Mutagenetix > Incidental Mutations

Incidental Mutation 'R2010:Rusc2'

219443

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

040019-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R2010 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43415212 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 173 (P173S)

Ref Sequence

ENSEMBL: ENSMUSP00000095710 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035645
AA Change: P173S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: P173S

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

probably benign
Transcript: ENSMUST00000098106
AA Change: P173S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: P173S

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 benign
Transcript: ENSMUST00000131668
AA Change: P173S

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

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: P173S

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

noncoding transcript
Transcript: ENSMUST00000146710

Predicted Effect

probably benign
Transcript: ENSMUST00000149221

Predicted Effect

probably benign
Transcript: ENSMUST00000173682
AA Change: P173S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: P173S

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: ENSMUST00000149556

Predicted Effect

probably benign
Transcript: ENSMUST00000152322

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,481,806	G74S	unknown	Het
4930452B06Rik	A	T	14: 8,511,021	F464L	probably damaging	Het
4932438A13Rik	T	G	3: 36,928,551	N788K	probably benign	Het
Aimp1	A	T	3: 132,667,492	L229Q	probably benign	Het
Arhgef6	T	C	X: 57,299,505	T52A	possibly damaging	Het
Aste1	C	A	9: 105,403,502	H25Q	probably damaging	Het
Atp13a1	G	A	8: 69,791,360	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,272,778	V634A	probably damaging	Het
C1s1	A	T	6: 124,537,394	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,274,868	S612G	probably damaging	Het
Cdh23	C	A	10: 60,314,227	R2611L	probably damaging	Het
Cilp2	A	G	8: 69,881,694	Y885H	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,956	I1544M	possibly damaging	Het
Dhrs3	C	T	4: 144,927,188	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,458,358		probably null	Het
Dnah3	T	G	7: 120,095,177	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,719,283	I664T	probably benign	Het
Eif4e	C	T	3: 138,555,458	T171I	probably benign	Het
Elfn1	C	T	5: 139,973,316	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,879,372	M1K	probably null	Het
Evi5	C	A	5: 107,813,545		probably null	Het
Fancd2	A	T	6: 113,593,291	D1401V	probably damaging	Het
Fat2	G	A	11: 55,253,827	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,435,802	V55E	probably benign	Het
Fnip1	A	G	11: 54,482,503	D180G	probably damaging	Het
Galc	A	G	12: 98,254,230	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,301,729	V69M	unknown	Het
Glis2	A	G	16: 4,608,711	E22G	probably damaging	Het
Hist1h2bb	G	A	13: 23,747,128	V112M	possibly damaging	Het
Hps4	T	A	5: 112,369,476	V243E	probably damaging	Het
Ighe	T	A	12: 113,271,488	I351F	unknown	Het
Irak4	A	T	15: 94,551,806	R55S	probably damaging	Het
Itpr2	G	A	6: 146,227,524		probably null	Het
Kirrel3	T	C	9: 34,939,198	Y41H	probably damaging	Het
Krr1	A	G	10: 111,975,569	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,301,235	V250I	probably damaging	Het
Lipf	A	G	19: 33,973,546	N306D	probably benign	Het
Lman2l	C	T	1: 36,445,181	W18*	probably null	Het
Lztfl1	T	A	9: 123,702,186	N239I	possibly damaging	Het
Mief1	T	C	15: 80,247,925	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,534	S465*	probably null	Het
Muc2	A	T	7: 141,700,875	T208S	probably damaging	Het
Myh8	A	T	11: 67,297,164	K921*	probably null	Het
Myh9	T	C	15: 77,771,947	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393	S213P	probably damaging	Het
Nol10	A	G	12: 17,416,101	E499G	probably benign	Het
Nxn	T	C	11: 76,398,801	E87G	probably damaging	Het
Olfr293	A	G	7: 86,664,603	T314A	probably benign	Het
Olfr568	T	A	7: 102,877,685	C188*	probably null	Het
Olfr937	T	C	9: 39,060,099	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,775,354		probably benign	Het
Pigk	A	G	3: 152,766,514	I354M	probably damaging	Het
Pigl	T	A	11: 62,458,682	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,812,114	I400N	probably benign	Het
Prkg2	T	A	5: 99,024,805	H17L	probably benign	Het
Psmd1	T	A	1: 86,075,997	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,278,281	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,294,993	T134A	probably benign	Het
Rims1	T	C	1: 22,296,996	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,872,937	V977A	probably benign	Het
Selenov	A	T	7: 28,288,022	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,217,323	L148Q	probably damaging	Het
Slc10a1	C	T	12: 80,960,447	V187I	probably benign	Het
Spsb2	A	G	6: 124,810,376	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,687,402	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,475,199		noncoding transcript	Het
Tnrc6a	C	G	7: 123,171,046	H686Q	probably benign	Het
Trpc2	T	A	7: 102,094,573	F715L	probably benign	Het
Ube2t	T	A	1: 134,969,298	I56N	probably benign	Het
Ubr4	T	C	4: 139,480,652	Y4915H	possibly damaging	Het
Usp32	T	A	11: 85,040,004	E533D	probably damaging	Het
Vipr2	T	G	12: 116,122,810		probably null	Het
Vmn1r15	A	G	6: 57,258,284	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,524,447	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,076,208	N139K	probably damaging	Het
Vmn1r232	C	T	17: 20,913,339	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,227,214	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,966,696		probably null	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
R1381:Rusc2	UTSW	4	43416137	missense	probably damaging	1.00
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
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
R8727:Rusc2	UTSW	4	43401351	intron	probably benign
X0025:Rusc2	UTSW	4	43422226	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43422204	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCCTTCTTGGTGCAGGAAG -3'
(R):5'- GATTCGTCGGAACTGATCTTCCAC -3'

Sequencing Primer
(F):5'- GGTGTGGGTGAGACAGGACTC -3'
(R):5'- TCTTCCACTCTTGCTCAAAGGAAAAG -3'

Posted On

2014-08-25