Incidental Mutation 'R5694:Astn2'
| ID |
443810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn2
|
| Ensembl Gene |
ENSMUSG00000028373 |
| Gene Name |
astrotactin 2 |
| Synonyms |
1d8, Astnl |
| MMRRC Submission |
043325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65868375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 488
(D488G)
|
| 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: D540G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: D540G
| 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: D488G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: D488G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,546,673 (GRCm39) |
I1353N |
probably damaging |
Het |
| Actr1a |
C |
A |
19: 46,384,157 (GRCm39) |
|
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,065,431 (GRCm39) |
M356K |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,971,736 (GRCm39) |
H7R |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,628 (GRCm39) |
V134A |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Cat |
A |
T |
2: 103,303,339 (GRCm39) |
V146E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,027,324 (GRCm39) |
V2144A |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 77,079,701 (GRCm39) |
D15A |
probably benign |
Het |
| Epha10 |
C |
T |
4: 124,796,446 (GRCm39) |
A385V |
unknown |
Het |
| Erg |
C |
A |
16: 95,161,890 (GRCm39) |
E388D |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,035,970 (GRCm39) |
I931F |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,912,353 (GRCm39) |
L673P |
probably damaging |
Het |
| Gm4922 |
A |
C |
10: 18,660,035 (GRCm39) |
I229S |
possibly damaging |
Het |
| Gnptab |
T |
A |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Htr7 |
T |
C |
19: 36,034,521 (GRCm39) |
M45V |
probably benign |
Het |
| Hycc1 |
C |
A |
5: 24,196,794 (GRCm39) |
L31F |
probably damaging |
Het |
| Igkv4-51 |
C |
T |
6: 69,658,911 (GRCm39) |
V5M |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,318,730 (GRCm39) |
E156K |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,671,507 (GRCm39) |
T932A |
probably benign |
Het |
| Mapk1 |
T |
G |
16: 16,836,333 (GRCm39) |
D160E |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,910,701 (GRCm39) |
Y479* |
probably null |
Het |
| Meig1 |
T |
A |
2: 3,412,999 (GRCm39) |
K7N |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,985,239 (GRCm39) |
D548E |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,606 (GRCm39) |
R1386G |
probably benign |
Het |
| Nphs2 |
T |
C |
1: 156,153,607 (GRCm39) |
S353P |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,644 (GRCm39) |
F177L |
probably benign |
Het |
| Or8b1 |
T |
A |
9: 38,399,532 (GRCm39) |
I69K |
probably damaging |
Het |
| Pcdha9 |
G |
T |
18: 37,131,425 (GRCm39) |
V165L |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,196,228 (GRCm39) |
S305T |
possibly damaging |
Het |
| Phf14 |
C |
A |
6: 11,990,124 (GRCm39) |
L718I |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rab44 |
T |
A |
17: 29,364,940 (GRCm39) |
M645K |
unknown |
Het |
| Rab44 |
T |
C |
17: 29,359,474 (GRCm39) |
L554P |
probably damaging |
Het |
| Rnf222 |
A |
G |
11: 68,783,723 (GRCm39) |
T97A |
probably benign |
Het |
| Rnpepl1 |
T |
C |
1: 92,846,663 (GRCm39) |
S522P |
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,825,302 (GRCm39) |
I244V |
probably benign |
Het |
| Serpinb10 |
A |
T |
1: 107,463,187 (GRCm39) |
|
probably null |
Het |
| Siglech |
T |
A |
7: 55,418,404 (GRCm39) |
F124Y |
probably damaging |
Het |
| Smarcc2 |
A |
T |
10: 128,319,996 (GRCm39) |
I790L |
probably benign |
Het |
| Sos2 |
C |
A |
12: 69,637,689 (GRCm39) |
R1007S |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,942,484 (GRCm39) |
T372M |
possibly damaging |
Het |
| Tbc1d10c |
A |
T |
19: 4,234,963 (GRCm39) |
L366H |
probably damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,932 (GRCm39) |
T324A |
probably benign |
Het |
| Trim12a |
C |
A |
7: 103,956,450 (GRCm39) |
C30F |
probably damaging |
Het |
| Ttll3 |
G |
A |
6: 113,376,669 (GRCm39) |
V350M |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,218,737 (GRCm39) |
D63E |
probably damaging |
Het |
| Unc5b |
G |
A |
10: 60,609,526 (GRCm39) |
T590I |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
C |
3: 159,545,624 (GRCm39) |
I16L |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,919 (GRCm39) |
I612M |
probably benign |
Het |
| Zfp677 |
C |
A |
17: 21,618,021 (GRCm39) |
D359E |
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 |
|
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'- CCTGAACTTCTGAGGCTTTCTAAG -3'
(R):5'- ATGACTCTGACACTGGGGAG -3'
Sequencing Primer
(F):5'- CTGAGGCTTTCTAAGAAGTACCTTC -3'
(R):5'- CTCTGACACTGGGGAGAAGGTAAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation