Incidental Mutation 'R0551:Auts2'
ID |
45162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Auts2
|
Ensembl Gene |
ENSMUSG00000029673 |
Gene Name |
autism susceptibility candidate 2 |
Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
MMRRC Submission |
038743-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0551 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131469307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 446
(E446G)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000161374
AA Change: E446G
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124730 Gene: ENSMUSG00000029673 AA Change: E446G
Domain | Start | End | E-Value | Type |
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: E461G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124027 Gene: ENSMUSG00000029673 AA Change: E461G
Domain | Start | End | E-Value | Type |
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: ENSMUST00000162979
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182575
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187544
AA Change: E670G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139759 Gene: ENSMUSG00000029673 AA Change: E670G
Domain | Start | End | E-Value | Type |
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 |
0.0842 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
99% (77/78) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,384,598 (GRCm39) |
T456S |
probably benign |
Het |
Acmsd |
A |
T |
1: 127,694,070 (GRCm39) |
K333N |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,944,658 (GRCm39) |
K241N |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,817,955 (GRCm39) |
I77V |
probably benign |
Het |
Albfm1 |
C |
T |
5: 90,720,578 (GRCm39) |
P250S |
probably damaging |
Het |
Ankrd35 |
A |
G |
3: 96,591,276 (GRCm39) |
T521A |
probably benign |
Het |
Arap2 |
C |
T |
5: 62,798,666 (GRCm39) |
|
probably null |
Het |
Arfgap3 |
A |
T |
15: 83,227,338 (GRCm39) |
C25S |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,737,125 (GRCm39) |
|
probably benign |
Het |
Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
Brwd1 |
C |
T |
16: 95,837,174 (GRCm39) |
R886H |
probably damaging |
Het |
Carm1 |
G |
A |
9: 21,491,787 (GRCm39) |
|
probably null |
Het |
Cdc5l |
G |
A |
17: 45,726,610 (GRCm39) |
R321W |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,860,984 (GRCm39) |
M841K |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,634,387 (GRCm39) |
T69S |
probably damaging |
Het |
Cpox |
A |
G |
16: 58,495,753 (GRCm39) |
I357V |
probably benign |
Het |
Diaph3 |
C |
A |
14: 87,147,536 (GRCm39) |
V711L |
probably benign |
Het |
Fabp3-ps1 |
T |
C |
10: 86,567,904 (GRCm39) |
|
probably benign |
Het |
Fam120b |
A |
T |
17: 15,651,905 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,164,818 (GRCm39) |
S488P |
probably benign |
Het |
Flcn |
A |
G |
11: 59,686,574 (GRCm39) |
|
probably null |
Het |
Flt3l |
A |
G |
7: 44,781,690 (GRCm39) |
W234R |
probably damaging |
Het |
Fzd7 |
G |
T |
1: 59,522,443 (GRCm39) |
V109L |
probably damaging |
Het |
G3bp1 |
A |
G |
11: 55,379,969 (GRCm39) |
N101S |
probably benign |
Het |
Gadd45g |
A |
G |
13: 52,001,963 (GRCm39) |
E143G |
probably damaging |
Het |
Ganab |
T |
G |
19: 8,884,644 (GRCm39) |
I149S |
probably benign |
Het |
Garnl3 |
A |
G |
2: 32,906,750 (GRCm39) |
S413P |
probably damaging |
Het |
Glis1 |
C |
T |
4: 107,425,316 (GRCm39) |
|
probably null |
Het |
Gm11563 |
A |
G |
11: 99,549,539 (GRCm39) |
S72P |
unknown |
Het |
Gpd1 |
T |
G |
15: 99,618,510 (GRCm39) |
I188S |
possibly damaging |
Het |
Gria2 |
A |
G |
3: 80,639,333 (GRCm39) |
|
probably benign |
Het |
Hpcal4 |
G |
T |
4: 123,082,848 (GRCm39) |
A65S |
possibly damaging |
Het |
Igsf10 |
G |
A |
3: 59,236,089 (GRCm39) |
T1364I |
probably benign |
Het |
Kdm4a |
T |
C |
4: 117,995,428 (GRCm39) |
*1065W |
probably null |
Het |
Klkb1 |
A |
G |
8: 45,731,003 (GRCm39) |
|
probably null |
Het |
Lipo3 |
T |
C |
19: 33,557,951 (GRCm39) |
D147G |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
Macroh2a2 |
A |
G |
10: 61,576,945 (GRCm39) |
S308P |
probably damaging |
Het |
Manba |
T |
C |
3: 135,223,734 (GRCm39) |
I207T |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,600,068 (GRCm39) |
S428T |
probably benign |
Het |
Mfsd4a |
G |
A |
1: 131,969,657 (GRCm39) |
T348I |
probably damaging |
Het |
Mybbp1a |
A |
G |
11: 72,339,202 (GRCm39) |
M880V |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,977,684 (GRCm39) |
|
probably null |
Het |
Nrdc |
T |
G |
4: 108,904,905 (GRCm39) |
I712S |
probably damaging |
Het |
Nup210 |
G |
A |
6: 90,998,466 (GRCm39) |
R774C |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,998,688 (GRCm39) |
R1395* |
probably null |
Het |
Or5b102 |
T |
A |
19: 13,041,658 (GRCm39) |
D294E |
probably benign |
Het |
Pcdh7 |
T |
C |
5: 57,879,336 (GRCm39) |
Y964H |
probably damaging |
Het |
Pgap6 |
C |
A |
17: 26,339,576 (GRCm39) |
Q605K |
probably damaging |
Het |
Plin4 |
T |
C |
17: 56,413,756 (GRCm39) |
T290A |
probably benign |
Het |
Ppara |
T |
C |
15: 85,671,306 (GRCm39) |
|
probably benign |
Het |
Psg21 |
T |
G |
7: 18,386,565 (GRCm39) |
|
probably null |
Het |
Ptar1 |
C |
A |
19: 23,697,704 (GRCm39) |
N405K |
probably benign |
Het |
Ralgps2 |
A |
G |
1: 156,660,233 (GRCm39) |
|
probably null |
Het |
Rnf6 |
T |
A |
5: 146,148,205 (GRCm39) |
N271I |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,832,740 (GRCm39) |
D1019G |
possibly damaging |
Het |
Slc37a3 |
A |
G |
6: 39,329,688 (GRCm39) |
|
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,592,331 (GRCm39) |
|
probably benign |
Het |
Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
Sntg1 |
C |
A |
1: 8,624,960 (GRCm39) |
V279L |
possibly damaging |
Het |
Sorbs1 |
T |
A |
19: 40,300,260 (GRCm39) |
E567D |
probably damaging |
Het |
Sp110 |
C |
A |
1: 85,516,821 (GRCm39) |
|
probably benign |
Het |
Ssu2 |
A |
G |
6: 112,357,515 (GRCm39) |
V175A |
possibly damaging |
Het |
Stk36 |
G |
A |
1: 74,655,780 (GRCm39) |
E428K |
probably benign |
Het |
Teddm1b |
A |
T |
1: 153,751,090 (GRCm39) |
I300F |
possibly damaging |
Het |
Thy1 |
T |
C |
9: 43,958,645 (GRCm39) |
V129A |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,479,229 (GRCm39) |
M654K |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,410,470 (GRCm39) |
S167G |
probably benign |
Het |
Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
Tspan10 |
A |
G |
11: 120,335,244 (GRCm39) |
D118G |
probably damaging |
Het |
Tspo2 |
A |
G |
17: 48,755,841 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,738,672 (GRCm39) |
Q4002* |
probably null |
Het |
Tyro3 |
G |
A |
2: 119,647,385 (GRCm39) |
R834Q |
probably damaging |
Het |
Ugt2b1 |
T |
C |
5: 87,073,943 (GRCm39) |
K139E |
probably benign |
Het |
Vmn1r9 |
A |
T |
6: 57,048,524 (GRCm39) |
I200F |
probably benign |
Het |
|
Other mutations in Auts2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- GGTGCATGTCCAAGTCACGGTAAG -3'
(R):5'- GGCTGGCAAGCCCATTTCATTTC -3'
Sequencing Primer
(F):5'- AGACTACCGATACTGTTCATGGC -3'
(R):5'- CTCTCACAGGGAAAGCGTTG -3'
|
Posted On |
2013-06-11 |