Mutagenetix > Incidental Mutation

Incidental Mutation 'R6361:Itsn2'

513132

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

MMRRC Submission

044511-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6361 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4642792-4763952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4679655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 155 (M155V)

Ref Sequence

ENSEMBL: ENSMUSP00000151663 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000062580
AA Change: M155V

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: M155V

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: 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
AA Change: M155V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

unknown
Transcript: ENSMUST00000219007
AA Change: M155V

Predicted Effect

unknown
Transcript: ENSMUST00000220311
AA Change: M155V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (43/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap1	C	T	15: 64,221,672 (GRCm39)		probably null	Het
Cabin1	G	A	10: 75,562,699 (GRCm39)	A29V	possibly damaging	Het
Cadps	G	A	14: 12,491,778 (GRCm38)	Q791*	probably null	Het
Cdc14b	T	C	13: 64,364,023 (GRCm39)		probably null	Het
Cep89	C	T	7: 35,097,472 (GRCm39)	P33S	probably damaging	Het
Clec18a	A	G	8: 111,807,661 (GRCm39)		probably benign	Het
Cln5	T	A	14: 103,313,637 (GRCm39)	D296E	probably benign	Het
Col6a4	A	T	9: 105,943,902 (GRCm39)	S1191T	probably benign	Het
Crispld1	A	G	1: 17,832,455 (GRCm39)	I480M	probably damaging	Het
Dhrs7	A	C	12: 72,711,433 (GRCm39)	L32V	probably damaging	Het
Dscam	T	C	16: 96,424,011 (GRCm39)	T1645A	probably benign	Het
Eif2b3	A	G	4: 116,885,622 (GRCm39)	T55A	possibly damaging	Het
Ercc6	T	C	14: 32,239,067 (GRCm39)	Y52H	probably benign	Het
Fam170b	C	A	14: 32,558,028 (GRCm39)	Q288K	unknown	Het
Flt4	A	G	11: 49,521,405 (GRCm39)	T442A	probably benign	Het
Gm19402	A	T	10: 77,525,895 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,403,832 (GRCm39)	I87T	probably damaging	Het
Hspb7	A	G	4: 141,149,860 (GRCm39)	E82G	possibly damaging	Het
Itgb3	A	G	11: 104,556,408 (GRCm39)	K750E	possibly damaging	Het
Marchf8	A	T	6: 116,379,062 (GRCm39)	D332V	probably null	Het
Mst1r	A	G	9: 107,793,052 (GRCm39)	M1042V	probably benign	Het
Muc4	T	C	16: 32,587,725 (GRCm39)	F2756L	probably benign	Het
Myl6b	T	A	10: 128,333,078 (GRCm39)	K55*	probably null	Het
Or1j19	A	G	2: 36,676,792 (GRCm39)	N85S	probably damaging	Het
Or4c123	A	T	2: 89,126,990 (GRCm39)	I208N	probably damaging	Het
Or4k51	G	T	2: 111,584,940 (GRCm39)	L115F	probably damaging	Het
Or7g18	T	C	9: 18,787,027 (GRCm39)	Y132H	probably damaging	Het
Or8g50	A	C	9: 39,648,968 (GRCm39)	N286H	probably damaging	Het
Pcca	A	G	14: 122,875,794 (GRCm39)	D141G	probably benign	Het
Pkd2	C	T	5: 104,634,546 (GRCm39)	R526*	probably null	Het
Polr2a	C	A	11: 69,634,163 (GRCm39)	A756S	probably damaging	Het
Prkd2	T	C	7: 16,581,579 (GRCm39)	S145P	probably damaging	Het
Rhbdf1	T	C	11: 32,162,915 (GRCm39)	N451D	possibly damaging	Het
Rundc3a	G	A	11: 102,291,621 (GRCm39)	R358Q	probably damaging	Het
Spata31g1	A	T	4: 42,972,695 (GRCm39)	D676V	probably benign	Het
Spef1l	T	A	7: 139,556,585 (GRCm39)	D134V	possibly damaging	Het
Tbc1d4	T	C	14: 101,744,610 (GRCm39)	K339E	probably damaging	Het
Usp37	A	G	1: 74,493,052 (GRCm39)	I723T	probably benign	Het
Vwa2	A	T	19: 56,889,958 (GRCm39)		probably null	Het
Zdbf2	A	C	1: 63,342,480 (GRCm39)	R286S	possibly damaging	Het
Zfp422	G	A	6: 116,603,781 (GRCm39)	H73Y	probably damaging	Het
Zfp868	T	C	8: 70,064,564 (GRCm39)	H257R	probably damaging	Het
Zzef1	A	G	11: 72,775,175 (GRCm39)	S1723G	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
R6456:Itsn2	UTSW	12	4,679,923 (GRCm39)	unclassified	probably benign
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'- ATCACTTCAGATGCAGGGCTG -3'
(R):5'- TTCCACAAAGAAGGAACTCTGTG -3'

Sequencing Primer
(F):5'- AATTTTGCAAAATTGAGGGTGC -3'
(R):5'- TGTGAACAACAAACCACAGTTTCTTC -3'

Posted On

2018-04-27