Mutagenetix > Incidental Mutation

Incidental Mutation 'R8248:Itsn2'

640389

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

067675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4642792-4763952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4712052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 913 (V913A)

Ref Sequence

ENSEMBL: ENSMUSP00000052758 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062580
AA Change: V913A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: V913A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,556 (GRCm39)	D24G	noncoding transcript	Het
Adam32	A	G	8: 25,391,486 (GRCm39)	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Ahi1	T	A	10: 20,847,991 (GRCm39)	D466E	probably benign	Het
Ahnak	T	A	19: 8,979,310 (GRCm39)	V198E	probably damaging	Het
Ank2	T	A	3: 126,731,434 (GRCm39)	H658L	possibly damaging	Het
Atp8b5	T	A	4: 43,366,072 (GRCm39)	I781N	probably damaging	Het
Bloc1s6	A	T	2: 122,584,565 (GRCm39)	R47*	probably null	Het
Clk2	G	A	3: 89,080,811 (GRCm39)	V266M	probably damaging	Het
Cul9	A	C	17: 46,840,940 (GRCm39)	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,201,555 (GRCm39)		probably benign	Het
Dnajb2	T	G	1: 75,220,226 (GRCm39)	D248E		Het
Dpy19l1	T	C	9: 24,414,191 (GRCm39)	H79R	probably benign	Het
Elmo1	T	C	13: 20,784,371 (GRCm39)	S643P	probably damaging	Het
Evi5	A	G	5: 107,966,753 (GRCm39)		probably null	Het
Fam76b	T	C	9: 13,742,398 (GRCm39)	C110R	probably damaging	Het
Galnt7	T	A	8: 57,991,222 (GRCm39)	K429N	probably benign	Het
Gm10142	T	A	10: 77,551,950 (GRCm39)	C104S	probably damaging	Het
Gm7298	A	C	6: 121,764,402 (GRCm39)	H1427P	probably benign	Het
Golga7b	A	T	19: 42,255,310 (GRCm39)	I87F	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gpr25	C	A	1: 136,188,415 (GRCm39)	R66L	probably benign	Het
H2-Q2	A	G	17: 35,563,841 (GRCm39)	N241D	probably benign	Het
Il1a	T	C	2: 129,144,881 (GRCm39)	D179G	probably benign	Het
Itch	T	C	2: 155,048,303 (GRCm39)		probably null	Het
Kdm1b	T	A	13: 47,225,354 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,937,375 (GRCm39)	I655T	possibly damaging	Het
Lats1	T	A	10: 7,581,667 (GRCm39)	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,755,733 (GRCm39)	M503L	probably benign	Het
Mast4	T	C	13: 102,875,229 (GRCm39)	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,336,976 (GRCm39)	T16K	possibly damaging	Het
Mroh2b	C	T	15: 4,960,586 (GRCm39)	T773I	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nudt7	A	G	8: 114,878,737 (GRCm39)	Y255C	probably benign	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,406,942 (GRCm39)	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,844,932 (GRCm39)	L24R	possibly damaging	Het
Pram1	T	C	17: 33,860,138 (GRCm39)	V235A	probably benign	Het
Prg4	T	C	1: 150,330,877 (GRCm39)	T599A	unknown	Het
Prpf40b	A	G	15: 99,214,166 (GRCm39)	K812E	unknown	Het
Qars1	G	A	9: 108,386,651 (GRCm39)	A155T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgs6	A	G	12: 83,184,478 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,906,045 (GRCm39)	R165W	probably damaging	Het
Rps6kb2	T	A	19: 4,206,987 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,768,546 (GRCm39)	W2808R	probably damaging	Het
Sh3gl1	A	G	17: 56,326,038 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,347,563 (GRCm39)	M279K	probably benign	Het
Snx11	A	G	11: 96,660,759 (GRCm39)	S184P	unknown	Het
Srgap1	A	G	10: 121,640,722 (GRCm39)	C692R	probably damaging	Het
Srgap3	T	C	6: 112,700,104 (GRCm39)	N982S	probably damaging	Het
Stac	T	A	9: 111,422,813 (GRCm39)	D270V	probably benign	Het
Syn3	T	A	10: 85,970,885 (GRCm39)	I246F	probably benign	Het
Tnr	T	C	1: 159,719,663 (GRCm39)	V980A	probably damaging	Het
Usp17le	G	T	7: 104,419,001 (GRCm39)	A47E	possibly damaging	Het
Vmn2r118	T	C	17: 55,917,936 (GRCm39)	N192S	probably benign	Het
Zmym4	C	A	4: 126,799,162 (GRCm39)	V725L	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
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
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'- ACTTTGTATTCTAGGGGCAGGC -3'
(R):5'- TGAGGACTCTCATTGGTCCTATG -3'

Sequencing Primer
(F):5'- GGCTGTAGAAAACCTGAAAGCCC -3'
(R):5'- CTCTCATTGGTCCTATGGTAAAAAG -3'

Posted On

2020-07-28