Incidental Mutation 'R1700:Astn2'
| ID |
189635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn2
|
| Ensembl Gene |
ENSMUSG00000028373 |
| Gene Name |
astrotactin 2 |
| Synonyms |
1d8, Astnl |
| MMRRC Submission |
039733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R1700 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 65664591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 679
(Q679*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068214]
[ENSMUST00000084496]
|
| AlphaFold |
Q80Z10 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068214
AA Change: Q731*
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: Q731*
| 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 null
Transcript: ENSMUST00000084496
AA Change: Q679*
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: Q679*
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,899,537 (GRCm39) |
F936L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,152,143 (GRCm39) |
I211N |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alas1 |
C |
T |
9: 106,116,845 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,580,244 (GRCm39) |
Y569H |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,603 (GRCm39) |
D1190G |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,062,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,468,302 (GRCm39) |
K279E |
probably damaging |
Het |
| C2cd2l |
G |
A |
9: 44,227,909 (GRCm39) |
P111S |
probably benign |
Het |
| C7 |
T |
A |
15: 5,032,274 (GRCm39) |
K646* |
probably null |
Het |
| Ccp110 |
C |
T |
7: 118,334,536 (GRCm39) |
T1003I |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 165,012,716 (GRCm39) |
D123G |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,433 (GRCm39) |
V722A |
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,592,901 (GRCm39) |
F174S |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 63,688,551 (GRCm39) |
C332R |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,495,714 (GRCm39) |
N76K |
probably damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,551,858 (GRCm39) |
L1010F |
probably damaging |
Het |
| Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
| Efcab10 |
A |
G |
12: 33,445,170 (GRCm39) |
T28A |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,850 (GRCm39) |
R103G |
probably damaging |
Het |
| Exosc2 |
A |
G |
2: 31,560,818 (GRCm39) |
K23E |
probably benign |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,822,081 (GRCm39) |
V5938A |
probably benign |
Het |
| Gclc |
A |
G |
9: 77,683,571 (GRCm39) |
T143A |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,623 (GRCm39) |
V407A |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,122,884 (GRCm39) |
M497K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,357,960 (GRCm39) |
|
probably null |
Het |
| Hnrnpll |
A |
C |
17: 80,341,534 (GRCm39) |
S502A |
probably benign |
Het |
| Ipo11 |
G |
T |
13: 106,932,170 (GRCm39) |
T975N |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,990,009 (GRCm39) |
Q66* |
probably null |
Het |
| Lrp10 |
T |
C |
14: 54,707,209 (GRCm39) |
V682A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,677 (GRCm39) |
L75Q |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,735,169 (GRCm39) |
Y430N |
probably benign |
Het |
| Med8 |
C |
T |
4: 118,269,931 (GRCm39) |
S72L |
possibly damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,682 (GRCm39) |
T253A |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,329,220 (GRCm39) |
K242E |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,587 (GRCm39) |
Y31F |
probably benign |
Het |
| Ndufa12 |
T |
A |
10: 94,035,855 (GRCm39) |
Y48N |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,653,329 (GRCm39) |
Y282* |
probably null |
Het |
| Or5as1 |
T |
G |
2: 86,980,123 (GRCm39) |
N294T |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,610,639 (GRCm39) |
T1858A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,618,651 (GRCm39) |
L2P |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,214,241 (GRCm39) |
R1642H |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,990 (GRCm39) |
M213K |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,965,041 (GRCm39) |
N709S |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,999 (GRCm39) |
W308R |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,076,539 (GRCm39) |
I208N |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,330,864 (GRCm39) |
F156I |
probably damaging |
Het |
| Rpusd3 |
A |
G |
6: 113,392,494 (GRCm39) |
*345Q |
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,276,178 (GRCm39) |
K575R |
probably benign |
Het |
| Shd |
G |
A |
17: 56,281,307 (GRCm39) |
V250I |
probably damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,834,296 (GRCm39) |
N749K |
possibly damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,254,021 (GRCm39) |
V488D |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Srsf4 |
C |
A |
4: 131,627,871 (GRCm39) |
|
probably benign |
Het |
| Strn |
T |
C |
17: 78,999,831 (GRCm39) |
Y135C |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,409,376 (GRCm39) |
M1V |
probably null |
Het |
| Tas1r3 |
T |
G |
4: 155,946,027 (GRCm39) |
Q489P |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,774 (GRCm39) |
N97K |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,755 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,268,446 (GRCm39) |
E112G |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,966,055 (GRCm39) |
S1128G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,279,025 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,434,018 (GRCm39) |
D121G |
probably damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,180,023 (GRCm39) |
I56V |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,662,949 (GRCm39) |
I348M |
probably damaging |
Het |
| Usp21 |
C |
A |
1: 171,111,295 (GRCm39) |
L379F |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,390 (GRCm39) |
H214L |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,341,900 (GRCm39) |
E93G |
unknown |
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 |
|
|
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 |
|
|
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'- GCACACCGAATTGGGTATGAAGCA -3'
(R):5'- TTGACTTCTGGACCCCATCTGTGTA -3'
Sequencing Primer
(F):5'- AAGAAGCAAAAGGCCATATCCTTG -3'
(R):5'- TATAGGAAAGATGGAACCTGCCAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation