Mutagenetix > Incidental Mutation

Incidental Mutation 'R4030:Ston2'

313188

Institutional Source

Beutler Lab

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 #

R4030 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91599686-91753237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91615037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 457 (Q457R)

Ref Sequence

ENSEMBL: ENSMUSP00000131098 (fasta)

Gene Model

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

AlphaFold

Q8BZ60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052969
AA Change: Q457R

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: Q457R

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: Q457R

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: Q457R

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

Meta Mutation Damage Score

0.3836

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,668 (GRCm39)	S54P	probably benign	Het
2700062C07Rik	C	T	18: 24,608,715 (GRCm39)	P145L	probably benign	Het
Akap3	A	T	6: 126,841,984 (GRCm39)	D201V	probably damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Bpifb2	T	C	2: 153,733,237 (GRCm39)	S400P	probably benign	Het
Brd7	A	T	8: 89,059,559 (GRCm39)	I617N	probably damaging	Het
Cdhr2	C	A	13: 54,865,674 (GRCm39)	P224Q	probably damaging	Het
Cdon	A	G	9: 35,403,202 (GRCm39)	N1104S	probably damaging	Het
Ceacam3	T	C	7: 16,892,267 (GRCm39)	Y337H	probably benign	Het
Chrna5	T	C	9: 54,905,370 (GRCm39)	W61R	probably damaging	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cpsf1	G	A	15: 76,485,979 (GRCm39)	T397M	possibly damaging	Het
Crhr2	T	C	6: 55,094,662 (GRCm39)	D32G	probably benign	Het
Dip2b	A	G	15: 100,084,053 (GRCm39)	Y892C	probably damaging	Het
Dpyd	A	G	3: 118,690,815 (GRCm39)	D308G	probably benign	Het
Dsp	A	G	13: 38,375,404 (GRCm39)	N1063S	possibly damaging	Het
E030030I06Rik	C	A	10: 22,024,899 (GRCm39)	G5C	unknown	Het
Ehbp1	T	C	11: 22,235,498 (GRCm39)	T32A	probably damaging	Het
Fbxo9	C	A	9: 78,005,623 (GRCm39)		probably null	Het
Gpatch3	G	A	4: 133,305,458 (GRCm39)	R231H	possibly damaging	Het
Gpr68	A	G	12: 100,845,475 (GRCm39)	L23P	probably damaging	Het
H2-Q6	C	A	17: 35,644,792 (GRCm39)	Q194K	probably benign	Het
Hmgb1	A	G	5: 148,987,510 (GRCm39)	M13T	probably benign	Het
Kdm5a	T	A	6: 120,382,074 (GRCm39)	L706*	probably null	Het
Krt12	A	T	11: 99,312,854 (GRCm39)	F63L	unknown	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Lgr4	T	C	2: 109,820,096 (GRCm39)	S102P	probably benign	Het
Loxl4	A	T	19: 42,596,798 (GRCm39)	V71E	probably damaging	Het
Lrrc36	A	C	8: 106,153,439 (GRCm39)	N83T	probably damaging	Het
Med26	G	A	8: 73,250,413 (GRCm39)	R229C	probably damaging	Het
Mgam	G	A	6: 40,731,836 (GRCm39)	R1351Q	probably damaging	Het
Mroh8	T	A	2: 157,055,640 (GRCm39)	D986V	probably damaging	Het
Mrpl49	T	C	19: 6,105,230 (GRCm39)	D77G	probably benign	Het
Mrps30	T	C	13: 118,517,077 (GRCm39)	N381D	probably damaging	Het
Mrtfa	G	A	15: 80,899,985 (GRCm39)	T729I	probably benign	Het
Omd	T	A	13: 49,743,125 (GRCm39)	N58K	probably benign	Het
Oog4	A	T	4: 143,166,770 (GRCm39)	N11K	probably benign	Het
Or4a75	C	A	2: 89,448,207 (GRCm39)	V110F	probably damaging	Het
Plpp5	T	A	8: 26,210,631 (GRCm39)	L74Q	probably damaging	Het
Pramel28	T	A	4: 143,692,354 (GRCm39)	T216S	probably benign	Het
Prex2	T	A	1: 11,278,792 (GRCm39)	Y1374N	probably benign	Het
Rbak	A	T	5: 143,159,724 (GRCm39)	I443K	probably damaging	Het
Rhpn1	A	T	15: 75,582,406 (GRCm39)	S195C	probably damaging	Het
Rnf115	T	A	3: 96,693,299 (GRCm39)	I210N	probably damaging	Het
Rock2	G	A	12: 17,025,480 (GRCm39)	V1234I	probably damaging	Het
Scube2	A	G	7: 109,430,978 (GRCm39)	V407A	probably benign	Het
Serpina3n	G	T	12: 104,377,660 (GRCm39)		probably null	Het
Shisal2a	G	T	4: 108,240,412 (GRCm39)	C43*	probably null	Het
Slco2b1	A	G	7: 99,332,032 (GRCm39)	L283P	probably damaging	Het
Spag1	G	A	15: 36,234,447 (GRCm39)	V736M	probably damaging	Het
Srebf2	T	A	15: 82,062,984 (GRCm39)	C434S	probably damaging	Het
Trhr2	T	C	8: 123,087,438 (GRCm39)	M1V	probably null	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn2r105	T	C	17: 20,429,016 (GRCm39)	R687G	probably damaging	Het
Vmn2r73	T	C	7: 85,521,044 (GRCm39)	Y308C	possibly damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zfyve9	A	G	4: 108,576,898 (GRCm39)	V61A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GTGGTGCCCAGTTTAATTACC -3'
(R):5'- TGATGATCCTGATCCCGTCG -3'

Sequencing Primer
(F):5'- GTGGTGCCCAGTTTAATTACCTGTTC -3'
(R):5'- TGATCCCGTCGGCAATACAG -3'

Posted On

2015-04-30