Incidental Mutation 'R8449:Ston2'
| ID |
654678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ston2
|
| Ensembl Gene |
ENSMUSG00000020961 |
| Gene Name |
stonin 2 |
| Synonyms |
4933401N24Rik |
| MMRRC Submission |
067829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
91599686-91753237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91608649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 817
(D817G)
|
| 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: D817G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: D817G
| 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: D817G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: D817G
| 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: 99.4%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
G |
11: 105,885,768 (GRCm39) |
E58G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,629,302 (GRCm39) |
F4I |
possibly damaging |
Het |
| Arih2 |
T |
C |
9: 108,488,872 (GRCm39) |
D282G |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,503,556 (GRCm39) |
V733I |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,845,861 (GRCm39) |
D370G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,975,260 (GRCm39) |
H74R |
|
Het |
| Clec9a |
C |
A |
6: 129,387,292 (GRCm39) |
A49E |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,666,840 (GRCm39) |
|
probably null |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,428 (GRCm39) |
M412T |
possibly damaging |
Het |
| Dhrs7l |
T |
C |
12: 72,659,340 (GRCm39) |
N145D |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,966,815 (GRCm39) |
Q399R |
possibly damaging |
Het |
| Fam47e |
C |
A |
5: 92,702,990 (GRCm39) |
R21S |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,694 (GRCm39) |
I150V |
probably damaging |
Het |
| Gm7361 |
T |
A |
5: 26,465,387 (GRCm39) |
M128K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,468,068 (GRCm39) |
E190K |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,940,286 (GRCm39) |
S396P |
probably damaging |
Het |
| Hrg |
T |
A |
16: 22,780,286 (GRCm39) |
S521R |
unknown |
Het |
| Itih5 |
A |
G |
2: 10,191,800 (GRCm39) |
T112A |
probably benign |
Het |
| Ly9 |
T |
A |
1: 171,421,586 (GRCm39) |
N555I |
probably damaging |
Het |
| Morc2b |
C |
T |
17: 33,355,775 (GRCm39) |
E666K |
probably benign |
Het |
| Mup8 |
C |
A |
4: 60,222,382 (GRCm39) |
V30L |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,418,593 (GRCm39) |
E268D |
probably damaging |
Het |
| Nr4a3 |
G |
T |
4: 48,052,170 (GRCm39) |
R308L |
probably benign |
Het |
| Or10k2 |
A |
T |
8: 84,268,301 (GRCm39) |
H176L |
probably damaging |
Het |
| Or14j1 |
A |
G |
17: 38,146,561 (GRCm39) |
R224G |
probably damaging |
Het |
| Or4c10 |
A |
T |
2: 89,760,878 (GRCm39) |
I242L |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Or8k33 |
T |
G |
2: 86,383,980 (GRCm39) |
I163L |
probably benign |
Het |
| Plcd3 |
A |
G |
11: 102,965,496 (GRCm39) |
Y530H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,144,326 (GRCm39) |
E80V |
probably damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,656 (GRCm39) |
D50N |
probably benign |
Het |
| Shisa6 |
G |
C |
11: 66,416,556 (GRCm39) |
Q79E |
probably benign |
Het |
| Sis |
C |
T |
3: 72,810,984 (GRCm39) |
G1679D |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,386,519 (GRCm39) |
M173K |
possibly damaging |
Het |
| Ticrr |
T |
A |
7: 79,344,428 (GRCm39) |
F1431Y |
probably benign |
Het |
| Uevld |
T |
A |
7: 46,595,055 (GRCm39) |
N179I |
probably damaging |
Het |
| Utp6 |
G |
T |
11: 79,836,610 (GRCm39) |
Q375K |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,785 (GRCm39) |
E322D |
probably damaging |
Het |
| Wnt5a |
A |
G |
14: 28,235,108 (GRCm39) |
M51V |
probably benign |
Het |
| Zfp202 |
A |
T |
9: 40,118,976 (GRCm39) |
R130* |
probably null |
Het |
| Zfp949 |
G |
T |
9: 88,449,302 (GRCm39) |
V36L |
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 |
|
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 |
|
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'- AAATGGGCTTGGACACCTC -3'
(R):5'- CTCTCAGAGCCTGATGTCTG -3'
Sequencing Primer
(F):5'- TTGGACACCTCAGCGGGAAG -3'
(R):5'- AAGCGCCTGATTGGACC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation