Incidental Mutation 'R9238:Ston2'
| ID |
700601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ston2
|
| Ensembl Gene |
ENSMUSG00000020961 |
| Gene Name |
stonin 2 |
| Synonyms |
4933401N24Rik |
| MMRRC Submission |
068987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91599686-91753237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91615461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 316
(T316A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052969]
[ENSMUST00000164713]
|
| AlphaFold |
Q8BZ60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052969
AA Change: T316A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: T316A
| 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 benign
Transcript: ENSMUST00000164713
AA Change: T316A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: T316A
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (47/48) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
C |
A |
5: 137,653,622 (GRCm39) |
V365F |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,089,441 (GRCm38) |
N319I |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,858,087 (GRCm39) |
V13M |
unknown |
Het |
| Boc |
T |
C |
16: 44,311,021 (GRCm39) |
T738A |
|
Het |
| C2cd5 |
A |
G |
6: 143,027,127 (GRCm39) |
V126A |
possibly damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,273 (GRCm39) |
L261Q |
possibly damaging |
Het |
| Chi3l1 |
T |
C |
1: 134,115,685 (GRCm39) |
L231P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,399,027 (GRCm39) |
C604S |
probably null |
Het |
| Dop1a |
T |
C |
9: 86,415,027 (GRCm39) |
V1923A |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,546,018 (GRCm39) |
S230P |
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,095,274 (GRCm39) |
E892G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,705,871 (GRCm39) |
T1133A |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,832,220 (GRCm39) |
I1518F |
possibly damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,508 (GRCm39) |
C2580S |
probably damaging |
Het |
| Ino80b |
T |
A |
6: 83,102,314 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,009,889 (GRCm39) |
R1274G |
probably damaging |
Het |
| Lcn12 |
A |
G |
2: 25,382,273 (GRCm39) |
I144T |
possibly damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,509,859 (GRCm39) |
P703Q |
unknown |
Het |
| Mroh5 |
T |
C |
15: 73,663,586 (GRCm39) |
N158S |
probably benign |
Het |
| Mtpap |
G |
T |
18: 4,396,439 (GRCm39) |
G577V |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,177 (GRCm39) |
V967A |
possibly damaging |
Het |
| Ndufa11 |
T |
C |
17: 57,028,112 (GRCm39) |
Y61H |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,144,530 (GRCm39) |
N602K |
probably damaging |
Het |
| Nubp1 |
C |
A |
16: 10,231,604 (GRCm39) |
T85K |
probably benign |
Het |
| Oosp3 |
A |
G |
19: 11,676,753 (GRCm39) |
I37M |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,057,951 (GRCm39) |
S73P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,352 (GRCm39) |
I143T |
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,350,529 (GRCm39) |
T8A |
probably benign |
Het |
| Osmr |
T |
G |
15: 6,846,086 (GRCm39) |
I779L |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,190 (GRCm39) |
D370G |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,550,570 (GRCm39) |
S571P |
probably benign |
Het |
| Pgbd5 |
A |
G |
8: 125,106,930 (GRCm39) |
I204T |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,604,799 (GRCm39) |
I1172T |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,606,412 (GRCm39) |
H1164L |
possibly damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,099,954 (GRCm39) |
F156L |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,017 (GRCm39) |
E274G |
possibly damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,199,479 (GRCm39) |
D258G |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,265,733 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
G |
T |
6: 141,686,153 (GRCm39) |
T229K |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,447 (GRCm39) |
T1568N |
probably damaging |
Het |
| Tacc1 |
A |
T |
8: 25,672,634 (GRCm39) |
M198K |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,710,652 (GRCm39) |
F76S |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,687,082 (GRCm39) |
I288V |
possibly damaging |
Het |
| Vmn2r50 |
G |
A |
7: 9,781,503 (GRCm39) |
S414F |
probably benign |
Het |
| Zfp141 |
G |
A |
7: 42,125,111 (GRCm39) |
R454* |
probably null |
Het |
| Zscan22 |
T |
A |
7: 12,641,075 (GRCm39) |
C440S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,339 (GRCm39) |
Q153L |
probably 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 |
|
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 |
|
|
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'- GCTTTTGCCTGAATCATCAAAGC -3'
(R):5'- AAGACAATGAAGTCGGCTGC -3'
Sequencing Primer
(F):5'- TCAAAGCTGATGGCATCCTG -3'
(R):5'- AATGAAGTCGGCTGCCCTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation