Incidental Mutation 'R7325:Astn2'
| ID |
568808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn2
|
| Ensembl Gene |
ENSMUSG00000028373 |
| Gene Name |
astrotactin 2 |
| Synonyms |
1d8, Astnl |
| MMRRC Submission |
045419-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R7325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65460906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 1076
(S1076N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068214]
[ENSMUST00000084496]
|
| AlphaFold |
Q80Z10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068214
AA Change: S1076N
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: S1076N
| 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: S1024N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: S1024N
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,571,711 (GRCm39) |
Q402L |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,869,917 (GRCm39) |
T638A |
probably benign |
Het |
| Agtr1a |
A |
C |
13: 30,565,890 (GRCm39) |
K318N |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 90,777,294 (GRCm39) |
T1095A |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,637 (GRCm39) |
I207N |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,620,599 (GRCm39) |
L484P |
possibly damaging |
Het |
| Baat |
C |
A |
4: 49,490,213 (GRCm39) |
L290F |
probably benign |
Het |
| Boll |
T |
C |
1: 55,343,757 (GRCm39) |
Y222C |
probably damaging |
Het |
| Bphl |
A |
T |
13: 34,234,324 (GRCm39) |
I147F |
possibly damaging |
Het |
| Cadps2 |
T |
G |
6: 23,409,934 (GRCm39) |
D766A |
unknown |
Het |
| Cd300lb |
T |
A |
11: 114,815,858 (GRCm39) |
K210M |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,555,185 (GRCm39) |
Q797R |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,917,209 (GRCm39) |
S255C |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,141,963 (GRCm39) |
|
probably null |
Het |
| Cip2a |
T |
A |
16: 48,826,184 (GRCm39) |
M417K |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
| Dennd5b |
T |
A |
6: 148,922,068 (GRCm39) |
K815N |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,350,620 (GRCm39) |
V547A |
probably benign |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,697,460 (GRCm39) |
|
probably null |
Het |
| Flg2 |
T |
A |
3: 93,110,679 (GRCm39) |
N902K |
unknown |
Het |
| Fyttd1 |
T |
A |
16: 32,704,618 (GRCm39) |
N76K |
probably benign |
Het |
| Gins1 |
T |
A |
2: 150,758,086 (GRCm39) |
D57E |
probably benign |
Het |
| Gm5565 |
G |
C |
5: 146,095,171 (GRCm39) |
|
probably null |
Het |
| Gpsm2 |
T |
C |
3: 108,610,244 (GRCm39) |
Y72C |
probably damaging |
Het |
| Hace1 |
C |
A |
10: 45,465,603 (GRCm39) |
S53* |
probably null |
Het |
| Insig2 |
A |
G |
1: 121,234,666 (GRCm39) |
V188A |
possibly damaging |
Het |
| Ism1 |
T |
C |
2: 139,598,963 (GRCm39) |
V312A |
probably damaging |
Het |
| Jmy |
A |
T |
13: 93,609,251 (GRCm39) |
Y353N |
probably damaging |
Het |
| Maz |
A |
C |
7: 126,624,725 (GRCm39) |
V265G |
probably benign |
Het |
| Mtmr14 |
T |
A |
6: 113,246,509 (GRCm39) |
I426N |
probably damaging |
Het |
| Or1e34 |
C |
T |
11: 73,779,101 (GRCm39) |
M32I |
probably benign |
Het |
| Or5b113 |
A |
G |
19: 13,342,001 (GRCm39) |
E3G |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,413 (GRCm39) |
N464K |
probably damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,440 (GRCm39) |
H525Q |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Podn |
C |
T |
4: 107,874,899 (GRCm39) |
|
probably null |
Het |
| Prim1 |
A |
G |
10: 127,858,788 (GRCm39) |
D232G |
probably null |
Het |
| Prrt1 |
T |
A |
17: 34,851,161 (GRCm39) |
M283K |
possibly damaging |
Het |
| Rgs9 |
A |
T |
11: 109,167,407 (GRCm39) |
I65N |
probably damaging |
Het |
| Scgb2b26 |
C |
A |
7: 33,643,782 (GRCm39) |
V53L |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,965,422 (GRCm39) |
P1010Q |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
| Slc17a6 |
G |
T |
7: 51,294,766 (GRCm39) |
A158S |
probably damaging |
Het |
| Slc9a9 |
C |
T |
9: 94,594,951 (GRCm39) |
H154Y |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,934,951 (GRCm39) |
K379E |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,962,948 (GRCm39) |
|
probably null |
Het |
| Snapc3 |
T |
C |
4: 83,353,507 (GRCm39) |
I182T |
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,470,260 (GRCm39) |
V856A |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,103,495 (GRCm39) |
N265I |
probably damaging |
Het |
| Tespa1 |
A |
T |
10: 130,197,910 (GRCm39) |
N311Y |
probably damaging |
Het |
| Tpmt |
G |
A |
13: 47,194,960 (GRCm39) |
Q14* |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,228,952 (GRCm39) |
F353L |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,084,743 (GRCm39) |
V154A |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,369,052 (GRCm39) |
I1747T |
|
Het |
| Vmn1r47 |
T |
C |
6: 89,999,254 (GRCm39) |
S129P |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,524,249 (GRCm39) |
Y81C |
probably benign |
Het |
| Ybx2 |
A |
T |
11: 69,831,181 (GRCm39) |
T259S |
probably benign |
Het |
| Zfp536 |
T |
C |
7: 37,179,285 (GRCm39) |
T1107A |
probably benign |
Het |
| Zfp583 |
C |
T |
7: 6,319,585 (GRCm39) |
A476T |
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 |
|
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 |
|
|
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'- ACTGCAAAGTAAATTCATGGGTCAC -3'
(R):5'- CCCCAAAATCACAGAGTTTAAGTAGG -3'
Sequencing Primer
(F):5'- CAAAGTAAATTCATGGGTCACATCTC -3'
(R):5'- GTAGGAAGTCTACTACAAATTTGGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation