Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03293:Mprip'

415987

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mprip

Ensembl Gene

ENSMUSG00000005417

Gene Name

myosin phosphatase Rho interacting protein

Synonyms

p116Rip, Rhoip3, RIP3, p116 Rho interacting protein

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

59661305-59780860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59696163 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 54 (P54Q)

Ref Sequence

ENSEMBL: ENSMUSP00000071081 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066330
AA Change: P54Q

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

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: P54Q

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: P54Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071914
Gene: ENSMUSG00000005417
AA Change: P54Q

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: P54Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104382
Gene: ENSMUSG00000005417
AA Change: P54Q

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: P54Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112072
Gene: ENSMUSG00000005417
AA Change: P54Q

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: ENSMUST00000138234

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	G	10: 3,125,699		noncoding transcript	Het
A830018L16Rik	T	A	1: 11,545,151		probably null	Het
Akr1c14	C	T	13: 4,079,130	R45*	probably null	Het
Ccdc62	T	A	5: 123,951,225	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,490,671	N565I	probably damaging	Het
Cerkl	G	T	2: 79,342,375	A318E	probably damaging	Het
Clec4n	A	T	6: 123,232,146	T57S	probably benign	Het
Cluh	A	G	11: 74,665,752	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,706,701	M348I	probably benign	Het
Dnajc13	G	A	9: 104,174,426	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,177,561	S597C	unknown	Het
Dync1h1	A	T	12: 110,628,734	N1360I	probably benign	Het
Eepd1	A	G	9: 25,603,412	H505R	possibly damaging	Het
Gcnt7	T	C	2: 172,454,383	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,540,547		probably benign	Het
Gpam	A	G	19: 55,071,016	S800P	probably benign	Het
Gsr	T	C	8: 33,694,996		probably benign	Het
Herc2	A	G	7: 56,155,130	K2302R	probably benign	Het
Hipk1	C	A	3: 103,777,259	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,731,434	N222S	probably damaging	Het
Marco	T	A	1: 120,494,795	M46L	probably benign	Het
Morc2b	A	T	17: 33,138,363	V145D	probably damaging	Het
Ndufv2	A	T	17: 66,083,449	C175*	probably null	Het
Olfr1181	T	C	2: 88,423,227	D266G	probably damaging	Het
Olfr272	A	G	4: 52,910,835	*320Q	probably null	Het
Orc3	A	C	4: 34,595,210	I195S	probably damaging	Het
Otos	C	A	1: 92,644,413	E64*	probably null	Het
Plxna2	T	C	1: 194,804,945	S1603P	probably damaging	Het
Rlf	A	T	4: 121,148,330	I1151N	probably benign	Het
Scaper	A	G	9: 55,874,823	V283A	probably benign	Het
Sdccag3	A	T	2: 26,387,676		probably benign	Het
Slc25a43	A	G	X: 36,775,599	T270A	probably benign	Het
Slc35a5	A	G	16: 45,143,781	V78A	probably damaging	Het
Smurf1	A	T	5: 144,881,799	D636E	probably benign	Het
Tchhl1	A	T	3: 93,470,275	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,326,492	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,450,374	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,166,818	F256S	probably damaging	Het
Vmn2r5	A	G	3: 64,491,326	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,598,422	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,848,131	I217N	probably damaging	Het
Wdr83	G	T	8: 85,080,587	A10E	probably benign	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
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
R5604:Mprip	UTSW	11	59758467	missense	probably benign
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
R7866:Mprip	UTSW	11	59752930	missense	possibly damaging	0.60
R7911:Mprip	UTSW	11	59760855	missense
R7979:Mprip	UTSW	11	59766856	missense	probably damaging	1.00
R8292:Mprip	UTSW	11	59759514	missense	probably benign	0.21
Z1176:Mprip	UTSW	11	59737404	missense	possibly damaging	0.83
Z1176:Mprip	UTSW	11	59759484	missense	probably benign	0.05
Z1177:Mprip	UTSW	11	59757637	missense	probably damaging	1.00

Posted On

2016-08-02