Mutagenetix > Incidental Mutation

Incidental Mutation 'R8355:Rusc2'

645722

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

067869-MU

Accession Numbers

Essential gene?

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

Stock #

R8355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43422846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 994 (I994M)

Ref Sequence

ENSEMBL: ENSMUSP00000095710 (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

probably benign
Transcript: ENSMUST00000035645
AA Change: I994M

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: I994M

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: I994M

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: I994M

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 benign
Transcript: ENSMUST00000131668
AA Change: I994M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: I994M

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: 99.6%
20x: 98.6%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,326,975 (GRCm38)	V40A	possibly damaging	Het
Adgra1	T	A	7: 139,875,651 (GRCm38)	C398*	probably null	Het
Amy2a1	T	A	3: 113,530,396 (GRCm38)	D165V	probably benign	Het
Atf6b	A	G	17: 34,648,223 (GRCm38)	D63G	probably benign	Het
BC024139	T	C	15: 76,119,807 (GRCm38)	D753G	probably benign	Het
Dnah3	T	G	7: 119,952,208 (GRCm38)	T2963P	probably damaging	Het
Fanci	G	T	7: 79,435,281 (GRCm38)	L818F	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817 (GRCm38)		probably benign	Het
Gm4559	C	A	7: 142,273,957 (GRCm38)	C136F	unknown	Het
Gm45844	G	A	7: 7,278,222 (GRCm38)		probably benign	Het
Kmt2c	T	A	5: 25,354,501 (GRCm38)		probably null	Het
Lpo	G	A	11: 87,814,288 (GRCm38)	L407F	probably damaging	Het
Mus81	T	C	19: 5,484,192 (GRCm38)	Y366C	probably damaging	Het
Nipbl	T	C	15: 8,335,044 (GRCm38)	D1292G	probably damaging	Het
Nox3	A	G	17: 3,685,923 (GRCm38)	S143P	probably damaging	Het
Npepps	A	T	11: 97,241,974 (GRCm38)	I309N	probably damaging	Het
Nufip2	C	T	11: 77,692,433 (GRCm38)	T391I	probably damaging	Het
Or5g25	T	A	2: 85,648,141 (GRCm38)	Y60F	probably damaging	Het
Or7e177	A	G	9: 20,300,419 (GRCm38)	Y74C	probably damaging	Het
Piezo2	A	T	18: 63,090,998 (GRCm38)	V935E	probably damaging	Het
Sgcz	T	C	8: 37,723,085 (GRCm38)	I96V	probably benign	Het
Tmem108	A	G	9: 103,499,870 (GRCm38)	S127P	possibly damaging	Het
Tmem178b	G	A	6: 40,254,935 (GRCm38)	V168I	unknown	Het
Tut1	T	C	19: 8,959,262 (GRCm38)	V150A	probably benign	Het
Txnl4a	T	A	18: 80,207,324 (GRCm38)	L45Q	probably damaging	Het
V1ra8	C	T	6: 90,203,465 (GRCm38)	R217W	probably damaging	Het
Vmn2r95	A	G	17: 18,440,090 (GRCm38)	T255A	probably benign	Het
Zfp605	A	G	5: 110,111,982 (GRCm38)		probably benign	Het

Other mutations in Rusc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Rusc2	APN	4	43,426,116 (GRCm38)	missense	probably damaging	0.97
IGL01474:Rusc2	APN	4	43,416,434 (GRCm38)	missense	probably damaging	0.98
IGL01541:Rusc2	APN	4	43,415,840 (GRCm38)	missense	probably benign	0.08
IGL01628:Rusc2	APN	4	43,425,729 (GRCm38)	missense	probably damaging	1.00
IGL01969:Rusc2	APN	4	43,415,738 (GRCm38)	missense	probably benign	0.02
IGL02030:Rusc2	APN	4	43,416,095 (GRCm38)	missense	possibly damaging	0.86
IGL02079:Rusc2	APN	4	43,425,668 (GRCm38)	missense	probably benign
IGL02115:Rusc2	APN	4	43,426,136 (GRCm38)	splice site	probably benign
IGL02122:Rusc2	APN	4	43,421,685 (GRCm38)	missense	possibly damaging	0.67
IGL02350:Rusc2	APN	4	43,425,351 (GRCm38)	missense	possibly damaging	0.86
IGL02357:Rusc2	APN	4	43,425,351 (GRCm38)	missense	possibly damaging	0.86
IGL02437:Rusc2	APN	4	43,415,545 (GRCm38)	missense	probably damaging	1.00
IGL02930:Rusc2	APN	4	43,416,376 (GRCm38)	missense	probably damaging	0.99
IGL03154:Rusc2	APN	4	43,425,806 (GRCm38)	missense	probably benign	0.00
P0026:Rusc2	UTSW	4	43,415,840 (GRCm38)	missense	possibly damaging	0.93
R0036:Rusc2	UTSW	4	43,424,009 (GRCm38)	missense	probably damaging	1.00
R0068:Rusc2	UTSW	4	43,424,100 (GRCm38)	splice site	probably benign
R0068:Rusc2	UTSW	4	43,424,100 (GRCm38)	splice site	probably benign
R0114:Rusc2	UTSW	4	43,422,055 (GRCm38)	missense	probably damaging	1.00
R0255:Rusc2	UTSW	4	43,423,954 (GRCm38)	missense	probably damaging	1.00
R0471:Rusc2	UTSW	4	43,425,486 (GRCm38)	missense	probably damaging	0.99
R1381:Rusc2	UTSW	4	43,416,137 (GRCm38)	missense	probably damaging	1.00
R1413:Rusc2	UTSW	4	43,416,568 (GRCm38)	missense	probably benign	0.00
R1416:Rusc2	UTSW	4	43,421,617 (GRCm38)	missense	possibly damaging	0.86
R1731:Rusc2	UTSW	4	43,426,046 (GRCm38)	missense	probably benign
R1864:Rusc2	UTSW	4	43,421,719 (GRCm38)	missense	possibly damaging	0.49
R1897:Rusc2	UTSW	4	43,421,749 (GRCm38)	missense	probably damaging	1.00
R2010:Rusc2	UTSW	4	43,415,212 (GRCm38)	missense	probably benign	0.06
R2212:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R2275:Rusc2	UTSW	4	43,416,260 (GRCm38)	missense	probably damaging	1.00
R2885:Rusc2	UTSW	4	43,415,456 (GRCm38)	missense	probably benign	0.28
R2886:Rusc2	UTSW	4	43,415,456 (GRCm38)	missense	probably benign	0.28
R3412:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R3413:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R3414:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R3852:Rusc2	UTSW	4	43,416,424 (GRCm38)	missense	probably benign	0.45
R4135:Rusc2	UTSW	4	43,425,563 (GRCm38)	missense	possibly damaging	0.49
R4272:Rusc2	UTSW	4	43,415,533 (GRCm38)	missense	probably damaging	1.00
R4574:Rusc2	UTSW	4	43,416,080 (GRCm38)	missense	probably damaging	0.99
R4888:Rusc2	UTSW	4	43,423,942 (GRCm38)	missense	probably damaging	1.00
R5010:Rusc2	UTSW	4	43,415,926 (GRCm38)	missense	probably damaging	1.00
R5071:Rusc2	UTSW	4	43,415,240 (GRCm38)	missense	probably benign	0.05
R5131:Rusc2	UTSW	4	43,414,948 (GRCm38)	missense	probably benign	0.03
R5177:Rusc2	UTSW	4	43,421,805 (GRCm38)	splice site	probably null
R5540:Rusc2	UTSW	4	43,423,975 (GRCm38)	missense	probably damaging	1.00
R5561:Rusc2	UTSW	4	43,415,932 (GRCm38)	nonsense	probably null
R5628:Rusc2	UTSW	4	43,425,348 (GRCm38)	missense	probably damaging	1.00
R5645:Rusc2	UTSW	4	43,425,758 (GRCm38)	missense	probably benign	0.06
R6129:Rusc2	UTSW	4	43,424,271 (GRCm38)	missense	probably damaging	1.00
R6362:Rusc2	UTSW	4	43,416,416 (GRCm38)	missense	probably benign	0.30
R6633:Rusc2	UTSW	4	43,414,852 (GRCm38)	missense	probably damaging	0.99
R6980:Rusc2	UTSW	4	43,422,846 (GRCm38)	missense	probably benign	0.35
R7491:Rusc2	UTSW	4	43,426,528 (GRCm38)	missense	probably damaging	1.00
R7641:Rusc2	UTSW	4	43,425,335 (GRCm38)	missense	possibly damaging	0.84
R7698:Rusc2	UTSW	4	43,414,900 (GRCm38)	nonsense	probably null
R7710:Rusc2	UTSW	4	43,416,119 (GRCm38)	missense	probably benign	0.07
R8052:Rusc2	UTSW	4	43,421,851 (GRCm38)	missense	probably benign
R8061:Rusc2	UTSW	4	43,422,492 (GRCm38)	missense	probably damaging	1.00
R8127:Rusc2	UTSW	4	43,423,747 (GRCm38)	missense	possibly damaging	0.54
R8319:Rusc2	UTSW	4	43,425,378 (GRCm38)	missense	probably damaging	1.00
R8397:Rusc2	UTSW	4	43,424,206 (GRCm38)	missense	possibly damaging	0.95
R8455:Rusc2	UTSW	4	43,422,846 (GRCm38)	missense	probably benign	0.35
R8553:Rusc2	UTSW	4	43,416,508 (GRCm38)	missense	probably benign	0.05
R8725:Rusc2	UTSW	4	43,401,351 (GRCm38)	intron	probably benign
R8725:Rusc2	UTSW	4	43,415,396 (GRCm38)	missense	probably damaging	0.99
R8727:Rusc2	UTSW	4	43,401,351 (GRCm38)	intron	probably benign
R8834:Rusc2	UTSW	4	43,416,431 (GRCm38)	missense	possibly damaging	0.94
R9295:Rusc2	UTSW	4	43,416,382 (GRCm38)	missense	probably damaging	0.98
R9483:Rusc2	UTSW	4	43,415,897 (GRCm38)	missense	probably damaging	0.97
R9666:Rusc2	UTSW	4	43,416,262 (GRCm38)	missense	probably benign	0.21
R9705:Rusc2	UTSW	4	43,424,936 (GRCm38)	missense	probably benign	0.00
X0025:Rusc2	UTSW	4	43,422,226 (GRCm38)	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43,422,204 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGTTGTACTCAGAGCAAGC -3'
(R):5'- TGATACGTGGCCCTCATTCAC -3'

Sequencing Primer
(F):5'- AGCTGAGAAGGGCCTGGC -3'
(R):5'- GTGGCCCTCATTCACTCAGAC -3'

Posted On

2020-09-02