Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01321:Rimbp2'

74061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rimbp2

Ensembl Gene

ENSMUSG00000029420

Gene Name

RIMS binding protein 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

128757791-128953486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128786752 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 724 (Y724C)

Ref Sequence

ENSEMBL: ENSMUSP00000142455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111346] [ENSMUST00000196085] [ENSMUST00000198941] [ENSMUST00000199537] [ENSMUST00000200470]

Predicted Effect

probably benign
Transcript: ENSMUST00000111346
AA Change: Y724C

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: Y724C

Domain	Start	End	E-Value	Type
coiled coil region	1	84	N/A	INTRINSIC
low complexity region	178	187	N/A	INTRINSIC
SH3	191	254	1.61e-11	SMART
FN3	318	398	1.52e-1	SMART
FN3	412	484	3.59e-3	SMART
FN3	508	594	3.08e-2	SMART
low complexity region	598	624	N/A	INTRINSIC
low complexity region	667	677	N/A	INTRINSIC
low complexity region	774	795	N/A	INTRINSIC
low complexity region	826	842	N/A	INTRINSIC
SH3	878	942	5.24e-11	SMART
SH3	982	1045	7.17e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196085

SMART Domains

Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420

Domain	Start	End	E-Value	Type
coiled coil region	1	84	N/A	INTRINSIC
low complexity region	178	187	N/A	INTRINSIC
SH3	191	254	1e-13	SMART
FN3	318	398	7.7e-4	SMART
FN3	412	484	1.7e-5	SMART
FN3	508	594	1.6e-4	SMART
low complexity region	598	624	N/A	INTRINSIC
low complexity region	667	677	N/A	INTRINSIC
low complexity region	699	720	N/A	INTRINSIC
low complexity region	751	767	N/A	INTRINSIC
SH3	803	867	3.2e-13	SMART
SH3	907	970	4.5e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198941
AA Change: Y724C

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: Y724C

Domain	Start	End	E-Value	Type
coiled coil region	1	84	N/A	INTRINSIC
low complexity region	178	187	N/A	INTRINSIC
SH3	191	254	1.61e-11	SMART
FN3	318	398	1.52e-1	SMART
FN3	412	484	3.59e-3	SMART
FN3	508	594	3.08e-2	SMART
low complexity region	598	624	N/A	INTRINSIC
low complexity region	667	677	N/A	INTRINSIC
low complexity region	774	795	N/A	INTRINSIC
low complexity region	826	842	N/A	INTRINSIC
SH3	878	942	5.24e-11	SMART
SH3	982	1045	7.17e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199537
AA Change: Y717C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: Y717C

Domain	Start	End	E-Value	Type
coiled coil region	1	77	N/A	INTRINSIC
low complexity region	171	180	N/A	INTRINSIC
SH3	184	247	1.61e-11	SMART
FN3	311	391	1.52e-1	SMART
FN3	405	477	3.59e-3	SMART
FN3	501	587	3.08e-2	SMART
low complexity region	591	617	N/A	INTRINSIC
low complexity region	660	670	N/A	INTRINSIC
low complexity region	767	788	N/A	INTRINSIC
low complexity region	819	835	N/A	INTRINSIC
SH3	871	935	5.24e-11	SMART
SH3	975	1038	7.17e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200470
AA Change: Y717C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: Y717C

Domain	Start	End	E-Value	Type
coiled coil region	1	77	N/A	INTRINSIC
low complexity region	171	180	N/A	INTRINSIC
SH3	184	247	9.8e-14	SMART
FN3	311	391	7.5e-4	SMART
FN3	405	477	1.7e-5	SMART
FN3	501	587	1.5e-4	SMART
low complexity region	591	617	N/A	INTRINSIC
low complexity region	660	670	N/A	INTRINSIC
low complexity region	767	788	N/A	INTRINSIC
low complexity region	819	835	N/A	INTRINSIC
SH3	871	935	3.2e-13	SMART
SH3	975	1038	4.4e-20	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout results in a mild neurological phenotype with changes in the synaptic transmission and plasticity of hippocampal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,843	V76D	probably damaging	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Adamts5	T	C	16: 85,899,475	R265G	probably benign	Het
Cd2ap	T	C	17: 42,845,389	S86G	possibly damaging	Het
Cers3	A	C	7: 66,786,003		probably benign	Het
Dnaaf2	G	T	12: 69,196,602	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,102	V520G	probably benign	Het
Dpcr1	A	T	17: 35,636,866	N490K	probably damaging	Het
Dync1h1	A	G	12: 110,625,607		probably benign	Het
Extl3	T	C	14: 65,066,762	N733D	probably benign	Het
Gm5499	T	A	17: 87,078,500		noncoding transcript	Het
Gstm6	T	C	3: 107,941,063	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,423,802	R460W	probably damaging	Het
Ift81	T	C	5: 122,610,968	D40G	probably damaging	Het
Igsf3	T	A	3: 101,427,022		probably benign	Het
Kcnb2	A	G	1: 15,312,923	T158A	probably benign	Het
Lrrc59	C	T	11: 94,638,600	R167*	probably null	Het
Macf1	A	G	4: 123,440,774	C4397R	probably damaging	Het
Morc1	T	C	16: 48,582,462	S583P	probably benign	Het
Nipsnap2	T	A	5: 129,757,141	*282R	probably null	Het
Olfr1160	A	T	2: 88,006,245	C178S	probably damaging	Het
Olfr703	T	C	7: 106,844,749	L46P	probably damaging	Het
Parp14	T	A	16: 35,856,559	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,301,529	S480A	probably benign	Het
Piezo1	A	T	8: 122,487,600	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,350,627		probably null	Het
Plpp2	A	T	10: 79,527,493	V106D	probably damaging	Het
Rpgrip1l	A	T	8: 91,260,873	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259	D334V	probably benign	Het
Sipa1l2	G	A	8: 125,491,518	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,343,300	D5V	probably damaging	Het
Spata31	T	C	13: 64,921,754	I572T	probably benign	Het
Tma16	G	A	8: 66,476,860	L161F	probably benign	Het
Trim69	A	T	2: 122,173,284	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,242,328	T205A	probably benign	Het

Other mutations in Rimbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Rimbp2	APN	5	128806441	missense	probably benign	0.00
IGL01459:Rimbp2	APN	5	128788211	critical splice donor site	probably null
IGL01743:Rimbp2	APN	5	128797848	splice site	probably benign
IGL01975:Rimbp2	APN	5	128797648	missense	probably benign	0.30
IGL02269:Rimbp2	APN	5	128774295	missense	probably damaging	1.00
IGL02341:Rimbp2	APN	5	128800961	nonsense	probably null
IGL02368:Rimbp2	APN	5	128788154	splice site	probably null
IGL02392:Rimbp2	APN	5	128771797	missense	probably benign	0.01
IGL03156:Rimbp2	APN	5	128771757	missense	probably damaging	1.00
IGL02837:Rimbp2	UTSW	5	128797745	missense	probably damaging	0.98
PIT4418001:Rimbp2	UTSW	5	128780361	missense	probably benign	0.00
R0193:Rimbp2	UTSW	5	128788356	missense	probably benign	0.12
R0376:Rimbp2	UTSW	5	128803861	missense	probably damaging	0.98
R0377:Rimbp2	UTSW	5	128803861	missense	probably damaging	0.98
R0661:Rimbp2	UTSW	5	128786710	missense	probably benign	0.20
R1217:Rimbp2	UTSW	5	128788287	missense	probably benign	0.04
R1376:Rimbp2	UTSW	5	128770291	missense	possibly damaging	0.75
R1376:Rimbp2	UTSW	5	128770291	missense	possibly damaging	0.75
R1551:Rimbp2	UTSW	5	128806359	missense	probably damaging	0.97
R1883:Rimbp2	UTSW	5	128803934	missense	possibly damaging	0.93
R1970:Rimbp2	UTSW	5	128797241	missense	probably damaging	1.00
R2111:Rimbp2	UTSW	5	128773501	missense	probably damaging	1.00
R2120:Rimbp2	UTSW	5	128788518	missense	probably damaging	1.00
R2155:Rimbp2	UTSW	5	128788165	missense	probably damaging	0.99
R2332:Rimbp2	UTSW	5	128789641	missense	probably benign	0.42
R2370:Rimbp2	UTSW	5	128803844	missense	probably damaging	0.99
R2402:Rimbp2	UTSW	5	128784888	missense	probably damaging	1.00
R3710:Rimbp2	UTSW	5	128789731	missense	probably benign	0.16
R3877:Rimbp2	UTSW	5	128773465	missense	probably damaging	1.00
R3974:Rimbp2	UTSW	5	128797798	missense	probably damaging	1.00
R4257:Rimbp2	UTSW	5	128774260	missense	probably damaging	1.00
R4270:Rimbp2	UTSW	5	128819777	missense	probably benign
R4271:Rimbp2	UTSW	5	128819777	missense	probably benign
R4281:Rimbp2	UTSW	5	128788340	missense	possibly damaging	0.82
R4934:Rimbp2	UTSW	5	128788515	missense	probably benign	0.12
R5011:Rimbp2	UTSW	5	128803921	missense	probably damaging	0.98
R5173:Rimbp2	UTSW	5	128797648	missense	probably benign	0.30
R5288:Rimbp2	UTSW	5	128788592	missense	probably benign	0.00
R5305:Rimbp2	UTSW	5	128797381	missense	possibly damaging	0.69
R5554:Rimbp2	UTSW	5	128780342	missense	probably damaging	0.98
R6189:Rimbp2	UTSW	5	128803897	missense	probably benign
R7023:Rimbp2	UTSW	5	128802783	critical splice donor site	probably null
R7096:Rimbp2	UTSW	5	128774269	missense	probably damaging	0.99
R7451:Rimbp2	UTSW	5	128788371	missense	probably benign	0.00
R7789:Rimbp2	UTSW	5	128774335	missense	probably damaging	0.99
R7793:Rimbp2	UTSW	5	128789695	missense	possibly damaging	0.92
R7894:Rimbp2	UTSW	5	128761464	missense	probably damaging	1.00
R8300:Rimbp2	UTSW	5	128797771	missense	probably damaging	1.00
R8377:Rimbp2	UTSW	5	128780331	missense	probably damaging	1.00
Z1177:Rimbp2	UTSW	5	128761339	missense	probably benign	0.07
Z1177:Rimbp2	UTSW	5	128773451	missense	probably benign	0.01
Z1177:Rimbp2	UTSW	5	128788180	missense	probably damaging	1.00
Z1177:Rimbp2	UTSW	5	128797607	missense	probably damaging	1.00
Z1177:Rimbp2	UTSW	5	128797631	missense	possibly damaging	0.89

Posted On

2013-10-07