Incidental Mutation 'R4623:Auts2'
ID 346319
Institutional Source Beutler Lab
Gene Symbol Auts2
Ensembl Gene ENSMUSG00000029673
Gene Name autism susceptibility candidate 2
Synonyms D830032G16Rik, A730011F23Rik, 2700063G02Rik
MMRRC Submission 041888-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4623 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 131466171-132572059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 131469221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 475 (P475S)
Ref Sequence ENSEMBL: ENSMUSP00000124730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161374] [ENSMUST00000161804] [ENSMUST00000187544]
AlphaFold A0A087WPF7
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
AA Change: P475S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: P475S

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
AA Change: P490S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: P490S

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 noncoding transcript
Transcript: ENSMUST00000182575
Predicted Effect probably benign
Transcript: ENSMUST00000187544
AA Change: P699S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: P699S

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: ENSMUST00000182974
Meta Mutation Damage Score 0.0783 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (88/89)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J04Rik T C 12: 11,272,141 (GRCm39) noncoding transcript Het
A930003A15Rik C T 16: 19,702,487 (GRCm39) noncoding transcript Het
Abca13 A G 11: 9,259,130 (GRCm39) Y2952C probably damaging Het
Actrt2 T C 4: 154,751,747 (GRCm39) T130A probably benign Het
Adamts7 T A 9: 90,068,515 (GRCm39) D475E probably benign Het
Adgrf5 A G 17: 43,761,874 (GRCm39) S1190G probably benign Het
Adgrg6 A T 10: 14,317,243 (GRCm39) C526S probably damaging Het
Aldoc T C 11: 78,215,947 (GRCm39) V151A probably damaging Het
Arsj A T 3: 126,158,445 (GRCm39) E8V probably benign Het
Asph T C 4: 9,622,005 (GRCm39) K167E possibly damaging Het
C1d A G 11: 17,212,742 (GRCm39) D29G possibly damaging Het
Calb1 T A 4: 15,895,721 (GRCm39) probably benign Het
Ceacam15 A T 7: 16,407,391 (GRCm39) F42Y probably damaging Het
Cpm A G 10: 117,506,202 (GRCm39) N188D possibly damaging Het
Cts6 A T 13: 61,349,974 (GRCm39) Y36N possibly damaging Het
Cux1 T C 5: 136,337,154 (GRCm39) K657R probably damaging Het
Cyp2a22 G T 7: 26,632,916 (GRCm39) P429T probably damaging Het
Dipk2a T C 9: 94,402,451 (GRCm39) N404D possibly damaging Het
Dock3 T C 9: 106,939,244 (GRCm39) E168G possibly damaging Het
Dot1l A G 10: 80,617,984 (GRCm39) N324S probably benign Het
Dusp13b A C 14: 21,793,546 (GRCm39) probably benign Het
Eif4g1 T A 16: 20,500,095 (GRCm39) probably benign Het
Fan1 G T 7: 64,023,301 (GRCm39) Y121* probably null Het
Foxn4 T C 5: 114,398,991 (GRCm39) E80G possibly damaging Het
Gal3st2c C A 1: 93,937,178 (GRCm39) H374Q possibly damaging Het
Gm973 A T 1: 59,595,435 (GRCm39) I409F probably damaging Het
Gpr18 T A 14: 122,149,579 (GRCm39) T149S probably damaging Het
Gsr A G 8: 34,170,333 (GRCm39) E206G probably damaging Het
Hal A G 10: 93,343,301 (GRCm39) H515R probably damaging Het
Heatr5b A G 17: 79,102,548 (GRCm39) S1277P possibly damaging Het
Hmcn2 A G 2: 31,286,722 (GRCm39) E2125G probably damaging Het
Ikzf4 A G 10: 128,476,988 (GRCm39) C108R probably damaging Het
Kcnh2 A G 5: 24,553,440 (GRCm39) V59A probably benign Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Kif11 A T 19: 37,398,195 (GRCm39) I674L probably benign Het
Lrp1b A T 2: 41,136,033 (GRCm39) C1646S probably damaging Het
Ltbp2 A G 12: 84,856,122 (GRCm39) I707T probably damaging Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Mib1 C A 18: 10,808,086 (GRCm39) N944K probably benign Het
Mical3 C A 6: 120,938,586 (GRCm39) E262* probably null Het
Mms22l C T 4: 24,502,792 (GRCm39) Q55* probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrps11 T C 7: 78,441,689 (GRCm39) probably null Het
Myh8 A G 11: 67,177,084 (GRCm39) E412G probably damaging Het
Myo9a T A 9: 59,778,355 (GRCm39) D1370E probably benign Het
Ncapd2 A G 6: 125,150,572 (GRCm39) V843A probably benign Het
Nell1 A G 7: 49,770,310 (GRCm39) E123G possibly damaging Het
Nkd1 A G 8: 89,316,383 (GRCm39) D213G probably benign Het
Nlrp1b T C 11: 71,052,669 (GRCm39) T920A probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Or6c208 G A 10: 129,223,915 (GRCm39) V138M probably benign Het
Or8k40 T A 2: 86,584,906 (GRCm39) M59L possibly damaging Het
Pde8b C T 13: 95,178,447 (GRCm39) A566T possibly damaging Het
Pds5b T A 5: 150,724,066 (GRCm39) S1214R probably benign Het
Pld1 T C 3: 28,083,393 (GRCm39) I171T probably benign Het
Plekha5 T A 6: 140,496,912 (GRCm39) V154E probably damaging Het
Plxna2 A T 1: 194,494,458 (GRCm39) I1892L probably benign Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Proc T A 18: 32,260,526 (GRCm39) T200S probably benign Het
Psap T G 10: 60,136,630 (GRCm39) C536W probably damaging Het
Ptger2 G A 14: 45,226,471 (GRCm39) R17H possibly damaging Het
Rab42 A G 4: 132,030,504 (GRCm39) F49L possibly damaging Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rdh10 G A 1: 16,201,287 (GRCm39) probably benign Het
Rnft2 T A 5: 118,370,471 (GRCm39) S244C probably damaging Het
Sftpc T C 14: 70,759,718 (GRCm39) probably null Het
Shcbp1 A C 8: 4,789,178 (GRCm39) V547G probably damaging Het
Slc6a13 T C 6: 121,302,104 (GRCm39) S229P probably damaging Het
Soat2 A T 15: 102,066,144 (GRCm39) probably benign Het
Swap70 A G 7: 109,867,079 (GRCm39) K294E probably benign Het
Tcim C A 8: 24,928,725 (GRCm39) R63L probably damaging Het
Tek G A 4: 94,751,898 (GRCm39) V1013I probably damaging Het
Tg T A 15: 66,607,120 (GRCm39) M219K probably benign Het
Tie1 A G 4: 118,343,808 (GRCm39) S45P possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Togaram1 A T 12: 65,029,224 (GRCm39) E882D possibly damaging Het
Tram1l1 T A 3: 124,115,509 (GRCm39) M223K possibly damaging Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Uspl1 T A 5: 149,151,405 (GRCm39) D669E probably damaging Het
Vav1 C A 17: 57,606,839 (GRCm39) probably null Het
Vcl A T 14: 21,065,007 (GRCm39) E634V probably benign Het
Zfp672 A T 11: 58,207,281 (GRCm39) C347S 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
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
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 PCR Primer
(F):5'- CCGATACTGTTCATGGCATGG -3'
(R):5'- GGGGTCATTTGAATACTGAGGCTC -3'

Sequencing Primer
(F):5'- ATGGATGCCAGTCACTCCC -3'
(R):5'- CATTTGAATACTGAGGCTCGTGAG -3'
Posted On 2015-09-25