Incidental Mutation 'R6278:Ston2'
| ID |
507791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ston2
|
| Ensembl Gene |
ENSMUSG00000020961 |
| Gene Name |
stonin 2 |
| Synonyms |
4933401N24Rik |
| MMRRC Submission |
044448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6278 (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 91615104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 435
(K435E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052969]
[ENSMUST00000164713]
|
| AlphaFold |
Q8BZ60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052969
AA Change: K435E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053908
Gene: ENSMUSG00000020961
AA Change: K435E
| 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: K435E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131098
Gene: ENSMUSG00000020961
AA Change: K435E
| 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 |
0.3304 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
C |
7: 119,373,072 (GRCm39) |
S192P |
probably damaging |
Het |
| Amy1 |
T |
A |
3: 113,355,339 (GRCm39) |
Y348F |
probably damaging |
Het |
| Brpf3 |
C |
A |
17: 29,040,258 (GRCm39) |
P893H |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,200,395 (GRCm39) |
T702A |
possibly damaging |
Het |
| Cdk11b |
A |
G |
4: 155,734,060 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,802,729 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,183,394 (GRCm39) |
K465R |
probably damaging |
Het |
| Cldn14 |
A |
C |
16: 93,716,486 (GRCm39) |
L120R |
possibly damaging |
Het |
| Cyp2c69 |
A |
T |
19: 39,831,507 (GRCm39) |
C435* |
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,323,046 (GRCm39) |
E1446V |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,116 (GRCm39) |
D208V |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,915,394 (GRCm39) |
G1430V |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,509,227 (GRCm39) |
D284E |
probably benign |
Het |
| Fam47e |
T |
C |
5: 92,710,376 (GRCm39) |
L125P |
probably damaging |
Het |
| Far1 |
A |
G |
7: 113,167,344 (GRCm39) |
I476M |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,819,242 (GRCm39) |
I4992L |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,698 (GRCm39) |
N1028K |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,004,941 (GRCm39) |
K615E |
probably damaging |
Het |
| Gykl1 |
G |
T |
18: 52,828,280 (GRCm39) |
S496I |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,573,170 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
A |
13: 114,982,424 (GRCm39) |
H1027L |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,423,498 (GRCm39) |
V251E |
probably damaging |
Het |
| Nupr1 |
T |
C |
7: 126,224,518 (GRCm39) |
Y30C |
probably damaging |
Het |
| Or5b119 |
T |
A |
19: 13,457,119 (GRCm39) |
M148L |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,342 (GRCm39) |
I153V |
probably benign |
Het |
| Or5w14 |
A |
T |
2: 87,541,815 (GRCm39) |
L145* |
probably null |
Het |
| Or8g26 |
T |
A |
9: 39,095,594 (GRCm39) |
I40N |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,215 (GRCm39) |
I118N |
possibly damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,332,263 (GRCm39) |
V247M |
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,250,293 (GRCm39) |
V222A |
possibly damaging |
Het |
| Plce1 |
G |
A |
19: 38,713,495 (GRCm39) |
|
probably null |
Het |
| Ppm1m |
T |
C |
9: 106,074,427 (GRCm39) |
R239G |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,056,837 (GRCm39) |
P7S |
probably damaging |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,912 (GRCm39) |
I269T |
possibly damaging |
Het |
| Scoc |
T |
C |
8: 84,184,965 (GRCm39) |
S2G |
unknown |
Het |
| Spesp1 |
A |
T |
9: 62,179,921 (GRCm39) |
M329K |
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,026,149 (GRCm39) |
L69F |
probably damaging |
Het |
| Tigd5 |
T |
C |
15: 75,781,842 (GRCm39) |
I68T |
probably damaging |
Het |
| Tmcc2 |
A |
T |
1: 132,286,720 (GRCm39) |
M577K |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,849,798 (GRCm39) |
I263N |
possibly damaging |
Het |
| Trip13 |
T |
C |
13: 74,061,439 (GRCm39) |
E408G |
probably benign |
Het |
| Txnl4b |
T |
C |
8: 110,295,735 (GRCm39) |
|
probably null |
Het |
| Ube2o |
T |
C |
11: 116,430,369 (GRCm39) |
E1123G |
probably damaging |
Het |
| Vmn1r123 |
A |
G |
7: 20,896,774 (GRCm39) |
H222R |
possibly damaging |
Het |
| Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,567,863 (GRCm39) |
V1052D |
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 |
|
|
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 |
|
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'- GGTCTATCCTCAAGCTGTGGATC -3'
(R):5'- TGATGATTCAGGCAAAAGCCAG -3'
Sequencing Primer
(F):5'- TCAAGCTGTGGATCCTCCCG -3'
(R):5'- GGCAAAAGCCAGCCCCAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation