Incidental Mutation 'R5350:Stx2'
| ID |
423749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx2
|
| Ensembl Gene |
ENSMUSG00000029428 |
| Gene Name |
syntaxin 2 |
| Synonyms |
repro34, G1-536-1, Syn-2, Epim |
| MMRRC Submission |
042929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
129061621-129085638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129068155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 184
(D184G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031378]
[ENSMUST00000100680]
[ENSMUST00000149877]
[ENSMUST00000195906]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031378
AA Change: D184G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031378
Gene: ENSMUSG00000029428
AA Change: D184G
| Domain | Start | End | E-Value | Type |
|---|
|
SynN
|
25 |
146 |
1.33e-40 |
SMART |
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
185 |
N/A |
INTRINSIC |
|
t_SNARE
|
187 |
254 |
1.74e-19 |
SMART |
|
transmembrane domain
|
266 |
288 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100680
AA Change: D184G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098247
Gene: ENSMUSG00000029428
AA Change: D184G
| Domain | Start | End | E-Value | Type |
|---|
|
SynN
|
25 |
146 |
1.33e-40 |
SMART |
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
185 |
N/A |
INTRINSIC |
|
t_SNARE
|
187 |
254 |
1.74e-19 |
SMART |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149877
|
| SMART Domains |
Protein: ENSMUSP00000118220
Gene: ENSMUSG00000029428
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin
|
1 |
85 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195906
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display male infertility associated with abnormal testicular development and impaired spermatogenesis, increased intestinal growth due to enhanced crypt cell proliferation and crypt fission, and decreased susceptibility to induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Targeted(4) Gene trapped(5) Chemically induced(1)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,006,364 (GRCm39) |
V1247A |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,106,699 (GRCm39) |
M133L |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,382,612 (GRCm39) |
A2100V |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,901,315 (GRCm39) |
K921* |
probably null |
Het |
| Ankrd55 |
T |
G |
13: 112,472,760 (GRCm39) |
V144G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,115,088 (GRCm39) |
L976P |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,301,368 (GRCm39) |
V814E |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,736,199 (GRCm39) |
M960K |
probably damaging |
Het |
| Bag1 |
C |
T |
4: 40,948,007 (GRCm39) |
G66S |
possibly damaging |
Het |
| Bmp8a |
A |
T |
4: 123,207,088 (GRCm39) |
M391K |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,889,551 (GRCm39) |
R216L |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,978,515 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,070,465 (GRCm39) |
F75L |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,666,405 (GRCm39) |
D21E |
possibly damaging |
Het |
| Dach1 |
G |
T |
14: 98,207,395 (GRCm39) |
A318E |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,780 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,618,056 (GRCm39) |
T201A |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,406,862 (GRCm39) |
D214E |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,272,849 (GRCm39) |
G2326C |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,665 (GRCm39) |
F356S |
probably damaging |
Het |
| Duxf3 |
C |
A |
10: 58,066,915 (GRCm39) |
S528I |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,992,439 (GRCm39) |
V28E |
probably damaging |
Het |
| Evi5 |
C |
T |
5: 107,963,544 (GRCm39) |
D344N |
probably benign |
Het |
| Fv1 |
G |
T |
4: 147,954,546 (GRCm39) |
V371L |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,032,412 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
T |
9: 61,967,587 (GRCm39) |
Y521* |
probably null |
Het |
| Grn |
T |
A |
11: 102,327,070 (GRCm39) |
L556Q |
possibly damaging |
Het |
| Icam1 |
C |
A |
9: 20,939,182 (GRCm39) |
Y518* |
probably null |
Het |
| Jag2 |
A |
T |
12: 112,872,542 (GRCm39) |
S1237R |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,251 (GRCm39) |
M1K |
probably null |
Het |
| Nbea |
T |
C |
3: 55,926,845 (GRCm39) |
E786G |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,001,877 (GRCm39) |
M192T |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,879 (GRCm39) |
T225A |
probably benign |
Het |
| Or4a73 |
T |
A |
2: 89,421,432 (GRCm39) |
E9V |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,766 (GRCm39) |
H26L |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,912 (GRCm39) |
M1K |
probably null |
Het |
| Pcnx4 |
A |
C |
12: 72,626,138 (GRCm39) |
N1115H |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,442,134 (GRCm39) |
S585P |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,648,853 (GRCm39) |
S1024N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,092,383 (GRCm39) |
E145K |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,361,513 (GRCm39) |
T539S |
probably benign |
Het |
| Rit2 |
A |
G |
18: 31,449,905 (GRCm39) |
V31A |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,531,663 (GRCm39) |
P780S |
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,614,838 (GRCm39) |
T336K |
possibly damaging |
Het |
| Smo |
A |
T |
6: 29,754,466 (GRCm39) |
Q232L |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,486,746 (GRCm39) |
Y48C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
|
| Other mutations in Stx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01729:Stx2
|
APN |
5 |
129,068,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01951:Stx2
|
APN |
5 |
129,069,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02348:Stx2
|
APN |
5 |
129,065,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Stx2
|
APN |
5 |
129,069,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Stx2
|
UTSW |
5 |
129,076,572 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0050:Stx2
|
UTSW |
5 |
129,076,572 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0277:Stx2
|
UTSW |
5 |
129,065,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0323:Stx2
|
UTSW |
5 |
129,065,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0419:Stx2
|
UTSW |
5 |
129,070,641 (GRCm39) |
splice site |
probably benign |
|
|
R0843:Stx2
|
UTSW |
5 |
129,076,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1346:Stx2
|
UTSW |
5 |
129,065,852 (GRCm39) |
unclassified |
probably benign |
|
|
R1631:Stx2
|
UTSW |
5 |
129,069,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Stx2
|
UTSW |
5 |
129,065,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Stx2
|
UTSW |
5 |
129,064,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7379:Stx2
|
UTSW |
5 |
129,064,863 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7391:Stx2
|
UTSW |
5 |
129,065,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Stx2
|
UTSW |
5 |
129,063,481 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7803:Stx2
|
UTSW |
5 |
129,070,627 (GRCm39) |
nonsense |
probably null |
|
|
R8354:Stx2
|
UTSW |
5 |
129,071,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8725:Stx2
|
UTSW |
5 |
129,070,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9348:Stx2
|
UTSW |
5 |
129,076,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9768:Stx2
|
UTSW |
5 |
129,063,422 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCTAAGACTCTCCGCAC -3'
(R):5'- TCAGGCTGCGTCCTCATTG -3'
Sequencing Primer
(F):5'- CACCCGGGCTCTGTCTG -3'
(R):5'- TGTCTCTCAGCTGGGAGGAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation