Incidental Mutation 'R5078:Auts2'
| ID |
386958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
| MMRRC Submission |
042667-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5078 (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 132287786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 66
(K66E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000160135
AA Change: K66E
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125706
Gene: ENSMUSG00000029673
AA Change: K66E
| 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
|
| Meta Mutation Damage Score |
0.1714 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (53/53) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,141,771 (GRCm39) |
S345G |
probably benign |
Het |
| Adgrf2 |
A |
T |
17: 43,021,877 (GRCm39) |
F316I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,736,002 (GRCm39) |
|
probably benign |
Het |
| Bicra |
T |
C |
7: 15,709,382 (GRCm39) |
D1144G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,557,312 (GRCm39) |
S1109P |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,822,572 (GRCm39) |
V29A |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 22,200,685 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
G |
A |
6: 61,288,350 (GRCm39) |
R171H |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,312,150 (GRCm39) |
Y133C |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,223,352 (GRCm39) |
D123V |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,946,616 (GRCm39) |
S121P |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,493,936 (GRCm39) |
V1459A |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,675,287 (GRCm39) |
Y704* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,729,140 (GRCm39) |
|
probably null |
Het |
| Egln3 |
T |
C |
12: 54,228,453 (GRCm39) |
R218G |
probably damaging |
Het |
| Gm11568 |
T |
C |
11: 99,749,181 (GRCm39) |
C129R |
unknown |
Het |
| Gm13991 |
T |
C |
2: 116,358,355 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
C |
A |
16: 26,784,332 (GRCm39) |
V58L |
probably benign |
Het |
| Gpx5 |
A |
G |
13: 21,472,881 (GRCm39) |
F151S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,546,922 (GRCm39) |
G1079R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,752,969 (GRCm39) |
E1039G |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,125,487 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,143,530 (GRCm39) |
T500A |
possibly damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,890,660 (GRCm39) |
K650Q |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,331,874 (GRCm39) |
D1627G |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,152,433 (GRCm39) |
K354E |
probably damaging |
Het |
| Or5d20-ps1 |
T |
A |
2: 87,931,879 (GRCm39) |
I151L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,478,895 (GRCm39) |
T2118A |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,598,105 (GRCm39) |
F861L |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,607 (GRCm39) |
Y2368H |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,963 (GRCm39) |
L252* |
probably null |
Het |
| Prom2 |
T |
C |
2: 127,373,757 (GRCm39) |
Q641R |
probably benign |
Het |
| Prpf31 |
T |
C |
7: 3,637,702 (GRCm39) |
S180P |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,263,414 (GRCm39) |
Y142* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,201,082 (GRCm39) |
M265R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,487,161 (GRCm39) |
D32E |
probably damaging |
Het |
| Rps23 |
T |
C |
13: 91,071,822 (GRCm39) |
F41L |
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Selenot |
C |
T |
3: 58,492,692 (GRCm39) |
R60W |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,546,921 (GRCm39) |
K342E |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,144,460 (GRCm39) |
N61Y |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,122 (GRCm39) |
I701F |
probably damaging |
Het |
| Zmynd12 |
A |
G |
4: 119,302,047 (GRCm39) |
K229E |
probably damaging |
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 |
|
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 |
|
|
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'- TACATGGAGATCTGACACACAG -3'
(R):5'- ATGTAGCAGTTAAGCCGCAG -3'
Sequencing Primer
(F):5'- CCAATGGAAGAGTGTTAGTCAAATAC -3'
(R):5'- CGCAGGAACGTGCGGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation