Incidental Mutation 'R7317:Stau2'
ID 563439
Institutional Source Beutler Lab
Gene Symbol Stau2
Ensembl Gene ENSMUSG00000025920
Gene Name staufen double-stranded RNA binding protein 2
Synonyms
MMRRC Submission 045369-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 16298898-16590336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16530553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 122 (H122L)
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

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
SMART Domains Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920

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 unknown
Transcript: ENSMUST00000115359
AA Change: H122L
SMART Domains Protein: ENSMUSP00000111016
Gene: ENSMUSG00000025920
AA Change: H122L

DomainStartEndE-ValueType
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

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
SMART Domains Protein: ENSMUSP00000122410
Gene: ENSMUSG00000025920

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
SMART Domains Protein: ENSMUSP00000121410
Gene: ENSMUSG00000025920

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 unknown
Transcript: ENSMUST00000144138
AA Change: H122L
SMART Domains Protein: ENSMUSP00000119130
Gene: ENSMUSG00000025920
AA Change: H122L

DomainStartEndE-ValueType
DSRM 9 74 1.17e-11 SMART
low complexity region 76 94 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000145092
AA Change: H90L
SMART Domains Protein: ENSMUSP00000115041
Gene: ENSMUSG00000025920
AA Change: H90L

DomainStartEndE-ValueType
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

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: ENSMUST00000151888
SMART Domains Protein: ENSMUSP00000125473
Gene: ENSMUSG00000025920

DomainStartEndE-ValueType
Blast:DSRM 1 55 3e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000153966
SMART Domains Protein: ENSMUSP00000117537
Gene: ENSMUSG00000025920

DomainStartEndE-ValueType
DSRM 9 74 1.17e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159558
SMART Domains Protein: ENSMUSP00000125726
Gene: ENSMUSG00000025920

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 benign
Transcript: ENSMUST00000162007
SMART Domains Protein: ENSMUSP00000124303
Gene: ENSMUSG00000025920

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 benign
Transcript: ENSMUST00000162435
SMART Domains Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920

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: ENSMUST00000162627
SMART Domains Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920

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: ENSMUST00000162751
SMART Domains Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,140,202 (GRCm39) P832L probably benign Het
Adamts17 C T 7: 66,490,304 (GRCm39) R129* probably null Het
Alg5 G T 3: 54,656,752 (GRCm39) R321L probably benign Het
Amotl1 T A 9: 14,486,515 (GRCm39) T460S probably benign Het
Ankrd50 T C 3: 38,537,332 (GRCm39) E7G possibly damaging Het
Ap3b2 T C 7: 81,110,776 (GRCm39) T1000A unknown Het
Arap2 G A 5: 62,807,067 (GRCm39) T1200M probably damaging Het
Asb2 A T 12: 103,299,616 (GRCm39) I272N probably damaging Het
Bicd2 T C 13: 49,531,784 (GRCm39) L342P probably damaging Het
C1qtnf6 T A 15: 78,409,206 (GRCm39) I214F probably damaging Het
Cdc42bpg T A 19: 6,364,534 (GRCm39) H587Q probably benign Het
Cfap70 T A 14: 20,450,502 (GRCm39) I1010F possibly damaging Het
Chd1 A T 17: 15,962,536 (GRCm39) K764N possibly damaging Het
Cluh A G 11: 74,556,530 (GRCm39) D956G possibly damaging Het
Ehbp1l1 T C 19: 5,770,730 (GRCm39) D243G probably benign Het
Ercc4 T C 16: 12,939,977 (GRCm39) V169A probably benign Het
Erich6 T C 3: 58,544,305 (GRCm39) E94G probably benign Het
Fubp3 A G 2: 31,494,624 (GRCm39) probably null Het
Gabbr1 C T 17: 37,380,305 (GRCm39) T736I probably damaging Het
Garre1 A G 7: 33,963,072 (GRCm39) V200A probably benign Het
Gm14496 T A 2: 181,637,613 (GRCm39) M229K possibly damaging Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gspt1 T C 16: 11,040,521 (GRCm39) T596A probably benign Het
H1f4 A G 13: 23,806,350 (GRCm39) I44T probably damaging Het
Htr5b T A 1: 121,438,157 (GRCm39) Y358F probably damaging Het
Il18r1 A T 1: 40,513,992 (GRCm39) Y66F possibly damaging Het
Il18rap A G 1: 40,564,536 (GRCm39) T189A probably damaging Het
Irag2 G A 6: 145,104,424 (GRCm39) G164R possibly damaging Het
Itgav G T 2: 83,625,327 (GRCm39) A771S probably benign Het
Klf11 T C 12: 24,705,518 (GRCm39) V324A possibly damaging Het
Krtap15-1 T C 16: 88,626,193 (GRCm39) C87R probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Mbd5 A G 2: 49,169,755 (GRCm39) D1642G probably benign Het
Med15 G T 16: 17,489,507 (GRCm39) Q356K unknown Het
Mmp3 A G 9: 7,446,937 (GRCm39) Y39C probably damaging Het
Mon2 A G 10: 122,849,851 (GRCm39) S1149P probably damaging Het
Msh3 A G 13: 92,422,512 (GRCm39) I548T probably damaging Het
Noc2l T A 4: 156,323,673 (GRCm39) V179E possibly damaging Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or5k3 T G 16: 58,969,684 (GRCm39) M157R possibly damaging Het
Or5p64 G T 7: 107,854,425 (GRCm39) Q307K probably benign Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Pcdhb10 A T 18: 37,546,079 (GRCm39) Q385L possibly damaging Het
Pdzd2 T C 15: 12,592,329 (GRCm39) K105R probably damaging Het
Pex1 A T 5: 3,668,875 (GRCm39) D582V probably damaging Het
Pheta1 A T 5: 121,991,336 (GRCm39) T233S possibly damaging Het
Pi4ka A G 16: 17,223,496 (GRCm39) probably null Het
Pigw T C 11: 84,768,066 (GRCm39) N421S probably benign Het
Plek T C 11: 16,944,739 (GRCm39) K97R probably benign Het
R3hcc1l C T 19: 42,571,979 (GRCm39) R753* probably null Het
R3hdml G A 2: 163,344,367 (GRCm39) W252* probably null Het
Septin12 T C 16: 4,809,599 (GRCm39) K238E probably damaging Het
Sgce G A 6: 4,691,615 (GRCm39) T320I probably benign Het
Sidt2 A T 9: 45,854,988 (GRCm39) C562* probably null Het
Skint8 T C 4: 111,796,717 (GRCm39) C274R possibly damaging Het
Slc13a5 A T 11: 72,135,953 (GRCm39) M529K probably damaging Het
Smg8 T G 11: 86,976,391 (GRCm39) S397R possibly damaging Het
Spock3 G T 8: 63,566,590 (GRCm39) R68L possibly damaging Het
Tent5a G C 9: 85,206,670 (GRCm39) A376G possibly damaging Het
Tert G A 13: 73,790,495 (GRCm39) R858H probably damaging Het
Tgm3 G A 2: 129,890,211 (GRCm39) R658Q probably benign Het
Tmc4 A G 7: 3,672,918 (GRCm39) I455T probably benign Het
Tmtc4 G A 14: 123,215,593 (GRCm39) P18S probably benign Het
Tnc A G 4: 63,890,959 (GRCm39) I1641T probably damaging Het
Trav14-3 A T 14: 54,000,951 (GRCm39) N54I probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc5c T A 3: 141,495,703 (GRCm39) M524K probably benign Het
Unc93a A G 17: 13,335,171 (GRCm39) F292L probably benign Het
Uso1 A G 5: 92,321,851 (GRCm39) N248S possibly damaging Het
Usp5 A G 6: 124,803,281 (GRCm39) L73P probably damaging Het
Utp20 T A 10: 88,598,797 (GRCm39) I60F possibly damaging Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign 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
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
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'- TAACTGCTACTAGGGTGCACCAG -3'
(R):5'- GTTGCCAAGCTGAATAGGCTC -3'

Sequencing Primer
(F):5'- GCAGTACTGATGATCCTAGGTTCAC -3'
(R):5'- GCCAAGCTGAATAGGCTCTTCTAAG -3'
Posted On 2019-06-26