	13: 67,897,003 (GRCm39)	S356R	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
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'- TCCCTGACTGACTTCCACAAGG -3'
(R):5'- GTGCCAAAACATCTTCACGAG -3'

Sequencing Primer
(F):5'- TCCACAAGGAACTGTTAGACAG -3'
(R):5'- TCTTCACGAGGAGCACCCAG -3'

Posted On

2014-09-18