Mutagenetix > Incidental Mutation

Incidental Mutation 'R9245:Mprip'

701243

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R9245 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59552973-59671686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59628403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 283 (E283D)

Ref Sequence

ENSEMBL: ENSMUSP00000119562 (fasta)

Gene Model

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

AlphaFold

P97434

Predicted Effect

probably benign
Transcript: ENSMUST00000066330

SMART Domains

Protein: ENSMUSP00000071081
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	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

possibly damaging
Transcript: ENSMUST00000133861
AA Change: E283D

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119562
Gene: ENSMUSG00000005417
AA Change: E283D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	A	11: 77,406,312 (GRCm39)	H96Q	possibly damaging	Het
Ankhd1	A	G	18: 36,788,653 (GRCm39)	Q411R		Het
Ankrd34c	A	T	9: 89,610,940 (GRCm39)	V467E	probably damaging	Het
Apobr	A	T	7: 126,186,507 (GRCm39)	R673*	probably null	Het
Arhgap18	T	C	10: 26,722,107 (GRCm39)	V98A	possibly damaging	Het
Arhgap30	G	T	1: 171,235,957 (GRCm39)	W777L	possibly damaging	Het
Atp8a1	A	G	5: 67,779,977 (GRCm39)	Y1154H	unknown	Het
B3gntl1	A	G	11: 121,514,770 (GRCm39)	F299S	possibly damaging	Het
Baz2a	C	T	10: 127,957,812 (GRCm39)	T1055I	probably benign	Het
Baz2b	T	C	2: 59,743,331 (GRCm39)	M1547V	probably benign	Het
Bsn	T	C	9: 107,993,292 (GRCm39)	D820G	probably damaging	Het
Castor1	T	A	11: 4,170,485 (GRCm39)	N160K	probably damaging	Het
Ccdc57	A	G	11: 120,812,578 (GRCm39)	Y59H	probably damaging	Het
Crim1	T	A	17: 78,651,871 (GRCm39)	C532S	probably damaging	Het
Csmd2	A	C	4: 128,200,168 (GRCm39)	D451A		Het
Cyp2d22	A	T	15: 82,256,748 (GRCm39)	I342K	probably damaging	Het
Des	A	T	1: 75,343,406 (GRCm39)	T430S	probably benign	Het
Dnah17	C	T	11: 118,016,503 (GRCm39)	V283I	probably benign	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dst	A	G	1: 34,228,943 (GRCm39)	S2179G	probably benign	Het
Elp1	C	A	4: 56,771,003 (GRCm39)	R980L	probably benign	Het
Esrp2	T	A	8: 106,858,775 (GRCm39)	T621S	possibly damaging	Het
Ext2	C	T	2: 93,534,836 (GRCm39)	V643I	probably benign	Het
Fastk	G	A	5: 24,649,172 (GRCm39)	P72S	probably benign	Het
Fbxo28	A	G	1: 182,145,566 (GRCm39)	I174T	possibly damaging	Het
Fstl3	C	T	10: 79,614,411 (GRCm39)	L38F	probably damaging	Het
Golgb1	C	T	16: 36,739,181 (GRCm39)	Q2548*	probably null	Het
Gstm3	T	C	3: 107,874,956 (GRCm39)	T99A	probably benign	Het
H2bc15	A	G	13: 21,938,369 (GRCm39)	D26G	unknown	Het
Hadh	T	C	3: 131,034,636 (GRCm39)	N220S	probably damaging	Het
Hnrnpab	T	C	11: 51,497,240 (GRCm39)	T51A	probably benign	Het
Immt	G	T	6: 71,823,350 (GRCm39)	W67L	probably benign	Het
Ints8	T	A	4: 11,213,811 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,643,826 (GRCm39)	V407A	probably damaging	Het
Kics2	A	T	10: 121,586,273 (GRCm39)	H196L	probably damaging	Het
Kif20b	T	C	19: 34,915,725 (GRCm39)	S501P	probably benign	Het
Krt39	T	G	11: 99,407,450 (GRCm39)	Q348P	probably damaging	Het
Lrp1b	T	A	2: 40,488,456 (GRCm39)	N4543I		Het
Macrod2	T	C	2: 141,652,534 (GRCm39)	V199A	probably benign	Het
Mast2	A	G	4: 116,167,701 (GRCm39)	V1052A	probably damaging	Het
Mfap4	T	C	11: 61,378,007 (GRCm39)	F149S	probably damaging	Het
Moap1	A	G	12: 102,708,526 (GRCm39)	V341A	unknown	Het
Mrgpra2a	A	G	7: 47,077,004 (GRCm39)	F85L	possibly damaging	Het
Mx1	T	A	16: 97,252,753 (GRCm39)		probably null	Het
Ndc80	A	T	17: 71,807,294 (GRCm39)	M554K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or52j3	A	T	7: 102,836,194 (GRCm39)	I129F	probably damaging	Het
Or5k1b	T	A	16: 58,581,126 (GRCm39)	K138*	probably null	Het
Or6c38	T	A	10: 128,929,472 (GRCm39)	I124F	probably damaging	Het
Pck1	C	T	2: 172,996,569 (GRCm39)	T161I	probably damaging	Het
Pclo	T	A	5: 14,726,959 (GRCm39)	M1939K	unknown	Het
Pcm1	T	A	8: 41,732,877 (GRCm39)	N711K	probably damaging	Het
Pkd2l1	A	G	19: 44,143,894 (GRCm39)	V393A	probably benign	Het
Pla2g15	G	T	8: 106,889,539 (GRCm39)	A229S	possibly damaging	Het
Plekhg1	G	A	10: 3,907,141 (GRCm39)	R741Q		Het
Plod1	A	G	4: 148,010,626 (GRCm39)	L275P	possibly damaging	Het
Plvap	G	T	8: 71,964,323 (GRCm39)	T13K	possibly damaging	Het
Plxna1	A	T	6: 89,314,320 (GRCm39)	I707N	probably damaging	Het
Pnma8b	A	G	7: 16,680,843 (GRCm39)	E609G	probably benign	Het
Ptger4	C	T	15: 5,273,193 (GRCm39)		probably benign	Het
Qars1	G	T	9: 108,386,132 (GRCm39)	E108*	probably null	Het
Rfpl4	C	A	7: 5,113,840 (GRCm39)	D114Y	probably damaging	Het
Rint1	A	G	5: 24,010,411 (GRCm39)	T207A	probably benign	Het
Rxfp1	A	G	3: 79,552,261 (GRCm39)	I680T	probably benign	Het
Skint2	A	T	4: 112,502,616 (GRCm39)	K275N	probably benign	Het
Slc29a3	A	G	10: 60,559,755 (GRCm39)	V133A	possibly damaging	Het
Slc9a2	A	G	1: 40,805,460 (GRCm39)	K680E	probably benign	Het
Smc1b	A	T	15: 85,004,846 (GRCm39)	F409L	probably benign	Het
Sos2	A	T	12: 69,695,239 (GRCm39)	M166K	probably damaging	Het
Spata31h1	T	C	10: 82,123,554 (GRCm39)	D3152G	probably benign	Het
Tead1	A	G	7: 112,358,723 (GRCm39)	I12V	probably benign	Het
Tead3	C	A	17: 28,551,709 (GRCm39)	K461N	probably benign	Het
Tex12	C	A	9: 50,468,772 (GRCm39)	A83S	probably damaging	Het
Top6bl	T	G	19: 4,746,068 (GRCm39)	K199Q	possibly damaging	Het
Ttc28	A	G	5: 111,325,525 (GRCm39)	T319A	unknown	Het
Ttn	T	C	2: 76,728,593 (GRCm39)	I5496V	unknown	Het
Tubb4a	T	A	17: 57,387,959 (GRCm39)	I356F	possibly damaging	Het
Txk	A	T	5: 72,891,610 (GRCm39)	W119R	probably damaging	Het
Txnl4a	A	T	18: 80,261,937 (GRCm39)	I58F	probably benign	Het
Uba6	A	T	5: 86,318,418 (GRCm39)	Y44N	probably damaging	Het
Usp40	T	C	1: 87,878,009 (GRCm39)	T1093A	probably benign	Het
Vmn1r194	T	C	13: 22,428,731 (GRCm39)	I116T	probably benign	Het
Vmn2r14	A	G	5: 109,368,176 (GRCm39)	M272T	possibly damaging	Het
Vmn2r85	C	A	10: 130,255,033 (GRCm39)	M550I	possibly damaging	Het
Vmn2r85	C	A	10: 130,261,534 (GRCm39)	V268F	probably damaging	Het
Vwa5b2	T	A	16: 20,416,890 (GRCm39)	V529E	probably damaging	Het
Zfp141	A	T	7: 42,124,821 (GRCm39)	Y550*	probably null	Het
Zik1	G	A	7: 10,224,156 (GRCm39)	L314F	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
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
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'- GGTCACCTAACCACATGGAC -3'
(R):5'- CATAAGCCAGCACTTAGTCCTG -3'

Sequencing Primer
(F):5'- AGATACTGGGGAGCACCTTTG -3'
(R):5'- AAGCCAGCACTTAGTCCTGTATCTG -3'

Posted On

2022-03-25