Mutagenetix > Incidental Mutation

Incidental Mutation 'R8748:Itsn2'

663664

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

068591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8748 (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 4751337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1309 (E1309G)

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 benign
Transcript: ENSMUST00000062580
AA Change: E1282G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: E1282G

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: ENSMUST00000219007
AA Change: E1282G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000220311
AA Change: E1309G

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

96% (43/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,836,597 (GRCm39)	F1233I	probably damaging	Het
Acte1	T	C	7: 143,445,556 (GRCm39)	I201T	probably benign	Het
Adgrl2	A	G	3: 148,532,026 (GRCm39)	I87T		Het
Atr	A	G	9: 95,814,476 (GRCm39)	M2058V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bscl2	A	G	19: 8,825,311 (GRCm39)	E365G	probably damaging	Het
Casd1	T	A	6: 4,608,634 (GRCm39)	S77R	probably benign	Het
Ccdc91	T	C	6: 147,464,194 (GRCm39)	I214T	unknown	Het
Chpf2	T	C	5: 24,796,821 (GRCm39)	F589S	probably damaging	Het
Cmya5	T	A	13: 93,226,229 (GRCm39)	Y2953F	probably damaging	Het
Cts8	A	T	13: 61,397,086 (GRCm39)	V278D	probably damaging	Het
Cyp20a1	T	C	1: 60,392,181 (GRCm39)	V79A	probably damaging	Het
Dach1	G	A	14: 98,065,770 (GRCm39)	Q686*	probably null	Het
Daxx	A	G	17: 34,131,138 (GRCm39)	D355G	probably damaging	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Eif4ebp2	A	T	10: 61,270,806 (GRCm39)	H74Q	probably benign	Het
Exoc3l	T	C	8: 106,016,777 (GRCm39)	D679G	probably damaging	Het
Fam13c	T	A	10: 70,378,516 (GRCm39)	W349R	probably damaging	Het
Fat3	A	T	9: 15,834,161 (GRCm39)	Y4144N	possibly damaging	Het
Gm37240	A	G	3: 84,405,045 (GRCm39)	*253Q	probably null	Het
Hycc1	T	A	5: 24,170,320 (GRCm39)	D343V	probably benign	Het
Ildr1	A	C	16: 36,542,734 (GRCm39)	E422A	probably benign	Het
Macf1	T	C	4: 123,368,068 (GRCm39)	D2231G	probably benign	Het
Mtnr1a	T	C	8: 45,538,675 (GRCm39)	S38P	probably benign	Het
Or10d3	C	G	9: 39,461,711 (GRCm39)	G152A	possibly damaging	Het
Or10d3	C	A	9: 39,461,712 (GRCm39)	G152*	probably null	Het
Or10v5	A	G	19: 11,805,596 (GRCm39)	S265P	probably damaging	Het
Or11h6	G	T	14: 50,880,211 (GRCm39)	V152F	probably benign	Het
Pate13	A	C	9: 35,820,351 (GRCm39)	D25A	probably damaging	Het
Pcdhb9	G	A	18: 37,535,901 (GRCm39)	G632S	probably damaging	Het
Pgr	C	A	9: 8,958,449 (GRCm39)	L819I	probably benign	Het
Phrf1	T	C	7: 140,838,148 (GRCm39)	S448P	unknown	Het
Pip5k1a	A	G	3: 94,971,695 (GRCm39)	M471T	probably benign	Het
Postn	A	G	3: 54,296,760 (GRCm39)	D758G	probably damaging	Het
Rbmyf9	T	A	Y: 3,774,915 (GRCm39)		probably null	Het
Rpl3	T	C	15: 79,963,902 (GRCm39)	I280V	probably benign	Het
Rtl1	A	T	12: 109,561,492 (GRCm39)	S116T	probably benign	Het
Six5	A	G	7: 18,829,049 (GRCm39)	H163R	probably benign	Het
Smarca4	A	G	9: 21,546,164 (GRCm39)	D114G	possibly damaging	Het
Tex46	C	T	4: 136,337,808 (GRCm39)		probably benign	Het
Tmem144	A	G	3: 79,743,539 (GRCm39)		probably null	Het
Unc5d	T	C	8: 29,186,453 (GRCm39)	T617A	probably benign	Het
Vmn1r74	T	A	7: 11,580,903 (GRCm39)	S68T	probably benign	Het
Zfp184	G	A	13: 22,144,217 (GRCm39)	R641Q	probably benign	Het
Zfp583	C	T	7: 6,319,419 (GRCm39)	R531H	probably benign	Het
Zfp764	T	C	7: 127,003,862 (GRCm39)	E423G	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
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
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'- ATGGATGTGACTGCCAGTTACTTG -3'
(R):5'- AATCGTGGTCCTCTTGCCAAG -3'

Sequencing Primer
(F):5'- ACTGCCAGTTACTTGCAGGG -3'
(R):5'- TGGTCCTCTTGCCAAGGAAAATAAG -3'

Posted On

2021-03-08