Incidental Mutation 'R1536:Auts2'
ID 169522
Institutional Source Beutler Lab
Gene Symbol Auts2
Ensembl Gene ENSMUSG00000029673
Gene Name autism susceptibility candidate 2
Synonyms D830032G16Rik, 2700063G02Rik, A730011F23Rik
MMRRC Submission 039575-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1536 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 131437333-132543344 bp(-) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) C to T at 131487463 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161374] [ENSMUST00000161804]
AlphaFold A0A087WPF7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160071
SMART Domains Protein: ENSMUSP00000125349
Gene: ENSMUSG00000029673

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000178463
AA Change: G140E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183153
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,970,665 (GRCm38) I3F probably benign Het
4930590J08Rik A G 6: 91,917,035 (GRCm38) N211S probably benign Het
A2ml1 A T 6: 128,547,233 (GRCm38) Y1145* probably null Het
Abca7 A G 10: 80,014,230 (GRCm38) D1972G probably benign Het
Adamts19 A T 18: 59,052,615 (GRCm38) D1187V probably damaging Het
Adcy6 G C 15: 98,600,007 (GRCm38) I421M probably damaging Het
Afap1 C A 5: 35,974,491 (GRCm38) H387Q probably damaging Het
Atp8b1 C T 18: 64,545,264 (GRCm38) V854M probably damaging Het
Cbll1 T C 12: 31,487,856 (GRCm38) D300G probably damaging Het
Cd200r4 A T 16: 44,833,049 (GRCm38) T61S possibly damaging Het
Chmp4c G T 3: 10,389,684 (GRCm38) V207L probably benign Het
Cntn5 T C 9: 9,976,316 (GRCm38) T413A possibly damaging Het
Cox7a2 T A 9: 79,758,581 (GRCm38) probably null Het
Cwc27 A G 13: 104,797,306 (GRCm38) L236P probably damaging Het
Diaph1 A G 18: 37,896,093 (GRCm38) probably null Het
Dst T A 1: 34,260,372 (GRCm38) probably benign Het
Ear1 T A 14: 43,819,126 (GRCm38) H95L probably damaging Het
Enpp1 T A 10: 24,641,834 (GRCm38) H898L probably benign Het
Entpd5 G A 12: 84,382,295 (GRCm38) R321* probably null Het
Ercc6l2 C A 13: 63,824,871 (GRCm38) N177K possibly damaging Het
Ergic1 T C 17: 26,641,706 (GRCm38) probably null Het
Erich6 A T 3: 58,626,598 (GRCm38) I336N probably benign Het
Fmnl2 A G 2: 53,105,537 (GRCm38) E424G probably damaging Het
Galnt3 A T 2: 66,084,206 (GRCm38) D622E probably damaging Het
Gjd4 T A 18: 9,280,569 (GRCm38) T170S probably damaging Het
Gm5611 G A 9: 17,030,607 (GRCm38) noncoding transcript Het
Gpc5 T A 14: 115,399,250 (GRCm38) N448K probably benign Het
Klra3 G C 6: 130,333,144 (GRCm38) R138G probably benign Het
Man2b2 T C 5: 36,820,927 (GRCm38) T338A probably benign Het
Mbtps1 A T 8: 119,546,125 (GRCm38) S94T probably benign Het
Muc3a A T 5: 137,210,081 (GRCm38) S205T unknown Het
Nav2 C A 7: 49,545,934 (GRCm38) D1019E probably damaging Het
Neurl4 T A 11: 69,903,426 (GRCm38) L236* probably null Het
Olfr272 A G 4: 52,911,260 (GRCm38) V178A probably benign Het
Plcxd3 T C 15: 4,516,611 (GRCm38) probably benign Het
Pprc1 T C 19: 46,071,526 (GRCm38) probably benign Het
Prkaa2 T A 4: 105,075,450 (GRCm38) N67I probably damaging Het
Prom1 T A 5: 44,018,353 (GRCm38) Y508F probably benign Het
Prx A G 7: 27,517,258 (GRCm38) M534V probably damaging Het
Rps6kc1 C T 1: 190,871,768 (GRCm38) R219Q possibly damaging Het
Sbf2 T C 7: 110,378,043 (GRCm38) Y628C probably damaging Het
Slc1a2 A T 2: 102,777,510 (GRCm38) D501V probably benign Het
Spata31 A T 13: 64,921,382 (GRCm38) Q448L probably damaging Het
Stk35 T C 2: 129,811,235 (GRCm38) probably benign Het
Stxbp5 T A 10: 9,838,092 (GRCm38) R234S probably damaging Het
Tifab A G 13: 56,176,288 (GRCm38) V114A probably benign Het
Tiprl A G 1: 165,228,406 (GRCm38) M49T probably benign Het
Tlr12 A G 4: 128,617,752 (GRCm38) L235P possibly damaging Het
Tmem57 A G 4: 134,804,507 (GRCm38) V617A probably damaging Het
Trim43b A T 9: 89,085,358 (GRCm38) C407* probably null Het
Txndc17 C A 11: 72,207,707 (GRCm38) F28L probably damaging Het
Vmn2r27 T C 6: 124,200,690 (GRCm38) R452G probably damaging Het
Vmn2r3 T A 3: 64,275,117 (GRCm38) D387V probably damaging Het
Vps13b T C 15: 35,875,566 (GRCm38) I2699T probably damaging Het
Zfp944 G T 17: 22,339,716 (GRCm38) Y183* probably null Het
Other mutations in Auts2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Auts2 APN 5 131,440,218 (GRCm38) missense probably benign 0.00
IGL01751:Auts2 APN 5 131,472,360 (GRCm38) missense probably damaging 0.99
IGL02070:Auts2 APN 5 131,470,421 (GRCm38) missense probably damaging 1.00
R0032:Auts2 UTSW 5 131,440,093 (GRCm38) missense probably damaging 1.00
R0033:Auts2 UTSW 5 131,440,093 (GRCm38) missense probably damaging 1.00
R0046:Auts2 UTSW 5 131,770,785 (GRCm38) exon noncoding transcript
R0399:Auts2 UTSW 5 131,440,524 (GRCm38) missense probably benign 0.37
R0412:Auts2 UTSW 5 131,446,831 (GRCm38) missense probably benign 0.02
R0551:Auts2 UTSW 5 131,440,469 (GRCm38) missense possibly damaging 0.75
R1573:Auts2 UTSW 5 131,440,487 (GRCm38) missense probably damaging 1.00
R1789:Auts2 UTSW 5 131,472,450 (GRCm38) missense probably damaging 1.00
R1912:Auts2 UTSW 5 131,443,574 (GRCm38) missense probably damaging 1.00
R2431:Auts2 UTSW 5 132,259,048 (GRCm38) nonsense probably null
R3745:Auts2 UTSW 5 131,476,587 (GRCm38) utr 5 prime probably benign
R4290:Auts2 UTSW 5 131,474,971 (GRCm38) missense probably damaging 1.00
R4575:Auts2 UTSW 5 132,258,934 (GRCm38) missense probably benign 0.17
R4576:Auts2 UTSW 5 132,258,934 (GRCm38) missense probably benign 0.17
R4578:Auts2 UTSW 5 132,258,934 (GRCm38) missense probably benign 0.17
R4623:Auts2 UTSW 5 131,440,383 (GRCm38) missense probably benign 0.25
R4632:Auts2 UTSW 5 131,472,275 (GRCm38) missense probably damaging 1.00
R4663:Auts2 UTSW 5 131,439,638 (GRCm38) missense probably damaging 1.00
R4835:Auts2 UTSW 5 131,466,093 (GRCm38) missense probably damaging 1.00
R4881:Auts2 UTSW 5 131,472,450 (GRCm38) missense probably damaging 1.00
R5030:Auts2 UTSW 5 131,443,498 (GRCm38) missense probably benign 0.00
R5032:Auts2 UTSW 5 131,476,891 (GRCm38) utr 5 prime probably benign
R5078:Auts2 UTSW 5 132,258,947 (GRCm38) missense possibly damaging 0.85
R5093:Auts2 UTSW 5 131,439,458 (GRCm38) missense probably damaging 0.99
R5182:Auts2 UTSW 5 131,475,081 (GRCm38) missense probably null 0.01
R5305:Auts2 UTSW 5 131,443,794 (GRCm38) intron probably benign
R5429:Auts2 UTSW 5 131,472,335 (GRCm38) missense probably damaging 1.00
R5601:Auts2 UTSW 5 131,476,823 (GRCm38) utr 5 prime probably benign
R5725:Auts2 UTSW 5 131,439,746 (GRCm38) missense probably benign 0.35
R5990:Auts2 UTSW 5 131,476,895 (GRCm38) utr 5 prime probably benign
R6074:Auts2 UTSW 5 131,476,989 (GRCm38) utr 5 prime probably benign
R6130:Auts2 UTSW 5 131,440,223 (GRCm38) missense probably damaging 1.00
R6321:Auts2 UTSW 5 131,466,115 (GRCm38) missense probably damaging 1.00
R6974:Auts2 UTSW 5 131,440,599 (GRCm38) missense probably benign 0.01
R7000:Auts2 UTSW 5 131,440,218 (GRCm38) missense probably benign 0.01
R7014:Auts2 UTSW 5 131,466,123 (GRCm38) missense probably damaging 1.00
R7154:Auts2 UTSW 5 131,451,893 (GRCm38) missense
R7812:Auts2 UTSW 5 131,472,446 (GRCm38) missense
R7922:Auts2 UTSW 5 131,440,373 (GRCm38) missense
R8159:Auts2 UTSW 5 131,460,125 (GRCm38) critical splice donor site probably null
R8553:Auts2 UTSW 5 131,440,143 (GRCm38) missense probably benign 0.00
R8873:Auts2 UTSW 5 131,443,664 (GRCm38) missense
R8970:Auts2 UTSW 5 132,258,952 (GRCm38) missense possibly damaging 0.52
R9348:Auts2 UTSW 5 131,461,317 (GRCm38) missense
R9500:Auts2 UTSW 5 131,476,781 (GRCm38) missense unknown
Z1088:Auts2 UTSW 5 131,476,554 (GRCm38) splice site probably benign
Predicted Primers PCR Primer
(F):5'- ATGTCTTGTCCCCAACAGCAAGCC -3'
(R):5'- TGTCACGTCCAGCTTCACTATAGCC -3'

Sequencing Primer
(F):5'- TGCATCTATCTCTACACACAGAATG -3'
(R):5'- CCCAGGCCAAGAGCAGTTAG -3'
Posted On 2014-04-13