Mutagenetix > Incidental Mutations

Incidental Mutation 'R2861:Itsn2'

252743

Institutional Source

Beutler Lab

Gene Symbol

Itsn2

Ensembl Gene

ENSMUSG00000020640

Gene Name

intersectin 2

Synonyms

Sh3d1B, Eh domain, SH3 domain regulator of endocytosis 2, Ese2, Sh3p18

MMRRC Submission

040451-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4592638-4713962 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 4700315 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000219007] [ENSMUST00000220311]

Predicted Effect

probably benign
Transcript: ENSMUST00000062580

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640

Domain	Start	End	E-Value	Type
EH	15	109	8.44e-41	SMART
EFh	58	86	7.18e-3	SMART
low complexity region	156	169	N/A	INTRINSIC
low complexity region	215	231	N/A	INTRINSIC
EH	238	333	4.06e-43	SMART
EFh	282	310	6.16e-2	SMART
coiled coil region	366	462	N/A	INTRINSIC
coiled coil region	516	556	N/A	INTRINSIC
coiled coil region	580	715	N/A	INTRINSIC
SH3	721	778	2.65e-21	SMART
low complexity region	791	811	N/A	INTRINSIC
SH3	855	909	8.83e-18	SMART
SH3	945	999	9.1e-20	SMART
SH3	1017	1077	1.55e-13	SMART
SH3	1091	1146	7.22e-23	SMART
RhoGEF	1174	1355	1.93e-56	SMART
PH	1396	1507	1.16e-9	SMART
C2	1531	1628	3.96e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218923

Predicted Effect

probably benign
Transcript: ENSMUST00000219007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Predicted Effect

probably benign
Transcript: ENSMUST00000220311

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,965,849	S2079N	probably damaging	Het
Abca13	A	G	11: 9,309,057	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,626,010	V1131M	probably benign	Het
Abcd1	T	A	X: 73,737,458	L713H	probably damaging	Het
Actg1	T	C	11: 120,346,801	I52V	probably benign	Het
Ang	G	T	14: 51,101,818	D139Y	probably damaging	Het
Ano1	C	T	7: 144,590,012	G1011E	probably damaging	Het
Apoe	T	C	7: 19,697,554	Y46C	probably damaging	Het
Ash1l	T	C	3: 89,054,478	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277	D250G	probably damaging	Het
Atr	A	G	9: 95,874,243	N836S	probably benign	Het
Btg3	A	G	16: 78,364,980	V114A	probably damaging	Het
C2	T	C	17: 34,863,878	T471A	possibly damaging	Het
C4b	T	A	17: 34,734,758	S959C	probably damaging	Het
Cap1	A	T	4: 122,864,725	S221T	probably benign	Het
Capn2	A	T	1: 182,472,920		probably benign	Het
Cd38	A	G	5: 43,901,433	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,334,101	R202G	probably damaging	Het
Col22a1	A	G	15: 71,815,943		probably null	Het
Cps1	A	T	1: 67,166,375	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,460,694	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,455,499	Y215*	probably null	Het
F5	A	T	1: 164,184,964	K482N	probably damaging	Het
Fam212a	T	C	9: 107,984,404	T238A	probably benign	Het
Fam45a	T	C	19: 60,814,794	S80P	probably benign	Het
Gab1	T	C	8: 80,784,753	M488V	probably benign	Het
Gabpb1	A	G	2: 126,653,574	I86T	probably damaging	Het
Gbx2	C	T	1: 89,929,131	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,603,146	R41L	probably damaging	Het
Gpn1	A	G	5: 31,497,320	D72G	probably damaging	Het
Greb1	A	G	12: 16,711,745	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,802,270	L189R	probably damaging	Het
Iglc1	T	C	16: 19,061,910		probably benign	Het
Il18r1	T	C	1: 40,498,557	V494A	possibly damaging	Het
Kcnn1	T	C	8: 70,846,535	K487R	probably benign	Het
Kdf1	G	A	4: 133,528,541	E190K	probably damaging	Het
Klhdc10	G	A	6: 30,402,140	R48H	unknown	Het
Lama3	G	T	18: 12,453,750	L723F	probably damaging	Het
Lama5	T	C	2: 180,187,247	T2034A	probably benign	Het
Maged1	G	A	X: 94,538,924	P366S	probably damaging	Het
Med14	A	G	X: 12,719,697	I521T	probably benign	Het
Mia2	A	G	12: 59,154,410	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,583,410	R53Q	possibly damaging	Het
Mum1l1	G	A	X: 139,236,680	G656S	possibly damaging	Het
Nmnat2	G	A	1: 153,112,425	V267I	probably benign	Het
Olfr1305	G	T	2: 111,873,473	C127*	probably null	Het
Olfr231	A	G	1: 174,117,732	Y95H	probably damaging	Het
Olfr490	A	G	7: 108,286,962	S55P	probably damaging	Het
Olfr715b	T	A	7: 107,106,468	H131L	probably benign	Het
Opn4	A	G	14: 34,593,828		probably null	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Parp16	G	T	9: 65,233,804	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,121,437	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,565,446	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,540,871	T2299P	probably damaging	Het
Plin4	T	C	17: 56,106,668	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,521,782	S122R	possibly damaging	Het
Rims1	A	T	1: 22,432,976	F653I	probably benign	Het
Rnf113a1	A	G	X: 37,192,083	E231G	probably damaging	Het
Rnf41	T	C	10: 128,438,154	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,593,093	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,495,177	V115M	probably damaging	Het
Snx13	T	A	12: 35,138,117	I798N	probably benign	Het
Sri	A	T	5: 8,067,540	Q178L	probably benign	Het
Tex14	T	G	11: 87,474,417	D62E	probably damaging	Het
Tshz1	G	T	18: 84,014,980	H434Q	probably damaging	Het
Vegfd	A	G	X: 164,385,883	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r59	A	G	7: 42,047,003	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,547,339	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,750,836	I335N	probably damaging	Het
Wiz	G	T	17: 32,361,706	T257K	probably damaging	Het
Xirp1	T	C	9: 120,019,815	M1V	probably null	Het
Xirp1	A	G	9: 120,018,378	S41P	probably benign	Het

Other mutations in Itsn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Itsn2	APN	12	4658027	missense	possibly damaging	0.95
IGL00647:Itsn2	APN	12	4613311	splice site	probably benign
IGL00933:Itsn2	APN	12	4707540	missense	probably damaging	1.00
IGL01686:Itsn2	APN	12	4636693	splice site	probably benign
IGL01873:Itsn2	APN	12	4632366	splice site	probably benign
IGL02200:Itsn2	APN	12	4636632	missense	probably damaging	0.98
IGL02280:Itsn2	APN	12	4708961	missense	possibly damaging	0.89
IGL02388:Itsn2	APN	12	4629557	missense	possibly damaging	0.91
IGL02938:Itsn2	APN	12	4697216	missense	probably damaging	0.98
inversus	UTSW	12	4639670	nonsense	probably null
Liberator	UTSW	12	4666176	nonsense	probably null
rolled	UTSW	12	4634792	nonsense	probably null
Stratofortress	UTSW	12	4624927	missense	probably damaging	1.00
R0101:Itsn2	UTSW	12	4633058	unclassified	probably benign
R0268:Itsn2	UTSW	12	4700333	missense	probably benign	0.12
R0584:Itsn2	UTSW	12	4697180	missense	probably benign
R0604:Itsn2	UTSW	12	4658189	missense	probably benign	0.01
R0639:Itsn2	UTSW	12	4712556	missense	probably damaging	0.99
R0738:Itsn2	UTSW	12	4635681	missense	probably benign	0.17
R1132:Itsn2	UTSW	12	4658464	missense	probably damaging	1.00
R1163:Itsn2	UTSW	12	4712009	missense	probably benign	0.30
R1169:Itsn2	UTSW	12	4639694	missense	probably damaging	1.00
R1258:Itsn2	UTSW	12	4673464	missense	probably damaging	1.00
R1297:Itsn2	UTSW	12	4700378	missense	probably damaging	1.00
R1423:Itsn2	UTSW	12	4673572	missense	probably damaging	0.97
R1572:Itsn2	UTSW	12	4650044	missense	probably benign	0.03
R1601:Itsn2	UTSW	12	4658452	missense	probably benign	0.01
R1628:Itsn2	UTSW	12	4629652	missense	probably benign
R1650:Itsn2	UTSW	12	4637767	missense	probably damaging	0.97
R1752:Itsn2	UTSW	12	4711950	splice site	probably null
R1758:Itsn2	UTSW	12	4658160	missense	possibly damaging	0.83
R1942:Itsn2	UTSW	12	4639670	nonsense	probably null
R1976:Itsn2	UTSW	12	4672733	splice site	probably benign
R2000:Itsn2	UTSW	12	4666176	nonsense	probably null
R2060:Itsn2	UTSW	12	4627879	missense	probably damaging	1.00
R2119:Itsn2	UTSW	12	4707025	missense	probably benign	0.32
R2168:Itsn2	UTSW	12	4633044	unclassified	probably benign
R2394:Itsn2	UTSW	12	4707005	missense	possibly damaging	0.86
R2860:Itsn2	UTSW	12	4700315	splice site	probably benign
R2900:Itsn2	UTSW	12	4630713	unclassified	probably benign
R2991:Itsn2	UTSW	12	4658474	missense	probably benign	0.01
R3087:Itsn2	UTSW	12	4666303	missense	probably damaging	1.00
R3881:Itsn2	UTSW	12	4634546	unclassified	probably benign
R4022:Itsn2	UTSW	12	4624927	missense	probably damaging	1.00
R4332:Itsn2	UTSW	12	4712611	missense	possibly damaging	0.72
R4657:Itsn2	UTSW	12	4713197	makesense	probably null
R4727:Itsn2	UTSW	12	4707660	missense	probably damaging	0.99
R4745:Itsn2	UTSW	12	4661944	missense	probably damaging	1.00
R4770:Itsn2	UTSW	12	4627892	missense	probably damaging	1.00
R4905:Itsn2	UTSW	12	4634583	unclassified	probably benign
R5269:Itsn2	UTSW	12	4633553	unclassified	probably benign
R5314:Itsn2	UTSW	12	4627960	missense	probably benign	0.09
R5345:Itsn2	UTSW	12	4672783	missense	probably damaging	1.00
R5399:Itsn2	UTSW	12	4653535	missense	probably benign	0.22
R5566:Itsn2	UTSW	12	4626554	missense	probably damaging	1.00
R5725:Itsn2	UTSW	12	4630767	unclassified	probably benign
R5773:Itsn2	UTSW	12	4707089	missense	probably damaging	1.00
R6116:Itsn2	UTSW	12	4629939	unclassified	probably benign
R6254:Itsn2	UTSW	12	4624982	splice site	probably null
R6325:Itsn2	UTSW	12	4706351	missense	probably damaging	1.00
R6361:Itsn2	UTSW	12	4629655	missense	probably benign	0.18
R6456:Itsn2	UTSW	12	4629923	unclassified	probably benign
R6494:Itsn2	UTSW	12	4634792	nonsense	probably null
R6854:Itsn2	UTSW	12	4652382	missense	probably benign	0.37
R6941:Itsn2	UTSW	12	4629641	missense	probably benign	0.05
R6961:Itsn2	UTSW	12	4673420	nonsense	probably null
R7326:Itsn2	UTSW	12	4632985	missense	unknown
R7387:Itsn2	UTSW	12	4639781	missense	probably damaging	1.00
R7465:Itsn2	UTSW	12	4706983	nonsense	probably null
R7471:Itsn2	UTSW	12	4708198	missense	probably benign	0.43
R7814:Itsn2	UTSW	12	4658561	missense	probably benign	0.14
Z1088:Itsn2	UTSW	12	4712472	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCACTGTGGCATGCATG -3'
(R):5'- AGAACAGAGTTGGAAGTTGTCTTGC -3'

Sequencing Primer
(F):5'- ATGCATGCCCCCGTCTTTG -3'
(R):5'- GAAGTTGTCTTGCTGAGCAG -3'

Posted On

2014-12-04