Mutagenetix > Incidental Mutation

Incidental Mutation 'R6447:Stau2'

519215

Institutional Source

Beutler Lab

Gene Symbol

Stau2

Ensembl Gene

ENSMUSG00000025920

Gene Name

staufen double-stranded RNA binding protein 2

Synonyms

MMRRC Submission

044389-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16298898-16590336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16460049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 264 (V264E)

Ref Sequence

ENSEMBL: ENSMUSP00000123781 (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

possibly damaging
Transcript: ENSMUST00000027052
AA Change: V264E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027052
Gene: ENSMUSG00000025920
AA Change: V264E

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

possibly damaging
Transcript: ENSMUST00000054668
AA Change: V296E

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920
AA Change: V296E

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: V296E

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122410
Gene: ENSMUSG00000025920
AA Change: V296E

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: V258E

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121410
Gene: ENSMUSG00000025920
AA Change: V258E

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: V296E

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118489
Gene: ENSMUSG00000025920
AA Change: V296E

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

possibly damaging
Transcript: ENSMUST00000162751
AA Change: V296E

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920
AA Change: V296E

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: ENSMUST00000159558
AA Change: V264E

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125726
Gene: ENSMUSG00000025920
AA Change: V264E

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: ENSMUST00000162007
AA Change: V264E

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124303
Gene: ENSMUSG00000025920
AA Change: V264E

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: V264E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920
AA Change: V264E

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

possibly damaging
Transcript: ENSMUST00000162627
AA Change: V264E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920
AA Change: V264E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	G	3: 59,772,819 (GRCm39)	I108V	probably damaging	Het
Axl	C	A	7: 25,469,708 (GRCm39)	R476I	probably damaging	Het
Casr	A	G	16: 36,315,907 (GRCm39)	L721P	probably damaging	Het
Cntn6	A	T	6: 104,836,409 (GRCm39)	H925L	probably damaging	Het
Csmd1	T	C	8: 15,960,527 (GRCm39)	Y3296C	probably damaging	Het
Dnah3	G	A	7: 119,522,277 (GRCm39)	T3972M	probably benign	Het
Ect2	A	G	3: 27,169,633 (GRCm39)	F740S	probably damaging	Het
Eif1ad10	T	C	12: 88,216,494 (GRCm39)	D126G	unknown	Het
Exoc1	T	A	5: 76,691,364 (GRCm39)	D222E	probably damaging	Het
Hdac2	T	C	10: 36,869,812 (GRCm39)	V258A	possibly damaging	Het
Lrrk1	A	G	7: 65,952,476 (GRCm39)	S487P	probably benign	Het
Lyplal1	A	T	1: 185,821,639 (GRCm39)		probably null	Het
Nwd2	T	A	5: 63,964,898 (GRCm39)	I1494N	probably benign	Het
Pcdhb22	A	G	18: 37,653,269 (GRCm39)	E579G	possibly damaging	Het
Samd8	T	C	14: 21,842,624 (GRCm39)		probably null	Het
Sccpdh	A	G	1: 179,506,453 (GRCm39)	*131W	probably null	Het
Smarcal1	C	T	1: 72,625,033 (GRCm39)	S60L	probably damaging	Het
T	T	C	17: 8,660,463 (GRCm39)	I217T	possibly damaging	Het
Tbc1d1	C	T	5: 64,490,836 (GRCm39)	L896F	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,676,086 (GRCm39)	Y365C	probably damaging	Het
Trdv4	A	G	14: 54,312,931 (GRCm39)	T102A	probably damaging	Het
Vmn1r205	G	T	13: 22,776,912 (GRCm39)	N63K	probably damaging	Het
Vps13b	T	C	15: 35,572,272 (GRCm39)	V963A	probably benign	Het
Zswim2	T	C	2: 83,745,457 (GRCm39)		probably null	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
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'- GCATGTTACTCACTAGAAACCCAAG -3'
(R):5'- TGGACCACCACATATGAAGAG -3'

Sequencing Primer
(F):5'- GACAAATCTAACTCAGTGGTATTTGC -3'
(R):5'- GGACCACCACATATGAAGAGTTTTG -3'

Posted On

2018-05-24