Mutagenetix > Incidental Mutations

Incidental Mutation 'R2431:Auts2'

476364

Institutional Source

Beutler Lab

Gene Symbol

Auts2

Ensembl Gene

ENSMUSG00000029673

Gene Name

autism susceptibility candidate 2

Synonyms

D830032G16Rik, 2700063G02Rik, A730011F23Rik

MMRRC Submission

040392-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131437333-132543344 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 132259048 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 32 (L32*)

Ref Sequence

ENSEMBL: ENSMUSP00000125706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160135]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000071591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100564

Predicted Effect

probably null
Transcript: ENSMUST00000160135
AA Change: L32*

SMART Domains

Protein: ENSMUSP00000125706
Gene: ENSMUSG00000029673
AA Change: L32*

Domain	Start	End	E-Value	Type
low complexity region	32	49	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161226

SMART Domains

Protein: ENSMUSP00000124900
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	11	45	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
low complexity region	133	150	N/A	INTRINSIC
low complexity region	199	214	N/A	INTRINSIC
low complexity region	297	315	N/A	INTRINSIC
low complexity region	330	355	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182974

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	T	C	11: 97,452,404	V504A	probably benign	Het
Atr	T	G	9: 95,862,892	N87K	probably benign	Het
Bptf	A	G	11: 107,047,240	V2675A	possibly damaging	Het
Brdt	C	T	5: 107,378,015		probably null	Het
Ccdc162	T	C	10: 41,569,845	K444E	probably benign	Het
Cnot1	T	C	8: 95,774,652	D96G	probably damaging	Het
Cpq	C	A	15: 33,594,119	Y425*	probably null	Het
Eri1	A	G	8: 35,476,478	Y221H	probably damaging	Het
Fbln2	A	G	6: 91,269,973	E1065G	probably damaging	Het
Focad	T	C	4: 88,331,027	V837A	unknown	Het
Ica1	G	A	6: 8,658,265	T284I	probably benign	Het
Isg15	C	T	4: 156,200,701		probably null	Het
Ltbp4	T	C	7: 27,319,676	T1073A	possibly damaging	Het
Mmp16	A	T	4: 18,054,491	R332S	probably benign	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Olfr1444	T	C	19: 12,862,606	V277A	probably damaging	Het
Olfr447	T	C	6: 42,912,012	L163S	probably damaging	Het
Olfr703	T	C	7: 106,845,391	V260A	possibly damaging	Het
Olfr834	A	G	9: 18,988,003	N5S	probably damaging	Het
Piezo2	T	C	18: 63,245,624	H78R	possibly damaging	Het
Pkd1l1	T	C	11: 8,947,197	N121D	probably damaging	Het
Pkhd1	T	C	1: 20,201,165	T3055A	possibly damaging	Het
Ppp5c	C	T	7: 17,015,425	V160M	probably damaging	Het
Ptpn23	G	A	9: 110,386,279	R1438*	probably null	Het
Ptpro	G	A	6: 137,443,585	W183*	probably null	Het
Pygm	T	C	19: 6,393,785	M592T	probably damaging	Het
Qdpr	A	G	5: 45,444,730	V68A	probably damaging	Het
Rfc5	A	C	5: 117,385,458	S92A	probably damaging	Het
Ripor3	T	C	2: 167,989,795	Q362R	probably benign	Het
Ror1	G	A	4: 100,441,155	C575Y	probably damaging	Het
Skint9	T	A	4: 112,389,267	D216V	probably damaging	Het
Sox6	T	C	7: 115,550,007		probably null	Het
Ugp2	A	T	11: 21,329,025	V387D	probably damaging	Het
Umodl1	T	C	17: 30,992,088	S747P	possibly damaging	Het
Vtcn1	A	T	3: 100,825,577	I7F	possibly damaging	Het
Zfp507	C	T	7: 35,795,402	R72H	probably benign	Het

Other mutations in Auts2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Auts2	APN	5	131440218	missense	probably benign	0.00
IGL01751:Auts2	APN	5	131472360	missense	probably damaging	0.99
IGL02070:Auts2	APN	5	131470421	missense	probably damaging	1.00
R0032:Auts2	UTSW	5	131440093	missense	probably damaging	1.00
R0033:Auts2	UTSW	5	131440093	missense	probably damaging	1.00
R0046:Auts2	UTSW	5	131770785	exon	noncoding transcript
R0399:Auts2	UTSW	5	131440524	missense	probably benign	0.37
R0412:Auts2	UTSW	5	131446831	missense	probably benign	0.02
R0551:Auts2	UTSW	5	131440469	missense	possibly damaging	0.75
R1536:Auts2	UTSW	5	131487463	intron	probably benign
R1573:Auts2	UTSW	5	131440487	missense	probably damaging	1.00
R1789:Auts2	UTSW	5	131472450	missense	probably damaging	1.00
R1912:Auts2	UTSW	5	131443574	missense	probably damaging	1.00
R3745:Auts2	UTSW	5	131476587	utr 5 prime	probably benign
R4290:Auts2	UTSW	5	131474971	missense	probably damaging	1.00
R4575:Auts2	UTSW	5	132258934	missense	probably benign	0.17
R4576:Auts2	UTSW	5	132258934	missense	probably benign	0.17
R4578:Auts2	UTSW	5	132258934	missense	probably benign	0.17
R4623:Auts2	UTSW	5	131440383	missense	probably benign	0.25
R4632:Auts2	UTSW	5	131472275	missense	probably damaging	1.00
R4663:Auts2	UTSW	5	131439638	missense	probably damaging	1.00
R4835:Auts2	UTSW	5	131466093	missense	probably damaging	1.00
R4881:Auts2	UTSW	5	131472450	missense	probably damaging	1.00
R5030:Auts2	UTSW	5	131443498	missense	probably benign	0.00
R5032:Auts2	UTSW	5	131476891	utr 5 prime	probably benign
R5078:Auts2	UTSW	5	132258947	missense	possibly damaging	0.85
R5093:Auts2	UTSW	5	131439458	missense	probably damaging	0.99
R5182:Auts2	UTSW	5	131475081	missense	probably null	0.01
R5305:Auts2	UTSW	5	131443794	intron	probably benign
R5429:Auts2	UTSW	5	131472335	missense	probably damaging	1.00
R5601:Auts2	UTSW	5	131476823	utr 5 prime	probably benign
R5725:Auts2	UTSW	5	131439746	missense	probably benign	0.35
R5990:Auts2	UTSW	5	131476895	utr 5 prime	probably benign
R6074:Auts2	UTSW	5	131476989	utr 5 prime	probably benign
R6130:Auts2	UTSW	5	131440223	missense	probably damaging	1.00
R6321:Auts2	UTSW	5	131466115	missense	probably damaging	1.00
R6974:Auts2	UTSW	5	131440599	missense	probably benign	0.01
R7000:Auts2	UTSW	5	131440218	missense	probably benign	0.01
R7014:Auts2	UTSW	5	131466123	missense	probably damaging	1.00
R7154:Auts2	UTSW	5	131451893	missense
R7812:Auts2	UTSW	5	131472446	missense
R7922:Auts2	UTSW	5	131440373	missense
R8159:Auts2	UTSW	5	131460125	critical splice donor site	probably null
R8553:Auts2	UTSW	5	131440143	missense	probably benign	0.00
Z1088:Auts2	UTSW	5	131476554	splice site	probably benign

Predicted Primers

Posted On

2017-05-11