Incidental Mutation 'R4066:Stau2'
| ID |
316093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stau2
|
| Ensembl Gene |
ENSMUSG00000025920 |
| Gene Name |
staufen double-stranded RNA binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
040973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4066 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16464283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 156
(S156P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000149320]
[ENSMUST00000151888]
[ENSMUST00000162751]
[ENSMUST00000162627]
[ENSMUST00000159558]
[ENSMUST00000162007]
[ENSMUST00000162435]
|
| AlphaFold |
Q8CJ67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027052
AA Change: S156P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027052
Gene: ENSMUSG00000025920
AA Change: S156P
| 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
AA Change: S188P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920
AA Change: S188P
| 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 benign
Transcript: ENSMUST00000128957
AA Change: S188P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122410
Gene: ENSMUSG00000025920
AA Change: S188P
| 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
AA Change: S150P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121410
Gene: ENSMUSG00000025920
AA Change: S150P
| 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 benign
Transcript: ENSMUST00000149320
AA Change: S188P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118489
Gene: ENSMUSG00000025920
AA Change: S188P
| 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: ENSMUST00000162751
AA Change: S188P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920
AA Change: S188P
| 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 |
possibly damaging
Transcript: ENSMUST00000162627
AA Change: S156P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920
AA Change: S156P
| 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: ENSMUST00000159558
AA Change: S156P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125726
Gene: ENSMUSG00000025920
AA Change: S156P
| 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
AA Change: S156P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124303
Gene: ENSMUSG00000025920
AA Change: S156P
| 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 |
possibly damaging
Transcript: ENSMUST00000162435
AA Change: S156P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920
AA Change: S156P
| 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 |
0.0804 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (50/52) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
T |
1: 63,602,584 (GRCm39) |
H582L |
probably damaging |
Het |
| Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
| Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
| Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
| Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
| Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Myl10 |
A |
G |
5: 136,724,304 (GRCm39) |
K70E |
probably damaging |
Het |
| Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
| Nyap2 |
A |
G |
1: 81,219,550 (GRCm39) |
Y524C |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
| Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
| Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
| Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,590,027 (GRCm39) |
Y673H |
probably damaging |
Het |
| Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
| Shcbp1 |
A |
G |
8: 4,798,716 (GRCm39) |
I401T |
probably damaging |
Het |
| Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,154,592 (GRCm39) |
W209R |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
| Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
| Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
| Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
probably benign |
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 |
|
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 |
|
|
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'- TCCCACGTTACCCACAAGTG -3'
(R):5'- AATGCTTGTGCTCTCTTTCTATAGG -3'
Sequencing Primer
(F):5'- TGAATCAGGTCCTTCCCAGAAG -3'
(R):5'- ATAGGTATCATTGCCCAATGCC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation