Incidental Mutation 'R8815:Astn2'
| ID |
672653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn2
|
| Ensembl Gene |
ENSMUSG00000028373 |
| Gene Name |
astrotactin 2 |
| Synonyms |
1d8, Astnl |
| MMRRC Submission |
068650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R8815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65830834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 585
(L585Q)
|
| 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: L585Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: L585Q
| 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: L533Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: L533Q
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
99% (70/71) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
A |
T |
1: 57,421,943 (GRCm39) |
Q106H |
probably damaging |
Het |
| Acad9 |
T |
C |
3: 36,139,590 (GRCm39) |
C397R |
probably damaging |
Het |
| Ankfn1 |
T |
G |
11: 89,282,602 (GRCm39) |
R348S |
probably damaging |
Het |
| Ankrd61 |
A |
G |
5: 143,831,336 (GRCm39) |
C28R |
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,194,548 (GRCm39) |
R94* |
probably null |
Het |
| Apela |
A |
T |
8: 65,489,590 (GRCm39) |
F10I |
unknown |
Het |
| Arhgap31 |
T |
C |
16: 38,429,790 (GRCm39) |
S362G |
probably benign |
Het |
| Arhgef18 |
C |
A |
8: 3,430,410 (GRCm39) |
H94Q |
probably benign |
Het |
| Atf3 |
G |
T |
1: 190,909,564 (GRCm39) |
A35D |
probably benign |
Het |
| Atp10b |
A |
T |
11: 43,093,978 (GRCm39) |
R507S |
possibly damaging |
Het |
| Brip1 |
A |
C |
11: 86,080,598 (GRCm39) |
V156G |
probably benign |
Het |
| Ccdc27 |
T |
A |
4: 154,111,205 (GRCm39) |
M636L |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,493,285 (GRCm39) |
N769K |
possibly damaging |
Het |
| Cklf |
C |
T |
8: 104,977,560 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,870,546 (GRCm39) |
V474M |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,673,834 (GRCm39) |
C1091* |
probably null |
Het |
| Eef1akmt4 |
T |
A |
16: 20,437,288 (GRCm39) |
I210N |
possibly damaging |
Het |
| Fbxo38 |
A |
T |
18: 62,666,587 (GRCm39) |
H195Q |
probably damaging |
Het |
| Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
| Fes |
A |
G |
7: 80,033,619 (GRCm39) |
S211P |
possibly damaging |
Het |
| Fry |
G |
T |
5: 150,317,603 (GRCm39) |
R861L |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,113,908 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
G |
A |
2: 154,866,538 (GRCm39) |
W165* |
probably null |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,497,079 (GRCm39) |
V488A |
probably benign |
Het |
| Haus8 |
A |
T |
8: 71,705,910 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
T |
10: 119,948,692 (GRCm39) |
C26S |
possibly damaging |
Het |
| Icam1 |
A |
T |
9: 20,937,862 (GRCm39) |
I300F |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,918,211 (GRCm39) |
N181S |
probably benign |
Het |
| Itga2b |
C |
A |
11: 102,351,687 (GRCm39) |
R546L |
possibly damaging |
Het |
| Kif27 |
A |
T |
13: 58,476,818 (GRCm39) |
Y611N |
probably damaging |
Het |
| Lpcat2 |
A |
G |
8: 93,640,979 (GRCm39) |
I475V |
possibly damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,487 (GRCm39) |
K517R |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,555,171 (GRCm39) |
I4085N |
|
Het |
| Lrrc32 |
T |
A |
7: 98,148,242 (GRCm39) |
S341T |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,831 (GRCm39) |
I632K |
possibly damaging |
Het |
| Mettl22 |
A |
G |
16: 8,300,178 (GRCm39) |
Q194R |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,057,394 (GRCm39) |
V623E |
probably damaging |
Het |
| Mitd1 |
T |
C |
1: 37,929,315 (GRCm39) |
D26G |
probably damaging |
Het |
| Myo1a |
C |
T |
10: 127,546,043 (GRCm39) |
T222M |
probably benign |
Het |
| Naf1 |
A |
G |
8: 67,317,333 (GRCm39) |
K275R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,332,491 (GRCm39) |
L765P |
probably damaging |
Het |
| Or12k7 |
G |
T |
2: 36,958,429 (GRCm39) |
M37I |
probably benign |
Het |
| Or52a5 |
A |
G |
7: 103,427,063 (GRCm39) |
L163P |
possibly damaging |
Het |
| Or5ac16 |
T |
A |
16: 59,022,264 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or9r3 |
T |
A |
10: 129,947,808 (GRCm39) |
I284F |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,099,347 (GRCm39) |
H622R |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,442,055 (GRCm39) |
Y455F |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,671,116 (GRCm39) |
Y220C |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,607,381 (GRCm39) |
I172T |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,853,893 (GRCm39) |
H415Q |
probably damaging |
Het |
| Pp2d1 |
A |
T |
17: 53,814,897 (GRCm39) |
M609K |
probably benign |
Het |
| Ppm1m |
G |
A |
9: 106,076,237 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
| Ptprf |
C |
A |
4: 118,095,125 (GRCm39) |
V254L |
possibly damaging |
Het |
| Ripply3 |
A |
G |
16: 94,136,723 (GRCm39) |
E128G |
possibly damaging |
Het |
| Rrm2 |
A |
C |
12: 24,760,470 (GRCm39) |
I185L |
possibly damaging |
Het |
| Sbsn |
T |
A |
7: 30,454,227 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
T |
A |
4: 130,546,336 (GRCm39) |
S232T |
probably benign |
Het |
| Slx4 |
G |
C |
16: 3,803,458 (GRCm39) |
P1119A |
probably benign |
Het |
| Smc5 |
C |
T |
19: 23,221,422 (GRCm39) |
R369Q |
probably damaging |
Het |
| Speer4a3 |
A |
G |
5: 26,158,191 (GRCm39) |
S54P |
probably damaging |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,106,657 (GRCm39) |
Q924* |
probably null |
Het |
| Srcap |
G |
C |
7: 127,158,037 (GRCm39) |
D2638H |
unknown |
Het |
| Srsf12 |
T |
C |
4: 33,226,045 (GRCm39) |
S103P |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
| Them4 |
C |
T |
3: 94,231,610 (GRCm39) |
T149I |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 56,970,312 (GRCm39) |
Y424C |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,628,364 (GRCm39) |
D14599N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,698,244 (GRCm39) |
L186H |
|
Het |
| Usp17lc |
T |
C |
7: 103,067,524 (GRCm39) |
F273S |
probably benign |
Het |
| Vwa5b2 |
T |
C |
16: 20,419,516 (GRCm39) |
S620P |
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 |
|
|
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 |
|
|
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'- AGGCCATAATACTGCATCAGTG -3'
(R):5'- ATGTTGAGTCCTCTGTAAAGTGC -3'
Sequencing Primer
(F):5'- CATCAGTGCCAGTGAGAGTGC -3'
(R):5'- GAGTCCTCTGTAAAGTGCCTAAGAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation