Mutagenetix > Incidental Mutations

Incidental Mutation 'R2332:Rimbp2'

246467

Institutional Source

Beutler Lab

Gene Symbol

Rimbp2

Ensembl Gene

ENSMUSG00000029420

Gene Name

RIMS binding protein 2

Synonyms

MMRRC Submission

040322-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128757791-128953486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128789641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 538 (V538A)

Ref Sequence

ENSEMBL: ENSMUSP00000143276 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000111346
AA Change: V545A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: V545A

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

unknown
Transcript: ENSMUST00000196085
AA Change: V545A

SMART Domains

Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: V545A

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: V545A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: V545A

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: V538A

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: V538A

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: V538A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: V538A

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

Meta Mutation Damage Score

0.6308

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (47/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	T	C	18: 34,317,059	I2302T	possibly damaging	Het
Apoa4	G	A	9: 46,242,355	V85I	probably benign	Het
Banf1	C	T	19: 5,365,030	W84*	probably null	Het
Cdk13	A	G	13: 17,718,695	L627P	probably damaging	Het
Cep250	A	G	2: 155,990,607	E1483G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ddx60	A	G	8: 62,037,091	E1698G	probably benign	Het
Depdc1a	C	A	3: 159,523,866	Q612K	probably damaging	Het
Dnaja2	G	A	8: 85,540,136	R321C	probably damaging	Het
Fam186b	T	A	15: 99,280,428	E339V	probably benign	Het
Fga	T	C	3: 83,031,397	F360L	probably damaging	Het
Fut9	C	T	4: 25,619,823	W330*	probably null	Het
Ghr	T	C	15: 3,320,409	N429S	probably benign	Het
Gm5444	A	T	13: 4,833,625		noncoding transcript	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hoxa5	T	C	6: 52,202,679	I239V	probably damaging	Het
Hps6	T	C	19: 46,004,491	V289A	possibly damaging	Het
Iqcb1	A	G	16: 36,843,439	N190D	possibly damaging	Het
Map3k13	G	A	16: 21,898,677		probably null	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Olfr607	A	G	7: 103,461,086	Y41H	probably damaging	Het
Pacsin1	A	G	17: 27,704,911	E93G	possibly damaging	Het
Pds5a	A	G	5: 65,627,079		probably null	Het
Ppp1r9b	A	T	11: 94,996,609	E482D	probably damaging	Het
Rhobtb3	A	G	13: 75,910,852	S276P	probably benign	Het
Rmdn3	A	T	2: 119,153,527		probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Sh3rf1	C	T	8: 61,226,287	P121L	probably benign	Het
Slc4a11	A	T	2: 130,684,459	V855D	probably benign	Het
Speer4f1	C	A	5: 17,479,524	N183K	probably damaging	Het
Sstr4	A	T	2: 148,396,410	N314Y	probably damaging	Het
Synj2	A	G	17: 6,023,794	K288E	probably damaging	Het
Trhde	T	A	10: 114,592,165	N409Y	probably damaging	Het
Ttn	A	T	2: 76,781,139	W15604R	probably damaging	Het
Ugdh	C	T	5: 65,427,484	V32I	possibly damaging	Het
Uhrf1	C	A	17: 56,310,671		probably null	Het
Vps13d	G	T	4: 145,148,686	D1750E	probably benign	Het
Wdfy3	A	G	5: 101,888,323		probably benign	Het
Wnt4	C	A	4: 137,296,520	T266K	probably benign	Het
Wtap	C	T	17: 12,967,538	R374Q	possibly damaging	Het
Zfp322a	A	T	13: 23,357,324	C83S	probably damaging	Het

Other mutations in Rimbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Rimbp2	APN	5	128806441	missense	probably benign	0.00
IGL01321:Rimbp2	APN	5	128786752	missense	probably benign	0.10
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
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
R8894:Rimbp2	UTSW	5	128773390	missense	possibly damaging	0.78
R9002:Rimbp2	UTSW	5	128788292	missense	probably benign	0.11
R9075:Rimbp2	UTSW	5	128774248	missense	probably damaging	1.00
R9198:Rimbp2	UTSW	5	128806488	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- ATGATGGGACCTCCTCACTC -3'
(R):5'- TCCAAGTTTGACAGACCAAGTG -3'

Sequencing Primer
(F):5'- ACCTGTGGCAGAGGACAGTC -3'
(R):5'- TTTGACAGACCAAGTGAAGAAAGGC -3'

Posted On

2014-10-30