Incidental Mutation 'R5374:Astn2'
ID 428922
Institutional Source Beutler Lab
Gene Symbol Astn2
Ensembl Gene ENSMUSG00000028373
Gene Name astrotactin 2
Synonyms 1d8, Astnl
MMRRC Submission 042950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5374 (G1)
Quality Score 218
Status Validated
Chromosome 4
Chromosomal Location 65299040-66322774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 65315242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 1145 (V1145G)
Ref Sequence ENSEMBL: ENSMUSP00000081540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068214] [ENSMUST00000084496]
AlphaFold Q80Z10
Predicted Effect unknown
Transcript: ENSMUST00000068214
AA Change: V1197G
SMART Domains Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: V1197G

DomainStartEndE-ValueType
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: V1145G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: V1145G

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1525 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (81/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Babam2 C T 5: 32,164,574 (GRCm39) probably benign Het
Blvrb A G 7: 27,165,271 (GRCm39) H238R possibly damaging Het
Cacna1b C T 2: 24,596,228 (GRCm39) V488I probably damaging Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Clcn2 C A 16: 20,528,419 (GRCm39) G478W possibly damaging Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cox7c T C 13: 86,194,739 (GRCm39) Y19C probably benign Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dock5 A G 14: 68,043,205 (GRCm39) V864A possibly damaging Het
Dock7 A G 4: 98,877,275 (GRCm39) F1088L possibly damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Entpd2 C T 2: 25,289,738 (GRCm39) T380I probably damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Ginm1 A G 10: 7,655,078 (GRCm39) S55P probably damaging Het
Glt1d1 C A 5: 127,734,148 (GRCm39) probably null Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm8221 A G 15: 77,510,352 (GRCm39) noncoding transcript Het
Gramd1c A G 16: 43,803,604 (GRCm39) V603A probably benign Het
Grm1 A G 10: 10,956,186 (GRCm39) S33P probably benign Het
Gstp3 T C 19: 4,107,922 (GRCm39) N137S possibly damaging Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Nom1 C G 5: 29,646,377 (GRCm39) R555G probably damaging Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,427,434 (GRCm39) probably benign Het
Or52e18 G T 7: 104,609,203 (GRCm39) H245Q probably damaging Het
Or5p52 T C 7: 107,502,698 (GRCm39) I258T possibly damaging Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rangap1 A T 15: 81,590,695 (GRCm39) S466T probably benign Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rhobtb3 T C 13: 76,027,014 (GRCm39) Y453C probably damaging Het
Rspry1 T C 8: 95,349,636 (GRCm39) V8A probably benign Het
Rspry1 C A 8: 95,380,892 (GRCm39) R399S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Sap18b G A 8: 96,551,998 (GRCm39) A3T unknown Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Skint3 T A 4: 112,155,386 (GRCm39) D381E possibly damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Tcf20 A T 15: 82,736,158 (GRCm39) N1764K probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Ticrr T G 7: 79,340,690 (GRCm39) Y1031* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Trpm3 C T 19: 22,903,548 (GRCm39) R945* probably null Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Ush2a C T 1: 188,487,403 (GRCm39) T3057M probably benign Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging Het
Other mutations in Astn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGATGCTGGTAGTTCATCTCC -3'
(R):5'- ACACATAGCTTAGGGATTTCTGAG -3'

Sequencing Primer
(F):5'- ATGCTGGTAGTTCATCTCCATTAG -3'
(R):5'- CTGAGTTCTTGGGAGCGTTCC -3'
Posted On 2016-09-06