Mutagenetix > Incidental Mutation

Incidental Mutation 'R0471:Rusc2'

46743

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

038671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R0471 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43425486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1197 (R1197L)

Ref Sequence

ENSEMBL: ENSMUSP00000095710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000131668] [ENSMUST00000149221] [ENSMUST00000173682] [ENSMUST00000149676] [ENSMUST00000171134]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035645
AA Change: R1197L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: R1197L

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: ENSMUST00000052829

SMART Domains

Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	47	2.9e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098106
AA Change: R1197L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: R1197L

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: ENSMUST00000107928

SMART Domains

Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	1.3e-20	PFAM
Pfam:DUF2475	212	251	6.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107929

SMART Domains

Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	1.5e-20	PFAM
Pfam:DUF2475	232	271	7.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125393

Predicted Effect

probably damaging
Transcript: ENSMUST00000131668
AA Change: R1197L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: R1197L

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

noncoding transcript
Transcript: ENSMUST00000146710

Predicted Effect

probably benign
Transcript: ENSMUST00000149221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

probably benign
Transcript: ENSMUST00000173682

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969

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

probably benign
Transcript: ENSMUST00000155080

Predicted Effect

probably benign
Transcript: ENSMUST00000149676

Predicted Effect

probably benign
Transcript: ENSMUST00000171134

SMART Domains

Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	7.2e-21	PFAM

Meta Mutation Damage Score

0.1758

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	G	A	4: 35,193,257	T232I	probably benign	Het
Acp6	T	C	3: 97,168,575		probably null	Het
Adam33	C	A	2: 131,054,479	G437C	probably damaging	Het
Aldh1a1	T	A	19: 20,602,013	M1K	probably null	Het
Amotl2	C	A	9: 102,720,519	P126Q	probably damaging	Het
Ap1g1	T	A	8: 109,853,643	M576K	possibly damaging	Het
Apob	C	A	12: 7,990,406	A581E	probably damaging	Het
Asb7	A	T	7: 66,679,159	D44E	probably damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Ccdc65	A	T	15: 98,717,467	H118L	probably benign	Het
Cdc25b	A	G	2: 131,197,284	E523G	probably damaging	Het
Cdk11b	A	G	4: 155,647,542		probably benign	Het
Clec1b	A	G	6: 129,401,607		probably benign	Het
Cntrl	A	G	2: 35,127,380	T400A	probably benign	Het
Cpne4	T	G	9: 105,022,282		probably null	Het
Cyp2j6	T	A	4: 96,531,748	R249*	probably null	Het
Dock2	T	C	11: 34,688,553	I678V	probably benign	Het
Dqx1	C	T	6: 83,059,426		probably benign	Het
Dsp	A	T	13: 38,193,350	K1704*	probably null	Het
Eif2b2	T	C	12: 85,220,183	F121S	probably benign	Het
Ephx4	T	C	5: 107,413,513	V69A	possibly damaging	Het
Epn2	T	C	11: 61,535,308	Q281R	probably damaging	Het
Fgf3	A	C	7: 144,842,810	D187A	probably damaging	Het
Galnt18	C	A	7: 111,779,299		probably benign	Het
Gm4871	C	T	5: 145,031,592		probably benign	Het
Ick	G	T	9: 78,155,517		probably null	Het
Inpp4b	T	C	8: 82,041,899	I679T	possibly damaging	Het
Itpkb	A	G	1: 180,418,255	E779G	probably damaging	Het
Itsn1	G	A	16: 91,899,589	V27M	probably damaging	Het
Lrp2	C	A	2: 69,525,234	R422L	probably damaging	Het
Mmp25	G	A	17: 23,639,884	A231V	possibly damaging	Het
Mprip	T	C	11: 59,759,735	S1422P	probably damaging	Het
Mro	A	T	18: 73,876,789	Q176L	probably benign	Het
Mrpl12	A	G	11: 120,488,403	E192G	probably damaging	Het
Myo5b	A	T	18: 74,728,954		probably benign	Het
Ncam2	G	T	16: 81,200,884		probably benign	Het
Nip7	T	C	8: 107,057,317	L63P	probably damaging	Het
Nsd3	T	C	8: 25,648,434		probably benign	Het
Nup98	A	T	7: 102,138,797	V1022D	probably benign	Het
Olfr1173	A	G	2: 88,274,215	V278A	possibly damaging	Het
Olfr1391	T	A	11: 49,327,917	C169S	probably damaging	Het
Olfr190	A	G	16: 59,074,270	I270T	probably benign	Het
Olfr846	A	T	9: 19,360,881	L158*	probably null	Het
P4ha2	T	C	11: 54,117,608	Y214H	possibly damaging	Het
Pacrg	A	T	17: 10,576,478	F184L	possibly damaging	Het
Parpbp	T	A	10: 88,093,707	R426S	probably damaging	Het
Pcdhb5	T	A	18: 37,321,306	Y246*	probably null	Het
Pik3cg	T	A	12: 32,194,771	T895S	probably damaging	Het
Prkch	T	C	12: 73,691,652	Y178H	probably benign	Het
Svep1	T	C	4: 58,054,700	E3296G	possibly damaging	Het
Svs3a	A	G	2: 164,289,881	K123R	probably benign	Het
Sycp2l	A	G	13: 41,150,530		probably null	Het
Syne3	T	C	12: 104,943,426	H717R	probably benign	Het
Tiprl	A	G	1: 165,222,523		probably null	Het
Trim24	T	G	6: 37,915,195	V151G	possibly damaging	Het
Trim33	T	C	3: 103,326,901	V56A	possibly damaging	Het
Trim67	C	A	8: 124,794,658	T253K	probably benign	Het
Trip12	T	C	1: 84,726,207	E698G	probably damaging	Het
Tspan14	T	C	14: 40,915,396	D145G	probably damaging	Het
Ushbp1	G	A	8: 71,394,377	Q204*	probably null	Het
Vmn1r71	G	C	7: 10,748,092	S223C	possibly damaging	Het
Vmn2r75	G	T	7: 86,165,513	N257K	probably benign	Het
Washc4	T	C	10: 83,558,734		probably benign	Het
Zc3h7b	G	A	15: 81,781,968	D560N	probably damaging	Het
Zscan21	T	C	5: 138,125,140	V27A	probably benign	Het
Zzef1	A	C	11: 72,923,111	E2842A	probably 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
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
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'- GTGCAAACGAAAGCAATGTCCACAG -3'
(R):5'- TGCGAGGGAATCTAGAGCCCTCAG -3'

Sequencing Primer
(F):5'- TCTCAGGCCAGATTAGACTCG -3'
(R):5'- ACTTGCCATGATCCGAGC -3'

Posted On

2013-06-11