Incidental Mutation 'R0586:Astn2'
ID |
55747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Astn2
|
Ensembl Gene |
ENSMUSG00000028373 |
Gene Name |
astrotactin 2 |
Synonyms |
1d8, Astnl |
MMRRC Submission |
038776-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R0586 (G1)
|
Quality Score |
191 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 66103379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 345
(V345M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068214]
[ENSMUST00000084496]
|
AlphaFold |
Q80Z10 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068214
AA Change: V345M
|
SMART Domains |
Protein: ENSMUSP00000065786 Gene: ENSMUSG00000028373 AA Change: V345M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
low complexity region
|
342 |
361 |
N/A |
INTRINSIC |
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
low complexity region
|
432 |
437 |
N/A |
INTRINSIC |
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
EGF_like
|
526 |
563 |
2.92e1 |
SMART |
Blast:EGF_like
|
667 |
708 |
2e-18 |
BLAST |
EGF_like
|
715 |
764 |
4.03e1 |
SMART |
MACPF
|
864 |
1048 |
2.88e-55 |
SMART |
FN3
|
1079 |
1191 |
2.41e0 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000084496
AA Change: V345M
|
SMART Domains |
Protein: ENSMUSP00000081540 Gene: ENSMUSG00000028373 AA Change: V345M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
low complexity region
|
380 |
385 |
N/A |
INTRINSIC |
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
EGF_like
|
474 |
511 |
2.92e1 |
SMART |
Blast:EGF_like
|
615 |
656 |
2e-18 |
BLAST |
EGF_like
|
663 |
712 |
4.03e1 |
SMART |
MACPF
|
812 |
996 |
2.88e-55 |
SMART |
FN3
|
1027 |
1139 |
2.41e0 |
SMART |
|
Meta Mutation Damage Score |
0.0981 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.4%
|
Validation Efficiency |
100% (74/74) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,092,860 (GRCm39) |
V308E |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,356,418 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,844,286 (GRCm39) |
E756G |
probably damaging |
Het |
Ccpg1 |
C |
T |
9: 72,909,103 (GRCm39) |
L135F |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,845 (GRCm39) |
H694Y |
probably damaging |
Het |
Cfh |
G |
A |
1: 140,110,920 (GRCm39) |
T14I |
probably damaging |
Het |
Cfhr2 |
G |
A |
1: 139,741,172 (GRCm39) |
R268* |
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,738,350 (GRCm39) |
I53L |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
Cnfn |
C |
T |
7: 25,067,256 (GRCm39) |
V98I |
probably benign |
Het |
Cntnap1 |
C |
T |
11: 101,077,840 (GRCm39) |
R1122W |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,272,024 (GRCm39) |
E384V |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,648,705 (GRCm39) |
|
probably benign |
Het |
Ctsj |
T |
A |
13: 61,151,515 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
C |
19: 39,501,934 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
C |
14: 68,046,481 (GRCm39) |
I767S |
probably damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,446 (GRCm39) |
T552A |
probably damaging |
Het |
Epdr1 |
A |
G |
13: 19,778,715 (GRCm39) |
I25T |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,789,138 (GRCm39) |
D568V |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,836,516 (GRCm39) |
V145D |
probably damaging |
Het |
Fhip1b |
T |
C |
7: 105,038,654 (GRCm39) |
E195G |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
Fuz |
T |
C |
7: 44,547,982 (GRCm39) |
V183A |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,046 (GRCm39) |
S284P |
probably damaging |
Het |
Hoxb4 |
G |
T |
11: 96,209,713 (GRCm39) |
G40C |
probably damaging |
Het |
Kcnn1 |
T |
C |
8: 71,316,513 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
C |
A |
15: 98,733,088 (GRCm39) |
|
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,203,732 (GRCm39) |
V366A |
unknown |
Het |
Ldlr |
G |
A |
9: 21,651,040 (GRCm39) |
R486H |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,795,658 (GRCm39) |
|
probably benign |
Het |
Mical3 |
A |
T |
6: 121,006,602 (GRCm39) |
|
probably benign |
Het |
Myh15 |
T |
C |
16: 48,992,250 (GRCm39) |
|
probably benign |
Het |
Nup155 |
T |
A |
15: 8,159,716 (GRCm39) |
H542Q |
probably benign |
Het |
Opn4 |
A |
G |
14: 34,320,930 (GRCm39) |
|
probably benign |
Het |
Or13a20 |
T |
C |
7: 140,231,976 (GRCm39) |
F28S |
probably benign |
Het |
Or4a68 |
T |
A |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
Or8g4 |
A |
T |
9: 39,662,414 (GRCm39) |
H244L |
probably damaging |
Het |
Or8h10 |
T |
C |
2: 86,809,126 (GRCm39) |
N5D |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Parp14 |
T |
C |
16: 35,661,382 (GRCm39) |
K1522R |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,594,335 (GRCm39) |
D1259E |
probably benign |
Het |
Pogz |
C |
T |
3: 94,786,664 (GRCm39) |
A1084V |
probably damaging |
Het |
Popdc3 |
G |
A |
10: 45,191,359 (GRCm39) |
V157M |
probably benign |
Het |
Prrt4 |
T |
C |
6: 29,171,183 (GRCm39) |
Y423C |
probably damaging |
Het |
Qrich1 |
C |
T |
9: 108,411,719 (GRCm39) |
H415Y |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,433,235 (GRCm39) |
N801D |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,525,124 (GRCm39) |
|
probably benign |
Het |
Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,650,445 (GRCm39) |
D356G |
probably null |
Het |
Skint8 |
C |
G |
4: 111,794,126 (GRCm39) |
P172R |
probably damaging |
Het |
Slc12a8 |
T |
G |
16: 33,478,600 (GRCm39) |
M643R |
possibly damaging |
Het |
Sult1c2 |
A |
T |
17: 54,271,113 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,640,321 (GRCm39) |
L272P |
probably damaging |
Het |
Tcaf1 |
T |
A |
6: 42,650,473 (GRCm39) |
M869L |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,154,219 (GRCm39) |
N78S |
probably damaging |
Het |
Tectb |
A |
T |
19: 55,170,356 (GRCm39) |
Y69F |
probably damaging |
Het |
Them4 |
A |
T |
3: 94,237,101 (GRCm39) |
N187I |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,244,582 (GRCm39) |
|
probably null |
Het |
Tnik |
G |
T |
3: 28,631,510 (GRCm39) |
|
probably benign |
Het |
Tns2 |
G |
T |
15: 102,018,020 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
G |
17: 34,891,118 (GRCm39) |
D487G |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,217,660 (GRCm39) |
C202S |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,759,350 (GRCm39) |
I1145F |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,483,596 (GRCm39) |
T478A |
probably benign |
Het |
Ube2e3 |
T |
C |
2: 78,750,334 (GRCm39) |
Y187H |
probably benign |
Het |
Ubxn11 |
A |
G |
4: 133,836,963 (GRCm39) |
R64G |
possibly damaging |
Het |
Wwtr1 |
T |
C |
3: 57,366,487 (GRCm39) |
T407A |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,502 (GRCm39) |
S1325T |
possibly damaging |
Het |
|
Other mutations in Astn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00964:Astn2
|
APN |
4 |
66,103,424 (GRCm39) |
missense |
unknown |
|
IGL01657:Astn2
|
APN |
4 |
65,570,186 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01747:Astn2
|
APN |
4 |
65,712,855 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02008:Astn2
|
APN |
4 |
65,977,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02215:Astn2
|
APN |
4 |
66,184,471 (GRCm39) |
missense |
unknown |
|
IGL02484:Astn2
|
APN |
4 |
65,910,516 (GRCm39) |
splice site |
probably benign |
|
IGL02494:Astn2
|
APN |
4 |
65,910,585 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02792:Astn2
|
APN |
4 |
65,563,058 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03248:Astn2
|
APN |
4 |
65,664,530 (GRCm39) |
splice site |
probably benign |
|
IGL03409:Astn2
|
APN |
4 |
65,353,423 (GRCm39) |
missense |
possibly damaging |
0.46 |
B6584:Astn2
|
UTSW |
4 |
65,910,624 (GRCm39) |
missense |
probably damaging |
0.99 |
R0015:Astn2
|
UTSW |
4 |
66,184,619 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0015:Astn2
|
UTSW |
4 |
66,184,619 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0092:Astn2
|
UTSW |
4 |
66,322,219 (GRCm39) |
missense |
unknown |
|
R0245:Astn2
|
UTSW |
4 |
65,712,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R0528:Astn2
|
UTSW |
4 |
65,563,119 (GRCm39) |
splice site |
probably benign |
|
R0652:Astn2
|
UTSW |
4 |
65,712,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R0880:Astn2
|
UTSW |
4 |
65,566,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R0931:Astn2
|
UTSW |
4 |
65,566,530 (GRCm39) |
missense |
probably damaging |
0.99 |
R1353:Astn2
|
UTSW |
4 |
66,184,572 (GRCm39) |
missense |
unknown |
|
R1700:Astn2
|
UTSW |
4 |
65,664,591 (GRCm39) |
nonsense |
probably null |
|
R1934:Astn2
|
UTSW |
4 |
65,353,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R2017:Astn2
|
UTSW |
4 |
65,459,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R2101:Astn2
|
UTSW |
4 |
65,499,923 (GRCm39) |
nonsense |
probably null |
|
R2158:Astn2
|
UTSW |
4 |
66,322,491 (GRCm39) |
missense |
unknown |
|
R2907:Astn2
|
UTSW |
4 |
65,563,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2923:Astn2
|
UTSW |
4 |
65,832,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R2938:Astn2
|
UTSW |
4 |
65,910,550 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3033:Astn2
|
UTSW |
4 |
65,562,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R3933:Astn2
|
UTSW |
4 |
66,322,192 (GRCm39) |
missense |
unknown |
|
R4151:Astn2
|
UTSW |
4 |
65,647,557 (GRCm39) |
critical splice donor site |
probably null |
|
R4230:Astn2
|
UTSW |
4 |
65,829,919 (GRCm39) |
missense |
probably damaging |
0.99 |
R4497:Astn2
|
UTSW |
4 |
66,037,300 (GRCm39) |
intron |
probably benign |
|
R4717:Astn2
|
UTSW |
4 |
65,562,991 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4844:Astn2
|
UTSW |
4 |
65,562,967 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4928:Astn2
|
UTSW |
4 |
65,647,644 (GRCm39) |
missense |
probably damaging |
0.98 |
R5374:Astn2
|
UTSW |
4 |
65,315,242 (GRCm39) |
missense |
probably damaging |
0.96 |
R5442:Astn2
|
UTSW |
4 |
65,500,023 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5694:Astn2
|
UTSW |
4 |
65,868,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R5756:Astn2
|
UTSW |
4 |
66,037,425 (GRCm39) |
intron |
probably benign |
|
R5763:Astn2
|
UTSW |
4 |
65,647,568 (GRCm39) |
missense |
probably benign |
0.14 |
R6089:Astn2
|
UTSW |
4 |
65,712,810 (GRCm39) |
missense |
probably damaging |
0.96 |
R6990:Astn2
|
UTSW |
4 |
65,910,540 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7304:Astn2
|
UTSW |
4 |
66,103,612 (GRCm39) |
missense |
unknown |
|
R7325:Astn2
|
UTSW |
4 |
65,460,906 (GRCm39) |
missense |
probably benign |
0.33 |
R7356:Astn2
|
UTSW |
4 |
66,103,503 (GRCm39) |
missense |
unknown |
|
R7414:Astn2
|
UTSW |
4 |
65,459,193 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7755:Astn2
|
UTSW |
4 |
65,712,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R7887:Astn2
|
UTSW |
4 |
65,563,103 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8027:Astn2
|
UTSW |
4 |
65,459,208 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8046:Astn2
|
UTSW |
4 |
66,184,587 (GRCm39) |
nonsense |
probably null |
|
R8188:Astn2
|
UTSW |
4 |
65,977,418 (GRCm39) |
missense |
unknown |
|
R8271:Astn2
|
UTSW |
4 |
65,910,663 (GRCm39) |
missense |
unknown |
|
R8274:Astn2
|
UTSW |
4 |
65,570,098 (GRCm39) |
critical splice donor site |
probably null |
|
R8505:Astn2
|
UTSW |
4 |
65,299,825 (GRCm39) |
missense |
unknown |
|
R8815:Astn2
|
UTSW |
4 |
65,830,834 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8989:Astn2
|
UTSW |
4 |
65,499,890 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9013:Astn2
|
UTSW |
4 |
65,910,584 (GRCm39) |
missense |
probably benign |
0.23 |
R9127:Astn2
|
UTSW |
4 |
66,322,164 (GRCm39) |
missense |
unknown |
|
R9255:Astn2
|
UTSW |
4 |
65,563,085 (GRCm39) |
nonsense |
probably null |
|
R9297:Astn2
|
UTSW |
4 |
65,460,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9320:Astn2
|
UTSW |
4 |
66,322,386 (GRCm39) |
missense |
unknown |
|
R9349:Astn2
|
UTSW |
4 |
66,184,492 (GRCm39) |
missense |
unknown |
|
R9399:Astn2
|
UTSW |
4 |
65,664,588 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9572:Astn2
|
UTSW |
4 |
65,299,872 (GRCm39) |
missense |
unknown |
|
R9573:Astn2
|
UTSW |
4 |
65,566,591 (GRCm39) |
missense |
probably benign |
0.08 |
R9674:Astn2
|
UTSW |
4 |
65,460,963 (GRCm39) |
missense |
probably damaging |
0.98 |
R9722:Astn2
|
UTSW |
4 |
65,831,978 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTCTCAAAACCCCAGGTATTGC -3'
(R):5'- TTCCGATCCTCCAGACTTCAGACAC -3'
Sequencing Primer
(F):5'- ACCCCAGGTATTGCTTCGATATTTC -3'
(R):5'- TTCAGACACACAACTCAGTCATTG -3'
|
Posted On |
2013-07-11 |