Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Auts2'

481935

Institutional Source

Beutler Lab

Gene Symbol

Auts2

Ensembl Gene

ENSMUSG00000029673

Gene Name

autism susceptibility candidate 2

Synonyms

D830032G16Rik, A730011F23Rik, 2700063G02Rik

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131466171-132572059 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to A at 131505734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124027 (fasta)

Gene Model

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

AlphaFold

A0A087WPF7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159507

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 benign
Transcript: ENSMUST00000161374

SMART Domains

Protein: ENSMUSP00000124730
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	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

SMART Domains

Protein: ENSMUSP00000124027
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	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

noncoding transcript
Transcript: ENSMUST00000182575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182974

Predicted Effect

unknown
Transcript: ENSMUST00000187544
AA Change: P44S

SMART Domains

Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: P44S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183153

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,285,123 (GRCm39)	M11L	probably benign	Het
Acad10	A	G	5: 121,783,468 (GRCm39)	L319P	probably damaging	Het
Adam12	C	A	7: 133,533,465 (GRCm39)	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,243,146 (GRCm39)	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,361,531 (GRCm39)	T797M	possibly damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Ccdc146	A	G	5: 21,523,180 (GRCm39)	S286P	probably benign	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Cmtr1	T	C	17: 29,921,135 (GRCm39)	Y794H	probably benign	Het
Copb2	A	G	9: 98,452,378 (GRCm39)	E54G	probably damaging	Het
Ctsk	A	T	3: 95,408,767 (GRCm39)	H77L	probably damaging	Het
Dnah3	T	C	7: 119,672,764 (GRCm39)	Y546C	probably benign	Het
Ephb2	A	T	4: 136,423,366 (GRCm39)	V304E	probably benign	Het
Ern1	C	T	11: 106,302,595 (GRCm39)	V420I	probably benign	Het
Esrrg	A	T	1: 187,930,995 (GRCm39)	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960 (GRCm39)	F189V	probably damaging	Het
Foxl1	G	T	8: 121,855,160 (GRCm39)	A154S	probably damaging	Het
Frs3	A	G	17: 48,012,602 (GRCm39)	D103G	possibly damaging	Het
Gdpd4	A	G	7: 97,690,137 (GRCm39)	T610A	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm4847	C	T	1: 166,470,942 (GRCm39)	S36N	probably benign	Het
Grm8	G	T	6: 27,363,623 (GRCm39)	L631I	probably damaging	Het
Ints9	T	A	14: 65,276,777 (GRCm39)	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,774,885 (GRCm39)	H647R	probably damaging	Het
Kcnq1	T	A	7: 142,815,105 (GRCm39)	H501Q	probably damaging	Het
Kctd20	T	C	17: 29,185,884 (GRCm39)	L409P	probably benign	Het
Kiss1r	A	G	10: 79,754,541 (GRCm39)	T12A	probably benign	Het
Kndc1	T	A	7: 139,507,333 (GRCm39)	V1173E	probably damaging	Het
Kprp	T	C	3: 92,732,081 (GRCm39)	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,662,441 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,391,784 (GRCm39)	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,817,707 (GRCm39)	G228D	probably damaging	Het
Muc16	G	A	9: 18,570,539 (GRCm39)	A660V	unknown	Het
Muc5b	T	C	7: 141,411,898 (GRCm39)	C1615R	unknown	Het
Nans	A	T	4: 46,489,441 (GRCm39)	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,448,418 (GRCm39)	S207L	possibly damaging	Het
Nrdc	T	G	4: 108,876,268 (GRCm39)	F355V	probably damaging	Het
Nrip2	C	T	6: 128,376,979 (GRCm39)		probably benign	Het
Nufip1	C	T	14: 76,351,628 (GRCm39)	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,049,071 (GRCm39)	H114Y	possibly damaging	Het
Opa1	T	A	16: 29,405,836 (GRCm39)	W134R	probably damaging	Het
Or4k45	T	A	2: 111,395,019 (GRCm39)	I257F	probably damaging	Het
Or8a1b	G	T	9: 37,623,406 (GRCm39)	H56Q	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Patl2	T	C	2: 121,954,965 (GRCm39)	D361G	probably damaging	Het
Pcx	A	G	19: 4,671,294 (GRCm39)	D1172G	probably damaging	Het
Phax	A	G	18: 56,708,675 (GRCm39)	T58A	probably benign	Het
Phf11b	T	A	14: 59,562,375 (GRCm39)	I177L	possibly damaging	Het
Pole	T	A	5: 110,450,010 (GRCm39)	V819D	probably damaging	Het
Poll	T	C	19: 45,541,594 (GRCm39)	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,386,602 (GRCm39)		probably null	Het
Ppp1r9a	C	A	6: 5,134,660 (GRCm39)	H928N	probably benign	Het
Prdm2	T	C	4: 142,896,683 (GRCm39)	N102D	probably damaging	Het
Rbm45	A	T	2: 76,200,756 (GRCm39)	D95V	probably benign	Het
Rdh19	A	G	10: 127,695,463 (GRCm39)	M226V	probably benign	Het
Rev3l	T	G	10: 39,699,807 (GRCm39)	S1435A	probably benign	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rhobtb2	T	C	14: 70,033,818 (GRCm39)	N469S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,593,708 (GRCm39)	I177T	probably damaging	Het
Samd12	T	A	15: 53,583,019 (GRCm39)	D105V	probably damaging	Het
Setd3	A	T	12: 108,126,594 (GRCm39)	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,584,192 (GRCm39)	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,014,627 (GRCm39)	A195S	possibly damaging	Het
Smcp	C	A	3: 92,491,557 (GRCm39)	A97S	unknown	Het
Stxbp5	G	A	10: 9,711,677 (GRCm39)	H248Y	probably damaging	Het
Syne2	T	C	12: 76,070,918 (GRCm39)	L4457P	probably benign	Het
Tbx3	A	G	5: 119,818,594 (GRCm39)	T390A	probably benign	Het
Tmeff2	G	A	1: 51,018,601 (GRCm39)	W194*	probably null	Het
Tmem120b	G	A	5: 123,242,544 (GRCm39)	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,545 (GRCm39)	V402A	probably benign	Het
Ttll2	C	A	17: 7,619,766 (GRCm39)	G54W	possibly damaging	Het
Uba7	G	A	9: 107,858,433 (GRCm39)	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,482,809 (GRCm39)	E55G	probably damaging	Het
Wdr35	A	G	12: 9,066,511 (GRCm39)	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,267,293 (GRCm39)	V381M	probably damaging	Het
Zdhhc11	T	A	13: 74,127,303 (GRCm39)	W227R	probably benign	Het
Zfp341	T	C	2: 154,487,579 (GRCm39)	S681P	probably damaging	Het
Zfp735	T	A	11: 73,581,174 (GRCm39)	D70E	possibly damaging	Het
Zmat4	G	A	8: 24,419,279 (GRCm39)	A104T	probably 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
R0032:Auts2	UTSW	5	131,468,931 (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
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'- TACTGCTGTTGTAGGCCGAC -3'
(R):5'- ACAGTGTGCTTGTCCTCTG -3'

Sequencing Primer
(F):5'- GACAGTGGCTGTGAGAGGCTC -3'
(R):5'- AGTGTGCTTGTCCTCTGTGTCC -3'

Posted On

2017-06-26