Incidental Mutation 'R3745:Auts2'
ID 473447
Institutional Source Beutler Lab
Gene Symbol Auts2
Ensembl Gene ENSMUSG00000029673
Gene Name autism susceptibility candidate 2
Synonyms D830032G16Rik, A730011F23Rik, 2700063G02Rik
MMRRC Submission 040731-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3745 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 131466171-132572059 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 131505425 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

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 noncoding transcript
Transcript: ENSMUST00000182575
Predicted Effect unknown
Transcript: ENSMUST00000187544
AA Change: Y146H
SMART Domains Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: Y146H

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182974
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot9 G A X: 154,054,941 (GRCm39) probably benign Het
Akap10 A G 11: 61,806,131 (GRCm39) V199A probably benign Het
Aox4 C T 1: 58,285,029 (GRCm39) H594Y probably damaging Het
Arhgap35 A T 7: 16,297,647 (GRCm39) Y473N probably damaging Het
Aspn G A 13: 49,720,036 (GRCm39) E351K probably damaging Het
Astn1 G T 1: 158,329,630 (GRCm39) A162S probably damaging Het
Atosa T C 9: 74,917,144 (GRCm39) V581A probably benign Het
Cog6 A T 3: 52,900,240 (GRCm39) M507K probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Cyp2d11 A C 15: 82,276,056 (GRCm39) I175S probably benign Het
Dclk1 A G 3: 55,154,863 (GRCm39) N98D possibly damaging Het
Erich5 T A 15: 34,470,878 (GRCm39) C36S probably damaging Het
F5 A G 1: 164,014,348 (GRCm39) I540V possibly damaging Het
Fam20a A T 11: 109,568,616 (GRCm39) S303R probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gbp9 C A 5: 105,253,724 (GRCm39) probably benign Het
Gm6408 G T 5: 146,421,246 (GRCm39) V292F probably damaging Het
Kmt2a A G 9: 44,742,637 (GRCm39) probably benign Het
Lrriq1 T C 10: 103,006,717 (GRCm39) D1136G probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mlkl A G 8: 112,042,199 (GRCm39) probably benign Het
Msantd1 T A 5: 35,080,811 (GRCm39) V155E possibly damaging Het
Myo3b A G 2: 70,064,829 (GRCm39) probably benign Het
Nbn T A 4: 15,976,163 (GRCm39) C375S possibly damaging Het
Nell2 A C 15: 95,330,554 (GRCm39) C231W probably damaging Het
Nipbl A G 15: 8,388,358 (GRCm39) S421P probably benign Het
Npr3 A T 15: 11,905,577 (GRCm39) V50E probably damaging Het
Or4d10 A G 19: 12,051,744 (GRCm39) L84P probably damaging Het
Pclo T C 5: 14,728,435 (GRCm39) probably benign Het
Pkn3 A G 2: 29,980,353 (GRCm39) K785R probably damaging Het
Ppef2 T A 5: 92,387,010 (GRCm39) probably benign Het
Prdm10 T C 9: 31,251,703 (GRCm39) I357T possibly damaging Het
Prrc2c G A 1: 162,525,754 (GRCm39) T284I unknown Het
Psma3 T C 12: 71,025,522 (GRCm39) S13P possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rpl6l T C 10: 110,962,226 (GRCm39) noncoding transcript Het
Tex11 A G X: 99,960,178 (GRCm39) V522A probably benign Het
Thsd7b A G 1: 129,605,978 (GRCm39) E573G probably benign Het
Tom1l1 A G 11: 90,548,567 (GRCm39) S259P probably benign Het
Trpm8 A G 1: 88,276,049 (GRCm39) E549G probably benign Het
Vmn1r66 C T 7: 10,008,248 (GRCm39) A262T possibly damaging Het
Zc3h13 T A 14: 75,568,101 (GRCm39) D1131E probably benign Het
Zfp445 A C 9: 122,683,791 (GRCm39) D289E 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
R2431:Auts2 UTSW 5 132,287,887 (GRCm39) nonsense probably null
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 2017-04-14