Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Rimbp2'

23214

Institutional Source

Beutler Lab

Gene Symbol

Rimbp2

Ensembl Gene

ENSMUSG00000029420

Gene Name

RIMS binding protein 2

Synonyms

A930033C01Rik

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0193 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128834855-129030550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128865420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 643 (S643T)

Ref Sequence

ENSEMBL: ENSMUSP00000142455 (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: S643T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: S643T

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
AA Change: S643T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: S643T

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: S643T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: S643T

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: S636T

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: S636T

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: S636T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: S636T

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,444,005 (GRCm39)	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,561,292 (GRCm39)		probably benign	Het
Atp2a3	G	T	11: 72,863,046 (GRCm39)	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 100,939,308 (GRCm39)	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,694,707 (GRCm39)	R525Q	probably benign	Het
Aurkb	A	G	11: 68,939,370 (GRCm39)	D151G	probably damaging	Het
Bank1	A	T	3: 135,772,279 (GRCm39)		probably benign	Het
Bcl9l	T	C	9: 44,418,703 (GRCm39)	L847P	probably damaging	Het
Bscl2	T	A	19: 8,824,793 (GRCm39)	M292K	probably benign	Het
Cacna1c	C	T	6: 118,579,363 (GRCm39)		probably benign	Het
Cadps2	T	C	6: 23,599,439 (GRCm39)	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,893,460 (GRCm39)	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803 (GRCm39)	E145K	probably benign	Het
Ccno	C	T	13: 113,125,418 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,784,202 (GRCm39)	D70G	probably benign	Het
Cenpc1	T	C	5: 86,180,262 (GRCm39)	D670G	probably benign	Het
Cenpl	A	G	1: 160,913,558 (GRCm39)	I323V	probably damaging	Het
Cfap44	A	G	16: 44,269,573 (GRCm39)		probably null	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,139,627 (GRCm39)	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Coro7	G	A	16: 4,445,368 (GRCm39)		probably benign	Het
Dchs1	C	T	7: 105,414,190 (GRCm39)	R875H	probably benign	Het
Eif3j1	A	C	2: 121,882,508 (GRCm39)	M239L	probably benign	Het
Eif4g3	G	T	4: 137,873,687 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Erbb4	T	C	1: 68,083,119 (GRCm39)		probably benign	Het
Erlin2	T	G	8: 27,521,792 (GRCm39)	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,162,029 (GRCm39)	Q393K	probably benign	Het
Fcgr4	A	T	1: 170,853,329 (GRCm39)	N178I	possibly damaging	Het
Grid2	A	G	6: 64,040,937 (GRCm39)	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,982,224 (GRCm39)	V126I	probably benign	Het
Htr1f	T	A	16: 64,747,112 (GRCm39)	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,388,646 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,085,412 (GRCm39)	K931*	probably null	Het
Ints1	T	C	5: 139,737,485 (GRCm39)	E2176G	probably damaging	Het
Iqsec2	T	C	X: 151,006,399 (GRCm39)	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,387,683 (GRCm39)	D685E	probably damaging	Het
Itgbl1	G	A	14: 124,083,958 (GRCm39)	V279I	probably benign	Het
Kdm4b	C	T	17: 56,700,952 (GRCm39)	A541V	probably benign	Het
Kif14	A	T	1: 136,396,176 (GRCm39)	T161S	probably benign	Het
Krt86	T	C	15: 101,377,244 (GRCm39)		probably benign	Het
Kyat1	C	T	2: 30,077,198 (GRCm39)		probably null	Het
Limch1	T	C	5: 67,184,882 (GRCm39)	W791R	probably damaging	Het
Map3k11	T	A	19: 5,745,874 (GRCm39)	M396K	probably damaging	Het
Mat2a	A	G	6: 72,413,178 (GRCm39)		probably null	Het
Mbnl2	A	G	14: 120,616,649 (GRCm39)	I88V	possibly damaging	Het
Mib2	T	C	4: 155,740,130 (GRCm39)	T708A	probably benign	Het
Mix23	T	C	16: 35,903,184 (GRCm39)	S59P	probably damaging	Het
Mkks	T	C	2: 136,719,526 (GRCm39)		probably null	Het
Mtss1	T	C	15: 58,815,866 (GRCm39)	M565V	probably damaging	Het
Myoc	A	G	1: 162,476,604 (GRCm39)	N436S	probably damaging	Het
Myod1	T	A	7: 46,026,536 (GRCm39)	V147E	probably damaging	Het
Ngef	A	G	1: 87,437,056 (GRCm39)	L144P	probably benign	Het
Ngrn	C	T	7: 79,911,678 (GRCm39)	R92W	probably damaging	Het
Nup153	G	A	13: 46,863,130 (GRCm39)	T349I	probably benign	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or52ad1	G	T	7: 102,995,411 (GRCm39)	S241R	possibly damaging	Het
Pigl	A	G	11: 62,394,574 (GRCm39)	I135M	probably damaging	Het
Pitpnm3	A	G	11: 71,961,318 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,429,141 (GRCm39)	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,467,923 (GRCm39)	T119M	probably damaging	Het
Prr29	A	G	11: 106,267,722 (GRCm39)	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 26,209,973 (GRCm39)	I1048V	probably damaging	Het
Rab12	G	A	17: 66,807,357 (GRCm39)	T124I	probably damaging	Het
Rab44	A	G	17: 29,359,281 (GRCm39)	S490G	probably benign	Het
Rasa3	A	G	8: 13,620,233 (GRCm39)		probably null	Het
Rhbdl3	C	T	11: 80,244,400 (GRCm39)	S369L	possibly damaging	Het
Rin1	T	G	19: 5,102,680 (GRCm39)	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,396,198 (GRCm39)	G28S	probably damaging	Het
Rtl9	T	A	X: 141,883,274 (GRCm39)	S229T	probably damaging	Het
Rufy1	G	T	11: 50,280,679 (GRCm39)	T701N	probably benign	Het
Scn4a	A	T	11: 106,211,364 (GRCm39)	L1551*	probably null	Het
Sec24b	T	C	3: 129,782,633 (GRCm39)	N1119S	probably null	Het
Serbp1	T	A	6: 67,249,868 (GRCm39)	*75R	probably null	Het
Setx	C	T	2: 29,069,685 (GRCm39)	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,250,140 (GRCm39)	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,243,510 (GRCm39)	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,012,669 (GRCm39)	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,312 (GRCm39)	D523V	possibly damaging	Het
Traf7	G	T	17: 24,729,525 (GRCm39)	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,549,428 (GRCm39)	V6F	probably damaging	Het
Tsacc	A	T	3: 88,194,395 (GRCm39)		probably benign	Het
Vmn2r5	A	G	3: 64,398,951 (GRCm39)	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,460 (GRCm39)	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,217,129 (GRCm39)	V487A	probably damaging	Het
Zbtb47	T	C	9: 121,596,732 (GRCm39)	V696A	probably damaging	Het
Zfp287	A	T	11: 62,605,855 (GRCm39)	S351T	probably benign	Het
Zfp654	T	C	16: 64,606,051 (GRCm39)	H176R	possibly damaging	Het

Other mutations in Rimbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Rimbp2	APN	5	128,883,505 (GRCm39)	missense	probably benign	0.00
IGL01321:Rimbp2	APN	5	128,863,816 (GRCm39)	missense	probably benign	0.10
IGL01459:Rimbp2	APN	5	128,865,275 (GRCm39)	critical splice donor site	probably null
IGL01743:Rimbp2	APN	5	128,874,912 (GRCm39)	splice site	probably benign
IGL01975:Rimbp2	APN	5	128,874,712 (GRCm39)	missense	probably benign	0.30
IGL02269:Rimbp2	APN	5	128,851,359 (GRCm39)	missense	probably damaging	1.00
IGL02341:Rimbp2	APN	5	128,878,025 (GRCm39)	nonsense	probably null
IGL02368:Rimbp2	APN	5	128,865,218 (GRCm39)	splice site	probably null
IGL02392:Rimbp2	APN	5	128,848,861 (GRCm39)	missense	probably benign	0.01
IGL03156:Rimbp2	APN	5	128,848,821 (GRCm39)	missense	probably damaging	1.00
IGL02837:Rimbp2	UTSW	5	128,874,809 (GRCm39)	missense	probably damaging	0.98
PIT4418001:Rimbp2	UTSW	5	128,857,425 (GRCm39)	missense	probably benign	0.00
R0376:Rimbp2	UTSW	5	128,880,925 (GRCm39)	missense	probably damaging	0.98
R0377:Rimbp2	UTSW	5	128,880,925 (GRCm39)	missense	probably damaging	0.98
R0661:Rimbp2	UTSW	5	128,863,774 (GRCm39)	missense	probably benign	0.20
R1217:Rimbp2	UTSW	5	128,865,351 (GRCm39)	missense	probably benign	0.04
R1376:Rimbp2	UTSW	5	128,847,355 (GRCm39)	missense	possibly damaging	0.75
R1376:Rimbp2	UTSW	5	128,847,355 (GRCm39)	missense	possibly damaging	0.75
R1551:Rimbp2	UTSW	5	128,883,423 (GRCm39)	missense	probably damaging	0.97
R1883:Rimbp2	UTSW	5	128,880,998 (GRCm39)	missense	possibly damaging	0.93
R1970:Rimbp2	UTSW	5	128,874,305 (GRCm39)	missense	probably damaging	1.00
R2111:Rimbp2	UTSW	5	128,850,565 (GRCm39)	missense	probably damaging	1.00
R2120:Rimbp2	UTSW	5	128,865,582 (GRCm39)	missense	probably damaging	1.00
R2155:Rimbp2	UTSW	5	128,865,229 (GRCm39)	missense	probably damaging	0.99
R2332:Rimbp2	UTSW	5	128,866,705 (GRCm39)	missense	probably benign	0.42
R2370:Rimbp2	UTSW	5	128,880,908 (GRCm39)	missense	probably damaging	0.99
R2402:Rimbp2	UTSW	5	128,861,952 (GRCm39)	missense	probably damaging	1.00
R3710:Rimbp2	UTSW	5	128,866,795 (GRCm39)	missense	probably benign	0.16
R3877:Rimbp2	UTSW	5	128,850,529 (GRCm39)	missense	probably damaging	1.00
R3974:Rimbp2	UTSW	5	128,874,862 (GRCm39)	missense	probably damaging	1.00
R4257:Rimbp2	UTSW	5	128,851,324 (GRCm39)	missense	probably damaging	1.00
R4270:Rimbp2	UTSW	5	128,896,841 (GRCm39)	missense	probably benign
R4271:Rimbp2	UTSW	5	128,896,841 (GRCm39)	missense	probably benign
R4281:Rimbp2	UTSW	5	128,865,404 (GRCm39)	missense	possibly damaging	0.82
R4934:Rimbp2	UTSW	5	128,865,579 (GRCm39)	missense	probably benign	0.12
R5011:Rimbp2	UTSW	5	128,880,985 (GRCm39)	missense	probably damaging	0.98
R5173:Rimbp2	UTSW	5	128,874,712 (GRCm39)	missense	probably benign	0.30
R5288:Rimbp2	UTSW	5	128,865,656 (GRCm39)	missense	probably benign	0.00
R5305:Rimbp2	UTSW	5	128,874,445 (GRCm39)	missense	possibly damaging	0.69
R5554:Rimbp2	UTSW	5	128,857,406 (GRCm39)	missense	probably damaging	0.98
R6189:Rimbp2	UTSW	5	128,880,961 (GRCm39)	missense	probably benign
R7023:Rimbp2	UTSW	5	128,879,847 (GRCm39)	critical splice donor site	probably null
R7096:Rimbp2	UTSW	5	128,851,333 (GRCm39)	missense	probably damaging	0.99
R7451:Rimbp2	UTSW	5	128,865,435 (GRCm39)	missense	probably benign	0.00
R7789:Rimbp2	UTSW	5	128,851,399 (GRCm39)	missense	probably damaging	0.99
R7793:Rimbp2	UTSW	5	128,866,759 (GRCm39)	missense	possibly damaging	0.92
R7894:Rimbp2	UTSW	5	128,838,528 (GRCm39)	missense	probably damaging	1.00
R8300:Rimbp2	UTSW	5	128,874,835 (GRCm39)	missense	probably damaging	1.00
R8377:Rimbp2	UTSW	5	128,857,395 (GRCm39)	missense	probably damaging	1.00
R8894:Rimbp2	UTSW	5	128,850,454 (GRCm39)	missense	possibly damaging	0.78
R9002:Rimbp2	UTSW	5	128,865,356 (GRCm39)	missense	probably benign	0.11
R9075:Rimbp2	UTSW	5	128,851,312 (GRCm39)	missense	probably damaging	1.00
R9198:Rimbp2	UTSW	5	128,883,552 (GRCm39)	missense	probably damaging	0.99
R9709:Rimbp2	UTSW	5	128,874,875 (GRCm39)	missense	probably damaging	1.00
Z1177:Rimbp2	UTSW	5	128,865,244 (GRCm39)	missense	probably damaging	1.00
Z1177:Rimbp2	UTSW	5	128,850,515 (GRCm39)	missense	probably benign	0.01
Z1177:Rimbp2	UTSW	5	128,838,403 (GRCm39)	missense	probably benign	0.07
Z1177:Rimbp2	UTSW	5	128,874,695 (GRCm39)	missense	possibly damaging	0.89
Z1177:Rimbp2	UTSW	5	128,874,671 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACGATGGGAATATGCCCAAATC -3'
(R):5'- TATGACATGCCGACAGCCTGTGAC -3'

Sequencing Primer
(F):5'- GGAGTATACAACTTACCCTGTTGC -3'
(R):5'- AGCCTGTGACATGGCTTTC -3'

Posted On

2013-04-16