Incidental Mutation 'R6074:Auts2'
ID 482633
Institutional Source Beutler Lab
Gene Symbol Auts2
Ensembl Gene ENSMUSG00000029673
Gene Name autism susceptibility candidate 2
Synonyms D830032G16Rik, A730011F23Rik, 2700063G02Rik
MMRRC Submission 044235-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6074 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 131466171-132572059 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to T at 131505828 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: H12Q
SMART Domains Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: H12Q

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
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 97% (61/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo1 T A 3: 108,099,009 (GRCm39) C189* probably null Het
Cadps2 C A 6: 23,626,670 (GRCm39) W177L probably damaging Het
Camk2b G T 11: 5,939,635 (GRCm39) P223Q probably damaging Het
Ccdc74a C A 16: 17,464,591 (GRCm39) S9* probably null Het
Ccnt1 A C 15: 98,441,205 (GRCm39) Y688D probably damaging Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ceacam3 C T 7: 16,885,484 (GRCm39) T29I probably benign Het
Cep170b T C 12: 112,710,589 (GRCm39) S1473P probably damaging Het
Col19a1 T A 1: 24,565,564 (GRCm39) T256S unknown Het
Eif2d T A 1: 131,094,079 (GRCm39) D423E probably damaging Het
Fam13a A G 6: 58,966,723 (GRCm39) probably null Het
Gaa G A 11: 119,175,012 (GRCm39) R871H probably benign Het
Galnt12 T A 4: 47,112,405 (GRCm39) V37D probably damaging Het
Glp2r A G 11: 67,637,640 (GRCm39) S13P unknown Het
Gnptab C T 10: 88,268,940 (GRCm39) L548F probably damaging Het
Heg1 C T 16: 33,547,573 (GRCm39) P787S possibly damaging Het
Hivep2 T A 10: 14,007,485 (GRCm39) M1361K probably benign Het
Hivep3 T C 4: 119,954,891 (GRCm39) I1069T possibly damaging Het
Hspg2 A G 4: 137,268,046 (GRCm39) D2121G probably benign Het
Htatip2 A G 7: 49,422,322 (GRCm39) probably null Het
Ighv1-75 T C 12: 115,798,007 (GRCm39) S4G probably benign Het
Ip6k1 A G 9: 107,901,308 (GRCm39) probably benign Het
Kcna6 A G 6: 126,716,242 (GRCm39) S216P probably benign Het
Kif21a T A 15: 90,865,095 (GRCm39) T526S probably benign Het
Kng2 C T 16: 22,819,346 (GRCm39) G230D probably benign Het
Lgi2 A T 5: 52,703,984 (GRCm39) F216I probably benign Het
Lratd1 G A 12: 14,200,512 (GRCm39) H72Y probably benign Het
Lss T A 10: 76,379,693 (GRCm39) N383K probably damaging Het
Mical1 T C 10: 41,362,061 (GRCm39) M929T probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nat8f4 A G 6: 85,878,169 (GRCm39) V118A probably damaging Het
Or10j5 T A 1: 172,784,945 (GRCm39) N194K probably benign Het
Or4p23 A C 2: 88,576,566 (GRCm39) L222R probably damaging Het
Or6b2 G A 1: 92,407,497 (GRCm39) T282M probably benign Het
Osbpl11 T A 16: 33,030,335 (GRCm39) S188T probably benign Het
Pea15a C T 1: 172,026,752 (GRCm39) R85H possibly damaging Het
Ppp1r13b A G 12: 111,798,836 (GRCm39) I919T probably damaging Het
Rasgrf1 A G 9: 89,835,968 (GRCm39) D232G probably benign Het
Rp1 A G 1: 4,415,602 (GRCm39) S1837P probably benign Het
Samd5 T A 10: 9,550,334 (GRCm39) Y125F possibly damaging Het
Skint5 T C 4: 113,662,397 (GRCm39) T597A unknown Het
Slc25a12 A G 2: 71,106,798 (GRCm39) F605L probably benign Het
Slc39a12 C T 2: 14,412,290 (GRCm39) Q321* probably null Het
Slc6a19 T C 13: 73,837,882 (GRCm39) S206G probably benign Het
Tacc2 T A 7: 130,227,165 (GRCm39) H1283Q possibly damaging Het
Thumpd3 A G 6: 113,036,971 (GRCm39) E290G possibly damaging Het
Timd2 C T 11: 46,577,999 (GRCm39) G44D possibly damaging Het
Tmem74 A G 15: 43,730,134 (GRCm39) V303A possibly damaging Het
Tpo A G 12: 30,128,186 (GRCm39) V785A probably benign Het
Tpra1 T A 6: 88,888,919 (GRCm39) I367N possibly damaging Het
Txnrd2 T C 16: 18,256,297 (GRCm39) I95T probably damaging Het
Usp32 A G 11: 84,885,399 (GRCm39) V1216A probably benign Het
Usp54 C A 14: 20,602,167 (GRCm39) M1394I probably benign Het
Vmn2r13 A G 5: 109,322,167 (GRCm39) F177L probably benign Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Wdfy4 C T 14: 32,805,596 (GRCm39) probably null Het
Wnk2 A T 13: 49,204,875 (GRCm39) C458S probably damaging Het
Xkr6 T G 14: 63,844,519 (GRCm39) F181V possibly damaging Het
Zfp212 T A 6: 47,903,986 (GRCm39) C149* probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp661 A G 2: 127,419,793 (GRCm39) S116P probably benign Het
Zfp770 A G 2: 114,026,870 (GRCm39) Y400H possibly 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
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 PCR Primer
(F):5'- CTGTGTACTTGGAGGAGGAAAC -3'
(R):5'- GAATCAAAGTGCTGGGTGGC -3'

Posted On 2017-07-14