Mutagenetix > Incidental Mutation

Incidental Mutation 'R8727:Rusc2'

662486

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

068575-MU

Accession Numbers

Essential gene?

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

Stock #

R8727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 43401351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000125399] [ENSMUST00000135216] [ENSMUST00000136360] [ENSMUST00000144911] [ENSMUST00000152322]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035645

SMART Domains

Protein: ENSMUSP00000038379
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	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: ENSMUST00000125399

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: ENSMUST00000144911

Predicted Effect

probably benign
Transcript: ENSMUST00000152322

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,273,756	T1770A	unknown	Het
A630089N07Rik	C	T	16: 98,066,451	A104T	probably damaging	Het
Abhd18	T	A	3: 40,930,192	L222Q	probably damaging	Het
Adam30	C	T	3: 98,163,032	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,352,968	Q137L	probably damaging	Het
Alpl	C	T	4: 137,747,816	V269I	probably benign	Het
Ang2	C	T	14: 51,195,539	G129S	probably benign	Het
Atp6v0a1	A	T	11: 101,029,189	H216L	possibly damaging	Het
BC030500	C	T	8: 58,913,015	T61I	unknown	Het
Brpf1	T	G	6: 113,316,530	L520R	probably damaging	Het
Btbd10	A	G	7: 113,328,419	I243T	possibly damaging	Het
Bub1	C	A	2: 127,804,219	C947F	probably damaging	Het
C4b	T	C	17: 34,734,485	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,264,497	T1188A	probably benign	Het
Cnn1	G	T	9: 22,099,261		probably benign	Het
Colgalt2	T	C	1: 152,484,911	M233T	probably damaging	Het
Cox15	A	T	19: 43,746,742	C195*	probably null	Het
Cped1	A	T	6: 22,059,942	R202S	possibly damaging	Het
Dact2	A	T	17: 14,196,884	C351*	probably null	Het
Dbnl	A	G	11: 5,788,582	N8S	probably benign	Het
Depdc1a	T	A	3: 159,522,719	N369K	probably benign	Het
Dnah2	A	T	11: 69,524,179	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,430,461	Y57N	probably benign	Het
Eif2b3	A	G	4: 117,070,747	T388A	probably benign	Het
Eif4h	A	C	5: 134,625,539		probably null	Het
Elf1	C	T	14: 79,573,227	Q288*	probably null	Het
Fbxl5	A	T	5: 43,751,020		probably benign	Het
Fgl2	C	T	5: 21,375,679	R340*	probably null	Het
Fut4	T	C	9: 14,750,786	D404G	probably damaging	Het
Glmn	G	A	5: 107,570,286	P255L	probably benign	Het
Gm14322	C	T	2: 177,769,688	T97I	probably benign	Het
Gm44511	C	A	6: 128,821,034	C32F	probably damaging	Het
Gm5478	A	G	15: 101,645,436	F247S	probably damaging	Het
Gm7534	T	C	4: 134,202,839	K52E	probably benign	Het
Golgb1	T	A	16: 36,919,201	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,802,217	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,820,700	N140S	probably benign	Het
Htr4	A	T	18: 62,428,138	I157L	probably damaging	Het
Igf2bp3	G	T	6: 49,109,075		probably benign	Het
Kcnma1	T	G	14: 23,386,264	M790L	probably benign	Het
Kcnv1	G	A	15: 45,114,603	S13L	unknown	Het
Kctd20	C	T	17: 28,965,051	R312*	probably null	Het
Kdm3b	T	A	18: 34,827,382	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,402,093	F1286L	unknown	Het
Knl1	T	A	2: 119,069,043	F408L	probably benign	Het
Lypd5	G	T	7: 24,353,676	G253W	probably damaging	Het
Mea1	A	G	17: 46,681,688	T21A	probably benign	Het
Metrnl	A	G	11: 121,716,016	E299G	possibly damaging	Het
Mindy4	T	A	6: 55,279,070		probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Nbn	G	A	4: 15,963,911	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,326,773	F61I	probably benign	Het
Olfr786	T	C	10: 129,437,465	Y218H	probably benign	Het
Olfr814	T	A	10: 129,874,223	D178V	probably damaging	Het
Pcdhb20	C	T	18: 37,505,384	A321V	probably damaging	Het
Pgr	C	A	9: 8,901,543	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,750,689	V157I	probably benign	Het
Piezo2	C	T	18: 63,109,885	S621N	probably benign	Het
Plekhm1	A	C	11: 103,367,618	F1031L	probably damaging	Het
Pltp	A	G	2: 164,854,381	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,579,838	E177V	probably benign	Het
Pstk	G	T	7: 131,371,295	R41L	possibly damaging	Het
Ptprk	C	A	10: 28,566,545		probably benign	Het
Rasgrp1	T	C	2: 117,288,677	E493G	probably benign	Het
Rtn3	A	G	19: 7,457,361	L422P	probably benign	Het
Sbno2	A	G	10: 80,075,256	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,346,043	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 59,104,170		probably null	Het
Sipa1l2	T	C	8: 125,450,386	E1163G	probably benign	Het
Strip1	G	C	3: 107,614,648	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,425,992	R255C	probably benign	Het
Tex11	C	T	X: 101,015,585	V190I	possibly damaging	Het
Tln1	A	T	4: 43,555,911	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,667,571		probably benign	Het
Tspan11	A	T	6: 127,923,711	I82F	possibly damaging	Het
Ttn	T	C	2: 76,948,976	K1233E	unknown	Het
U2af2	T	A	7: 5,067,433		probably benign	Het
Usp29	A	T	7: 6,962,918	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,261,794	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,008,504	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,584,997	S221P	probably damaging	Het
Zfp229	T	C	17: 21,745,847	S353P	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
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
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'- TATTTACAGCTCTGGACAAGCCG -3'
(R):5'- ATCAGGAGACTAGGCGAGACTC -3'

Sequencing Primer
(F):5'- AGCTCTGGACAAGCCGATTGG -3'
(R):5'- GCGAGACTCAAGTCCTACCTTG -3'

Posted On

2021-03-08