Mutagenetix > Incidental Mutation

Incidental Mutation 'R8047:Ston2'

618827

Institutional Source

Beutler Lab

Gene Symbol

Ston2

Ensembl Gene

ENSMUSG00000020961

Gene Name

stonin 2

Synonyms

4933401N24Rik

MMRRC Submission

067484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R8047 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91599686-91753237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91608617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 828 (V828I)

Ref Sequence

ENSEMBL: ENSMUSP00000053908 (fasta)

Gene Model

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

AlphaFold

Q8BZ60

Predicted Effect

probably damaging
Transcript: ENSMUST00000052969
AA Change: V828I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: V828I

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: V828I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: V828I

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,427,817 (GRCm39)	T157I	possibly damaging	Het
Cd200l2	T	C	16: 45,340,829 (GRCm39)	I245V	probably benign	Het
Cdh22	G	A	2: 165,012,687 (GRCm39)	R133W	probably damaging	Het
Cep152	A	T	2: 125,406,247 (GRCm39)	N1428K	probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Coch	G	A	12: 51,650,496 (GRCm39)		probably null	Het
D6Ertd527e	G	T	6: 87,088,454 (GRCm39)	V206F	unknown	Het
Dnaaf9	A	T	2: 130,617,019 (GRCm39)	V439E	probably damaging	Het
Dock3	T	C	9: 106,870,208 (GRCm39)	I625M	possibly damaging	Het
Dpy19l4	A	G	4: 11,317,139 (GRCm39)	S20P	probably benign	Het
Eef1e1	T	C	13: 38,830,222 (GRCm39)	Q150R	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Engase	T	C	11: 118,377,282 (GRCm39)	S526P	probably benign	Het
Fbxo40	T	A	16: 36,790,231 (GRCm39)	D293V	probably damaging	Het
Gipc3	T	A	10: 81,177,132 (GRCm39)	N146I	probably damaging	Het
Gm11569	T	C	11: 99,689,616 (GRCm39)	T28A	unknown	Het
Gm43302	T	C	5: 105,422,623 (GRCm39)	I470V	possibly damaging	Het
Gpihbp1	A	G	15: 75,469,627 (GRCm39)	Q114R	possibly damaging	Het
Grhl2	T	A	15: 37,336,465 (GRCm39)	M454K	probably benign	Het
Gsap	A	T	5: 21,462,866 (GRCm39)		probably null	Het
Ighv6-5	T	C	12: 114,380,191 (GRCm39)		probably null	Het
Kif1b	C	A	4: 149,299,379 (GRCm39)	V1010L	probably damaging	Het
Krt8	A	T	15: 101,912,406 (GRCm39)	I90N	probably damaging	Het
Lrrc69	A	T	4: 14,773,726 (GRCm39)	I110N	probably benign	Het
Lta	T	C	17: 35,423,011 (GRCm39)	Y104C	probably damaging	Het
Madd	A	G	2: 91,009,546 (GRCm39)	Y13H	probably damaging	Het
Mccc2	C	T	13: 100,091,181 (GRCm39)	V439I	probably benign	Het
Mecom	T	A	3: 30,292,404 (GRCm39)	D35V		Het
Msra	C	T	14: 64,522,612 (GRCm39)	A76T	probably damaging	Het
Myo18b	G	T	5: 112,871,681 (GRCm39)	D2133E	possibly damaging	Het
Ncapd2	C	T	6: 125,166,762 (GRCm39)	V31M	probably damaging	Het
Npc1	A	G	18: 12,346,374 (GRCm39)	V274A	probably benign	Het
Or5m11b	T	C	2: 85,806,271 (GRCm39)	I228T	possibly damaging	Het
Patz1	C	T	11: 3,256,283 (GRCm39)	P523L	probably benign	Het
Pbx2	T	C	17: 34,814,262 (GRCm39)	S350P	probably benign	Het
Plk4	T	C	3: 40,760,187 (GRCm39)	I361T	probably benign	Het
Ppat	G	T	5: 77,073,557 (GRCm39)	N122K	probably damaging	Het
Prss23	T	A	7: 89,159,136 (GRCm39)	Q311L	probably damaging	Het
Psg26	G	T	7: 18,212,474 (GRCm39)	Q294K	possibly damaging	Het
Rab3il1	G	T	19: 10,011,166 (GRCm39)	R285L	probably benign	Het
Radil	A	G	5: 142,480,695 (GRCm39)	C587R	probably damaging	Het
Rd3	A	T	1: 191,709,620 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,927,221 (GRCm39)	L504P	probably damaging	Het
Rmc1	C	T	18: 12,313,586 (GRCm39)	T233M	possibly damaging	Het
Selenov	A	C	7: 27,990,108 (GRCm39)	L132R	probably benign	Het
Spag16	A	T	1: 69,882,155 (GRCm39)	D49V	probably damaging	Het
Tiam1	A	G	16: 89,694,672 (GRCm39)	S262P	probably benign	Het
Tlnrd1	A	T	7: 83,532,069 (GRCm39)	S121T	probably damaging	Het
Unc13c	T	A	9: 73,719,636 (GRCm39)	K1011*	probably null	Het
Vmn2r89	T	A	14: 51,692,549 (GRCm39)	D117E	probably benign	Het
Zbtb7c	A	C	18: 76,270,221 (GRCm39)	N103T	probably damaging	Het
Zfp764	T	C	7: 127,005,412 (GRCm39)	E75G	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAAATGGGCTTGGACACCTC -3'
(R):5'- CTCTCAGAGCCTGATGTCTG -3'

Sequencing Primer
(F):5'- TTGGACACCTCAGCGGGAAG -3'
(R):5'- TGATTGGACCCTCAGCAAG -3'

Posted On

2020-01-23