Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Rusc2'

162994

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R1381 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43416137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 481 (V481E)

Ref Sequence

ENSEMBL: ENSMUSP00000133715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000125399] [ENSMUST00000131668] [ENSMUST00000135216] [ENSMUST00000136360] [ENSMUST00000139198] [ENSMUST00000144911] [ENSMUST00000173682] [ENSMUST00000149221] [ENSMUST00000152322]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035645
AA Change: V481E

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: V481E

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC
SH3	1457	1512	7.4e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098106
AA Change: V481E

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: V481E

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC
SH3	1457	1512	7.4e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125393

Predicted Effect

probably benign
Transcript: ENSMUST00000125399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131037

Predicted Effect

probably damaging
Transcript: ENSMUST00000131668
AA Change: V481E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: V481E

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135216

Predicted Effect

probably benign
Transcript: ENSMUST00000136360

SMART Domains

Protein: ENSMUSP00000123431
Gene: ENSMUSG00000035969

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139198

SMART Domains

Protein: ENSMUSP00000121528
Gene: ENSMUSG00000035969

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144911

Predicted Effect

probably damaging
Transcript: ENSMUST00000173682
AA Change: V481E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: V481E

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	685	703	N/A	INTRINSIC
low complexity region	733	740	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

probably benign
Transcript: ENSMUST00000149221

Predicted Effect

probably benign
Transcript: ENSMUST00000152322

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,731,086	F252L	probably benign	Het
Aadac	A	T	3: 60,039,930	M350L	probably damaging	Het
Agtrap	G	A	4: 148,083,965	T19I	probably damaging	Het
Apba3	C	T	10: 81,271,756	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,419,675	K133I	probably damaging	Het
Cep295	A	C	9: 15,322,565	C2312G	probably benign	Het
Ces1a	A	G	8: 93,034,031	V231A	probably damaging	Het
Chdh	C	A	14: 30,036,834	L579I	probably damaging	Het
Cyb5r4	T	A	9: 87,022,233	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,372,508	R355L	probably benign	Het
Dach2	T	C	X: 113,298,775	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,774,532	R93K	probably benign	Het
Dph2	G	T	4: 117,889,668	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,835,117	D634G	probably benign	Het
Fam217b	G	A	2: 178,420,425	V61I	probably benign	Het
Fbln7	A	C	2: 128,877,379	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,588,741	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,090,471	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,766	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420	G152D	probably damaging	Het
Galntl6	G	T	8: 58,472,955	P92Q	probably damaging	Het
Gm5592	A	T	7: 41,286,172	T33S	probably benign	Het
Grid2ip	A	T	5: 143,362,651	T166S	probably benign	Het
Grsf1	G	A	5: 88,665,864	S225L	probably benign	Het
Hadha	G	T	5: 30,128,836	T395K	probably benign	Het
Hars2	C	T	18: 36,789,217	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,638,169	S577T	probably benign	Het
Ice2	A	G	9: 69,400,527	Y31C	probably damaging	Het
Ift80	A	T	3: 68,914,783	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,476,640	D222E	probably benign	Het
Ilvbl	C	A	10: 78,576,596	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942	S858*	probably null	Het
Ipo13	T	G	4: 117,904,395	T508P	probably damaging	Het
Itgb4	T	C	11: 115,994,337	I1015T	probably benign	Het
Kank4	A	T	4: 98,779,938	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,720,904	A906T	probably benign	Het
Klk4	G	A	7: 43,885,282	V222M	probably damaging	Het
Lipo4	T	A	19: 33,499,341	M336L	probably benign	Het
Lrig1	T	C	6: 94,606,130	N1002D	probably benign	Het
Lzts3	A	G	2: 130,635,299	S524P	probably damaging	Het
Maz	A	T	7: 127,023,152	C409*	probably null	Het
Mmp24	A	T	2: 155,814,127	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 47,235,302	V206I	possibly damaging	Het
Myof	A	G	19: 37,995,485	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,314,105	V1030D	probably damaging	Het
Neb	T	A	2: 52,260,532	I2495F	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,267,826	T166M	probably damaging	Het
Nup153	T	C	13: 46,689,181	D837G	probably damaging	Het
Nup210	C	A	6: 91,075,960	G331V	probably damaging	Het
Olfr1143	T	C	2: 87,803,136	L245P	probably damaging	Het
Olfr1447	T	C	19: 12,900,956	T275A	probably benign	Het
Olfr5	A	G	7: 6,481,009		probably null	Het
Olfr923	T	A	9: 38,828,338	S210T	probably benign	Het
Pabpc4	T	A	4: 123,289,059	L163H	probably damaging	Het
Papd5	T	A	8: 88,243,309	M203K	possibly damaging	Het
Pcdh7	T	A	5: 57,721,540	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,439	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,150,463	I649M	probably benign	Het
Plcl2	G	A	17: 50,607,729	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674	T325N	possibly damaging	Het
Pqlc1	T	G	18: 80,283,314	S126A	probably benign	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,929,849		probably benign	Het
Ptcd2	A	G	13: 99,344,597	S25P	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Sephs2	G	T	7: 127,272,967	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,003,154	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,956,870		probably null	Het
Smarca2	T	C	19: 26,630,828	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,036,554	I637L	probably benign	Het
Ston2	A	T	12: 91,740,492	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,826,140	T41S	probably benign	Het
Tespa1	T	C	10: 130,360,691	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,439	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,638,510		probably benign	Het
Txnl4a	T	C	18: 80,207,264	V25A	probably benign	Het
Utp4	C	A	8: 106,906,276	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,636,938	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,618,486	I643F	probably damaging	Het
Vmn2r121	C	A	X: 124,128,140	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,786,733	S190T	probably damaging	Het
Zfp507	A	G	7: 35,776,010	V926A	possibly damaging	Het

Other mutations in Rusc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Rusc2	APN	4	43426116	missense	probably damaging	0.97
IGL01474:Rusc2	APN	4	43416434	missense	probably damaging	0.98
IGL01541:Rusc2	APN	4	43415840	missense	probably benign	0.08
IGL01628:Rusc2	APN	4	43425729	missense	probably damaging	1.00
IGL01969:Rusc2	APN	4	43415738	missense	probably benign	0.02
IGL02030:Rusc2	APN	4	43416095	missense	possibly damaging	0.86
IGL02079:Rusc2	APN	4	43425668	missense	probably benign
IGL02115:Rusc2	APN	4	43426136	splice site	probably benign
IGL02122:Rusc2	APN	4	43421685	missense	possibly damaging	0.67
IGL02350:Rusc2	APN	4	43425351	missense	possibly damaging	0.86
IGL02357:Rusc2	APN	4	43425351	missense	possibly damaging	0.86
IGL02437:Rusc2	APN	4	43415545	missense	probably damaging	1.00
IGL02930:Rusc2	APN	4	43416376	missense	probably damaging	0.99
IGL03154:Rusc2	APN	4	43425806	missense	probably benign	0.00
P0026:Rusc2	UTSW	4	43415840	missense	possibly damaging	0.93
R0036:Rusc2	UTSW	4	43424009	missense	probably damaging	1.00
R0068:Rusc2	UTSW	4	43424100	splice site	probably benign
R0068:Rusc2	UTSW	4	43424100	splice site	probably benign
R0114:Rusc2	UTSW	4	43422055	missense	probably damaging	1.00
R0255:Rusc2	UTSW	4	43423954	missense	probably damaging	1.00
R0471:Rusc2	UTSW	4	43425486	missense	probably damaging	0.99
R1413:Rusc2	UTSW	4	43416568	missense	probably benign	0.00
R1416:Rusc2	UTSW	4	43421617	missense	possibly damaging	0.86
R1731:Rusc2	UTSW	4	43426046	missense	probably benign
R1864:Rusc2	UTSW	4	43421719	missense	possibly damaging	0.49
R1897:Rusc2	UTSW	4	43421749	missense	probably damaging	1.00
R2010:Rusc2	UTSW	4	43415212	missense	probably benign	0.06
R2212:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R2275:Rusc2	UTSW	4	43416260	missense	probably damaging	1.00
R2885:Rusc2	UTSW	4	43415456	missense	probably benign	0.28
R2886:Rusc2	UTSW	4	43415456	missense	probably benign	0.28
R3412:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R3413:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R3414:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R3852:Rusc2	UTSW	4	43416424	missense	probably benign	0.45
R4135:Rusc2	UTSW	4	43425563	missense	possibly damaging	0.49
R4272:Rusc2	UTSW	4	43415533	missense	probably damaging	1.00
R4574:Rusc2	UTSW	4	43416080	missense	probably damaging	0.99
R4888:Rusc2	UTSW	4	43423942	missense	probably damaging	1.00
R5010:Rusc2	UTSW	4	43415926	missense	probably damaging	1.00
R5071:Rusc2	UTSW	4	43415240	missense	probably benign	0.05
R5131:Rusc2	UTSW	4	43414948	missense	probably benign	0.03
R5177:Rusc2	UTSW	4	43421805	splice site	probably null
R5540:Rusc2	UTSW	4	43423975	missense	probably damaging	1.00
R5561:Rusc2	UTSW	4	43415932	nonsense	probably null
R5628:Rusc2	UTSW	4	43425348	missense	probably damaging	1.00
R5645:Rusc2	UTSW	4	43425758	missense	probably benign	0.06
R6129:Rusc2	UTSW	4	43424271	missense	probably damaging	1.00
R6362:Rusc2	UTSW	4	43416416	missense	probably benign	0.30
R6633:Rusc2	UTSW	4	43414852	missense	probably damaging	0.99
R6980:Rusc2	UTSW	4	43422846	missense	probably benign	0.35
R7491:Rusc2	UTSW	4	43426528	missense	probably damaging	1.00
R7641:Rusc2	UTSW	4	43425335	missense	possibly damaging	0.84
R7698:Rusc2	UTSW	4	43414900	nonsense	probably null
R7710:Rusc2	UTSW	4	43416119	missense	probably benign	0.07
R8052:Rusc2	UTSW	4	43421851	missense	probably benign
R8061:Rusc2	UTSW	4	43422492	missense	probably damaging	1.00
R8127:Rusc2	UTSW	4	43423747	missense	possibly damaging	0.54
R8319:Rusc2	UTSW	4	43425378	missense	probably damaging	1.00
R8355:Rusc2	UTSW	4	43422846	missense	probably benign	0.35
R8397:Rusc2	UTSW	4	43424206	missense	possibly damaging	0.95
R8455:Rusc2	UTSW	4	43422846	missense	probably benign	0.35
R8553:Rusc2	UTSW	4	43416508	missense	probably benign	0.05
R8725:Rusc2	UTSW	4	43401351	intron	probably benign
R8725:Rusc2	UTSW	4	43415396	missense	probably damaging	0.99
R8727:Rusc2	UTSW	4	43401351	intron	probably benign
R8834:Rusc2	UTSW	4	43416431	missense	possibly damaging	0.94
R9295:Rusc2	UTSW	4	43416382	missense	probably damaging	0.98
R9483:Rusc2	UTSW	4	43415897	missense	probably damaging	0.97
R9666:Rusc2	UTSW	4	43416262	missense	probably benign	0.21
R9705:Rusc2	UTSW	4	43424936	missense	probably benign	0.00
X0025:Rusc2	UTSW	4	43422226	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43422204	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACGAGTTGCTCTGAAGAACACACC -3'
(R):5'- TTGGGAAGAATCTCCAACGCTCGC -3'

Sequencing Primer
(F):5'- CAAGATAAGTCCTCCACCAGG -3'
(R):5'- CGAAGGAGGTAACCCTTCTG -3'

Posted On

2014-03-17