Incidental Mutation 'R2431:Auts2'
ID |
476364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Auts2
|
Ensembl Gene |
ENSMUSG00000029673 |
Gene Name |
autism susceptibility candidate 2 |
Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
MMRRC Submission |
040392-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2431 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 132287887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 32
(L32*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160135]
|
AlphaFold |
A0A087WPF7 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000071591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000100564
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160135
AA Change: L32*
|
SMART Domains |
Protein: ENSMUSP00000125706 Gene: ENSMUSG00000029673 AA Change: L32*
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161108
|
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 |
noncoding transcript
Transcript: ENSMUST00000182575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182974
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
T |
C |
11: 97,343,230 (GRCm39) |
V504A |
probably benign |
Het |
Atr |
T |
G |
9: 95,744,945 (GRCm39) |
N87K |
probably benign |
Het |
Bptf |
A |
G |
11: 106,938,066 (GRCm39) |
V2675A |
possibly damaging |
Het |
Brdt |
C |
T |
5: 107,525,881 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,445,841 (GRCm39) |
K444E |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,501,280 (GRCm39) |
D96G |
probably damaging |
Het |
Cpq |
C |
A |
15: 33,594,265 (GRCm39) |
Y425* |
probably null |
Het |
Eri1 |
A |
G |
8: 35,943,632 (GRCm39) |
Y221H |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,246,955 (GRCm39) |
E1065G |
probably damaging |
Het |
Focad |
T |
C |
4: 88,249,264 (GRCm39) |
V837A |
unknown |
Het |
Ica1 |
G |
A |
6: 8,658,265 (GRCm39) |
T284I |
probably benign |
Het |
Isg15 |
C |
T |
4: 156,285,158 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,019,101 (GRCm39) |
T1073A |
possibly damaging |
Het |
Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Or2a25 |
T |
C |
6: 42,888,946 (GRCm39) |
L163S |
probably damaging |
Het |
Or2ag19 |
T |
C |
7: 106,444,598 (GRCm39) |
V260A |
possibly damaging |
Het |
Or5b21 |
T |
C |
19: 12,839,970 (GRCm39) |
V277A |
probably damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,299 (GRCm39) |
N5S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,378,695 (GRCm39) |
H78R |
possibly damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,897,197 (GRCm39) |
N121D |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,271,389 (GRCm39) |
T3055A |
possibly damaging |
Het |
Ppp5c |
C |
T |
7: 16,749,350 (GRCm39) |
V160M |
probably damaging |
Het |
Ptpn23 |
G |
A |
9: 110,215,347 (GRCm39) |
R1438* |
probably null |
Het |
Ptpro |
G |
A |
6: 137,420,583 (GRCm39) |
W183* |
probably null |
Het |
Pygm |
T |
C |
19: 6,443,815 (GRCm39) |
M592T |
probably damaging |
Het |
Qdpr |
A |
G |
5: 45,602,072 (GRCm39) |
V68A |
probably damaging |
Het |
Rfc5 |
A |
C |
5: 117,523,523 (GRCm39) |
S92A |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,831,715 (GRCm39) |
Q362R |
probably benign |
Het |
Ror1 |
G |
A |
4: 100,298,352 (GRCm39) |
C575Y |
probably damaging |
Het |
Skint9 |
T |
A |
4: 112,246,464 (GRCm39) |
D216V |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,149,242 (GRCm39) |
|
probably null |
Het |
Ugp2 |
A |
T |
11: 21,279,025 (GRCm39) |
V387D |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,211,062 (GRCm39) |
S747P |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,732,893 (GRCm39) |
I7F |
possibly damaging |
Het |
Zfp507 |
C |
T |
7: 35,494,827 (GRCm39) |
R72H |
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 |
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 |
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 |
|
Posted On |
2017-05-11 |