Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Auts2'

59389

Institutional Source

Beutler Lab

Gene Symbol

Auts2

Ensembl Gene

ENSMUSG00000029673

Gene Name

autism susceptibility candidate 2

Synonyms

D830032G16Rik, A730011F23Rik, 2700063G02Rik

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0032 (G1) of strain 731

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131466171-132572059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 131468931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 571 (D571E)

Ref Sequence

ENSEMBL: ENSMUSP00000124730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161374] [ENSMUST00000161804] [ENSMUST00000187544]

AlphaFold

A0A087WPF7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160071

SMART Domains

Protein: ENSMUSP00000125349
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	194	406	2.3e-108	PFAM
low complexity region	433	446	N/A	INTRINSIC
low complexity region	555	565	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	763	779	N/A	INTRINSIC

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

probably damaging
Transcript: ENSMUST00000161374
AA Change: D571E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: D571E

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	172	384	1.5e-112	PFAM
low complexity region	411	424	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC
low complexity region	741	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161804
AA Change: D586E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: D586E

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	187	399	3.9e-113	PFAM
low complexity region	426	439	N/A	INTRINSIC
low complexity region	548	558	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	756	772	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182974

Predicted Effect

probably benign
Transcript: ENSMUST00000187544
AA Change: D795E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: D795E

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	83	125	N/A	INTRINSIC
low complexity region	127	161	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC
low complexity region	212	224	N/A	INTRINSIC
low complexity region	276	293	N/A	INTRINSIC
low complexity region	301	314	N/A	INTRINSIC
Pfam:Auts2	396	608	4.3e-109	PFAM
low complexity region	635	648	N/A	INTRINSIC
low complexity region	757	767	N/A	INTRINSIC
low complexity region	823	838	N/A	INTRINSIC
low complexity region	965	981	N/A	INTRINSIC

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,231,472 (GRCm39)	F9L	probably damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Ccbe1	T	G	18: 66,424,723 (GRCm39)	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,644,469 (GRCm39)	T202K	possibly damaging	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,799,579 (GRCm39)	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,866,452 (GRCm39)	G327D	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Clca3a2	T	A	3: 144,522,494 (GRCm39)	I176F	probably benign	Het
Cop1	T	C	1: 159,152,606 (GRCm39)		probably null	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Des	A	G	1: 75,338,810 (GRCm39)	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Epb41l3	G	T	17: 69,517,379 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Galnt16	T	C	12: 80,639,243 (GRCm39)	V419A	probably damaging	Het
Gm10226	A	G	17: 21,910,963 (GRCm39)	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,431,199 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Impdh2	A	G	9: 108,438,860 (GRCm39)	D71G	probably damaging	Het
Ipo11	A	C	13: 106,970,971 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,450,089 (GRCm39)	D145G	possibly damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Junb	T	C	8: 85,704,415 (GRCm39)	H215R	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,427,972 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,702,487 (GRCm39)	S459G	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Meis3	C	A	7: 15,916,210 (GRCm39)		probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,439,745 (GRCm39)	E341K	probably benign	Het
Nbeal2	G	T	9: 110,466,936 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Or10al2	T	A	17: 37,983,378 (GRCm39)	W155R	probably damaging	Het
Or6c210	T	A	10: 129,496,269 (GRCm39)	V198D	probably benign	Het
Or8c13	A	G	9: 38,091,904 (GRCm39)	C72R	probably damaging	Het
Otog	T	A	7: 45,937,637 (GRCm39)	L1782*	probably null	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Ppp2r1a	G	A	17: 21,165,846 (GRCm39)		probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Setmar	T	A	6: 108,053,377 (GRCm39)	C290*	probably null	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slc4a5	T	A	6: 83,250,139 (GRCm39)	I509N	probably damaging	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Sycn	C	T	7: 28,240,717 (GRCm39)	A128V	possibly damaging	Het
Synm	C	A	7: 67,383,675 (GRCm39)	R1329M	possibly damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tcp10a	T	C	17: 7,604,306 (GRCm39)	M247T	probably benign	Het
Tjp2	A	G	19: 24,086,059 (GRCm39)	L821S	probably damaging	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trim34b	A	G	7: 103,985,784 (GRCm39)	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Trpm5	A	T	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Tuba8	A	T	6: 121,202,863 (GRCm39)	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,084,782 (GRCm39)	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,665,194 (GRCm39)	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,016,858 (GRCm39)	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,049,157 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het
Znhit1	G	C	5: 137,013,901 (GRCm39)	R8G	possibly damaging	Het

Other mutations in Auts2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Auts2	APN	5	131,469,056 (GRCm39)	missense	probably benign	0.00
IGL01751:Auts2	APN	5	131,501,198 (GRCm39)	missense	probably damaging	0.99
IGL02070:Auts2	APN	5	131,499,259 (GRCm39)	missense	probably damaging	1.00
R0033:Auts2	UTSW	5	131,468,931 (GRCm39)	missense	probably damaging	1.00
R0046:Auts2	UTSW	5	131,799,624 (GRCm39)	exon	noncoding transcript
R0399:Auts2	UTSW	5	131,469,362 (GRCm39)	missense	probably benign	0.37
R0412:Auts2	UTSW	5	131,475,669 (GRCm39)	missense	probably benign	0.02
R0551:Auts2	UTSW	5	131,469,307 (GRCm39)	missense	possibly damaging	0.75
R1536:Auts2	UTSW	5	131,516,302 (GRCm39)	intron	probably benign
R1573:Auts2	UTSW	5	131,469,325 (GRCm39)	missense	probably damaging	1.00
R1789:Auts2	UTSW	5	131,501,288 (GRCm39)	missense	probably damaging	1.00
R1912:Auts2	UTSW	5	131,472,412 (GRCm39)	missense	probably damaging	1.00
R2431:Auts2	UTSW	5	132,287,887 (GRCm39)	nonsense	probably null
R3745:Auts2	UTSW	5	131,505,425 (GRCm39)	utr 5 prime	probably benign
R4290:Auts2	UTSW	5	131,503,809 (GRCm39)	missense	probably damaging	1.00
R4575:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4576:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4578:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4623:Auts2	UTSW	5	131,469,221 (GRCm39)	missense	probably benign	0.25
R4632:Auts2	UTSW	5	131,501,113 (GRCm39)	missense	probably damaging	1.00
R4663:Auts2	UTSW	5	131,468,476 (GRCm39)	missense	probably damaging	1.00
R4835:Auts2	UTSW	5	131,494,931 (GRCm39)	missense	probably damaging	1.00
R4881:Auts2	UTSW	5	131,501,288 (GRCm39)	missense	probably damaging	1.00
R5030:Auts2	UTSW	5	131,472,336 (GRCm39)	missense	probably benign	0.00
R5032:Auts2	UTSW	5	131,505,730 (GRCm39)	utr 5 prime	probably benign
R5078:Auts2	UTSW	5	132,287,786 (GRCm39)	missense	possibly damaging	0.85
R5093:Auts2	UTSW	5	131,468,296 (GRCm39)	missense	probably damaging	0.99
R5182:Auts2	UTSW	5	131,503,919 (GRCm39)	missense	probably null	0.01
R5305:Auts2	UTSW	5	131,472,632 (GRCm39)	intron	probably benign
R5429:Auts2	UTSW	5	131,501,173 (GRCm39)	missense	probably damaging	1.00
R5601:Auts2	UTSW	5	131,505,662 (GRCm39)	utr 5 prime	probably benign
R5725:Auts2	UTSW	5	131,468,584 (GRCm39)	missense	probably benign	0.35
R5990:Auts2	UTSW	5	131,505,734 (GRCm39)	utr 5 prime	probably benign
R6074:Auts2	UTSW	5	131,505,828 (GRCm39)	utr 5 prime	probably benign
R6130:Auts2	UTSW	5	131,469,061 (GRCm39)	missense	probably damaging	1.00
R6321:Auts2	UTSW	5	131,494,953 (GRCm39)	missense	probably damaging	1.00
R6974:Auts2	UTSW	5	131,469,437 (GRCm39)	missense	probably benign	0.01
R7000:Auts2	UTSW	5	131,469,056 (GRCm39)	missense	probably benign	0.01
R7014:Auts2	UTSW	5	131,494,961 (GRCm39)	missense	probably damaging	1.00
R7154:Auts2	UTSW	5	131,480,731 (GRCm39)	missense
R7812:Auts2	UTSW	5	131,501,284 (GRCm39)	missense
R7922:Auts2	UTSW	5	131,469,211 (GRCm39)	missense
R8159:Auts2	UTSW	5	131,488,963 (GRCm39)	critical splice donor site	probably null
R8553:Auts2	UTSW	5	131,468,981 (GRCm39)	missense	probably benign	0.00
R8873:Auts2	UTSW	5	131,472,502 (GRCm39)	missense
R8970:Auts2	UTSW	5	132,287,791 (GRCm39)	missense	possibly damaging	0.52
R9348:Auts2	UTSW	5	131,490,155 (GRCm39)	missense
R9500:Auts2	UTSW	5	131,505,620 (GRCm39)	missense	unknown
Z1088:Auts2	UTSW	5	131,505,392 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAATCATGAGGCTCCCTGTCCC -3'
(R):5'- AGATCACGACCTACCTACTGAGGC -3'

Sequencing Primer
(F):5'- TCGGCTTCATACAACCGGG -3'
(R):5'- TACCTACTGAGGCCCCCC -3'

Posted On

2013-07-11