Incidental Mutation 'R6089:Astn2'
ID |
484644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Astn2
|
Ensembl Gene |
ENSMUSG00000028373 |
Gene Name |
astrotactin 2 |
Synonyms |
1d8, Astnl |
MMRRC Submission |
044246-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R6089 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65712810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 610
(F610S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068214]
[ENSMUST00000084496]
|
AlphaFold |
Q80Z10 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068214
AA Change: F662S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000065786 Gene: ENSMUSG00000028373 AA Change: F662S
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 |
probably damaging
Transcript: ENSMUST00000084496
AA Change: F610S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000081540 Gene: ENSMUSG00000028373 AA Change: F610S
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
A |
G |
1: 125,335,132 (GRCm39) |
V95A |
probably damaging |
Het |
Ankrd40 |
A |
T |
11: 94,224,751 (GRCm39) |
K53N |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,960,450 (GRCm39) |
Q2338* |
probably null |
Het |
Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
Btbd8 |
C |
T |
5: 107,654,895 (GRCm39) |
A386V |
probably damaging |
Het |
Calm4 |
A |
T |
13: 3,887,874 (GRCm39) |
|
probably benign |
Het |
Card10 |
T |
C |
15: 78,686,614 (GRCm39) |
T68A |
probably benign |
Het |
Cars2 |
A |
G |
8: 11,580,301 (GRCm39) |
M245T |
probably damaging |
Het |
Cat |
C |
A |
2: 103,303,296 (GRCm39) |
L160F |
probably null |
Het |
Cers5 |
G |
T |
15: 99,638,883 (GRCm39) |
T144K |
probably benign |
Het |
Cyp3a13 |
T |
A |
5: 137,908,215 (GRCm39) |
L211F |
probably benign |
Het |
Defb4 |
A |
T |
8: 19,251,321 (GRCm39) |
R63* |
probably null |
Het |
Dnah14 |
G |
T |
1: 181,577,719 (GRCm39) |
W3012L |
probably damaging |
Het |
Dusp18 |
A |
G |
11: 3,847,555 (GRCm39) |
T182A |
probably benign |
Het |
Dzip1l |
C |
A |
9: 99,524,737 (GRCm39) |
T286K |
possibly damaging |
Het |
Eif2ak3 |
A |
T |
6: 70,873,918 (GRCm39) |
T944S |
possibly damaging |
Het |
Fbn1 |
A |
T |
2: 125,163,145 (GRCm39) |
I2119N |
possibly damaging |
Het |
Gabbr2 |
A |
G |
4: 46,846,448 (GRCm39) |
S154P |
probably damaging |
Het |
Gm15440 |
A |
T |
13: 51,845,437 (GRCm39) |
H107Q |
unknown |
Het |
Grm2 |
G |
A |
9: 106,531,090 (GRCm39) |
P133L |
probably damaging |
Het |
Gsdme |
A |
G |
6: 50,228,285 (GRCm39) |
V61A |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,591,198 (GRCm39) |
T23A |
probably benign |
Het |
Helz |
A |
T |
11: 107,485,963 (GRCm39) |
|
probably null |
Het |
Herc1 |
A |
C |
9: 66,352,814 (GRCm39) |
H2100P |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ifngr1 |
T |
C |
10: 19,482,048 (GRCm39) |
S213P |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,125,721 (GRCm39) |
D636G |
probably benign |
Het |
Mre11a |
G |
A |
9: 14,730,760 (GRCm39) |
D491N |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,554,548 (GRCm39) |
L3915P |
unknown |
Het |
Myh1 |
T |
A |
11: 67,092,993 (GRCm39) |
|
probably null |
Het |
Myh1 |
T |
G |
11: 67,111,613 (GRCm39) |
|
probably null |
Het |
Myh7b |
C |
T |
2: 155,464,409 (GRCm39) |
T608M |
probably damaging |
Het |
Myof |
T |
C |
19: 37,955,508 (GRCm39) |
K23E |
probably benign |
Het |
Nacad |
A |
G |
11: 6,551,331 (GRCm39) |
V620A |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,809,542 (GRCm39) |
Y1121H |
probably damaging |
Het |
Pcdha9 |
T |
C |
18: 37,131,551 (GRCm39) |
F207L |
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
Pigg |
A |
T |
5: 108,489,788 (GRCm39) |
M798L |
probably benign |
Het |
Poc5 |
G |
T |
13: 96,533,179 (GRCm39) |
M102I |
probably damaging |
Het |
Ppp2r3d |
T |
A |
9: 101,088,835 (GRCm39) |
Q496L |
probably benign |
Het |
Ptprf |
A |
G |
4: 118,068,281 (GRCm39) |
Y1752H |
probably damaging |
Het |
Ptpru |
G |
C |
4: 131,499,941 (GRCm39) |
S1244R |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,307,385 (GRCm39) |
K682E |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,816,041 (GRCm39) |
D170G |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,597,406 (GRCm39) |
D478G |
possibly damaging |
Het |
Scai |
A |
T |
2: 38,973,566 (GRCm39) |
Y58* |
probably null |
Het |
Simc1 |
G |
A |
13: 54,676,303 (GRCm39) |
V1007M |
probably benign |
Het |
Tcf20 |
G |
T |
15: 82,737,409 (GRCm39) |
D1347E |
probably benign |
Het |
Tdo2 |
T |
C |
3: 81,870,035 (GRCm39) |
Y279C |
probably damaging |
Het |
Trdn |
C |
T |
10: 33,340,571 (GRCm39) |
P602S |
probably benign |
Het |
Txndc5 |
A |
T |
13: 38,707,392 (GRCm39) |
M1K |
probably null |
Het |
Ubr2 |
A |
C |
17: 47,293,218 (GRCm39) |
M356R |
possibly damaging |
Het |
Uqcrc2 |
A |
T |
7: 120,253,232 (GRCm39) |
D332V |
probably damaging |
Het |
Usp48 |
T |
C |
4: 137,333,129 (GRCm39) |
F108L |
probably damaging |
Het |
Vill |
A |
G |
9: 118,886,867 (GRCm39) |
N4S |
probably benign |
Het |
Vmn1r11 |
T |
C |
6: 57,114,645 (GRCm39) |
V103A |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,286,336 (GRCm39) |
D278G |
probably benign |
Het |
Vps35l |
T |
G |
7: 118,345,658 (GRCm39) |
S59A |
possibly damaging |
Het |
Wfdc15a |
A |
T |
2: 164,041,586 (GRCm39) |
L79* |
probably null |
Het |
Xxylt1 |
C |
T |
16: 30,899,799 (GRCm39) |
V119M |
probably damaging |
Het |
Zfp26 |
G |
T |
9: 20,348,989 (GRCm39) |
A525D |
probably damaging |
Het |
Zgrf1 |
G |
A |
3: 127,389,642 (GRCm39) |
G396D |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,948,889 (GRCm39) |
D148G |
possibly damaging |
Het |
Zscan26 |
G |
T |
13: 21,632,499 (GRCm39) |
S77R |
probably 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 |
|
R0586:Astn2
|
UTSW |
4 |
66,103,379 (GRCm39) |
missense |
unknown |
|
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 |
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'- AGGAGGTGAGCAGCCTGATA -3'
(R):5'- GCACCATGCTCTCCACTGTT -3'
Sequencing Primer
(F):5'- GACACCCCTGTGAAAGAGTCATTTG -3'
(R):5'- ATGCTCTCCACTGTTGCCTC -3'
|
Posted On |
2017-08-16 |