Incidental Mutation 'R8873:Auts2'
ID 676415
Institutional Source Beutler Lab
Gene Symbol Auts2
Ensembl Gene ENSMUSG00000029673
Gene Name autism susceptibility candidate 2
Synonyms D830032G16Rik, A730011F23Rik, 2700063G02Rik
MMRRC Submission 068686-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8873 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 131466171-132572059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131472502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 317 (F317L)
Ref Sequence ENSEMBL: ENSMUSP00000124027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161374] [ENSMUST00000161804] [ENSMUST00000187544]
AlphaFold A0A087WPF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000161374
AA Change: F302L

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: F302L

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
SMART Domains Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: F317L

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 probably benign
Transcript: ENSMUST00000162101
Predicted Effect probably benign
Transcript: ENSMUST00000187544
AA Change: F526L

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: F526L

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
Meta Mutation Damage Score 0.2471 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (42/43)
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
Abhd15 C A 11: 77,406,577 (GRCm39) R185S probably damaging Het
Aoah A G 13: 21,089,852 (GRCm39) N157D probably benign Het
Arhgap35 T C 7: 16,295,415 (GRCm39) N1217D possibly damaging Het
Asah2 A T 19: 32,022,288 (GRCm39) probably null Het
Asb2 T C 12: 103,299,725 (GRCm39) N236D probably damaging Het
Cfap74 T C 4: 155,539,465 (GRCm39) I930T unknown Het
Cmip T C 8: 118,103,929 (GRCm39) V51A probably damaging Het
Col15a1 T C 4: 47,247,552 (GRCm39) probably null Het
Cstf3 A T 2: 104,475,355 (GRCm39) H97L possibly damaging Het
Dip2c A T 13: 9,625,182 (GRCm39) M559L probably benign Het
Dnah5 A G 15: 28,219,334 (GRCm39) N51D probably benign Het
Dock4 T A 12: 40,726,767 (GRCm39) Y348* probably null Het
Ehhadh C T 16: 21,581,598 (GRCm39) G465R probably damaging Het
Fam110b C T 4: 5,799,103 (GRCm39) Q174* probably null Het
Fam124a A G 14: 62,844,024 (GRCm39) T511A probably benign Het
Fbxl17 A G 17: 63,691,971 (GRCm39) V528A probably damaging Het
Fbxw24 C A 9: 109,453,996 (GRCm39) W50L probably damaging Het
Fyb2 A T 4: 104,856,538 (GRCm39) E582V probably damaging Het
Ganab G A 19: 8,888,243 (GRCm39) W463* probably null Het
Gm11569 G T 11: 99,689,210 (GRCm39) T163N unknown Het
Gm8237 G T 14: 5,862,453 (GRCm38) Y86* probably null Het
Hrh4 T A 18: 13,140,195 (GRCm39) M30K Het
Ifi209 A G 1: 173,470,156 (GRCm39) Y248C probably damaging Het
Jazf1 T A 6: 52,789,165 (GRCm39) H103L probably damaging Het
Ltbp1 A G 17: 75,486,172 (GRCm39) T66A probably damaging Het
Ndufa4 A G 6: 11,907,360 (GRCm39) L2P probably benign Het
Npnt G A 3: 132,655,816 (GRCm39) probably benign Het
Nrxn1 G T 17: 90,872,821 (GRCm39) C1052* probably null Het
Nsmce4a G T 7: 130,148,886 (GRCm39) A40E unknown Het
Or2t6 A T 14: 14,175,344 (GRCm38) V246E probably damaging Het
Pcdhgb2 T C 18: 37,824,341 (GRCm39) V444A probably damaging Het
Pcdhgb7 C T 18: 37,886,575 (GRCm39) P582S possibly damaging Het
Phf3 T C 1: 30,843,773 (GRCm39) T1729A possibly damaging Het
Plod2 T A 9: 92,489,112 (GRCm39) probably benign Het
Pramel15 G T 4: 144,099,871 (GRCm39) A298E probably benign Het
Rbm20 G T 19: 53,665,911 (GRCm39) V25F probably benign Het
Recql G T 6: 142,308,013 (GRCm39) Q53K Het
Rps18-ps6 T A 13: 97,896,843 (GRCm39) N85I probably damaging Het
Rtel1 CAAA CAA 2: 180,997,816 (GRCm39) probably null Het
Serpine2 A G 1: 79,799,267 (GRCm39) probably benign Het
Siglecg A G 7: 43,067,448 (GRCm39) T672A probably benign Het
Skil T C 3: 31,152,075 (GRCm39) L199P probably damaging Het
Tmprss11f C T 5: 86,692,733 (GRCm39) A64T probably damaging Het
Ttc3 C T 16: 94,243,842 (GRCm39) T1282M probably damaging 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
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
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'- ACTAACGGAGGAGTCTCGTTTATC -3'
(R):5'- TGAGCTGCCTCTACAGTGTAG -3'

Sequencing Primer
(F):5'- ACGGAGGAGTCTCGTTTATCTACATC -3'
(R):5'- ACGAGCGTTCCTCTAATGAG -3'
Posted On 2021-07-15