Incidental Mutation 'R8490:Ston2'
| ID |
657959 |
| 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: 0.146)
|
| Stock # |
R8490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91599686-91753237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91614905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 501
(V501A)
|
| 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: V501A
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: V501A
| 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: V501A
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: V501A
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,323,256 (GRCm39) |
K1609Q |
probably damaging |
Het |
| Arl5a |
A |
G |
2: 52,314,614 (GRCm39) |
F12L |
probably benign |
Het |
| Armc9 |
C |
T |
1: 86,202,125 (GRCm39) |
T761I |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,727,573 (GRCm39) |
F670S |
possibly damaging |
Het |
| Cd34 |
T |
C |
1: 194,621,281 (GRCm39) |
V3A |
probably benign |
Het |
| Cdkn2a |
A |
T |
4: 89,212,759 (GRCm39) |
M1K |
probably null |
Het |
| Cep135 |
C |
A |
5: 76,786,054 (GRCm39) |
H1052Q |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,390,721 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
A |
T |
5: 30,703,075 (GRCm39) |
Y17N |
probably damaging |
Het |
| Col3a1 |
T |
G |
1: 45,385,116 (GRCm39) |
S78A |
probably benign |
Het |
| Crebzf |
A |
G |
7: 90,092,706 (GRCm39) |
M162V |
probably benign |
Het |
| Dbx2 |
T |
A |
15: 95,552,454 (GRCm39) |
M64L |
possibly damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,380,128 (GRCm39) |
T884S |
probably damaging |
Het |
| Erich3 |
T |
A |
3: 154,401,461 (GRCm39) |
S37T |
|
Het |
| Eya1 |
G |
T |
1: 14,254,899 (GRCm39) |
Q383K |
possibly damaging |
Het |
| Gm15130 |
A |
T |
2: 110,983,230 (GRCm39) |
|
probably null |
Het |
| Ido1 |
A |
T |
8: 25,086,954 (GRCm39) |
M1K |
probably null |
Het |
| Loxhd1 |
C |
T |
18: 77,529,162 (GRCm39) |
T1069M |
possibly damaging |
Het |
| Lrrtm2 |
T |
G |
18: 35,346,451 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
T |
2: 121,135,045 (GRCm39) |
H1716Y |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,446,267 (GRCm39) |
T1854S |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,255,351 (GRCm39) |
S1574P |
probably damaging |
Het |
| Neu1 |
G |
A |
17: 35,150,982 (GRCm39) |
A78T |
probably benign |
Het |
| Nfam1 |
T |
C |
15: 82,907,238 (GRCm39) |
|
probably benign |
Het |
| Or1e27-ps1 |
T |
A |
11: 73,555,675 (GRCm39) |
L80Q |
probably damaging |
Het |
| Or4c10b |
A |
C |
2: 89,711,511 (GRCm39) |
T114P |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,027 (GRCm39) |
M147K |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,331,329 (GRCm39) |
|
probably null |
Het |
| Ptgfrn |
A |
T |
3: 100,963,686 (GRCm39) |
M642K |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,162,864 (GRCm39) |
H980Q |
probably benign |
Het |
| Rfc2 |
C |
A |
5: 134,611,698 (GRCm39) |
S19* |
probably null |
Het |
| Rhbdf1 |
C |
A |
11: 32,160,162 (GRCm39) |
S738I |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,001,011 (GRCm39) |
N1488K |
probably damaging |
Het |
| Rnf31 |
G |
A |
14: 55,833,566 (GRCm39) |
V525I |
probably damaging |
Het |
| Rps27a |
T |
C |
11: 29,496,719 (GRCm39) |
D58G |
probably benign |
Het |
| Serpinc1 |
T |
G |
1: 160,817,028 (GRCm39) |
C41G |
probably damaging |
Het |
| Siglece |
A |
T |
7: 43,309,486 (GRCm39) |
V24D |
probably benign |
Het |
| Sparcl1 |
T |
A |
5: 104,233,574 (GRCm39) |
R592W |
probably null |
Het |
| Stard13 |
A |
G |
5: 150,987,090 (GRCm39) |
S104P |
probably damaging |
Het |
| Sv2b |
C |
A |
7: 74,855,833 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,681,932 (GRCm39) |
R349G |
probably damaging |
Het |
| Tmprss11g |
A |
G |
5: 86,639,976 (GRCm39) |
|
probably null |
Het |
| Tnik |
G |
T |
3: 28,650,321 (GRCm39) |
R507L |
probably damaging |
Het |
| Trabd2b |
G |
T |
4: 114,460,113 (GRCm39) |
S417I |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,681,308 (GRCm39) |
V97E |
probably benign |
Het |
| Vim |
A |
T |
2: 13,584,265 (GRCm39) |
N306Y |
probably damaging |
Het |
| Vmn1r216 |
G |
T |
13: 23,283,979 (GRCm39) |
A221S |
possibly damaging |
Het |
| Vmn2r113 |
G |
A |
17: 23,177,372 (GRCm39) |
A719T |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,794 (GRCm39) |
|
probably null |
Het |
| Vps45 |
T |
C |
3: 95,948,661 (GRCm39) |
S365G |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,134,290 (GRCm39) |
C449* |
probably null |
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 |
|
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 |
|
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'- ACCGTGATCTCCTCTTCGAG -3'
(R):5'- ATCATGTCCTCTAGGCACTGGG -3'
Sequencing Primer
(F):5'- TTAAGCCGACTGTGCTCAG -3'
(R):5'- GGGACCAATCTACATCAAACTGACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation