Mutagenetix > Incidental Mutation

Incidental Mutation 'R6494:Itsn2'

522975

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

044626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6494 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4642792-4763952 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 4684792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 448 (R448*)

Ref Sequence

ENSEMBL: ENSMUSP00000151896 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000062580
AA Change: R448*

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: R448*

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 null
Transcript: ENSMUST00000217672
AA Change: R6*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218352

Predicted Effect

probably null
Transcript: ENSMUST00000219007
AA Change: R448*

Predicted Effect

probably null
Transcript: ENSMUST00000220311
AA Change: R448*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

98% (44/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	C	7: 27,315,774 (GRCm39)	L52P	possibly damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chic2	T	C	5: 75,204,943 (GRCm39)	E6G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Col5a2	C	A	1: 45,417,487 (GRCm39)	D1363Y	probably damaging	Het
Csmd1	C	T	8: 16,261,709 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,138,591 (GRCm39)	Y211F	probably damaging	Het
Efcab3	A	T	11: 104,990,845 (GRCm39)	Y5460F	possibly damaging	Het
Efcab6	T	A	15: 83,928,523 (GRCm39)		probably null	Het
Eno4	T	A	19: 58,951,226 (GRCm39)	Y237N	probably damaging	Het
Fer1l4	T	A	2: 155,887,390 (GRCm39)	D602V	probably benign	Het
Fgfr2	T	C	7: 129,800,280 (GRCm39)	N337S	probably damaging	Het
Fras1	C	T	5: 96,907,423 (GRCm39)	R3203C	possibly damaging	Het
Gbp2	T	A	3: 142,337,769 (GRCm39)	V295E	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,765,745 (GRCm39)	I366M	possibly damaging	Het
Klhl35	G	T	7: 99,122,106 (GRCm39)	W69L	probably damaging	Het
Kpnb1	T	C	11: 97,072,474 (GRCm39)	I154V	probably benign	Het
Lax1	T	A	1: 133,608,186 (GRCm39)	Y185F	probably damaging	Het
Mmp12	C	T	9: 7,353,479 (GRCm39)	P208L	probably damaging	Het
Ndufb8	C	T	19: 44,543,744 (GRCm39)	V33M	probably null	Het
Nptn	T	G	9: 58,531,035 (GRCm39)	C169G	probably damaging	Het
Nuggc	A	T	14: 65,885,671 (GRCm39)	E766V	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,139,520 (GRCm39)	N149I	possibly damaging	Het
Or12e14	A	T	2: 87,187,976 (GRCm39)	K63*	probably null	Het
Pcdhga6	T	A	18: 37,841,594 (GRCm39)	I438N	probably damaging	Het
Pkn2	T	C	3: 142,509,429 (GRCm39)	N721S	possibly damaging	Het
Pole	T	C	5: 110,472,588 (GRCm39)	W1590R	possibly damaging	Het
Prph2	A	G	17: 47,222,007 (GRCm39)	T129A	probably benign	Het
Ptpro	A	T	6: 137,359,640 (GRCm39)	K403N	probably benign	Het
Rbck1	T	C	2: 152,172,886 (GRCm39)	D54G	possibly damaging	Het
Serpinb7	T	A	1: 107,363,076 (GRCm39)	L80*	probably null	Het
Setdb2	T	A	14: 59,639,863 (GRCm39)	Y676F	probably benign	Het
Skint1	G	T	4: 111,867,909 (GRCm39)	C12F	probably benign	Het
Slc22a26	T	A	19: 7,779,651 (GRCm39)	D55V	probably damaging	Het
Slc9a8	G	A	2: 167,266,211 (GRCm39)	V63I	probably damaging	Het
Sox2	T	A	3: 34,705,246 (GRCm39)	S228T	probably benign	Het
Spata31g1	A	G	4: 42,971,924 (GRCm39)	N419S	possibly damaging	Het
Spg11	A	G	2: 121,943,706 (GRCm39)	S149P	probably damaging	Het
Tbc1d19	T	A	5: 53,986,725 (GRCm39)	S45T	probably benign	Het
Tsacc	T	C	3: 88,202,703 (GRCm39)	E11G	probably benign	Het
Ttc7b	C	T	12: 100,461,666 (GRCm39)	A104T	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Zfp108	T	A	7: 23,960,782 (GRCm39)	F458I	probably damaging	Het
Zfp616	A	T	11: 73,976,018 (GRCm39)	K762N	probably 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
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'- AGTGTTGATGGAGCAGCAGC -3'
(R):5'- ACTGGGCCTCACTTGCATATG -3'

Sequencing Primer
(F):5'- TTGATGGAGCAGCAGCAGAGG -3'
(R):5'- GGGCCTCACTTGCATATGATACAG -3'

Posted On

2018-06-06