Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Rusc2'

441044

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

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

Stock #

R5645 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43425758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1288 (A1288S)

Ref Sequence

ENSEMBL: ENSMUSP00000118528 (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 benign
Transcript: ENSMUST00000035645
AA Change: A1288S

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

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: A1288S

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 benign
Transcript: ENSMUST00000098106
AA Change: A1288S

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

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: A1288S

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 benign
Transcript: ENSMUST00000131668
AA Change: A1288S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: A1288S

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: ENSMUST00000150066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154754

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000155080

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,397,204	I169V	probably damaging	Het
2310007B03Rik	T	C	1: 93,152,946	T413A	probably damaging	Het
4930503B20Rik	C	T	3: 146,650,509	E215K	probably damaging	Het
5830411N06Rik	G	A	7: 140,248,940	V171I	possibly damaging	Het
Abca6	T	C	11: 110,250,408	E29G	probably damaging	Het
Acsm1	A	G	7: 119,640,697	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,420	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,729,202		probably null	Het
Agbl4	A	T	4: 111,657,330	I513F	possibly damaging	Het
Ak5	A	T	3: 152,656,033	M84K	possibly damaging	Het
Akap1	T	C	11: 88,845,627	T103A	probably benign	Het
Akap9	A	G	5: 4,050,590	T2751A	probably benign	Het
Amer3	A	T	1: 34,588,381	H567L	possibly damaging	Het
Ano6	A	G	15: 95,920,351	Y325C	probably benign	Het
Apba2	A	G	7: 64,695,806	E248G	possibly damaging	Het
Asap2	T	A	12: 21,265,982	V967E	probably damaging	Het
Boc	A	G	16: 44,499,661	V320A	probably damaging	Het
Car13	T	A	3: 14,645,120	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,552,356	T1976A	probably benign	Het
Cep295	A	T	9: 15,332,794	H1455Q	probably damaging	Het
Cep295	C	A	9: 15,335,108	S684I	possibly damaging	Het
Cr2	G	T	1: 195,154,273	H861N	probably damaging	Het
Cul5	T	C	9: 53,622,943	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,994,152	V145I	probably benign	Het
Dnmt1	G	A	9: 20,922,147	T500M	probably damaging	Het
Fam161a	T	A	11: 23,015,725	I6N	probably damaging	Het
Fam214a	T	A	9: 75,025,679	V976E	probably damaging	Het
Fry	T	C	5: 150,380,867	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,824,826	L553I	probably benign	Het
Gm1123	T	C	9: 99,014,191	D212G	probably benign	Het
Grin2a	T	A	16: 9,992,226	D103V	probably damaging	Het
Heg1	A	G	16: 33,706,963	I98V	probably benign	Het
Hmcn2	C	A	2: 31,420,812	T3356N	possibly damaging	Het
Hpf1	T	G	8: 60,896,800	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,404,227	D452G	possibly damaging	Het
Ikbkap	T	C	4: 56,776,920	T626A	possibly damaging	Het
Iqcc	A	T	4: 129,616,527	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,117,699	I669T	probably damaging	Het
Itgae	A	G	11: 73,129,248	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,801,344	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426	D600G	possibly damaging	Het
Klf13	G	A	7: 63,891,600		probably benign	Het
Kmt2d	A	G	15: 98,844,397		probably benign	Het
Lama1	A	G	17: 67,802,948	D2188G	probably damaging	Het
Leng8	A	G	7: 4,145,274	T682A	probably damaging	Het
Mslnl	G	T	17: 25,737,842	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,188,608	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,188,615		probably null	Het
Nkx2-2	T	C	2: 147,184,399	T140A	probably damaging	Het
Olfr1233	A	T	2: 89,339,705	V199E	possibly damaging	Het
Olfr745	T	C	14: 50,643,067	V262A	probably benign	Het
Oser1	C	T	2: 163,407,045	R79H	probably damaging	Het
Pfas	A	G	11: 68,991,132	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,532,992	E1970G	probably benign	Het
Prph2	G	T	17: 46,910,667		probably benign	Het
Sdha	A	G	13: 74,323,839		probably null	Het
Sec16a	T	G	2: 26,439,895	T703P	probably benign	Het
Senp7	T	A	16: 56,173,208	N724K	possibly damaging	Het
Skint1	A	G	4: 112,025,502	I248V	probably benign	Het
Slc9a5	T	C	8: 105,357,013	V395A	probably benign	Het
Slco1a4	T	C	6: 141,834,659	N135S	possibly damaging	Het
Sncaip	A	G	18: 52,894,956	I412M	probably damaging	Het
Tacc2	A	T	7: 130,624,051	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,351,837	H281Q	probably benign	Het
Tex46	G	T	4: 136,612,917	M104I	probably benign	Het
Tjp3	T	C	10: 81,278,620		probably null	Het
Treh	A	G	9: 44,682,678	Y154C	probably damaging	Het
Trim80	T	A	11: 115,446,785	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,853,604	K1278E	probably damaging	Het
Usp34	T	C	11: 23,375,024	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,247,748	S267P	probably benign	Het
Ywhae	T	C	11: 75,756,924	M160T	probably benign	Het
Zcchc11	G	A	4: 108,557,373	R49H	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
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
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
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'- ACTCAACACTGCAGTTGGCC -3'
(R):5'- TCAGCTAGCACAGAGTCAGG -3'

Sequencing Primer
(F):5'- ACACTGCAGTTGGCCAGGTC -3'
(R):5'- AAGGCCAGCCCCTTTCTTGG -3'

Posted On

2016-11-08