Incidental Mutation 'R2431:Auts2'
ID 476364
Institutional Source Beutler Lab
Gene Symbol Auts2
Ensembl Gene ENSMUSG00000029673
Gene Name autism susceptibility candidate 2
Synonyms D830032G16Rik, A730011F23Rik, 2700063G02Rik
MMRRC Submission 040392-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2431 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 131466171-132572059 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 132287887 bp (GRCm39)
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]
AlphaFold A0A087WPF7
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*

DomainStartEndE-ValueType
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 T C 11: 97,343,230 (GRCm39) V504A probably benign Het
Atr T G 9: 95,744,945 (GRCm39) N87K probably benign Het
Bptf A G 11: 106,938,066 (GRCm39) V2675A possibly damaging Het
Brdt C T 5: 107,525,881 (GRCm39) probably null Het
Ccdc162 T C 10: 41,445,841 (GRCm39) K444E probably benign Het
Cnot1 T C 8: 96,501,280 (GRCm39) D96G probably damaging Het
Cpq C A 15: 33,594,265 (GRCm39) Y425* probably null Het
Eri1 A G 8: 35,943,632 (GRCm39) Y221H probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Focad T C 4: 88,249,264 (GRCm39) V837A unknown Het
Ica1 G A 6: 8,658,265 (GRCm39) T284I probably benign Het
Isg15 C T 4: 156,285,158 (GRCm39) probably null Het
Ltbp4 T C 7: 27,019,101 (GRCm39) T1073A possibly damaging Het
Mmp16 A T 4: 18,054,491 (GRCm39) R332S probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or2a25 T C 6: 42,888,946 (GRCm39) L163S probably damaging Het
Or2ag19 T C 7: 106,444,598 (GRCm39) V260A possibly damaging Het
Or5b21 T C 19: 12,839,970 (GRCm39) V277A probably damaging Het
Or7g12 A G 9: 18,899,299 (GRCm39) N5S probably damaging Het
Piezo2 T C 18: 63,378,695 (GRCm39) H78R possibly damaging Het
Pkd1l1 T C 11: 8,897,197 (GRCm39) N121D probably damaging Het
Pkhd1 T C 1: 20,271,389 (GRCm39) T3055A possibly damaging Het
Ppp5c C T 7: 16,749,350 (GRCm39) V160M probably damaging Het
Ptpn23 G A 9: 110,215,347 (GRCm39) R1438* probably null Het
Ptpro G A 6: 137,420,583 (GRCm39) W183* probably null Het
Pygm T C 19: 6,443,815 (GRCm39) M592T probably damaging Het
Qdpr A G 5: 45,602,072 (GRCm39) V68A probably damaging Het
Rfc5 A C 5: 117,523,523 (GRCm39) S92A probably damaging Het
Ripor3 T C 2: 167,831,715 (GRCm39) Q362R probably benign Het
Ror1 G A 4: 100,298,352 (GRCm39) C575Y probably damaging Het
Skint9 T A 4: 112,246,464 (GRCm39) D216V probably damaging Het
Sox6 T C 7: 115,149,242 (GRCm39) probably null Het
Ugp2 A T 11: 21,279,025 (GRCm39) V387D probably damaging Het
Umodl1 T C 17: 31,211,062 (GRCm39) S747P possibly damaging Het
Vtcn1 A T 3: 100,732,893 (GRCm39) I7F possibly damaging Het
Zfp507 C T 7: 35,494,827 (GRCm39) R72H probably benign Het
Other mutations in Auts2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2017-05-11