Mutagenetix > Incidental Mutation

Incidental Mutation 'R6116:Itsn2'

485133

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

044265-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6116 (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 C at 4679939 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: S211P

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: S211P

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: S211P

Predicted Effect

unknown
Transcript: ENSMUST00000219007
AA Change: S211P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,990,327 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,449,508 (GRCm39)	I2101F	probably damaging	Het
Bpifa3	G	A	2: 153,975,633 (GRCm39)	V68I	possibly damaging	Het
Csmd1	T	A	8: 16,261,864 (GRCm39)	I878F	probably damaging	Het
Cyp2c67	A	T	19: 39,605,879 (GRCm39)	M339K	probably damaging	Het
Dock3	A	G	9: 106,809,161 (GRCm39)	Y1321H	probably damaging	Het
Dsc1	G	T	18: 20,230,356 (GRCm39)	D316E	probably benign	Het
Eno3	C	T	11: 70,552,401 (GRCm39)	T351M	possibly damaging	Het
Erbb2	T	A	11: 98,318,225 (GRCm39)	F487Y	probably damaging	Het
Exosc10	T	C	4: 148,657,810 (GRCm39)	L652P	probably benign	Het
Glmn	A	T	5: 107,705,206 (GRCm39)	M470K	probably damaging	Het
Gm15446	T	A	5: 110,090,902 (GRCm39)	C385S	probably damaging	Het
Hspa8	A	G	9: 40,716,271 (GRCm39)	E581G	probably damaging	Het
Igfn1	T	C	1: 135,898,205 (GRCm39)	D787G	probably benign	Het
Igkv12-44	T	C	6: 69,791,838 (GRCm39)	T42A	possibly damaging	Het
Jade2	T	C	11: 51,726,460 (GRCm39)	E84G	probably damaging	Het
Lpar3	T	A	3: 145,946,352 (GRCm39)	M10K	possibly damaging	Het
Lpin2	A	G	17: 71,550,925 (GRCm39)	D695G	probably damaging	Het
Mosmo	T	A	7: 120,325,418 (GRCm39)	L7H	probably damaging	Het
Ms4a8a	C	T	19: 11,058,436 (GRCm39)	A9T	unknown	Het
Myb	T	C	10: 21,030,653 (GRCm39)	D48G	probably damaging	Het
Neurod6	T	C	6: 55,655,776 (GRCm39)	Y287C	probably damaging	Het
Olr1	T	A	6: 129,476,947 (GRCm39)	D106V	probably damaging	Het
Or11a4	A	G	17: 37,536,459 (GRCm39)	T148A	probably benign	Het
Or8b4	A	G	9: 37,829,955 (GRCm39)	M1V	probably null	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Ppfia3	T	C	7: 45,004,127 (GRCm39)	Y505C	probably damaging	Het
Sdk2	T	A	11: 113,745,190 (GRCm39)	I702F	probably damaging	Het
Slc16a11	T	C	11: 70,106,262 (GRCm39)	F119L	probably benign	Het
Slc2a10	A	C	2: 165,359,623 (GRCm39)	T496P	probably damaging	Het
Slc7a2	T	C	8: 41,353,206 (GRCm39)	Y181H	probably damaging	Het
Spata31e5	G	A	1: 28,817,780 (GRCm39)	A84V	probably benign	Het
Stab2	G	T	10: 86,743,054 (GRCm39)	P1185Q	probably damaging	Het
Tcf7l2	T	A	19: 55,907,446 (GRCm39)	S335R	probably damaging	Het
Ttc41	G	A	10: 86,594,952 (GRCm39)		probably null	Het
Vmn2r32	A	T	7: 7,467,092 (GRCm39)	I812N	probably damaging	Het
Wdr24	C	T	17: 26,043,579 (GRCm39)	H134Y	probably benign	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
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
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'- ACTGCCAGTCTCATTCAGCC -3'
(R):5'- CTGGCCAGGGAATTTATAGATGAC -3'

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

Posted On

2017-08-16