Incidental Mutation 'R9297:Astn2'
| ID |
704646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn2
|
| Ensembl Gene |
ENSMUSG00000028373 |
| Gene Name |
astrotactin 2 |
| Synonyms |
1d8, Astnl |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R9297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65460960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1058
(D1058G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068214]
[ENSMUST00000084496]
|
| AlphaFold |
Q80Z10 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068214
AA Change: D1058G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: D1058G
| 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: D1006G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: D1006G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,599,534 (GRCm39) |
Q22R |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,301,321 (GRCm39) |
S68P |
possibly damaging |
Het |
| Adcy6 |
A |
T |
15: 98,491,466 (GRCm39) |
N1044K |
possibly damaging |
Het |
| Ak9 |
T |
G |
10: 41,299,081 (GRCm39) |
M1594R |
unknown |
Het |
| Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
| Angpt1 |
A |
G |
15: 42,301,751 (GRCm39) |
I419T |
probably benign |
Het |
| Ankrd31 |
A |
T |
13: 97,015,085 (GRCm39) |
L1451F |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,990,157 (GRCm39) |
I860T |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atg3 |
A |
G |
16: 44,987,371 (GRCm39) |
H48R |
possibly damaging |
Het |
| Bnc2 |
A |
C |
4: 84,474,136 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,496,887 (GRCm39) |
Y453H |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,891,085 (GRCm39) |
T653A |
probably benign |
Het |
| Ccdc102a |
A |
G |
8: 95,638,120 (GRCm39) |
S249P |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,832,920 (GRCm39) |
Y499C |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,028 (GRCm39) |
F1468L |
probably benign |
Het |
| Ccdc162 |
C |
A |
10: 41,506,110 (GRCm39) |
M893I |
probably benign |
Het |
| Ccdc33 |
C |
A |
9: 57,993,876 (GRCm39) |
W335L |
possibly damaging |
Het |
| Chn2 |
T |
A |
6: 54,272,840 (GRCm39) |
Y355N |
probably damaging |
Het |
| Clec4g |
A |
G |
8: 3,766,500 (GRCm39) |
M267T |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,554,273 (GRCm39) |
D111E |
possibly damaging |
Het |
| Crlf3 |
A |
G |
11: 79,950,031 (GRCm39) |
C200R |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,378,375 (GRCm39) |
S164P |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,436,714 (GRCm39) |
N126S |
probably damaging |
Het |
| Diaph1 |
G |
A |
18: 38,022,828 (GRCm39) |
T782I |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,204,054 (GRCm39) |
|
probably benign |
Het |
| Eme1 |
A |
T |
11: 94,541,614 (GRCm39) |
S69R |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,908,996 (GRCm39) |
D2335E |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,024,973 (GRCm39) |
K282E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,995,555 (GRCm39) |
E380G |
probably damaging |
Het |
| Gm973 |
A |
T |
1: 59,583,829 (GRCm39) |
Y204F |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,528,769 (GRCm39) |
S337T |
probably benign |
Het |
| Ipo8 |
C |
A |
6: 148,703,076 (GRCm39) |
C416F |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,352,933 (GRCm39) |
I214T |
probably damaging |
Het |
| Kdelr3 |
C |
A |
15: 79,411,275 (GRCm39) |
L203I |
probably benign |
Het |
| Kif26b |
C |
T |
1: 178,543,374 (GRCm39) |
Q336* |
probably null |
Het |
| Krt36 |
A |
G |
11: 99,994,271 (GRCm39) |
Y269H |
probably damaging |
Het |
| Lamc1 |
G |
T |
1: 153,127,746 (GRCm39) |
R386S |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,727,736 (GRCm39) |
D122V |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,280,873 (GRCm39) |
T1841A |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,993 (GRCm39) |
D440E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,480 (GRCm39) |
I448T |
probably benign |
Het |
| Megf8 |
G |
T |
7: 25,030,511 (GRCm39) |
C488F |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,563,314 (GRCm39) |
E299G |
probably damaging |
Het |
| Mpst |
G |
T |
15: 78,294,642 (GRCm39) |
V125L |
probably damaging |
Het |
| Msx1 |
G |
A |
5: 37,981,756 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,302,759 (GRCm39) |
E473G |
|
Het |
| Myo15a |
A |
G |
11: 60,385,899 (GRCm39) |
R602G |
probably null |
Het |
| Myod1 |
A |
T |
7: 46,026,356 (GRCm39) |
H87L |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,897 (GRCm39) |
V478A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,898,359 (GRCm39) |
I6634N |
unknown |
Het |
| Or52ab7 |
T |
A |
7: 102,978,583 (GRCm39) |
Y297N |
probably damaging |
Het |
| Or52e7 |
T |
C |
7: 104,684,830 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or8k22 |
A |
G |
2: 86,163,188 (GRCm39) |
Y171H |
probably benign |
Het |
| Pdgfrl |
C |
T |
8: 41,391,268 (GRCm39) |
S66F |
probably damaging |
Het |
| Phf20 |
G |
A |
2: 156,115,690 (GRCm39) |
R337H |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,293,118 (GRCm39) |
Y2834F |
probably benign |
Het |
| Plekhg4 |
A |
C |
8: 106,105,907 (GRCm39) |
E768A |
probably damaging |
Het |
| Prss37 |
A |
T |
6: 40,491,909 (GRCm39) |
Y224N |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,765,257 (GRCm39) |
V9E |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,417,698 (GRCm39) |
L926S |
probably benign |
Het |
| Rgl1 |
G |
A |
1: 152,400,454 (GRCm39) |
T649I |
possibly damaging |
Het |
| Serpinf1 |
A |
G |
11: 75,307,251 (GRCm39) |
S29P |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,668,717 (GRCm39) |
D1119E |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,505,674 (GRCm39) |
K255E |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Stimate |
T |
A |
14: 30,588,639 (GRCm39) |
V122E |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,287 (GRCm39) |
I247T |
probably damaging |
Het |
| Tmem145 |
C |
T |
7: 25,008,257 (GRCm39) |
T280M |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zfp219 |
T |
C |
14: 52,246,494 (GRCm39) |
H211R |
probably damaging |
Het |
| Zfp42 |
T |
C |
8: 43,748,772 (GRCm39) |
N243S |
possibly damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,668,201 (GRCm39) |
S246R |
probably benign |
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 |
|
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 |
|
|
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'- GAGATTTTAATGATTTGGGTAGGCACC -3'
(R):5'- TTCTGAAAGCTGGGAAATGACTAG -3'
Sequencing Primer
(F):5'- GGTAGGCACCCTGAAAACC -3'
(R):5'- GTTGAAGATGTGAAAATCCACCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation