Mutagenetix > Incidental Mutations

Incidental Mutation 'R8397:Rusc2'

647643

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R8397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43424206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1090 (H1090Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038379 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035645
AA Change: H1090Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: H1090Q

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

possibly damaging
Transcript: ENSMUST00000098106
AA Change: H1090Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: H1090Q

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

probably damaging
Transcript: ENSMUST00000131668
AA Change: H1090Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: H1090Q

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: ENSMUST00000149221

Predicted Effect

probably benign
Transcript: ENSMUST00000149676

Predicted Effect

probably benign
Transcript: ENSMUST00000155080

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,040,513	T499A	probably benign	Het
Ahsa1	G	T	12: 87,273,677	E311*	probably null	Het
Apol9a	C	T	15: 77,404,613	V185I	probably benign	Het
Arhgap27	T	A	11: 103,333,247	D580V	probably damaging	Het
Arpp21	A	C	9: 112,149,372	S298A	possibly damaging	Het
B4galnt2	T	A	11: 95,866,163	T481S	probably benign	Het
Cct8	G	A	16: 87,493,763	R59C	possibly damaging	Het
Cdhr5	C	T	7: 141,271,888	G501E	possibly damaging	Het
Chka	G	A	19: 3,852,414		probably null	Het
Cit	C	A	5: 115,886,797	N366K	probably benign	Het
Dennd4a	A	T	9: 64,889,109	M806L	probably benign	Het
Dhx9	T	A	1: 153,468,911	H510L	probably damaging	Het
Esyt3	C	T	9: 99,327,913	V305I	probably benign	Het
Fbxo40	A	T	16: 36,970,623	C42S	probably damaging	Het
Fbxw26	T	C	9: 109,732,647	M160V	probably damaging	Het
Frem2	A	G	3: 53,653,141	V1315A	probably benign	Het
Gbp9	T	A	5: 105,083,598	N374I	possibly damaging	Het
Gm11992	T	G	11: 9,061,305	S249A	probably damaging	Het
Gm14418	T	A	2: 177,387,293	Q303L	probably damaging	Het
Hectd4	C	A	5: 121,259,894	P295Q	probably damaging	Het
Kdm2b	T	C	5: 122,880,516	N954D	probably benign	Het
Klf15	C	T	6: 90,466,796	H118Y	probably damaging	Het
Lrit2	G	T	14: 37,069,077	A238S	probably damaging	Het
Man2c1	A	C	9: 57,135,499	M218L	probably benign	Het
Map3k1	T	A	13: 111,755,604	H1039L	probably damaging	Het
Map3k9	A	G	12: 81,722,362	S971P	probably benign	Het
Map4k3	C	T	17: 80,664,017	V74I	probably damaging	Het
Mars	A	T	10: 127,300,499	S486T	possibly damaging	Het
Mettl13	A	T	1: 162,544,318	S327R	possibly damaging	Het
Mkks	G	A	2: 136,881,003	T78M	possibly damaging	Het
Mst1	C	T	9: 108,081,499		probably benign	Het
Myh1	G	T	11: 67,221,639	A1811S	probably damaging	Het
Myh13	A	G	11: 67,350,287	H830R	possibly damaging	Het
Nek4	A	G	14: 30,970,548	D443G	possibly damaging	Het
Nf1	T	C	11: 79,547,692	L137P	probably damaging	Het
Nipsnap3b	T	C	4: 53,012,049		probably null	Het
Nos1ap	G	T	1: 170,327,625	P220T	unknown	Het
Nrxn3	T	A	12: 90,331,809	I368N	probably benign	Het
Nup133	T	A	8: 123,922,417	Q562L	probably benign	Het
Nup214	T	A	2: 31,990,254	L342Q	probably damaging	Het
Nxn	A	G	11: 76,272,406	S264P	probably damaging	Het
Olfr739	G	T	14: 50,424,680	D54Y	probably damaging	Het
Otud4	T	C	8: 79,669,298	S567P	probably benign	Het
Patl2	A	C	2: 122,125,273	S261A	probably damaging	Het
Pcdh15	C	T	10: 74,291,033	P315S	probably damaging	Het
Pcm1	T	A	8: 41,283,579	H827Q	probably damaging	Het
Pirb	G	A	7: 3,716,046	L615F	probably damaging	Het
Ppp1r12c	T	A	7: 4,489,769	H236L	probably damaging	Het
Prkd1	C	T	12: 50,392,892	G384E	probably benign	Het
Rmnd1	C	A	10: 4,427,278	E134*	probably null	Het
Sema5b	A	C	16: 35,651,321	Y428S	possibly damaging	Het
Slc2a8	T	A	2: 32,975,998	I301L	probably benign	Het
Slc38a11	C	T	2: 65,330,291	V320M	probably damaging	Het
Slc4a5	G	T	6: 83,289,326		probably null	Het
Slc7a6	T	C	8: 106,193,533	I320T	probably damaging	Het
Slc8a3	A	G	12: 81,199,768	I837T	probably benign	Het
Spag1	C	T	15: 36,197,749	R286*	probably null	Het
Tlr3	A	T	8: 45,398,859	F334I	possibly damaging	Het
Unc13b	A	G	4: 43,217,290	I530V	probably benign	Het
Vmn2r68	T	C	7: 85,237,514	D64G	possibly damaging	Het
Zfp157	T	A	5: 138,456,256	Y239N	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
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
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
X0025:Rusc2	UTSW	4	43422226	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43422204	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGAAGTACTTGTGCCCTGC -3'
(R):5'- GTAAAGGCATCCCAAGGAGC -3'

Sequencing Primer
(F):5'- ACTCAAGGCCTTCGTACTGGATG -3'
(R):5'- CAGACACCCCTCCGGTCTC -3'

Posted On

2020-09-02