Mutagenetix > Incidental Mutation

Incidental Mutation 'R8093:Ston2'

630012

Institutional Source

Beutler Lab

Gene Symbol

Ston2

Ensembl Gene

ENSMUSG00000020961

Gene Name

stonin 2

Synonyms

4933401N24Rik

MMRRC Submission

067525-MU

Accession Numbers

Essential gene?

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

Stock #

R8093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91599686-91753237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91710460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 3 (T3I)

Ref Sequence

ENSEMBL: ENSMUSP00000053908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052969] [ENSMUST00000164713] [ENSMUST00000166967] [ENSMUST00000170077]

AlphaFold

Q8BZ60

Predicted Effect

probably damaging
Transcript: ENSMUST00000052969
AA Change: T3I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: T3I

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

probably damaging
Transcript: ENSMUST00000164713
AA Change: T3I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: T3I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166967
AA Change: T3I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000170077
AA Change: T3I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126429
Gene: ENSMUSG00000020961
AA Change: T3I

Domain	Start	End	E-Value	Type
Pfam:Stonin2_N	1	135	2.2e-90	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,669,368 (GRCm39)	T745S	possibly damaging	Het
Abca12	T	C	1: 71,319,552 (GRCm39)	I1777V	probably benign	Het
Abhd6	T	C	14: 8,028,353 (GRCm38)	L28P	probably damaging	Het
Angpt1	T	A	15: 42,339,873 (GRCm39)	E279D	probably benign	Het
Arfgef2	A	G	2: 166,736,577 (GRCm39)	M1750V	probably benign	Het
Atrn	T	C	2: 130,817,908 (GRCm39)	F821L	probably benign	Het
Cbx3	A	G	6: 51,458,748 (GRCm39)	E71G	possibly damaging	Het
Ccdc14	G	A	16: 34,530,022 (GRCm39)	A482T	probably damaging	Het
Cdh15	G	T	8: 123,593,574 (GRCm39)	A723S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,054 (GRCm39)	S488G	probably damaging	Het
Ddx55	C	A	5: 124,694,883 (GRCm39)	H104N	possibly damaging	Het
Det1	G	T	7: 78,493,257 (GRCm39)	T249N	possibly damaging	Het
Disp3	A	G	4: 148,354,973 (GRCm39)	S348P	possibly damaging	Het
Dnah6	T	G	6: 73,137,896 (GRCm39)	N936T	probably damaging	Het
Dnajc11	A	T	4: 152,054,357 (GRCm39)	N188Y	probably damaging	Het
Etaa1	G	A	11: 17,897,559 (GRCm39)	T186I	possibly damaging	Het
Fhip1a	T	C	3: 85,580,111 (GRCm39)	D698G	probably benign	Het
Ftl1-ps1	T	A	13: 74,555,138 (GRCm39)	V139E	probably benign	Het
Fzd10	A	G	5: 128,679,303 (GRCm39)	K341R	probably benign	Het
Galnt7	A	G	8: 57,985,739 (GRCm39)	Y544H	probably benign	Het
Gm21190	T	A	5: 15,730,814 (GRCm39)	I181F	possibly damaging	Het
Gm3604	T	C	13: 62,517,363 (GRCm39)	N332D	probably damaging	Het
Gm47996	G	T	1: 151,086,055 (GRCm39)	E45D	possibly damaging	Het
Gm5475	T	A	15: 100,321,893 (GRCm39)	L14Q	unknown	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr182	T	C	10: 127,586,783 (GRCm39)	Y56C	probably damaging	Het
Gxylt2	T	A	6: 100,710,188 (GRCm39)	W110R	probably damaging	Het
Hivep3	G	T	4: 119,952,632 (GRCm39)	R316L	possibly damaging	Het
Hnf1a	T	C	5: 115,093,336 (GRCm39)	T310A	probably benign	Het
Igkv6-32	A	G	6: 70,051,547 (GRCm39)	F8L	probably benign	Het
Kcnq1	A	G	7: 142,916,389 (GRCm39)	N550D	probably damaging	Het
Lrrc40	T	G	3: 157,757,419 (GRCm39)	Y249*	probably null	Het
Lrrc43	T	A	5: 123,639,192 (GRCm39)	M407K	probably benign	Het
Map2k6	A	C	11: 110,373,411 (GRCm39)	E21D	probably benign	Het
Mcoln1	T	A	8: 3,558,740 (GRCm39)	I246N	possibly damaging	Het
Msantd5f6	A	T	4: 73,321,759 (GRCm39)	V92E	probably damaging	Het
Myh2	A	G	11: 67,079,536 (GRCm39)	K998E	probably damaging	Het
Myo1b	C	T	1: 51,797,034 (GRCm39)		probably null	Het
Numbl	T	A	7: 26,980,461 (GRCm39)	M481K	possibly damaging	Het
Nxpe4	G	T	9: 48,307,852 (GRCm39)	V319F	probably benign	Het
Pam	C	A	1: 97,813,357 (GRCm39)	D358Y	probably damaging	Het
Papola	A	G	12: 105,775,836 (GRCm39)	M251V	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Prelid2	A	G	18: 42,065,700 (GRCm39)	S112P	probably damaging	Het
Ptgfrn	T	C	3: 100,963,753 (GRCm39)	T620A	probably benign	Het
Ptgfrn	C	T	3: 100,980,257 (GRCm39)	R361Q	probably benign	Het
Pygm	T	A	19: 6,436,072 (GRCm39)	M148K	probably damaging	Het
Ren1	T	A	1: 133,287,812 (GRCm39)	I382N	probably damaging	Het
Rev1	T	C	1: 38,114,097 (GRCm39)		probably benign	Het
Sdsl	T	C	5: 120,598,017 (GRCm39)	K159E	probably benign	Het
Serinc4	T	C	2: 121,285,434 (GRCm39)	N203S	possibly damaging	Het
Slc12a2	A	G	18: 58,012,423 (GRCm39)	H182R	probably benign	Het
Sned1	C	A	1: 93,202,387 (GRCm39)	T677K	possibly damaging	Het
Tnf	T	C	17: 35,420,072 (GRCm39)	T77A	probably benign	Het
Trav6-2	G	A	14: 52,905,126 (GRCm39)	G49E	probably benign	Het
Trav7-4	A	T	14: 53,699,140 (GRCm39)	I96F	probably damaging	Het
Trmu	T	A	15: 85,766,921 (GRCm39)	D43E	probably benign	Het
Uggt1	T	A	1: 36,266,566 (GRCm39)	Q136L	probably damaging	Het
Ugt1a5	T	A	1: 88,094,304 (GRCm39)	Y177*	probably null	Het
Vmn1r126	T	C	7: 21,034,516 (GRCm39)	R293G	probably damaging	Het
Vmn2r89	A	G	14: 51,693,699 (GRCm39)	I350V	probably benign	Het
Vps11	A	T	9: 44,267,529 (GRCm39)	L361Q	probably damaging	Het
Zfp467	A	G	6: 48,420,366 (GRCm39)	L5P	possibly damaging	Het
Zfp652	A	G	11: 95,640,288 (GRCm39)	H71R	probably damaging	Het
Zfp804b	T	C	5: 6,820,082 (GRCm39)	K994E	probably benign	Het

Other mutations in Ston2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Ston2	APN	12	91,615,522 (GRCm39)	missense	possibly damaging	0.67
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAATGGCTGGTGGGAATG -3'
(R):5'- CGACAAGGAAGACTGGCCTTAC -3'

Sequencing Primer
(F):5'- TCCTTGGAAGAATAAAACATGTGCCC -3'
(R):5'- AAGACTGGCCTTACCTCCG -3'

Posted On

2020-06-30