Mutagenetix > Incidental Mutation

Incidental Mutation 'R6974:Auts2'

542344

Institutional Source

Beutler Lab

Gene Symbol

Auts2

Ensembl Gene

ENSMUSG00000029673

Gene Name

autism susceptibility candidate 2

Synonyms

D830032G16Rik, A730011F23Rik, 2700063G02Rik

MMRRC Submission

045084-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131466171-132572059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131469437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 627 (T627A)

Ref Sequence

ENSEMBL: ENSMUSP00000139759 (fasta)

Gene Model

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

AlphaFold

A0A087WPF7

Predicted Effect

probably benign
Transcript: ENSMUST00000161374
AA Change: T403A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: T403A

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

SMART Domains

Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: T418A

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

probably benign
Transcript: ENSMUST00000187544
AA Change: T627A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: T627A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,206,221 (GRCm39)	N67K	probably benign	Het
Amotl1	C	A	9: 14,556,216 (GRCm39)	E37*	probably null	Het
Ap4b1	C	A	3: 103,720,601 (GRCm39)	Y90*	probably null	Het
Apc	A	G	18: 34,431,480 (GRCm39)	E277G	possibly damaging	Het
Atl1	T	A	12: 69,972,813 (GRCm39)	H44Q	probably damaging	Het
Atp6v0b	G	A	4: 117,742,864 (GRCm39)	T74M	probably benign	Het
B4galnt4	T	A	7: 140,647,449 (GRCm39)	I372N	possibly damaging	Het
B4galt2	A	G	4: 117,731,148 (GRCm39)	S338P	probably damaging	Het
Cfap43	A	C	19: 47,773,717 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,362,538 (GRCm39)		probably benign	Het
Col7a1	A	C	9: 108,798,494 (GRCm39)	I1741L	possibly damaging	Het
Coprs	A	T	8: 13,935,750 (GRCm39)	S90T	probably benign	Het
Csrnp3	T	C	2: 65,779,408 (GRCm39)	V40A	possibly damaging	Het
Ephx1	C	A	1: 180,827,287 (GRCm39)		probably null	Het
Erich6	C	A	3: 58,526,220 (GRCm39)	R594L	probably benign	Het
F2rl2	A	T	13: 95,837,038 (GRCm39)	N28Y	probably damaging	Het
Fbxo38	A	T	18: 62,639,740 (GRCm39)	N1041K	possibly damaging	Het
Fcgr2b	C	T	1: 170,790,977 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,809,061 (GRCm39)	N1793K	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcnt3	A	G	9: 69,942,169 (GRCm39)	I133T	probably damaging	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Hoxa1	T	A	6: 52,135,021 (GRCm39)	I61F	probably damaging	Het
Impact	C	T	18: 13,115,169 (GRCm39)	L102F	probably damaging	Het
Ist1	A	T	8: 110,404,284 (GRCm39)	I196N	probably damaging	Het
Kcnv2	T	A	19: 27,311,282 (GRCm39)	S550T	probably benign	Het
Krt1c	A	T	15: 101,726,314 (GRCm39)	S75T	unknown	Het
Krtap21-1	A	G	16: 89,200,466 (GRCm39)	S59P	unknown	Het
Lef1	A	T	3: 130,905,223 (GRCm39)	I35F	probably damaging	Het
Lpcat2	A	C	8: 93,599,707 (GRCm39)	N225T	probably damaging	Het
Lztfl1	A	T	9: 123,538,649 (GRCm39)	N142K	probably benign	Het
Mdh1b	G	A	1: 63,760,975 (GRCm39)	H88Y	probably benign	Het
Mettl26	A	G	17: 26,095,658 (GRCm39)	D171G	probably damaging	Het
Mrps24	A	T	11: 5,654,663 (GRCm39)	M97K	probably benign	Het
Ms4a14	A	T	19: 11,279,499 (GRCm39)	C1020S	probably benign	Het
Mterf1a	A	T	5: 3,940,854 (GRCm39)	I338K	probably benign	Het
Odad2	A	T	18: 7,294,479 (GRCm39)	Y45N	probably benign	Het
Or1e22	A	G	11: 73,377,299 (GRCm39)	I117T	probably benign	Het
Or4p20	T	C	2: 88,254,156 (GRCm39)	Y71C	possibly damaging	Het
Or52s1b	T	A	7: 102,822,442 (GRCm39)	H134L	probably damaging	Het
Or7g12	T	A	9: 18,899,689 (GRCm39)	I135N	probably damaging	Het
Paqr3	T	A	5: 97,256,146 (GRCm39)	H76L	probably damaging	Het
Parp1	T	A	1: 180,417,071 (GRCm39)	Y618*	probably null	Het
Pilrb2	C	T	5: 137,870,049 (GRCm39)		probably benign	Het
Pkm	A	G	9: 59,575,853 (GRCm39)	N90D	probably damaging	Het
Pla2g4c	T	G	7: 13,078,459 (GRCm39)		probably null	Het
Plppr4	C	T	3: 117,116,667 (GRCm39)	V339I	probably damaging	Het
Pnkp	T	A	7: 44,510,462 (GRCm39)	D304E	probably damaging	Het
Pnlip	T	C	19: 58,668,067 (GRCm39)		probably null	Het
Polr2a	A	G	11: 69,638,026 (GRCm39)	C148R	probably damaging	Het
Ppp1r10	G	A	17: 36,240,443 (GRCm39)	G578S	probably benign	Het
Ptges2	C	T	2: 32,287,683 (GRCm39)	T137I	possibly damaging	Het
Ptpre	T	C	7: 135,270,877 (GRCm39)	V344A	possibly damaging	Het
Rag1	A	G	2: 101,472,137 (GRCm39)	F1002L	probably damaging	Het
Rcn2	T	A	9: 55,960,298 (GRCm39)	Y188*	probably null	Het
Rest	A	G	5: 77,416,046 (GRCm39)	S87G	probably damaging	Het
Rgsl1	C	T	1: 153,675,568 (GRCm39)	D913N	probably damaging	Het
Scp2	A	G	4: 107,928,475 (GRCm39)	M1T	probably null	Het
Slamf8	T	A	1: 172,415,590 (GRCm39)	N83Y	probably damaging	Het
Slc26a11	T	A	11: 119,248,844 (GRCm39)	F75Y	possibly damaging	Het
Slc26a5	A	G	5: 22,045,570 (GRCm39)	S133P	probably damaging	Het
Sncb	A	T	13: 54,910,487 (GRCm39)	V83E	probably damaging	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Trim38	A	G	13: 23,973,502 (GRCm39)	N277D	probably benign	Het
Vmn1r189	C	T	13: 22,286,628 (GRCm39)	G70S	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,495 (GRCm39)	R684G	probably benign	Het
Wdr59	T	C	8: 112,187,420 (GRCm39)	N792D	possibly damaging	Het
Wnt5a	A	G	14: 28,244,527 (GRCm39)	D238G	possibly damaging	Het
Zbtb42	C	A	12: 112,646,824 (GRCm39)	T333K	probably damaging	Het
Zfp119b	A	G	17: 56,245,564 (GRCm39)	S509P	probably benign	Het
Zfp365	T	A	10: 67,745,594 (GRCm39)	K61N	probably damaging	Het
Zfp553	T	C	7: 126,835,825 (GRCm39)	F460S	probably damaging	Het
Zfp788	C	T	7: 41,299,301 (GRCm39)	Q594*	probably null	Het
Zfp984	T	A	4: 147,845,707 (GRCm39)	M1L	possibly damaging	Het
Zmiz2	T	A	11: 6,347,566 (GRCm39)	Y291*	probably null	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
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
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'- TTAGGCCTGGTGCTATCCAC -3'
(R):5'- TGCCTCGAGAATCTAGATTAGAGC -3'

Sequencing Primer
(F):5'- GACAGCTGCTTGGGTTCCTC -3'
(R):5'- TGGCTGTCTTCACGCAG -3'

Posted On

2018-11-28