Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Mprip'

672365

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59661305-59780860 bp(+) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to C at 59697025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071914 (fasta)

Gene Model

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 79,099,704	S1408P	probably damaging	Het
Acap3	T	C	4: 155,905,712	V783A	probably damaging	Het
Akap8	T	C	17: 32,306,530	N525S	probably damaging	Het
Aqp1	C	T	6: 55,336,621	T44M	probably damaging	Het
Arap1	T	C	7: 101,404,378	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,250,621	S743A	probably benign	Het
AW551984	G	T	9: 39,600,011	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,273,761	P802T	possibly damaging	Het
Brd8	C	A	18: 34,609,949	V288L	probably benign	Het
Carmil2	T	C	8: 105,686,315		probably null	Het
Catspere2	G	A	1: 178,077,482	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,666,741	R379Q	probably benign	Het
Cdh16	A	G	8: 104,614,504	L116P	probably damaging	Het
Cenpj	A	T	14: 56,558,619	H260Q	possibly damaging	Het
Cenpq	A	G	17: 40,933,136	V17A	possibly damaging	Het
Cep350	T	C	1: 155,928,116	K1074E	probably damaging	Het
Chil4	C	A	3: 106,201,805	C394F	probably damaging	Het
Chst9	T	C	18: 15,717,926	I28V	probably benign	Het
Clasp2	C	A	9: 113,899,581	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,181,310	M45K	probably benign	Het
Cmya5	T	A	13: 93,063,540	T3427S	possibly damaging	Het
Cnih4	A	G	1: 181,162,212	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,304,545	M529K	probably damaging	Het
Ctsr	T	A	13: 61,161,825	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 96,056,916	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,701,965	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,200,025	I226F	probably benign	Het
Ehd2	A	G	7: 15,957,678	V243A	probably benign	Het
Etnk2	T	A	1: 133,378,494	Y353N	probably benign	Het
Fgg	G	T	3: 83,013,015	G367V	probably damaging	Het
Gm11639	A	T	11: 104,914,895	N3076I	unknown	Het
Gm609	T	C	16: 45,443,836	T120A	probably benign	Het
Gm9772	T	C	17: 22,006,329	*61Q	probably null	Het
Grk5	T	G	19: 61,089,994	D496E	possibly damaging	Het
Hc	T	C	2: 35,019,523	N915S	probably benign	Het
Iah1	G	T	12: 21,317,387	Q31H	probably benign	Het
Insr	T	C	8: 3,169,714	D936G	probably benign	Het
Ints6	A	C	14: 62,702,453	V596G	probably benign	Het
Ispd	A	T	12: 36,390,482	N130Y	probably damaging	Het
Kcnj16	A	G	11: 111,024,851	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,399,771	I928F	probably damaging	Het
Lrrc41	C	T	4: 116,075,291		probably benign	Het
Lrrc8e	G	A	8: 4,235,070	V432I	probably benign	Het
Mamdc4	T	C	2: 25,568,489	E336G	probably benign	Het
Maml2	C	A	9: 13,621,622	Q711K		Het
Map3k14	T	C	11: 103,227,672	T563A	possibly damaging	Het
Mcu	T	A	10: 59,467,713	K101*	probably null	Het
Mettl22	T	A	16: 8,485,928	V286E	probably damaging	Het
Mon2	A	T	10: 123,009,611	N1396K	possibly damaging	Het
Mrpl51	C	T	6: 125,193,381	L117F	probably damaging	Het
Myo1d	C	A	11: 80,674,932	V356F	probably damaging	Het
Myo1d	T	A	11: 80,676,932	I241F	probably benign	Het
Naalad2	A	T	9: 18,385,934		probably benign	Het
Nacad	T	C	11: 6,602,853	T113A	probably benign	Het
Nrap	T	A	19: 56,364,411		probably benign	Het
Olfr1134	T	C	2: 87,656,247	I225V	possibly damaging	Het
Olfr1336	T	C	7: 6,460,764	L85P	probably damaging	Het
Olfr1358	G	A	10: 78,520,450	V281M	possibly damaging	Het
Olfr290	T	A	7: 84,916,418	I213N	possibly damaging	Het
Olfr30	T	C	11: 58,455,110	T280A	possibly damaging	Het
Olfr661	T	A	7: 104,688,180	I55N	probably damaging	Het
Osbpl3	T	C	6: 50,351,872	D117G	probably damaging	Het
Parp9	C	T	16: 35,953,611	R318*	probably null	Het
Pcdhb18	A	G	18: 37,490,321	I235V	probably benign	Het
Pex16	T	G	2: 92,379,021		probably benign	Het
Piezo2	T	A	18: 63,114,963	M489L	probably benign	Het
Pmepa1	C	A	2: 173,227,835	G271V	probably damaging	Het
Safb	A	G	17: 56,603,579	E659G	unknown	Het
Scn9a	T	C	2: 66,501,666	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,775,676	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,693,981	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,029,469	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,229,200	M315I	probably benign	Het
Slc9b2	A	G	3: 135,329,769	D333G	probably benign	Het
Sostdc1	A	G	12: 36,317,230	N135S	possibly damaging	Het
Spg11	T	G	2: 122,070,944	D1505A	probably damaging	Het
Taar7a	T	C	10: 23,993,381	N34S	probably benign	Het
Tcerg1l	C	A	7: 138,209,797	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,688,418	K311R	probably benign	Het
Tepp	A	T	8: 95,321,255		probably benign	Het
Trbv16	T	G	6: 41,152,038	F52C	probably damaging	Het
Ttn	T	A	2: 76,895,672	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,034,912	I192T	probably benign	Het
Vmn2r67	C	T	7: 85,137,138	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,948,260	H452N	possibly 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
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
R8481:Mprip	UTSW	11	59758156	nonsense	probably null
R8717:Mprip	UTSW	11	59759700	missense	probably benign
R8981:Mprip	UTSW	11	59731557	missense	probably damaging	1.00
R9214:Mprip	UTSW	11	59760075	missense	possibly damaging	0.69
R9245:Mprip	UTSW	11	59737577	missense	possibly damaging	0.68
R9748:Mprip	UTSW	11	59765522	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCTGCCCCAGAAGTTGAAGC -3'
(R):5'- GGACTTTCTACCTAGTACTACAAGTCC -3'

Sequencing Primer
(F):5'- GTTGAAGCCTTAGAGCCAGCATTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2021-04-30