Mutagenetix > Incidental Mutations

Incidental Mutation 'R5071:Rusc2'

388747

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

042661-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R5071 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43415240 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 182 (D182G)

Ref Sequence

ENSEMBL: ENSMUSP00000095710 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035645
AA Change: D182G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: D182G

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: D182G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: D182G

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: D182G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: D182G

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

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

probably benign
Transcript: ENSMUST00000152322

Predicted Effect

probably benign
Transcript: ENSMUST00000173682
AA Change: D182G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: D182G

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,787,358	W528R	probably damaging	Het
Agbl1	A	G	7: 76,421,917	E329G	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
AI182371	A	T	2: 35,085,215	I334N	probably benign	Het
Aldh1b1	A	G	4: 45,803,383		probably null	Het
Armc9	G	A	1: 86,186,116	M298I	probably benign	Het
Atp8a1	T	A	5: 67,815,723	K27N	probably benign	Het
BC004004	G	A	17: 29,294,415		probably null	Het
Ccdc83	A	T	7: 90,250,529	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,516,883	V199I	probably benign	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cdh17	G	T	4: 11,810,325	G672V	probably damaging	Het
Cdh5	C	A	8: 104,140,702	T537K	probably damaging	Het
Chd1	T	A	17: 15,762,405	S1377R	probably benign	Het
Chd2	T	C	7: 73,429,689	N1821S	probably benign	Het
Cnot3	A	G	7: 3,650,861	K4R	probably damaging	Het
Colq	T	A	14: 31,528,832	I339F	possibly damaging	Het
Coq2	A	T	5: 100,667,950	L121Q	probably damaging	Het
Csnk1e	G	A	15: 79,420,872	R342*	probably null	Het
Cstl1	A	T	2: 148,750,927	M1L	probably benign	Het
Cwh43	A	G	5: 73,423,913		probably null	Het
Cyp2a22	A	T	7: 26,932,481	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,403,753	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,247,663	T123A	probably benign	Het
Dgkh	T	C	14: 78,604,532	K417E	probably damaging	Het
Dnah11	A	T	12: 118,082,453	L1750*	probably null	Het
Edn1	A	G	13: 42,303,677	E62G	probably damaging	Het
Eef1akmt1	A	G	14: 57,566,007	L30P	probably damaging	Het
Fbxo42	T	C	4: 141,198,945	W313R	probably damaging	Het
Fign	A	T	2: 63,979,693	L411*	probably null	Het
Fitm1	T	A	14: 55,575,773	V31E	possibly damaging	Het
Fryl	G	A	5: 73,074,767	P1550L	probably damaging	Het
Gabrd	A	C	4: 155,387,162	F228C	probably damaging	Het
Gm5916	A	C	9: 36,128,668	L8R	probably benign	Het
Gm9573	G	A	17: 35,620,552		probably benign	Het
Gpr108	A	G	17: 57,235,335	S557P	probably damaging	Het
Gpr75	C	A	11: 30,892,380	N428K	probably damaging	Het
H2-M5	T	G	17: 36,987,184		probably null	Het
Hdac6	A	G	X: 7,944,797	F104L	probably damaging	Homo
Homer3	T	C	8: 70,291,355	V243A	probably benign	Het
Hspg2	T	C	4: 137,540,230	S2050P	probably damaging	Het
Hydin	A	G	8: 110,538,473	N2763D	probably benign	Het
Ifi203	T	C	1: 173,935,110	Q152R	possibly damaging	Het
Ifi44	T	C	3: 151,749,632		probably benign	Het
Ifi47	A	G	11: 49,095,534	T43A	probably benign	Het
Ighv1-24	A	G	12: 114,773,128	Y51H	probably benign	Het
Inf2	A	T	12: 112,612,039		probably null	Het
Insl6	T	C	19: 29,325,255	R21G	probably benign	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Ltbp3	T	C	19: 5,756,823	C1043R	probably damaging	Het
Mkl1	A	G	15: 81,022,426	V91A	probably damaging	Het
Mpeg1	T	A	19: 12,461,181	M1K	probably null	Het
Ncald	A	T	15: 37,397,234	H67Q	probably damaging	Het
Nek9	C	A	12: 85,327,459	R268L	possibly damaging	Het
Nudt5	T	A	2: 5,864,387	H141Q	probably benign	Het
Numbl	G	A	7: 27,280,990	D466N	probably damaging	Het
Olfr1100	A	T	2: 86,978,322	V158D	possibly damaging	Het
Olfr1186	T	C	2: 88,526,041	S153P	probably damaging	Het
Olfr167	A	G	16: 19,515,027	I203T	probably benign	Het
Olfr310	A	G	7: 86,269,591	I66T	probably damaging	Het
Olfr606	A	T	7: 103,451,410	E24D	probably benign	Het
Olfr668	A	C	7: 104,925,493	N90K	probably benign	Het
Olfr986	T	C	9: 40,187,664	L183S	probably damaging	Het
Pik3c2g	T	A	6: 139,720,147	C65S	probably null	Het
Plagl1	A	G	10: 13,127,261	Y91C	probably damaging	Het
Polr1a	A	G	6: 71,931,709	N506S	possibly damaging	Het
Pomt2	A	C	12: 87,133,460	C256G	probably damaging	Het
Psg29	T	A	7: 17,211,838	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,251,260	N573I	probably damaging	Het
Ptprf	C	A	4: 118,211,999	G1624W	probably damaging	Het
Rbm38	C	T	2: 173,022,082	P15S	probably benign	Het
Rc3h1	A	G	1: 160,959,477	D814G	possibly damaging	Het
Rnf40	T	C	7: 127,597,286	L802P	probably damaging	Het
Setd1b	A	G	5: 123,160,914		probably benign	Het
Slc4a2	G	A	5: 24,438,762	S855N	probably benign	Het
Slc8a2	T	C	7: 16,150,583	L626P	possibly damaging	Het
Slirp	A	G	12: 87,444,014	T29A	probably damaging	Het
Smarcc2	A	G	10: 128,463,940	D158G	probably damaging	Het
Sptbn1	A	G	11: 30,113,854		probably null	Het
St3gal5	T	C	6: 72,132,053	C42R	probably damaging	Het
Syt7	T	C	19: 10,443,428	S397P	possibly damaging	Het
Tenm2	T	A	11: 36,068,381	T1114S	probably damaging	Het
Thada	T	A	17: 84,386,532	D1263V	probably damaging	Het
Tmco3	G	T	8: 13,292,860	E199*	probably null	Het
Tpcn1	A	T	5: 120,548,269		probably null	Het
Tppp2	G	A	14: 51,920,455	R119Q	probably benign	Het
Trim30d	A	C	7: 104,487,958	V13G	probably damaging	Het
Ubxn2b	A	T	4: 6,214,746	Q260L	probably damaging	Het
Ufl1	A	G	4: 25,254,780	Y559H	probably benign	Het
Usp5	A	G	6: 124,826,379	F7L	probably benign	Het
Utrn	A	T	10: 12,384,204		probably null	Het
Vmn1r28	A	T	6: 58,265,909	I246F	probably benign	Het
Vmn2r2	C	A	3: 64,116,900	M753I	probably benign	Het
Zbtb26	T	C	2: 37,435,929	H365R	probably benign	Het
Zfp976	A	T	7: 42,612,930	Y494*	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
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
R5131:Rusc2	UTSW	4	43414948	missense	probably benign	0.03
R5177:Rusc2	UTSW	4	43421805	unclassified	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	not run
R8061:Rusc2	UTSW	4	43422492	missense	not run
X0025:Rusc2	UTSW	4	43422226	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43422204	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAATCCCTTCTTGGTGCAGGAAG -3'
(R):5'- TTCGTCGGAACTGATCTTCCAC -3'

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

Posted On

2016-06-06