Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01116:Ston2'

52471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ston2

Ensembl Gene

ENSMUSG00000020961

Gene Name

stonin 2

Synonyms

4933401N24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL01116

Quality Score

Status

Chromosome

Chromosomal Location

91599686-91753237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91615522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 295 (N295K)

Ref Sequence

ENSEMBL: ENSMUSP00000131098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052969] [ENSMUST00000164713]

AlphaFold

Q8BZ60

Predicted Effect

probably benign
Transcript: ENSMUST00000052969
AA Change: N295K

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: N295K

Domain	Start	End	E-Value	Type
Pfam:Stonin2_N	1	337	3e-228	PFAM
Pfam:Adap_comp_sub	554	873	7.3e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164713
AA Change: N295K

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: N295K

Domain	Start	End	E-Value	Type
Pfam:Stonin2_N	1	337	1.3e-181	PFAM
Pfam:Adap_comp_sub	554	872	1.9e-65	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit compromised endocytic synaptic vesicle sorting fidelity, hyperactivity and abnormal response to novel object. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,849,911 (GRCm39)	M951L	probably benign	Het
Als2	T	C	1: 59,225,163 (GRCm39)		probably benign	Het
Arhgap26	T	C	18: 39,244,856 (GRCm39)	V167A	probably damaging	Het
Bbs1	A	G	19: 4,952,867 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,949,806 (GRCm39)		probably benign	Het
Cenpl	G	T	1: 160,910,857 (GRCm39)	S268I	possibly damaging	Het
Coq8b	T	C	7: 26,939,282 (GRCm39)	V144A	possibly damaging	Het
Exo1	T	A	1: 175,728,963 (GRCm39)	C10S	possibly damaging	Het
Fam193b	A	T	13: 55,691,266 (GRCm39)	S203T	probably damaging	Het
Ggact	T	C	14: 123,129,167 (GRCm39)	N16S	probably damaging	Het
Gm3940	A	T	1: 52,129,882 (GRCm39)		probably benign	Het
Gm5458	G	T	14: 19,649,760 (GRCm39)	L155I	probably damaging	Het
Golm1	T	C	13: 59,797,470 (GRCm39)	K125R	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria1	A	G	11: 57,127,801 (GRCm39)	N337D	probably damaging	Het
Gripap1	G	A	X: 7,678,705 (GRCm39)	G464D	probably benign	Het
Grk1	A	G	8: 13,455,404 (GRCm39)	D96G	possibly damaging	Het
Hsf1	T	C	15: 76,382,403 (GRCm39)	V258A	probably benign	Het
Ighv7-4	A	G	12: 114,186,653 (GRCm39)	S40P	probably damaging	Het
Igkv4-50	G	A	6: 69,677,921 (GRCm39)	S61L	probably benign	Het
Igkv4-62	C	T	6: 69,377,035 (GRCm39)	G38E	probably damaging	Het
Ints1	T	C	5: 139,757,437 (GRCm39)	D358G	probably damaging	Het
Madd	A	G	2: 90,984,888 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,974,439 (GRCm39)	S580G	probably damaging	Het
Myef2	A	G	2: 124,940,402 (GRCm39)	M383T	probably damaging	Het
Myo3b	T	C	2: 70,119,730 (GRCm39)	L930P	probably damaging	Het
Ndufaf3	C	T	9: 108,444,068 (GRCm39)	R20Q	probably benign	Het
Npr2	T	C	4: 43,640,248 (GRCm39)	S328P	probably damaging	Het
Or1r1	A	T	11: 73,875,144 (GRCm39)	C97S	probably damaging	Het
Or4k15b	T	A	14: 50,272,507 (GRCm39)	M118L	probably benign	Het
Pdpr	T	C	8: 111,839,342 (GRCm39)	I155T	possibly damaging	Het
Phf11b	A	T	14: 59,560,631 (GRCm39)	I216K	probably benign	Het
Phkg1	T	C	5: 129,893,813 (GRCm39)		probably null	Het
Pik3r6	A	G	11: 68,422,276 (GRCm39)	Y225C	probably benign	Het
Plekhh2	A	T	17: 84,914,356 (GRCm39)	D1253V	possibly damaging	Het
Plppr3	T	C	10: 79,702,757 (GRCm39)	T155A	probably damaging	Het
Ppp6r2	T	C	15: 89,166,192 (GRCm39)	F732S	probably damaging	Het
Ryr1	A	G	7: 28,799,627 (GRCm39)		probably benign	Het
Slc16a8	T	G	15: 79,135,432 (GRCm39)	S459R	probably damaging	Het
Slc25a12	A	T	2: 71,123,696 (GRCm39)		probably benign	Het
Slc38a2	T	C	15: 96,591,066 (GRCm39)		probably benign	Het
Slit1	C	A	19: 41,594,824 (GRCm39)	W1182L	possibly damaging	Het
Snx2	C	T	18: 53,327,495 (GRCm39)		probably benign	Het
Sos1	A	T	17: 80,752,929 (GRCm39)	V335D	probably damaging	Het
St18	A	G	1: 6,872,856 (GRCm39)	D197G	probably damaging	Het
Stpg3	A	G	2: 25,103,191 (GRCm39)		probably benign	Het
Tmem63a	A	G	1: 180,799,654 (GRCm39)	I675V	probably damaging	Het
Vmn2r16	T	A	5: 109,488,294 (GRCm39)	L389Q	probably damaging	Het
Vps13d	C	A	4: 144,699,320 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,934 (GRCm39)	D3012E	probably damaging	Het

Other mutations in Ston2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02102:Ston2	APN	12	91,606,498 (GRCm39)	makesense	probably null
IGL03177:Ston2	APN	12	91,614,431 (GRCm39)	missense	probably damaging	1.00
IGL03233:Ston2	APN	12	91,614,627 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Ston2	UTSW	12	91,615,276 (GRCm39)	missense	possibly damaging	0.90
R0158:Ston2	UTSW	12	91,707,376 (GRCm39)	missense	probably damaging	1.00
R0365:Ston2	UTSW	12	91,614,634 (GRCm39)	missense	probably benign	0.00
R0671:Ston2	UTSW	12	91,707,240 (GRCm39)	splice site	probably null
R1005:Ston2	UTSW	12	91,615,622 (GRCm39)	missense	possibly damaging	0.56
R1381:Ston2	UTSW	12	91,707,266 (GRCm39)	missense	probably damaging	0.97
R1507:Ston2	UTSW	12	91,608,454 (GRCm39)	missense	probably benign	0.02
R1737:Ston2	UTSW	12	91,614,681 (GRCm39)	missense	probably damaging	1.00
R4029:Ston2	UTSW	12	91,615,037 (GRCm39)	missense	possibly damaging	0.59
R4030:Ston2	UTSW	12	91,615,037 (GRCm39)	missense	possibly damaging	0.59
R4552:Ston2	UTSW	12	91,608,646 (GRCm39)	missense	probably damaging	1.00
R4569:Ston2	UTSW	12	91,606,496 (GRCm39)	makesense	probably null
R4864:Ston2	UTSW	12	91,615,448 (GRCm39)	missense	possibly damaging	0.91
R6278:Ston2	UTSW	12	91,615,104 (GRCm39)	missense	probably damaging	1.00
R6637:Ston2	UTSW	12	91,680,886 (GRCm39)	missense	probably damaging	0.97
R6679:Ston2	UTSW	12	91,614,870 (GRCm39)	missense	probably damaging	1.00
R7142:Ston2	UTSW	12	91,614,009 (GRCm39)	missense	probably damaging	1.00
R8047:Ston2	UTSW	12	91,608,617 (GRCm39)	missense	probably damaging	1.00
R8093:Ston2	UTSW	12	91,710,460 (GRCm39)	missense	probably damaging	0.97
R8259:Ston2	UTSW	12	91,608,454 (GRCm39)	missense	probably benign	0.02
R8349:Ston2	UTSW	12	91,608,649 (GRCm39)	missense	probably damaging	1.00
R8431:Ston2	UTSW	12	91,615,071 (GRCm39)	missense	probably damaging	1.00
R8449:Ston2	UTSW	12	91,608,649 (GRCm39)	missense	probably damaging	1.00
R8490:Ston2	UTSW	12	91,614,905 (GRCm39)	missense	possibly damaging	0.48
R8885:Ston2	UTSW	12	91,606,498 (GRCm39)	makesense	probably null
R9238:Ston2	UTSW	12	91,615,461 (GRCm39)	missense	probably benign	0.01
R9502:Ston2	UTSW	12	91,707,424 (GRCm39)	missense	possibly damaging	0.79
X0064:Ston2	UTSW	12	91,615,679 (GRCm39)	missense	possibly damaging	0.95
Z1088:Ston2	UTSW	12	91,615,841 (GRCm39)	missense	possibly damaging	0.93
Z1177:Ston2	UTSW	12	91,707,404 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-06-21