Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Ston2'

163045

Institutional Source

Beutler Lab

Gene Symbol

Ston2

Ensembl Gene

ENSMUSG00000020961

Gene Name

stonin 2

Synonyms

4933401N24Rik

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

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

Stock #

R1381 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

91599686-91753237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91707266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 115 (S115T)

Ref Sequence

ENSEMBL: ENSMUSP00000126429 (fasta)

Gene Model

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

AlphaFold

Q8BZ60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052969
AA Change: S115T

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: S115T

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: S115T

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: S115T

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 benign
Transcript: ENSMUST00000166967

Predicted Effect

probably damaging
Transcript: ENSMUST00000170077
AA Change: S115T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126429
Gene: ENSMUSG00000020961
AA Change: S115T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170984

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,561,430 (GRCm39)	F252L	probably benign	Het
Aadac	A	T	3: 59,947,351 (GRCm39)	M350L	probably damaging	Het
Agtrap	G	A	4: 148,168,422 (GRCm39)	T19I	probably damaging	Het
Apba3	C	T	10: 81,107,590 (GRCm39)	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,347,412 (GRCm39)	K133I	probably damaging	Het
Cep295	A	C	9: 15,233,861 (GRCm39)	C2312G	probably benign	Het
Ces1a	A	G	8: 93,760,659 (GRCm39)	V231A	probably damaging	Het
Chdh	C	A	14: 29,758,791 (GRCm39)	L579I	probably damaging	Het
Cyb5r4	T	A	9: 86,904,286 (GRCm39)	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,256,709 (GRCm39)	R355L	probably benign	Het
Dach2	T	C	X: 112,208,472 (GRCm39)	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,692,769 (GRCm39)	R93K	probably benign	Het
Dph2	G	T	4: 117,746,865 (GRCm39)	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,812,099 (GRCm39)	D634G	probably benign	Het
Fam217b	G	A	2: 178,062,218 (GRCm39)	V61I	probably benign	Het
Fbln7	A	C	2: 128,719,299 (GRCm39)	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,490,239 (GRCm39)	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,223,528 (GRCm39)	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,765 (GRCm39)	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420 (GRCm39)	G152D	probably damaging	Het
Galntl6	G	T	8: 58,925,989 (GRCm39)	P92Q	probably damaging	Het
Gm5592	A	T	7: 40,935,596 (GRCm39)	T33S	probably benign	Het
Grid2ip	A	T	5: 143,348,406 (GRCm39)	T166S	probably benign	Het
Grsf1	G	A	5: 88,813,723 (GRCm39)	S225L	probably benign	Het
Hadha	G	T	5: 30,333,834 (GRCm39)	T395K	probably benign	Het
Hars2	C	T	18: 36,922,270 (GRCm39)	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,528,995 (GRCm39)	S577T	probably benign	Het
Ice2	A	G	9: 69,307,809 (GRCm39)	Y31C	probably damaging	Het
Ift80	A	T	3: 68,822,116 (GRCm39)	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Ilvbl	C	A	10: 78,412,430 (GRCm39)	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942 (GRCm39)	S858*	probably null	Het
Ipo13	T	G	4: 117,761,592 (GRCm39)	T508P	probably damaging	Het
Itgb4	T	C	11: 115,885,163 (GRCm39)	I1015T	probably benign	Het
Kank4	A	T	4: 98,668,175 (GRCm39)	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,760,063 (GRCm39)	A906T	probably benign	Het
Klk4	G	A	7: 43,534,706 (GRCm39)	V222M	probably damaging	Het
Lipo4	T	A	19: 33,476,741 (GRCm39)	M336L	probably benign	Het
Lrig1	T	C	6: 94,583,111 (GRCm39)	N1002D	probably benign	Het
Lzts3	A	G	2: 130,477,219 (GRCm39)	S524P	probably damaging	Het
Maz	A	T	7: 126,622,324 (GRCm39)	C409*	probably null	Het
Mmp24	A	T	2: 155,656,047 (GRCm39)	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 46,885,050 (GRCm39)	V206I	possibly damaging	Het
Myof	A	G	19: 37,983,933 (GRCm39)	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,551,517 (GRCm39)	V1030D	probably damaging	Het
Neb	T	A	2: 52,150,544 (GRCm39)	I2495F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nup153	T	C	13: 46,842,657 (GRCm39)	D837G	probably damaging	Het
Nup210	C	A	6: 91,052,942 (GRCm39)	G331V	probably damaging	Het
Or5b97	T	C	19: 12,878,320 (GRCm39)	T275A	probably benign	Het
Or5w18	T	C	2: 87,633,480 (GRCm39)	L245P	probably damaging	Het
Or6z7	A	G	7: 6,484,008 (GRCm39)		probably null	Het
Or8b56	T	A	9: 38,739,634 (GRCm39)	S210T	probably benign	Het
Pabpc4	T	A	4: 123,182,852 (GRCm39)	L163H	probably damaging	Het
Pcdh7	T	A	5: 57,878,882 (GRCm39)	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,525 (GRCm39)	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,138,902 (GRCm39)	I649M	probably benign	Het
Plcl2	G	A	17: 50,914,757 (GRCm39)	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674 (GRCm39)	T325N	possibly damaging	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,529,021 (GRCm39)		probably benign	Het
Ptcd2	A	G	13: 99,481,105 (GRCm39)	S25P	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137 (GRCm39)	V481E	probably damaging	Het
Sephs2	G	T	7: 126,872,139 (GRCm39)	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,042,313 (GRCm39)	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,750,519 (GRCm39)		probably null	Het
Slc66a2	T	G	18: 80,326,529 (GRCm39)	S126A	probably benign	Het
Smarca2	T	C	19: 26,608,228 (GRCm39)	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,184,368 (GRCm39)	I637L	probably benign	Het
Tal2	A	C	4: 53,785,999 (GRCm39)	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,733,447 (GRCm39)	T41S	probably benign	Het
Tent4b	T	A	8: 88,969,937 (GRCm39)	M203K	possibly damaging	Het
Tespa1	T	C	10: 130,196,560 (GRCm39)	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,438 (GRCm39)	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,875,967 (GRCm39)		probably benign	Het
Txnl4a	T	C	18: 80,250,479 (GRCm39)	V25A	probably benign	Het
Utp4	C	A	8: 107,632,908 (GRCm39)	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,613,922 (GRCm39)	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Vmn2r121	C	A	X: 123,037,837 (GRCm39)	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,763,692 (GRCm39)	S190T	probably damaging	Het
Zfp507	A	G	7: 35,475,435 (GRCm39)	V926A	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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGAACGCACACACTGTTTTATG -3'
(R):5'- CCTTTCACACTCTGAGCAGGATGAC -3'

Sequencing Primer
(F):5'- ACCTTGTCATAAAGCGTGGG -3'
(R):5'- GACTCCTCTGAGAAAATGGGACTC -3'

Posted On

2014-03-17