Incidental Mutation 'R1005:Ston2'
| ID |
95670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ston2
|
| Ensembl Gene |
ENSMUSG00000020961 |
| Gene Name |
stonin 2 |
| Synonyms |
4933401N24Rik |
| MMRRC Submission |
039115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R1005 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91599686-91753237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91615622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 262
(D262G)
|
| 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: D262G
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: D262G
| 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: D262G
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: D262G
| 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 |
0.0766 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,155,530 (GRCm39) |
D163G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,368,872 (GRCm39) |
V117M |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,892,044 (GRCm39) |
M304K |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,104,511 (GRCm39) |
T563A |
probably benign |
Het |
| AW551984 |
G |
A |
9: 39,505,029 (GRCm39) |
Q488* |
probably null |
Het |
| Cbx2 |
A |
G |
11: 118,919,400 (GRCm39) |
R322G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,338,707 (GRCm39) |
T467S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,796,020 (GRCm39) |
I1252V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,789,495 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,331,007 (GRCm39) |
M185V |
probably benign |
Het |
| Flt1 |
G |
T |
5: 147,618,695 (GRCm39) |
N213K |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,346 (GRCm39) |
N265S |
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,336,262 (GRCm39) |
|
probably benign |
Het |
| Gm6871 |
A |
T |
7: 41,195,682 (GRCm39) |
C352S |
probably damaging |
Het |
| Gm9742 |
T |
C |
13: 8,085,251 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,840,921 (GRCm39) |
I18T |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,665,551 (GRCm39) |
Y523C |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,603,758 (GRCm39) |
C198* |
probably null |
Het |
| Mc3r |
A |
G |
2: 172,091,483 (GRCm39) |
H235R |
probably benign |
Het |
| Nr0b2 |
G |
T |
4: 133,280,785 (GRCm39) |
R17L |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,962 (GRCm39) |
F27L |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,826,429 (GRCm39) |
P2L |
possibly damaging |
Het |
| Prrt3 |
G |
A |
6: 113,471,739 (GRCm39) |
A811V |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,855,726 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,726 (GRCm39) |
L115P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,319,547 (GRCm39) |
E599G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,004,501 (GRCm39) |
|
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,904,116 (GRCm39) |
L7Q |
probably damaging |
Het |
| Slfn5 |
T |
A |
11: 82,850,984 (GRCm39) |
L427H |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,085,711 (GRCm39) |
H890Y |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,517,837 (GRCm39) |
|
probably benign |
Het |
| Sptb |
C |
T |
12: 76,648,633 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Trank1 |
T |
G |
9: 111,162,789 (GRCm39) |
M16R |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,742,537 (GRCm39) |
E1385G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,903,403 (GRCm39) |
S47P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGAAACGGAACTGTTTTGGGAG -3'
(R):5'- AGTCCAGCCATGAATGGGCATC -3'
Sequencing Primer
(F):5'- TGCTCTTCAAAGAAAGCACTG -3'
(R):5'- ATGAATGGGCATCCTGCCG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation