Incidental Mutation 'R8142:Stau2'
ID |
632565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stau2
|
Ensembl Gene |
ENSMUSG00000025920 |
Gene Name |
staufen double-stranded RNA binding protein 2 |
Synonyms |
|
MMRRC Submission |
067570-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8142 (G1)
|
Quality Score |
212.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16530575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 115
(S115P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000115359]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000144138]
[ENSMUST00000145092]
[ENSMUST00000149320]
[ENSMUST00000151888]
[ENSMUST00000153966]
[ENSMUST00000159558]
[ENSMUST00000162007]
[ENSMUST00000162435]
[ENSMUST00000162627]
[ENSMUST00000162751]
|
AlphaFold |
Q8CJ67 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027052
|
SMART Domains |
Protein: ENSMUSP00000027052 Gene: ENSMUSG00000025920
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: ENSMUST00000054668
|
SMART Domains |
Protein: ENSMUSP00000053190 Gene: ENSMUSG00000025920
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 |
unknown
Transcript: ENSMUST00000115359
AA Change: S115P
|
SMART Domains |
Protein: ENSMUSP00000111016 Gene: ENSMUSG00000025920 AA Change: S115P
Domain | Start | End | E-Value | Type |
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
low complexity region
|
76 |
94 |
N/A |
INTRINSIC |
|
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 benign
Transcript: ENSMUST00000128957
|
SMART Domains |
Protein: ENSMUSP00000122410 Gene: ENSMUSG00000025920
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: ENSMUST00000131257
|
SMART Domains |
Protein: ENSMUSP00000121410 Gene: ENSMUSG00000025920
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 |
unknown
Transcript: ENSMUST00000144138
AA Change: S115P
|
SMART Domains |
Protein: ENSMUSP00000119130 Gene: ENSMUSG00000025920 AA Change: S115P
Domain | Start | End | E-Value | Type |
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
low complexity region
|
76 |
94 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145092
AA Change: S83P
|
SMART Domains |
Protein: ENSMUSP00000115041 Gene: ENSMUSG00000025920 AA Change: S83P
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
1e-4 |
SMART |
Blast:DSRM
|
5 |
42 |
1e-16 |
BLAST |
low complexity region
|
44 |
62 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149320
|
SMART Domains |
Protein: ENSMUSP00000118489 Gene: ENSMUSG00000025920
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 benign
Transcript: ENSMUST00000153966
|
SMART Domains |
Protein: ENSMUSP00000117537 Gene: ENSMUSG00000025920
Domain | Start | End | E-Value | Type |
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159558
|
SMART Domains |
Protein: ENSMUSP00000125726 Gene: ENSMUSG00000025920
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: ENSMUST00000162007
|
SMART Domains |
Protein: ENSMUSP00000124303 Gene: ENSMUSG00000025920
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
|
SMART Domains |
Protein: ENSMUSP00000123827 Gene: ENSMUSG00000025920
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
|
SMART Domains |
Protein: ENSMUSP00000123781 Gene: ENSMUSG00000025920
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: ENSMUST00000162751
|
SMART Domains |
Protein: ENSMUSP00000124505 Gene: ENSMUSG00000025920
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 |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
Epha10 |
A |
G |
4: 124,779,639 (GRCm39) |
T162A |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
Nherf4 |
A |
G |
9: 44,162,078 (GRCm39) |
|
probably null |
Het |
Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
Sh3rf3 |
C |
T |
10: 58,885,205 (GRCm39) |
R363* |
probably null |
Het |
Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
Slc1a4 |
A |
G |
11: 20,257,890 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
Wdr72 |
T |
G |
9: 74,046,949 (GRCm39) |
V65G |
probably damaging |
Het |
Zbtb21 |
T |
C |
16: 97,752,675 (GRCm39) |
E536G |
probably damaging |
Het |
Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
possibly 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 |
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 |
|
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'- AACTGCTACTAGGGTGCACCAG -3'
(R):5'- AGTGCACACATTACTGTTGCC -3'
Sequencing Primer
(F):5'- GCAGTACTGATGATCCTAGGTTCAC -3'
(R):5'- TTGCCAAGCTGAATAGGCTC -3'
|
Posted On |
2020-06-30 |