Mutagenetix > Incidental Mutation

Incidental Mutation 'P0026:Rusc2'

8164

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

038279-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

P0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43415840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 382 (V382E)

Ref Sequence

ENSEMBL: ENSMUSP00000133715 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035645
AA Change: V382E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: V382E

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

possibly damaging
Transcript: ENSMUST00000098106
AA Change: V382E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: V382E

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: V382E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: V382E

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

possibly damaging
Transcript: ENSMUST00000173682
AA Change: V382E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: V382E

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

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146710

Predicted Effect

probably benign
Transcript: ENSMUST00000149221

Predicted Effect

probably benign
Transcript: ENSMUST00000144911

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: 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: ENSMUST00000152322

Meta Mutation Damage Score

0.0778

Coding Region Coverage

1x: 85.6%
3x: 78.9%
10x: 59.5%
20x: 38.1%

Validation Efficiency

97% (63/65)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,492,882 (GRCm39)	N182D	probably benign	Het
Acad10	T	C	5: 121,775,415 (GRCm39)	Y429C	probably damaging	Het
Aifm3	A	T	16: 17,324,981 (GRCm39)		probably benign	Het
Bud13	A	G	9: 46,199,656 (GRCm39)	H339R	probably benign	Het
Cpa1	T	A	6: 30,640,905 (GRCm39)	M132K	probably damaging	Het
Dapk1	T	A	13: 60,865,963 (GRCm39)		probably benign	Het
Dchs1	A	T	7: 105,407,612 (GRCm39)	N2073K	probably damaging	Het
Dnah2	A	T	11: 69,355,773 (GRCm39)	N2227K	probably damaging	Het
Dnpep	C	T	1: 75,285,329 (GRCm39)	V468I	probably benign	Het
Elf3	A	G	1: 135,183,711 (GRCm39)		probably null	Het
Fam124a	T	G	14: 62,843,571 (GRCm39)	L360V	probably damaging	Het
Fam20a	A	T	11: 109,566,667 (GRCm39)		probably null	Het
Fermt3	A	G	19: 6,991,792 (GRCm39)	S140P	probably damaging	Het
Gm10440	T	C	5: 54,513,511 (GRCm39)		noncoding transcript	Het
Il12rb1	A	G	8: 71,265,185 (GRCm39)	D167G	probably damaging	Het
Ints8	T	A	4: 11,225,788 (GRCm39)	K590*	probably null	Het
Kcnu1	T	C	8: 26,382,150 (GRCm39)	F500S	probably damaging	Het
Mrm3	T	C	11: 76,138,326 (GRCm39)	V238A	probably damaging	Het
Rap1gap2	A	G	11: 74,458,036 (GRCm39)		probably benign	Het
Slc9a5	A	G	8: 106,081,923 (GRCm39)	N216S	probably damaging	Het
Snx7	A	T	3: 117,633,672 (GRCm39)	F63I	probably damaging	Het
Syne2	A	G	12: 75,926,994 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,523,734 (GRCm39)	Y1751H	probably damaging	Het
Trappc9	G	A	15: 72,824,931 (GRCm39)	P366S	probably damaging	Het
Trim17	A	G	11: 58,862,084 (GRCm39)	D372G	possibly damaging	Het
Zfp354a	G	A	11: 50,952,325 (GRCm39)	G85R	probably null	Het

Other mutations in Rusc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Rusc2	APN	4	43,426,116 (GRCm39)	missense	probably damaging	0.97
IGL01474:Rusc2	APN	4	43,416,434 (GRCm39)	missense	probably damaging	0.98
IGL01541:Rusc2	APN	4	43,415,840 (GRCm39)	missense	probably benign	0.08
IGL01628:Rusc2	APN	4	43,425,729 (GRCm39)	missense	probably damaging	1.00
IGL01969:Rusc2	APN	4	43,415,738 (GRCm39)	missense	probably benign	0.02
IGL02030:Rusc2	APN	4	43,416,095 (GRCm39)	missense	possibly damaging	0.86
IGL02079:Rusc2	APN	4	43,425,668 (GRCm39)	missense	probably benign
IGL02115:Rusc2	APN	4	43,426,136 (GRCm39)	splice site	probably benign
IGL02122:Rusc2	APN	4	43,421,685 (GRCm39)	missense	possibly damaging	0.67
IGL02350:Rusc2	APN	4	43,425,351 (GRCm39)	missense	possibly damaging	0.86
IGL02357:Rusc2	APN	4	43,425,351 (GRCm39)	missense	possibly damaging	0.86
IGL02437:Rusc2	APN	4	43,415,545 (GRCm39)	missense	probably damaging	1.00
IGL02930:Rusc2	APN	4	43,416,376 (GRCm39)	missense	probably damaging	0.99
IGL03154:Rusc2	APN	4	43,425,806 (GRCm39)	missense	probably benign	0.00
R0036:Rusc2	UTSW	4	43,424,009 (GRCm39)	missense	probably damaging	1.00
R0068:Rusc2	UTSW	4	43,424,100 (GRCm39)	splice site	probably benign
R0068:Rusc2	UTSW	4	43,424,100 (GRCm39)	splice site	probably benign
R0114:Rusc2	UTSW	4	43,422,055 (GRCm39)	missense	probably damaging	1.00
R0255:Rusc2	UTSW	4	43,423,954 (GRCm39)	missense	probably damaging	1.00
R0471:Rusc2	UTSW	4	43,425,486 (GRCm39)	missense	probably damaging	0.99
R1381:Rusc2	UTSW	4	43,416,137 (GRCm39)	missense	probably damaging	1.00
R1413:Rusc2	UTSW	4	43,416,568 (GRCm39)	missense	probably benign	0.00
R1416:Rusc2	UTSW	4	43,421,617 (GRCm39)	missense	possibly damaging	0.86
R1731:Rusc2	UTSW	4	43,426,046 (GRCm39)	missense	probably benign
R1864:Rusc2	UTSW	4	43,421,719 (GRCm39)	missense	possibly damaging	0.49
R1897:Rusc2	UTSW	4	43,421,749 (GRCm39)	missense	probably damaging	1.00
R2010:Rusc2	UTSW	4	43,415,212 (GRCm39)	missense	probably benign	0.06
R2212:Rusc2	UTSW	4	43,415,935 (GRCm39)	missense	probably damaging	1.00
R2275:Rusc2	UTSW	4	43,416,260 (GRCm39)	missense	probably damaging	1.00
R2885:Rusc2	UTSW	4	43,415,456 (GRCm39)	missense	probably benign	0.28
R2886:Rusc2	UTSW	4	43,415,456 (GRCm39)	missense	probably benign	0.28
R3412:Rusc2	UTSW	4	43,415,935 (GRCm39)	missense	probably damaging	1.00
R3413:Rusc2	UTSW	4	43,415,935 (GRCm39)	missense	probably damaging	1.00
R3414:Rusc2	UTSW	4	43,415,935 (GRCm39)	missense	probably damaging	1.00
R3852:Rusc2	UTSW	4	43,416,424 (GRCm39)	missense	probably benign	0.45
R4135:Rusc2	UTSW	4	43,425,563 (GRCm39)	missense	possibly damaging	0.49
R4272:Rusc2	UTSW	4	43,415,533 (GRCm39)	missense	probably damaging	1.00
R4574:Rusc2	UTSW	4	43,416,080 (GRCm39)	missense	probably damaging	0.99
R4888:Rusc2	UTSW	4	43,423,942 (GRCm39)	missense	probably damaging	1.00
R5010:Rusc2	UTSW	4	43,415,926 (GRCm39)	missense	probably damaging	1.00
R5071:Rusc2	UTSW	4	43,415,240 (GRCm39)	missense	probably benign	0.05
R5131:Rusc2	UTSW	4	43,414,948 (GRCm39)	missense	probably benign	0.03
R5177:Rusc2	UTSW	4	43,421,805 (GRCm39)	splice site	probably null
R5540:Rusc2	UTSW	4	43,423,975 (GRCm39)	missense	probably damaging	1.00
R5561:Rusc2	UTSW	4	43,415,932 (GRCm39)	nonsense	probably null
R5628:Rusc2	UTSW	4	43,425,348 (GRCm39)	missense	probably damaging	1.00
R5645:Rusc2	UTSW	4	43,425,758 (GRCm39)	missense	probably benign	0.06
R6129:Rusc2	UTSW	4	43,424,271 (GRCm39)	missense	probably damaging	1.00
R6362:Rusc2	UTSW	4	43,416,416 (GRCm39)	missense	probably benign	0.30
R6633:Rusc2	UTSW	4	43,414,852 (GRCm39)	missense	probably damaging	0.99
R6980:Rusc2	UTSW	4	43,422,846 (GRCm39)	missense	probably benign	0.35
R7491:Rusc2	UTSW	4	43,426,528 (GRCm39)	missense	probably damaging	1.00
R7641:Rusc2	UTSW	4	43,425,335 (GRCm39)	missense	possibly damaging	0.84
R7698:Rusc2	UTSW	4	43,414,900 (GRCm39)	nonsense	probably null
R7710:Rusc2	UTSW	4	43,416,119 (GRCm39)	missense	probably benign	0.07
R8052:Rusc2	UTSW	4	43,421,851 (GRCm39)	missense	probably benign
R8061:Rusc2	UTSW	4	43,422,492 (GRCm39)	missense	probably damaging	1.00
R8127:Rusc2	UTSW	4	43,423,747 (GRCm39)	missense	possibly damaging	0.54
R8319:Rusc2	UTSW	4	43,425,378 (GRCm39)	missense	probably damaging	1.00
R8355:Rusc2	UTSW	4	43,422,846 (GRCm39)	missense	probably benign	0.35
R8397:Rusc2	UTSW	4	43,424,206 (GRCm39)	missense	possibly damaging	0.95
R8455:Rusc2	UTSW	4	43,422,846 (GRCm39)	missense	probably benign	0.35
R8553:Rusc2	UTSW	4	43,416,508 (GRCm39)	missense	probably benign	0.05
R8725:Rusc2	UTSW	4	43,401,351 (GRCm39)	intron	probably benign
R8725:Rusc2	UTSW	4	43,415,396 (GRCm39)	missense	probably damaging	0.99
R8727:Rusc2	UTSW	4	43,401,351 (GRCm39)	intron	probably benign
R8834:Rusc2	UTSW	4	43,416,431 (GRCm39)	missense	possibly damaging	0.94
R9295:Rusc2	UTSW	4	43,416,382 (GRCm39)	missense	probably damaging	0.98
R9483:Rusc2	UTSW	4	43,415,897 (GRCm39)	missense	probably damaging	0.97
R9666:Rusc2	UTSW	4	43,416,262 (GRCm39)	missense	probably benign	0.21
R9705:Rusc2	UTSW	4	43,424,936 (GRCm39)	missense	probably benign	0.00
X0025:Rusc2	UTSW	4	43,422,226 (GRCm39)	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43,422,204 (GRCm39)	nonsense	probably null

Posted On

2012-11-20