Incidental Mutation 'R5496:Stau2'
ID |
432314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stau2
|
Ensembl Gene |
ENSMUSG00000025920 |
Gene Name |
staufen double-stranded RNA binding protein 2 |
Synonyms |
|
MMRRC Submission |
043057-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5496 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16460245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 231
(S231G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000149320]
[ENSMUST00000151888]
[ENSMUST00000162751]
[ENSMUST00000162435]
[ENSMUST00000162627]
[ENSMUST00000162007]
[ENSMUST00000159558]
|
AlphaFold |
Q8CJ67 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027052
AA Change: S199G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000027052 Gene: ENSMUSG00000025920 AA Change: S199G
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
3e-3 |
SMART |
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
434 |
479 |
5e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054668
AA Change: S231G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053190 Gene: ENSMUSG00000025920 AA Change: S231G
Domain | Start | End | E-Value | Type |
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
DSRM
|
96 |
180 |
2.36e-7 |
SMART |
DSRM
|
208 |
273 |
1.84e-18 |
SMART |
DSRM
|
308 |
374 |
5.45e-21 |
SMART |
low complexity region
|
447 |
465 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
466 |
511 |
6e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127420
|
SMART Domains |
Protein: ENSMUSP00000122116 Gene: ENSMUSG00000025920
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
2e-4 |
SMART |
Blast:DSRM
|
5 |
42 |
9e-17 |
BLAST |
Blast:DSRM
|
64 |
110 |
2e-25 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128957
AA Change: S231G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122410 Gene: ENSMUSG00000025920 AA Change: S231G
Domain | Start | End | E-Value | Type |
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
DSRM
|
96 |
180 |
2.36e-7 |
SMART |
DSRM
|
208 |
273 |
1.84e-18 |
SMART |
DSRM
|
308 |
374 |
5.45e-21 |
SMART |
low complexity region
|
447 |
465 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
466 |
511 |
2e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131257
AA Change: S193G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121410 Gene: ENSMUSG00000025920 AA Change: S193G
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
1 |
34 |
9e-3 |
SMART |
DSRM
|
58 |
142 |
2.36e-7 |
SMART |
DSRM
|
170 |
235 |
1.84e-18 |
SMART |
DSRM
|
270 |
336 |
5.45e-21 |
SMART |
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
428 |
473 |
2e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149320
AA Change: S231G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118489 Gene: ENSMUSG00000025920 AA Change: S231G
Domain | Start | End | E-Value | Type |
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
DSRM
|
96 |
180 |
2.36e-7 |
SMART |
DSRM
|
208 |
273 |
1.84e-18 |
SMART |
DSRM
|
308 |
374 |
5.45e-21 |
SMART |
low complexity region
|
447 |
465 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
466 |
511 |
2e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151888
|
SMART Domains |
Protein: ENSMUSP00000125473 Gene: ENSMUSG00000025920
Domain | Start | End | E-Value | Type |
Blast:DSRM
|
1 |
55 |
3e-35 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162751
AA Change: S231G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124505 Gene: ENSMUSG00000025920 AA Change: S231G
Domain | Start | End | E-Value | Type |
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
DSRM
|
96 |
180 |
2.36e-7 |
SMART |
DSRM
|
208 |
273 |
1.84e-18 |
SMART |
DSRM
|
308 |
374 |
5.45e-21 |
SMART |
Pfam:Staufen_C
|
455 |
523 |
6.5e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162435
AA Change: S199G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123827 Gene: ENSMUSG00000025920 AA Change: S199G
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
3e-3 |
SMART |
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
434 |
479 |
5e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162627
AA Change: S199G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123781 Gene: ENSMUSG00000025920 AA Change: S199G
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
3e-3 |
SMART |
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
434 |
479 |
5e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162007
AA Change: S199G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124303 Gene: ENSMUSG00000025920 AA Change: S199G
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
2e-3 |
SMART |
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
434 |
479 |
2e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159558
AA Change: S199G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125726 Gene: ENSMUSG00000025920 AA Change: S199G
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
2e-3 |
SMART |
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
434 |
479 |
2e-6 |
PDB |
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,724,818 (GRCm39) |
V84I |
probably benign |
Het |
Adam10 |
T |
G |
9: 70,630,021 (GRCm39) |
F151C |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,187,436 (GRCm39) |
S1617G |
possibly damaging |
Het |
Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
Atmin |
A |
G |
8: 117,683,911 (GRCm39) |
T524A |
probably benign |
Het |
Bicra |
C |
T |
7: 15,721,766 (GRCm39) |
V584I |
probably benign |
Het |
Carmil1 |
G |
A |
13: 24,339,433 (GRCm39) |
R54C |
probably damaging |
Het |
Cbln1 |
A |
G |
8: 88,198,324 (GRCm39) |
I127T |
possibly damaging |
Het |
Ccl26 |
A |
G |
5: 135,592,217 (GRCm39) |
V40A |
probably benign |
Het |
Cdh20 |
T |
A |
1: 109,976,647 (GRCm39) |
I104N |
probably damaging |
Het |
Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,141,855 (GRCm39) |
I359T |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,509,467 (GRCm39) |
|
probably benign |
Het |
Csf2rb |
A |
G |
15: 78,224,761 (GRCm39) |
E173G |
probably damaging |
Het |
Cyb561 |
A |
G |
11: 105,828,545 (GRCm39) |
Y94H |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,404,341 (GRCm39) |
K34M |
probably damaging |
Het |
Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
Dnah7a |
T |
G |
1: 53,496,927 (GRCm39) |
M3110L |
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,695,956 (GRCm39) |
E434G |
probably damaging |
Het |
Ebag9 |
T |
G |
15: 44,503,816 (GRCm39) |
*214E |
probably null |
Het |
Egln3 |
A |
T |
12: 54,250,110 (GRCm39) |
W80R |
probably damaging |
Het |
Eps15l1 |
A |
G |
8: 73,136,619 (GRCm39) |
Y336H |
probably benign |
Het |
Gak |
A |
G |
5: 108,724,483 (GRCm39) |
S1076P |
probably benign |
Het |
Glra1 |
T |
C |
11: 55,418,241 (GRCm39) |
Y168C |
probably damaging |
Het |
Glrx2 |
T |
A |
1: 143,620,945 (GRCm39) |
M108K |
probably damaging |
Het |
Gm3604 |
A |
T |
13: 62,519,393 (GRCm39) |
S59T |
possibly damaging |
Het |
Gm8212 |
A |
T |
14: 44,438,614 (GRCm39) |
|
probably benign |
Het |
Gmcl1 |
G |
T |
6: 86,674,507 (GRCm39) |
A457D |
probably damaging |
Het |
H2-M11 |
T |
C |
17: 36,858,871 (GRCm39) |
F137S |
possibly damaging |
Het |
Ighv1-55 |
C |
G |
12: 115,172,140 (GRCm39) |
W3S |
probably damaging |
Het |
Il22 |
T |
G |
10: 118,041,002 (GRCm39) |
V36G |
possibly damaging |
Het |
Ints1 |
G |
A |
5: 139,740,953 (GRCm39) |
A1904V |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,766,561 (GRCm39) |
Y1481H |
probably damaging |
Het |
Kcnn3 |
C |
T |
3: 89,516,797 (GRCm39) |
A402V |
possibly damaging |
Het |
Kif18b |
A |
T |
11: 102,804,568 (GRCm39) |
I362N |
possibly damaging |
Het |
Kif5c |
C |
G |
2: 49,620,202 (GRCm39) |
A223G |
possibly damaging |
Het |
Kntc1 |
A |
G |
5: 123,922,245 (GRCm39) |
D948G |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,383,290 (GRCm39) |
T229A |
possibly damaging |
Het |
Leprot |
T |
A |
4: 101,515,093 (GRCm39) |
I113N |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,817,985 (GRCm39) |
D2415G |
probably benign |
Het |
Mnd1 |
T |
A |
3: 83,995,481 (GRCm39) |
D171V |
probably damaging |
Het |
Mthfsd |
A |
T |
8: 121,825,553 (GRCm39) |
Y339* |
probably null |
Het |
Nfatc2 |
G |
A |
2: 168,378,198 (GRCm39) |
T268M |
probably damaging |
Het |
Or14j10 |
T |
C |
17: 37,935,469 (GRCm39) |
D19G |
probably benign |
Het |
Or52d3 |
G |
C |
7: 104,229,701 (GRCm39) |
A283P |
probably damaging |
Het |
Or8h7 |
G |
T |
2: 86,720,658 (GRCm39) |
P287Q |
probably damaging |
Het |
Or8h7 |
G |
C |
2: 86,720,659 (GRCm39) |
P287A |
probably damaging |
Het |
Pan3 |
G |
A |
5: 147,463,938 (GRCm39) |
|
probably null |
Het |
Pde6a |
A |
T |
18: 61,386,736 (GRCm39) |
|
probably null |
Het |
Prss39 |
T |
C |
1: 34,539,342 (GRCm39) |
I194T |
possibly damaging |
Het |
Rfx8 |
T |
C |
1: 39,709,507 (GRCm39) |
S507G |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,988,928 (GRCm39) |
S774P |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Smurf1 |
C |
A |
5: 144,819,403 (GRCm39) |
E601* |
probably null |
Het |
Timp2 |
T |
G |
11: 118,194,707 (GRCm39) |
M161L |
probably benign |
Het |
Tlr5 |
T |
C |
1: 182,801,197 (GRCm39) |
L167P |
probably damaging |
Het |
Trhr |
G |
A |
15: 44,060,932 (GRCm39) |
A151T |
probably benign |
Het |
Unc13d |
A |
G |
11: 115,957,534 (GRCm39) |
V807A |
probably damaging |
Het |
Usp2 |
T |
C |
9: 43,996,505 (GRCm39) |
V7A |
possibly damaging |
Het |
Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
Zan |
A |
G |
5: 137,434,607 (GRCm39) |
I2232T |
unknown |
Het |
Zfp12 |
C |
A |
5: 143,230,550 (GRCm39) |
C292* |
probably null |
Het |
Zfp850 |
A |
C |
7: 27,706,771 (GRCm39) |
M43R |
probably damaging |
Het |
Zic5 |
G |
A |
14: 122,696,755 (GRCm39) |
T620M |
unknown |
Het |
|
Other mutations in Stau2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Stau2
|
APN |
1 |
16,415,922 (GRCm39) |
makesense |
probably null |
|
IGL01809:Stau2
|
APN |
1 |
16,510,539 (GRCm39) |
splice site |
probably null |
|
IGL01895:Stau2
|
APN |
1 |
16,416,161 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02164:Stau2
|
APN |
1 |
16,416,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02507:Stau2
|
APN |
1 |
16,556,293 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0124:Stau2
|
UTSW |
1 |
16,533,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R0595:Stau2
|
UTSW |
1 |
16,510,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R1104:Stau2
|
UTSW |
1 |
16,510,585 (GRCm39) |
nonsense |
probably null |
|
R1296:Stau2
|
UTSW |
1 |
16,510,596 (GRCm39) |
missense |
probably benign |
|
R1359:Stau2
|
UTSW |
1 |
16,462,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R2884:Stau2
|
UTSW |
1 |
16,301,290 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4066:Stau2
|
UTSW |
1 |
16,464,283 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4718:Stau2
|
UTSW |
1 |
16,416,269 (GRCm39) |
splice site |
probably null |
|
R6232:Stau2
|
UTSW |
1 |
16,445,035 (GRCm39) |
missense |
probably benign |
0.00 |
R6447:Stau2
|
UTSW |
1 |
16,460,049 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6964:Stau2
|
UTSW |
1 |
16,460,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Stau2
|
UTSW |
1 |
16,530,553 (GRCm39) |
missense |
unknown |
|
R7885:Stau2
|
UTSW |
1 |
16,530,577 (GRCm39) |
missense |
unknown |
|
R8142:Stau2
|
UTSW |
1 |
16,530,575 (GRCm39) |
missense |
unknown |
|
R8161:Stau2
|
UTSW |
1 |
16,416,049 (GRCm39) |
missense |
probably benign |
0.00 |
R9173:Stau2
|
UTSW |
1 |
16,444,933 (GRCm39) |
nonsense |
probably null |
|
R9774:Stau2
|
UTSW |
1 |
16,445,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R9787:Stau2
|
UTSW |
1 |
16,530,595 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCATGTTGTGGTCCATCAATACAG -3'
(R):5'- GAGACCATGACTGACTGTAAATTAC -3'
Sequencing Primer
(F):5'- TGGATAGTCACAAGTATATGCTTACC -3'
(R):5'- ACACAAATGCTGCCATG -3'
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Posted On |
2016-10-05 |