Mutagenetix > Incidental Mutation

Incidental Mutation 'R6456:Itsn2'

520210

Institutional Source

Beutler Lab

Gene Symbol

Itsn2

Ensembl Gene

ENSMUSG00000020640

Gene Name

intersectin 2

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4642792-4763952 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 4679923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000218402] [ENSMUST00000220311] [ENSMUST00000219007]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000062580
AA Change: S205R

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: S205R

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

probably benign
Transcript: ENSMUST00000217672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218072

Predicted Effect

probably benign
Transcript: ENSMUST00000218402

Predicted Effect

unknown
Transcript: ENSMUST00000220311
AA Change: S205R

Predicted Effect

unknown
Transcript: ENSMUST00000219007
AA Change: S205R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,240,474 (GRCm39)	H779L	possibly damaging	Het
Abca7	T	C	10: 79,850,984 (GRCm39)	V2097A	probably null	Het
Adam8	A	G	7: 139,566,701 (GRCm39)	S524P	possibly damaging	Het
Anapc2	T	C	2: 25,170,207 (GRCm39)	M575T	probably damaging	Het
Arhgap42	T	A	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
AU040320	A	G	4: 126,736,284 (GRCm39)	N789S	probably benign	Het
Bmi1	A	G	2: 18,687,058 (GRCm39)	Y46C	probably damaging	Het
Brd10	G	A	19: 29,693,914 (GRCm39)	P1860S	possibly damaging	Het
Ccdc125	T	C	13: 100,832,817 (GRCm39)	S465P	possibly damaging	Het
Cd180	C	T	13: 102,839,344 (GRCm39)	L76F	probably damaging	Het
Cep135	T	C	5: 76,739,571 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,822,676 (GRCm39)	T227I	unknown	Het
Cyp4a29	G	T	4: 115,108,381 (GRCm39)	M368I	probably benign	Het
Ddx28	T	A	8: 106,737,000 (GRCm39)	I353F	possibly damaging	Het
Dhx40	G	A	11: 86,675,800 (GRCm39)	T198M	probably damaging	Het
Dnai4	A	C	4: 102,906,746 (GRCm39)	M689R	probably benign	Het
Dync2i2	T	C	2: 29,922,779 (GRCm39)	S323G	probably benign	Het
Fat4	G	A	3: 39,038,128 (GRCm39)	V3927M	possibly damaging	Het
Garin1b	A	G	6: 29,334,045 (GRCm39)	N299S	probably benign	Het
Gm10226	G	T	17: 21,910,932 (GRCm39)	G56*	probably null	Het
H2-T15	A	T	17: 36,367,502 (GRCm39)	Y279N	probably damaging	Het
Lrrc8a	A	G	2: 30,145,486 (GRCm39)	D100G	probably benign	Het
Madd	T	C	2: 91,008,536 (GRCm39)	H122R	probably benign	Het
Mfsd4b3-ps	C	G	10: 39,823,316 (GRCm39)	V315L	probably benign	Het
Mki67	C	G	7: 135,301,204 (GRCm39)	A1277P	possibly damaging	Het
Nlrp9b	T	A	7: 19,782,703 (GRCm39)	N872K	probably damaging	Het
Npas1	T	C	7: 16,195,851 (GRCm39)	T274A	probably benign	Het
Nrm	A	T	17: 36,176,292 (GRCm39)		probably null	Het
Or10j2	A	T	1: 173,098,105 (GRCm39)	D121V	probably damaging	Het
Pdilt	T	A	7: 119,099,706 (GRCm39)	L187F	probably damaging	Het
Pkdcc	T	C	17: 83,527,548 (GRCm39)	I242T	probably damaging	Het
Plch2	C	A	4: 155,077,459 (GRCm39)	D535Y	probably damaging	Het
Pmpca	T	A	2: 26,285,179 (GRCm39)	I468N	probably damaging	Het
Prpf4	T	C	4: 62,332,869 (GRCm39)		probably null	Het
Rcc1	A	G	4: 132,061,427 (GRCm39)	S361P	probably benign	Het
Rigi	T	A	4: 40,213,838 (GRCm39)	N607Y	possibly damaging	Het
Rnf213	A	G	11: 119,350,792 (GRCm39)	I3876V	probably benign	Het
Sall2	T	A	14: 52,551,050 (GRCm39)	Q715L	probably damaging	Het
Sall2	G	A	14: 52,551,051 (GRCm39)	Q713*	probably null	Het
Sin3a	A	G	9: 57,020,985 (GRCm39)	S1004G	possibly damaging	Het
Sltm	C	T	9: 70,450,269 (GRCm39)	T23M	probably damaging	Het
Spata31e2	T	A	1: 26,724,250 (GRCm39)	H310L	probably damaging	Het
Sspo	A	G	6: 48,428,740 (GRCm39)	E385G	probably benign	Het
Syne3	G	T	12: 104,906,963 (GRCm39)	R775S	possibly damaging	Het
Szt2	A	T	4: 118,233,894 (GRCm39)		probably benign	Het
Tlk2	T	C	11: 105,112,099 (GRCm39)	S151P	probably benign	Het
Trabd2b	C	T	4: 114,443,757 (GRCm39)	R305C	probably damaging	Het
Ttc21b	T	C	2: 66,018,675 (GRCm39)	Q1244R	probably damaging	Het
Vmn2r125	A	G	4: 156,703,357 (GRCm39)	N245S	probably benign	Het
Wdr64	G	A	1: 175,613,175 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly damaging	Het

Other mutations in Itsn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Itsn2	APN	12	4,708,027 (GRCm39)	missense	possibly damaging	0.95
IGL00647:Itsn2	APN	12	4,663,311 (GRCm39)	splice site	probably benign
IGL00933:Itsn2	APN	12	4,757,540 (GRCm39)	missense	probably damaging	1.00
IGL01686:Itsn2	APN	12	4,686,693 (GRCm39)	splice site	probably benign
IGL01873:Itsn2	APN	12	4,682,366 (GRCm39)	splice site	probably benign
IGL02200:Itsn2	APN	12	4,686,632 (GRCm39)	missense	probably damaging	0.98
IGL02280:Itsn2	APN	12	4,758,961 (GRCm39)	missense	possibly damaging	0.89
IGL02388:Itsn2	APN	12	4,679,557 (GRCm39)	missense	possibly damaging	0.91
IGL02938:Itsn2	APN	12	4,747,216 (GRCm39)	missense	probably damaging	0.98
Gopher	UTSW	12	4,756,983 (GRCm39)	nonsense	probably null
inversus	UTSW	12	4,689,670 (GRCm39)	nonsense	probably null
Liberator	UTSW	12	4,716,176 (GRCm39)	nonsense	probably null
rolled	UTSW	12	4,684,792 (GRCm39)	nonsense	probably null
Stratofortress	UTSW	12	4,674,927 (GRCm39)	missense	probably damaging	1.00
Underground	UTSW	12	4,751,276 (GRCm39)	missense	probably damaging	1.00
Vole	UTSW	12	4,723,420 (GRCm39)	nonsense	probably null
R0101:Itsn2	UTSW	12	4,683,058 (GRCm39)	unclassified	probably benign
R0268:Itsn2	UTSW	12	4,750,333 (GRCm39)	missense	probably benign	0.12
R0584:Itsn2	UTSW	12	4,747,180 (GRCm39)	missense	probably benign
R0604:Itsn2	UTSW	12	4,708,189 (GRCm39)	missense	probably benign	0.01
R0639:Itsn2	UTSW	12	4,762,556 (GRCm39)	missense	probably damaging	0.99
R0738:Itsn2	UTSW	12	4,685,681 (GRCm39)	missense	probably benign	0.17
R1132:Itsn2	UTSW	12	4,708,464 (GRCm39)	missense	probably damaging	1.00
R1163:Itsn2	UTSW	12	4,762,009 (GRCm39)	missense	probably benign	0.30
R1169:Itsn2	UTSW	12	4,689,694 (GRCm39)	missense	probably damaging	1.00
R1258:Itsn2	UTSW	12	4,723,464 (GRCm39)	missense	probably damaging	1.00
R1297:Itsn2	UTSW	12	4,750,378 (GRCm39)	missense	probably damaging	1.00
R1423:Itsn2	UTSW	12	4,723,572 (GRCm39)	missense	probably damaging	0.97
R1572:Itsn2	UTSW	12	4,700,044 (GRCm39)	missense	probably benign	0.03
R1601:Itsn2	UTSW	12	4,708,452 (GRCm39)	missense	probably benign	0.01
R1628:Itsn2	UTSW	12	4,679,652 (GRCm39)	missense	probably benign
R1650:Itsn2	UTSW	12	4,687,767 (GRCm39)	missense	probably damaging	0.97
R1752:Itsn2	UTSW	12	4,761,950 (GRCm39)	splice site	probably null
R1758:Itsn2	UTSW	12	4,708,160 (GRCm39)	missense	possibly damaging	0.83
R1942:Itsn2	UTSW	12	4,689,670 (GRCm39)	nonsense	probably null
R1976:Itsn2	UTSW	12	4,722,733 (GRCm39)	splice site	probably benign
R2000:Itsn2	UTSW	12	4,716,176 (GRCm39)	nonsense	probably null
R2060:Itsn2	UTSW	12	4,677,879 (GRCm39)	missense	probably damaging	1.00
R2119:Itsn2	UTSW	12	4,757,025 (GRCm39)	missense	probably benign	0.32
R2168:Itsn2	UTSW	12	4,683,044 (GRCm39)	unclassified	probably benign
R2394:Itsn2	UTSW	12	4,757,005 (GRCm39)	missense	possibly damaging	0.86
R2860:Itsn2	UTSW	12	4,750,315 (GRCm39)	splice site	probably benign
R2861:Itsn2	UTSW	12	4,750,315 (GRCm39)	splice site	probably benign
R2900:Itsn2	UTSW	12	4,680,713 (GRCm39)	unclassified	probably benign
R2991:Itsn2	UTSW	12	4,708,474 (GRCm39)	missense	probably benign	0.01
R3087:Itsn2	UTSW	12	4,716,303 (GRCm39)	missense	probably damaging	1.00
R3881:Itsn2	UTSW	12	4,684,546 (GRCm39)	unclassified	probably benign
R4022:Itsn2	UTSW	12	4,674,927 (GRCm39)	missense	probably damaging	1.00
R4332:Itsn2	UTSW	12	4,762,611 (GRCm39)	missense	possibly damaging	0.72
R4657:Itsn2	UTSW	12	4,763,197 (GRCm39)	makesense	probably null
R4727:Itsn2	UTSW	12	4,757,660 (GRCm39)	missense	probably damaging	0.99
R4745:Itsn2	UTSW	12	4,711,944 (GRCm39)	missense	probably damaging	1.00
R4770:Itsn2	UTSW	12	4,677,892 (GRCm39)	missense	probably damaging	1.00
R4905:Itsn2	UTSW	12	4,684,583 (GRCm39)	unclassified	probably benign
R5269:Itsn2	UTSW	12	4,683,553 (GRCm39)	unclassified	probably benign
R5314:Itsn2	UTSW	12	4,677,960 (GRCm39)	missense	probably benign	0.09
R5345:Itsn2	UTSW	12	4,722,783 (GRCm39)	missense	probably damaging	1.00
R5399:Itsn2	UTSW	12	4,703,535 (GRCm39)	missense	probably benign	0.22
R5566:Itsn2	UTSW	12	4,676,554 (GRCm39)	missense	probably damaging	1.00
R5725:Itsn2	UTSW	12	4,680,767 (GRCm39)	unclassified	probably benign
R5773:Itsn2	UTSW	12	4,757,089 (GRCm39)	missense	probably damaging	1.00
R6116:Itsn2	UTSW	12	4,679,939 (GRCm39)	unclassified	probably benign
R6254:Itsn2	UTSW	12	4,674,982 (GRCm39)	splice site	probably null
R6325:Itsn2	UTSW	12	4,756,351 (GRCm39)	missense	probably damaging	1.00
R6361:Itsn2	UTSW	12	4,679,655 (GRCm39)	missense	probably benign	0.18
R6494:Itsn2	UTSW	12	4,684,792 (GRCm39)	nonsense	probably null
R6854:Itsn2	UTSW	12	4,702,382 (GRCm39)	missense	probably benign	0.37
R6941:Itsn2	UTSW	12	4,679,641 (GRCm39)	missense	probably benign	0.05
R6961:Itsn2	UTSW	12	4,723,420 (GRCm39)	nonsense	probably null
R7326:Itsn2	UTSW	12	4,682,985 (GRCm39)	missense	unknown
R7387:Itsn2	UTSW	12	4,689,781 (GRCm39)	missense	probably damaging	1.00
R7465:Itsn2	UTSW	12	4,756,983 (GRCm39)	nonsense	probably null
R7471:Itsn2	UTSW	12	4,758,198 (GRCm39)	missense	probably benign	0.43
R7814:Itsn2	UTSW	12	4,708,561 (GRCm39)	missense	probably benign	0.14
R7854:Itsn2	UTSW	12	4,751,276 (GRCm39)	missense	probably damaging	1.00
R7879:Itsn2	UTSW	12	4,751,265 (GRCm39)	missense	probably benign	0.16
R7990:Itsn2	UTSW	12	4,685,629 (GRCm39)	missense	unknown
R8009:Itsn2	UTSW	12	4,714,553 (GRCm39)	missense	probably benign	0.12
R8115:Itsn2	UTSW	12	4,723,602 (GRCm39)	missense	possibly damaging	0.90
R8143:Itsn2	UTSW	12	4,683,003 (GRCm39)	missense	unknown
R8248:Itsn2	UTSW	12	4,712,052 (GRCm39)	missense	probably benign	0.00
R8735:Itsn2	UTSW	12	4,721,474 (GRCm39)	missense	probably damaging	1.00
R8748:Itsn2	UTSW	12	4,751,337 (GRCm39)	missense	probably benign	0.36
R9018:Itsn2	UTSW	12	4,708,091 (GRCm39)	missense	possibly damaging	0.57
R9386:Itsn2	UTSW	12	4,679,730 (GRCm39)	missense	unknown
R9681:Itsn2	UTSW	12	4,683,499 (GRCm39)	missense	unknown
Z1088:Itsn2	UTSW	12	4,762,472 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGCCAGTCTCATTCAGC -3'
(R):5'- CTGGCCAGGGAATTTATAGATGAC -3'

Sequencing Primer
(F):5'- GCCAGTCTCATTCAGCCTTTATC -3'
(R):5'- GTCTAGTCTACAGAGCAAGTTCTAGG -3'

Posted On

2018-06-06