Mutagenetix > Incidental Mutations

Incidental Mutation 'R5604:Mprip'

439200

Institutional Source

Beutler Lab

Gene Symbol

Mprip

Ensembl Gene

ENSMUSG00000005417

Gene Name

myosin phosphatase Rho interacting protein

Synonyms

p116Rip, Rhoip3, RIP3, p116 Rho interacting protein

MMRRC Submission

043156-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R5604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59661305-59780860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59758467 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 999 (V999D)

Ref Sequence

ENSEMBL: ENSMUSP00000071081 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066330
AA Change: V999D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: V999D

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

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

probably benign
Transcript: ENSMUST00000156111

SMART Domains

Protein: ENSMUSP00000114446
Gene: ENSMUSG00000005417

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,759,390	N164I	possibly damaging	Het
4933402J07Rik	C	A	8: 87,568,497	R88S	possibly damaging	Het
Abca1	A	T	4: 53,067,168		probably null	Het
Abca13	T	A	11: 9,566,279	I4406K	probably damaging	Het
Adam6b	T	A	12: 113,490,800	Y412*	probably null	Het
Ahcyl2	C	T	6: 29,908,367	H370Y	probably damaging	Het
Ahi1	A	G	10: 20,987,005	Y693C	probably damaging	Het
Anapc4	T	A	5: 52,841,734	Y129*	probably null	Het
Ankrd35	A	G	3: 96,684,899	T834A	probably benign	Het
Antxr2	T	C	5: 97,948,310	K372E	probably damaging	Het
Arhgef1	C	T	7: 24,912,785	H198Y	probably benign	Het
Barhl2	T	C	5: 106,455,546	E249G	probably benign	Het
C2cd5	T	C	6: 143,012,021	E987G	probably benign	Het
C87436	T	C	6: 86,447,355	S290P	probably benign	Het
Ccser1	C	T	6: 61,313,804	T490M	probably damaging	Het
Cd8b1	T	C	6: 71,326,175	V78A	probably benign	Het
Cdc25c	A	G	18: 34,733,648	Y374H	probably damaging	Het
Cmya5	C	T	13: 93,092,763	R1939H	probably benign	Het
Cyp2d40	A	G	15: 82,764,055	F19S	probably damaging	Het
Dll3	A	G	7: 28,294,632	V460A	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
E4f1	A	G	17: 24,444,144	I729T	probably damaging	Het
Endou	A	C	15: 97,720,919	S75A	probably benign	Het
Epas1	C	T	17: 86,805,772	H129Y	probably damaging	Het
Grm1	T	A	10: 10,746,735	N415Y	probably damaging	Het
Hdc	A	T	2: 126,594,663	S429R	probably benign	Het
Hnf4g	C	T	3: 3,657,126	Q447*	probably null	Het
Htr6	C	T	4: 139,061,503	A414T	probably benign	Het
Insig1	T	C	5: 28,075,082	L224P	probably damaging	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Irak2	T	A	6: 113,690,831	S458T	possibly damaging	Het
Irs2	A	G	8: 11,005,007	S1142P	possibly damaging	Het
Kirrel	T	A	3: 87,089,155	N379I	possibly damaging	Het
L3mbtl4	T	A	17: 68,777,922	D609E	probably benign	Het
Lama3	A	G	18: 12,439,348	T537A	probably benign	Het
Lce1i	A	T	3: 92,777,749	V40E	unknown	Het
Myd88	G	T	9: 119,339,763	T85K	possibly damaging	Het
Olfr395	T	A	11: 73,907,027	H155L	probably benign	Het
Padi6	A	T	4: 140,731,162	M473K	probably damaging	Het
Pcdh12	T	A	18: 38,268,882	S97C	probably damaging	Het
Pkd1l1	T	A	11: 8,833,877	D2026V	probably damaging	Het
Plcxd1	T	C	5: 110,102,585	V264A	probably benign	Het
Plekha4	T	C	7: 45,549,156	S558P	probably damaging	Het
Ppm1a	T	A	12: 72,790,681	M334K	probably benign	Het
Ppp1r13l	T	C	7: 19,375,599	S684P	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prl2a1	T	C	13: 27,806,386		probably benign	Het
Ptch1	T	C	13: 63,525,122	K753E	probably benign	Het
Qrich1	A	G	9: 108,559,303		probably null	Het
Ror2	G	A	13: 53,117,165	R373C	probably benign	Het
Rtn4	C	A	11: 29,708,140	L765I	probably damaging	Het
Sema3a	T	C	5: 13,473,520		probably null	Het
Setd2	T	A	9: 110,604,216	D62E	probably damaging	Het
Ss18	A	T	18: 14,636,520	Y327N	unknown	Het
Ticam1	G	A	17: 56,271,756	T113I	probably benign	Het
Tnrc6a	A	G	7: 123,174,236	I1134V	probably damaging	Het
Top3b	T	G	16: 16,889,535	Y526*	probably null	Het
Tph2	T	C	10: 115,090,709	E384G	probably damaging	Het
Ttll11	A	T	2: 35,817,786	I503N	probably benign	Het
Zfp87	T	G	13: 67,517,826	K172N	probably damaging	Het

Other mutations in Mprip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Mprip	APN	11	59748591	missense	probably benign	0.07
IGL00563:Mprip	APN	11	59752617	missense	probably damaging	1.00
IGL00905:Mprip	APN	11	59772168	missense	possibly damaging	0.79
IGL00928:Mprip	APN	11	59744752	missense	probably damaging	1.00
IGL01161:Mprip	APN	11	59731573	missense	possibly damaging	0.93
IGL01991:Mprip	APN	11	59755012	missense	probably damaging	0.99
IGL02491:Mprip	APN	11	59770031	missense	probably benign	0.13
IGL03030:Mprip	APN	11	59741115	splice site	probably null
IGL03056:Mprip	APN	11	59771692	missense	probably damaging	1.00
IGL03293:Mprip	APN	11	59696163	missense	probably damaging	1.00
R0049:Mprip	UTSW	11	59766745	missense	probably damaging	0.99
R0097:Mprip	UTSW	11	59758491	missense	possibly damaging	0.90
R0097:Mprip	UTSW	11	59758491	missense	possibly damaging	0.90
R0147:Mprip	UTSW	11	59737073	missense	possibly damaging	0.68
R0319:Mprip	UTSW	11	59697038	splice site	probably benign
R0471:Mprip	UTSW	11	59759735	missense	probably damaging	1.00
R0539:Mprip	UTSW	11	59741117	splice site	probably benign
R0627:Mprip	UTSW	11	59769972	missense	probably damaging	1.00
R0864:Mprip	UTSW	11	59758761	missense	probably benign
R1218:Mprip	UTSW	11	59743814	missense	probably damaging	1.00
R1469:Mprip	UTSW	11	59759190	missense	probably damaging	1.00
R1469:Mprip	UTSW	11	59759190	missense	probably damaging	1.00
R1695:Mprip	UTSW	11	59752531	missense	probably damaging	0.99
R1698:Mprip	UTSW	11	59760258	missense	possibly damaging	0.75
R1802:Mprip	UTSW	11	59755041	missense	probably damaging	1.00
R1837:Mprip	UTSW	11	59766745	missense	probably damaging	0.99
R1862:Mprip	UTSW	11	59758221	missense	possibly damaging	0.90
R2094:Mprip	UTSW	11	59749508	splice site	probably benign
R2107:Mprip	UTSW	11	59769891	missense	probably damaging	1.00
R2108:Mprip	UTSW	11	59769891	missense	probably damaging	1.00
R2510:Mprip	UTSW	11	59749508	splice site	probably benign
R3003:Mprip	UTSW	11	59727555	missense	possibly damaging	0.95
R3115:Mprip	UTSW	11	59765403	splice site	probably null
R3941:Mprip	UTSW	11	59731502	splice site	probably benign
R4347:Mprip	UTSW	11	59759453	missense	possibly damaging	0.86
R4603:Mprip	UTSW	11	59731573	missense	probably damaging	1.00
R4807:Mprip	UTSW	11	59758020	missense	probably benign	0.00
R5011:Mprip	UTSW	11	59759895	missense	possibly damaging	0.75
R5338:Mprip	UTSW	11	59760573	missense	probably damaging	1.00
R5549:Mprip	UTSW	11	59760818	missense	probably benign	0.00
R5569:Mprip	UTSW	11	59760963	missense	probably damaging	1.00
R5615:Mprip	UTSW	11	59758487	missense	probably benign	0.08
R5846:Mprip	UTSW	11	59758554	missense	probably damaging	1.00
R5970:Mprip	UTSW	11	59757721	missense	probably damaging	0.96
R6054:Mprip	UTSW	11	59758425	missense	probably benign
R6452:Mprip	UTSW	11	59752783	missense	probably damaging	1.00
R6457:Mprip	UTSW	11	59758989	missense	possibly damaging	0.69
R6544:Mprip	UTSW	11	59757726	missense	probably benign	0.15
R6750:Mprip	UTSW	11	59696131	missense	probably damaging	1.00
R6843:Mprip	UTSW	11	59759728	missense	possibly damaging	0.54
R6851:Mprip	UTSW	11	59759015	missense	probably damaging	0.99
R6867:Mprip	UTSW	11	59749630	critical splice donor site	probably null
R7002:Mprip	UTSW	11	59761190	missense	probably benign	0.22
R7023:Mprip	UTSW	11	59737389	missense	probably damaging	1.00
R7764:Mprip	UTSW	11	59764416	missense	probably damaging	0.99
R7765:Mprip	UTSW	11	59758221	missense	possibly damaging	0.90
R7828:Mprip	UTSW	11	59737089	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTAGCCCAGCATGTACAGAG -3'
(R):5'- TTGGCATCCTTTGGAGAATCACTC -3'

Sequencing Primer
(F):5'- GCATGTACAGAGCCTCCATGATG -3'
(R):5'- TCCTTTGGAGAATCACTCACAAAC -3'

Posted On

2016-10-26