Incidental Mutation 'IGL01895:Stau2'
ID 179367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stau2
Ensembl Gene ENSMUSG00000025920
Gene Name staufen double-stranded RNA binding protein 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01895
Quality Score
Status
Chromosome 1
Chromosomal Location 16298898-16590336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16416161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 401 (G401S)
Ref Sequence ENSEMBL: ENSMUSP00000123781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027052] [ENSMUST00000054668] [ENSMUST00000127420] [ENSMUST00000128957] [ENSMUST00000131257] [ENSMUST00000162751] [ENSMUST00000149320] [ENSMUST00000162007] [ENSMUST00000162627] [ENSMUST00000159558] [ENSMUST00000162435]
AlphaFold Q8CJ67
Predicted Effect probably damaging
Transcript: ENSMUST00000027052
AA Change: G401S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027052
Gene: ENSMUSG00000025920
AA Change: G401S

DomainStartEndE-ValueType
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: G433S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920
AA Change: G433S

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000115360
Predicted Effect probably benign
Transcript: ENSMUST00000127420
SMART Domains Protein: ENSMUSP00000122116
Gene: ENSMUSG00000025920

DomainStartEndE-ValueType
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: G433S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122410
Gene: ENSMUSG00000025920
AA Change: G433S

DomainStartEndE-ValueType
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: G395S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000121410
Gene: ENSMUSG00000025920
AA Change: G395S

DomainStartEndE-ValueType
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: ENSMUST00000162751
AA Change: G433S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920
AA Change: G433S

DomainStartEndE-ValueType
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: ENSMUST00000149320
AA Change: G433S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118489
Gene: ENSMUSG00000025920
AA Change: G433S

DomainStartEndE-ValueType
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: ENSMUST00000162007
AA Change: G401S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124303
Gene: ENSMUSG00000025920
AA Change: G401S

DomainStartEndE-ValueType
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: ENSMUST00000162627
AA Change: G401S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920
AA Change: G401S

DomainStartEndE-ValueType
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: G401S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125726
Gene: ENSMUSG00000025920
AA Change: G401S

DomainStartEndE-ValueType
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: ENSMUST00000162435
AA Change: G401S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920
AA Change: G401S

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,678,482 (GRCm39) I56N possibly damaging Het
Akr1c13 A T 13: 4,255,372 (GRCm39) E321V possibly damaging Het
Atp8b3 A T 10: 80,357,662 (GRCm39) V1119D possibly damaging Het
Cacna1e G T 1: 154,319,646 (GRCm39) F1351L probably damaging Het
Cadps2 A G 6: 23,427,274 (GRCm39) W585R probably damaging Het
Ccdc113 C T 8: 96,263,086 (GRCm39) probably benign Het
Ccer1 A T 10: 97,529,912 (GRCm39) I192F unknown Het
Chd8 T C 14: 52,436,551 (GRCm39) N90S probably benign Het
Clca3a1 A T 3: 144,453,333 (GRCm39) C463* probably null Het
Cplane1 T A 15: 8,258,591 (GRCm39) V2279E possibly damaging Het
Cyp2c65 T A 19: 39,060,676 (GRCm39) C179S possibly damaging Het
Dennd4b A G 3: 90,182,874 (GRCm39) Q35R probably benign Het
Enpep T C 3: 129,063,983 (GRCm39) E928G possibly damaging Het
Fem1c T C 18: 46,638,629 (GRCm39) T458A probably benign Het
Fezf2 A T 14: 12,342,498 (GRCm38) *456R probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Iqcm T G 8: 76,615,188 (GRCm39) L423R probably damaging Het
Kcnc4 C A 3: 107,355,534 (GRCm39) V305L probably benign Het
Kif1a G A 1: 92,953,455 (GRCm39) T1337I possibly damaging Het
Lpxn A G 19: 12,810,450 (GRCm39) D298G probably damaging Het
Lypd8 A G 11: 58,281,046 (GRCm39) T203A possibly damaging Het
Mrps28 C T 3: 8,965,119 (GRCm39) V107M probably damaging Het
Myo15b A G 11: 115,774,324 (GRCm39) E586G possibly damaging Het
Pdzk1 C T 3: 96,776,417 (GRCm39) A459V possibly damaging Het
Rbpj A G 5: 53,808,728 (GRCm39) D285G probably damaging Het
Rimbp3 T C 16: 17,029,300 (GRCm39) L908P probably damaging Het
Samd4b T C 7: 28,101,334 (GRCm39) probably null Het
Slc28a2b A C 2: 122,355,572 (GRCm39) Y588S possibly damaging Het
Trpa1 A T 1: 14,957,867 (GRCm39) I697K possibly damaging Het
Ttc17 A C 2: 94,205,491 (GRCm39) V285G possibly damaging Het
Unc5b A G 10: 60,602,864 (GRCm39) F845S probably damaging Het
Vmn1r19 A T 6: 57,382,245 (GRCm39) Q266L probably benign Het
Vmn2r106 T C 17: 20,499,227 (GRCm39) N228S probably benign Het
Vps13d A G 4: 144,882,836 (GRCm39) F919S possibly damaging Het
Zbtb38 C T 9: 96,570,461 (GRCm39) V208I probably benign Het
Zfp990 A T 4: 145,263,427 (GRCm39) T142S probably damaging Het
Zfp990 C A 4: 145,263,428 (GRCm39) T142N probably damaging Het
Other mutations in Stau2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Stau2 APN 1 16,415,922 (GRCm39) makesense probably null
IGL01809:Stau2 APN 1 16,510,539 (GRCm39) splice site probably null
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
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
Posted On 2014-05-07