Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Stau2'

282592

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 #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

16298898-16590336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16416052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 469 (L469P)

Ref Sequence

ENSEMBL: ENSMUSP00000124505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027052] [ENSMUST00000054668] [ENSMUST00000127420] [ENSMUST00000128957] [ENSMUST00000131257] [ENSMUST00000149320] [ENSMUST00000162751] [ENSMUST00000162627] [ENSMUST00000162007] [ENSMUST00000159558] [ENSMUST00000162435]

AlphaFold

Q8CJ67

Predicted Effect

probably damaging
Transcript: ENSMUST00000027052
AA Change: L437P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027052
Gene: ENSMUSG00000025920
AA Change: L437P

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 damaging
Transcript: ENSMUST00000054668
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920
AA Change: L469P

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

noncoding transcript
Transcript: ENSMUST00000115360

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 damaging
Transcript: ENSMUST00000128957
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122410
Gene: ENSMUSG00000025920
AA Change: L469P

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 damaging
Transcript: ENSMUST00000131257
AA Change: L431P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121410
Gene: ENSMUSG00000025920
AA Change: L431P

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 damaging
Transcript: ENSMUST00000149320
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118489
Gene: ENSMUSG00000025920
AA Change: L469P

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 damaging
Transcript: ENSMUST00000162751
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920
AA Change: L469P

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

probably damaging
Transcript: ENSMUST00000162627
AA Change: L437P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920
AA Change: L437P

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 damaging
Transcript: ENSMUST00000162007
AA Change: L437P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124303
Gene: ENSMUSG00000025920
AA Change: L437P

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 damaging
Transcript: ENSMUST00000159558
AA Change: L437P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125726
Gene: ENSMUSG00000025920
AA Change: L437P

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 damaging
Transcript: ENSMUST00000162435
AA Change: L437P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920
AA Change: L437P

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

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,537,524 (GRCm39)	V187E	probably benign	Het
Abcc12	T	A	8: 87,254,033 (GRCm39)	D917V	probably damaging	Het
Abhd15	A	T	11: 77,406,840 (GRCm39)	E272D	probably benign	Het
Adat3	T	A	10: 80,442,461 (GRCm39)	S100T	probably benign	Het
Adgrg6	T	C	10: 14,399,299 (GRCm39)		probably benign	Het
Alpl	C	T	4: 137,481,290 (GRCm39)	V121M	probably damaging	Het
Ano1	A	T	7: 144,190,918 (GRCm39)	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,389,285 (GRCm39)		probably benign	Het
Asxl2	A	G	12: 3,552,079 (GRCm39)	M1274V	probably benign	Het
Bmt2	G	T	6: 13,628,878 (GRCm39)	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,725,482 (GRCm39)	L176M	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cd14	T	C	18: 36,858,838 (GRCm39)	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,967,304 (GRCm39)	T215K	possibly damaging	Het
Chd9	T	C	8: 91,659,849 (GRCm39)	S270P	possibly damaging	Het
Cidea	C	T	18: 67,499,581 (GRCm39)	S156L	probably damaging	Het
Col5a3	A	G	9: 20,703,939 (GRCm39)		probably null	Het
Cspg5	T	C	9: 110,080,104 (GRCm39)	V424A	probably damaging	Het
Ctc1	A	G	11: 68,916,922 (GRCm39)	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,772,303 (GRCm39)	S697R	probably damaging	Het
Dennd3	T	C	15: 73,416,297 (GRCm39)	S516P	probably benign	Het
Dipk2b	T	A	X: 18,285,192 (GRCm39)	R421*	probably null	Het
Dlgap4	G	A	2: 156,553,059 (GRCm39)	R509H	probably damaging	Het
Dus3l	T	C	17: 57,074,943 (GRCm39)		probably benign	Het
Dync1h1	G	T	12: 110,628,993 (GRCm39)	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 93,248,678 (GRCm39)	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,336,869 (GRCm39)		probably benign	Het
Ephx2	A	G	14: 66,341,169 (GRCm39)		probably benign	Het
Fabp12	T	A	3: 10,311,075 (GRCm39)	Y129F	probably damaging	Het
Fat3	A	G	9: 15,942,720 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,050,354 (GRCm39)		probably null	Het
Gnb1	T	A	4: 155,641,631 (GRCm39)		probably null	Het
Gpr107	C	A	2: 31,068,298 (GRCm39)	Y253*	probably null	Het
Grb10	C	T	11: 11,893,962 (GRCm39)	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,226,455 (GRCm39)	H154N	probably benign	Het
H2bl1	T	C	13: 99,120,715 (GRCm39)	K104E	probably damaging	Het
Hemk1	T	A	9: 107,208,735 (GRCm39)	H154L	probably benign	Het
Hk2	A	T	6: 82,720,920 (GRCm39)		probably null	Het
Htr5a	A	G	5: 28,047,463 (GRCm39)	N6S	probably damaging	Het
Htra3	T	C	5: 35,810,410 (GRCm39)	D424G	probably benign	Het
Ift52	A	G	2: 162,867,384 (GRCm39)		probably null	Het
Igdcc4	A	G	9: 65,032,064 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,366,444 (GRCm39)	K124E	probably benign	Het
Kcnc2	T	A	10: 112,291,590 (GRCm39)	N259K	possibly damaging	Het
Kics2	A	G	10: 121,586,675 (GRCm39)	Y194C	probably damaging	Het
Lmod2	A	T	6: 24,603,909 (GRCm39)	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,399,536 (GRCm39)	E2324G	probably benign	Het
Lss	T	C	10: 76,372,094 (GRCm39)	S150P	probably damaging	Het
Macf1	T	C	4: 123,374,065 (GRCm39)	N1515S	probably benign	Het
Mapk11	T	C	15: 89,029,651 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,314 (GRCm39)	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,767,737 (GRCm39)	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,472,157 (GRCm39)	F396L	probably damaging	Het
Nek2	A	G	1: 191,559,416 (GRCm39)	K307R	probably benign	Het
Or12d2	C	A	17: 37,624,578 (GRCm39)	M232I	probably benign	Het
Osmr	G	A	15: 6,871,529 (GRCm39)	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pfkp	C	T	13: 6,647,951 (GRCm39)	V542M	probably damaging	Het
Pmpca	C	T	2: 26,285,581 (GRCm39)	S519L	probably benign	Het
Ptgds	A	T	2: 25,359,124 (GRCm39)	Y44N	probably damaging	Het
Raly	T	A	2: 154,701,849 (GRCm39)	Y116*	probably null	Het
Rock2	A	G	12: 17,015,530 (GRCm39)	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,756,242 (GRCm39)	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,254,083 (GRCm39)	D673G	probably benign	Het
Spire2	A	T	8: 124,059,703 (GRCm39)	D67V	probably damaging	Het
St7l	T	C	3: 104,829,597 (GRCm39)		probably null	Het
Tefm	A	G	11: 80,030,915 (GRCm39)	L107S	probably damaging	Het
Ticam1	A	T	17: 56,577,019 (GRCm39)	V692D	unknown	Het
Tipin	T	A	9: 64,201,631 (GRCm39)	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,613,441 (GRCm39)	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,707,213 (GRCm39)	M1L	unknown	Het
Ttn	C	A	2: 76,569,141 (GRCm39)	V27251F	probably damaging	Het
Uvrag	A	T	7: 98,653,896 (GRCm39)	C31*	probably null	Het
Zap70	T	C	1: 36,810,267 (GRCm39)	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,785,965 (GRCm39)	V194A	probably benign	Het
Zfp663	C	T	2: 165,200,968 (GRCm39)	W22*	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
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

2015-04-16