Incidental Mutation 'R6964:Stau2'
ID |
541857 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stau2
|
Ensembl Gene |
ENSMUSG00000025920 |
Gene Name |
staufen double-stranded RNA binding protein 2 |
Synonyms |
|
MMRRC Submission |
045074-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6964 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 16460229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 204
(M204R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000149320]
[ENSMUST00000151888]
[ENSMUST00000162751]
[ENSMUST00000159558]
[ENSMUST00000162007]
[ENSMUST00000162435]
[ENSMUST00000162627]
|
AlphaFold |
Q8CJ67 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027052
AA Change: M204R
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000027052 Gene: ENSMUSG00000025920 AA Change: M204R
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: M236R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053190 Gene: ENSMUSG00000025920 AA Change: M236R
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: M236R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122410 Gene: ENSMUSG00000025920 AA Change: M236R
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: M198R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121410 Gene: ENSMUSG00000025920 AA Change: M198R
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: M236R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118489 Gene: ENSMUSG00000025920 AA Change: M236R
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: M236R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124505 Gene: ENSMUSG00000025920 AA Change: M236R
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 damaging
Transcript: ENSMUST00000159558
AA Change: M204R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125726 Gene: ENSMUSG00000025920 AA Change: M204R
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: ENSMUST00000162007
AA Change: M204R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124303 Gene: ENSMUSG00000025920 AA Change: M204R
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 benign
Transcript: ENSMUST00000162435
AA Change: M204R
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123827 Gene: ENSMUSG00000025920 AA Change: M204R
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: M204R
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123781 Gene: ENSMUSG00000025920 AA Change: M204R
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 |
|
Meta Mutation Damage Score |
0.6538 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630089N07Rik |
A |
T |
16: 97,866,959 (GRCm39) |
Y334* |
probably null |
Het |
Abcc2 |
A |
C |
19: 43,786,515 (GRCm39) |
I116L |
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,559,148 (GRCm39) |
Y313N |
possibly damaging |
Het |
Adamts17 |
A |
G |
7: 66,654,101 (GRCm39) |
T444A |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,075,091 (GRCm39) |
I153V |
probably damaging |
Het |
Ambra1 |
C |
T |
2: 91,747,761 (GRCm39) |
Q1046* |
probably null |
Het |
Ap1g2 |
A |
T |
14: 55,336,722 (GRCm39) |
V750D |
possibly damaging |
Het |
Bcl7a |
T |
C |
5: 123,507,519 (GRCm39) |
|
probably null |
Het |
C4bp |
A |
T |
1: 130,585,009 (GRCm39) |
L9Q |
probably damaging |
Het |
Cadps2 |
A |
C |
6: 23,583,458 (GRCm39) |
V344G |
probably damaging |
Het |
Car7 |
A |
G |
8: 105,270,213 (GRCm39) |
D15G |
possibly damaging |
Het |
Cep126 |
G |
C |
9: 8,112,101 (GRCm39) |
H157Q |
probably null |
Het |
Chst11 |
C |
T |
10: 83,027,215 (GRCm39) |
T214I |
probably damaging |
Het |
Cntrob |
G |
A |
11: 69,200,317 (GRCm39) |
R526* |
probably null |
Het |
Cul1 |
A |
G |
6: 47,493,443 (GRCm39) |
T445A |
probably benign |
Het |
Dclre1c |
T |
C |
2: 3,454,206 (GRCm39) |
V363A |
possibly damaging |
Het |
Dock10 |
T |
A |
1: 80,481,365 (GRCm39) |
|
probably benign |
Het |
Donson |
A |
G |
16: 91,478,107 (GRCm39) |
Y465H |
probably benign |
Het |
Eif3e |
G |
A |
15: 43,135,685 (GRCm39) |
A118V |
probably benign |
Het |
Fam47e |
A |
T |
5: 92,713,911 (GRCm39) |
Q180L |
probably damaging |
Het |
Fat1 |
T |
G |
8: 45,496,982 (GRCm39) |
C4156G |
probably damaging |
Het |
Fermt2 |
A |
T |
14: 45,702,599 (GRCm39) |
I441K |
probably damaging |
Het |
Frmd4b |
C |
T |
6: 97,282,158 (GRCm39) |
R510Q |
probably damaging |
Het |
Fscn1 |
C |
T |
5: 142,946,415 (GRCm39) |
A71V |
probably damaging |
Het |
Gfap |
G |
A |
11: 102,787,783 (GRCm39) |
A54V |
possibly damaging |
Het |
Gjc3 |
C |
T |
5: 137,955,759 (GRCm39) |
M175I |
probably benign |
Het |
Gm10645 |
C |
T |
8: 83,892,581 (GRCm39) |
|
probably benign |
Het |
Haus5 |
G |
A |
7: 30,357,040 (GRCm39) |
P464S |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,872,221 (GRCm39) |
I2584F |
probably damaging |
Het |
Mak |
T |
A |
13: 41,186,067 (GRCm39) |
I534L |
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,819,777 (GRCm39) |
D159G |
probably benign |
Het |
Mcat |
A |
G |
15: 83,432,132 (GRCm39) |
|
probably benign |
Het |
Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
Ntng2 |
T |
A |
2: 29,087,041 (GRCm39) |
Y452F |
probably benign |
Het |
Or10ag60 |
T |
C |
2: 87,437,957 (GRCm39) |
L75P |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,333 (GRCm39) |
I246F |
probably benign |
Het |
Or5b118 |
T |
A |
19: 13,448,725 (GRCm39) |
Y130* |
probably null |
Het |
Or5p53 |
A |
T |
7: 107,532,966 (GRCm39) |
I80L |
probably benign |
Het |
Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
Pianp |
T |
A |
6: 124,976,353 (GRCm39) |
V54D |
possibly damaging |
Het |
Ptprn |
T |
C |
1: 75,237,293 (GRCm39) |
D103G |
possibly damaging |
Het |
Rhcg |
A |
G |
7: 79,250,279 (GRCm39) |
V268A |
probably benign |
Het |
Rhoj |
T |
A |
12: 75,422,163 (GRCm39) |
Y74N |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,225,697 (GRCm39) |
S235P |
probably benign |
Het |
Snx13 |
A |
C |
12: 35,169,788 (GRCm39) |
T578P |
possibly damaging |
Het |
Star |
T |
A |
8: 26,301,851 (GRCm39) |
H227Q |
probably benign |
Het |
Steap4 |
A |
G |
5: 8,025,568 (GRCm39) |
Y43C |
probably damaging |
Het |
Syt8 |
A |
G |
7: 141,993,158 (GRCm39) |
E21G |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,535,500 (GRCm39) |
V156A |
probably damaging |
Het |
Tmem106b |
C |
T |
6: 13,082,422 (GRCm39) |
T199M |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,835,373 (GRCm39) |
T1583A |
probably damaging |
Het |
Tom1 |
G |
A |
8: 75,778,593 (GRCm39) |
V87I |
probably null |
Het |
Treml4 |
G |
T |
17: 48,579,847 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,544,457 (GRCm39) |
K32843R |
probably damaging |
Het |
Wdr95 |
T |
G |
5: 149,505,315 (GRCm39) |
C223W |
probably damaging |
Het |
Wipi1 |
C |
T |
11: 109,494,590 (GRCm39) |
R81Q |
probably benign |
Het |
Zc3h7a |
G |
A |
16: 10,967,088 (GRCm39) |
T568I |
probably benign |
Het |
Zfp287 |
A |
T |
11: 62,615,643 (GRCm39) |
I228N |
probably damaging |
Het |
Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
probably damaging |
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 |
|
R5496:Stau2
|
UTSW |
1 |
16,460,245 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ATGCTGCCATGTCGATT -3'
|
Posted On |
2018-11-28 |