Incidental Mutation 'R0015:Astn2'
ID 64891
Institutional Source Beutler Lab
Gene Symbol Astn2
Ensembl Gene ENSMUSG00000028373
Gene Name astrotactin 2
Synonyms 1d8, Astnl
MMRRC Submission 038310-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R0015 (G1)
Quality Score 147
Status Validated
Chromosome 4
Chromosomal Location 65299040-66322774 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to G at 66184619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068214] [ENSMUST00000068214] [ENSMUST00000068214] [ENSMUST00000084496] [ENSMUST00000084496] [ENSMUST00000084496]
AlphaFold Q80Z10
Predicted Effect probably null
Transcript: ENSMUST00000068214
SMART Domains Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373

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 null
Transcript: ENSMUST00000068214
SMART Domains Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373

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 null
Transcript: ENSMUST00000068214
SMART Domains Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373

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 null
Transcript: ENSMUST00000084496
SMART Domains Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373

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
Predicted Effect probably null
Transcript: ENSMUST00000084496
SMART Domains Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373

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
Predicted Effect probably null
Transcript: ENSMUST00000084496
SMART Domains Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373

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 0.9494 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 97% (71/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130050O07Rik A G 1: 137,856,394 (GRCm39) Y23C unknown Het
Adcy3 G A 12: 4,245,260 (GRCm39) probably null Het
Aldh6a1 G A 12: 84,488,554 (GRCm39) L86F probably damaging Het
Arl10 G T 13: 54,723,770 (GRCm39) probably benign Het
Armc3 A G 2: 19,301,132 (GRCm39) probably null Het
Cacna1d G A 14: 29,836,928 (GRCm39) T804I probably benign Het
Ccny A C 18: 9,316,682 (GRCm39) probably benign Het
Cdh5 C T 8: 104,867,559 (GRCm39) T612I probably benign Het
Cfap58 A G 19: 48,017,539 (GRCm39) M800V probably benign Het
Clrn1 A T 3: 58,753,848 (GRCm39) I171K probably damaging Het
Cnp T A 11: 100,469,734 (GRCm39) probably null Het
Col12a1 T C 9: 79,558,667 (GRCm39) T1933A probably damaging Het
Cplane1 G A 15: 8,215,668 (GRCm39) R408H probably damaging Het
Cwf19l2 A G 9: 3,454,666 (GRCm39) S660G probably benign Het
Dync1i2 C A 2: 71,044,828 (GRCm39) R13S probably damaging Het
Eps8l1 A T 7: 4,480,556 (GRCm39) probably benign Het
Espn T C 4: 152,223,609 (GRCm39) T188A possibly damaging Het
F2 T C 2: 91,460,952 (GRCm39) E260G probably benign Het
Fat4 T A 3: 39,036,652 (GRCm39) S3435T probably damaging Het
Fchsd1 A G 18: 38,096,012 (GRCm39) C533R probably benign Het
Fstl5 G A 3: 76,229,498 (GRCm39) V100M probably damaging Het
Gls2 T G 10: 128,045,219 (GRCm39) L572R probably damaging Het
Gm20939 A T 17: 95,184,196 (GRCm39) E281D probably benign Het
Gpr35 T G 1: 92,910,954 (GRCm39) L222W probably damaging Het
Hsf5 C A 11: 87,548,161 (GRCm39) H615N probably benign Het
Id2 C T 12: 25,145,802 (GRCm39) D70N probably damaging Het
Ints2 T C 11: 86,140,113 (GRCm39) T240A probably damaging Het
Kcnn3 A C 3: 89,570,080 (GRCm39) D631A probably damaging Het
Klhdc8a A G 1: 132,230,743 (GRCm39) T203A probably damaging Het
Lama4 C T 10: 38,951,432 (GRCm39) T1059M possibly damaging Het
Lgals8 A G 13: 12,462,179 (GRCm39) L226P probably damaging Het
Lifr T A 15: 7,217,667 (GRCm39) probably null Het
Lonp1 T A 17: 56,925,406 (GRCm39) Q462L probably benign Het
Lypd1 A G 1: 125,838,175 (GRCm39) V48A possibly damaging Het
Mapkapk2 A G 1: 131,025,063 (GRCm39) I67T possibly damaging Het
Mbd3l1 A T 9: 18,396,154 (GRCm39) D93V probably benign Het
Mdh1b T C 1: 63,760,959 (GRCm39) probably benign Het
Myh7b C T 2: 155,464,206 (GRCm39) P569L probably damaging Het
Ncapd3 C A 9: 26,963,105 (GRCm39) A470E probably damaging Het
Ndrg2 A G 14: 52,147,902 (GRCm39) probably benign Het
Nprl2 A T 9: 107,421,618 (GRCm39) I209F probably damaging Het
Ntrk1 A G 3: 87,699,057 (GRCm39) probably benign Het
Olfm2 T C 9: 20,580,037 (GRCm39) E268G probably damaging Het
Or8b37 T A 9: 37,958,963 (GRCm39) Y148* probably null Het
Pcf11 T A 7: 92,307,525 (GRCm39) H881L probably benign Het
Pde10a A G 17: 9,196,029 (GRCm39) D640G probably damaging Het
Pde9a G A 17: 31,605,330 (GRCm39) probably null Het
Pianp G T 6: 124,978,503 (GRCm39) G236V probably damaging Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Ppp1r3a A G 6: 14,717,660 (GRCm39) S1085P possibly damaging Het
Pter G A 2: 13,005,811 (GRCm39) G328D probably damaging Het
Rad51 T A 2: 118,946,808 (GRCm39) M5K probably benign Het
Rbm43 T A 2: 51,815,679 (GRCm39) I181F probably benign Het
Rgs12 T C 5: 35,180,120 (GRCm39) probably benign Het
Rnf213 A C 11: 119,332,432 (GRCm39) D2547A possibly damaging Het
Slc20a2 C A 8: 23,025,361 (GRCm39) A21E probably damaging Het
Stab2 A G 10: 86,679,481 (GRCm39) S2503P probably benign Het
Sv2b A T 7: 74,775,389 (GRCm39) F479L probably damaging Het
Sybu T C 15: 44,536,896 (GRCm39) R349G probably damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Tnrc6c T A 11: 117,612,284 (GRCm39) N307K probably damaging Het
Ubxn11 C G 4: 133,843,336 (GRCm39) probably null Het
Ust T C 10: 8,205,829 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,620,823 (GRCm39) N852K probably benign Het
Zgrf1 T C 3: 127,349,046 (GRCm39) probably benign 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
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
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'- CATGCTCAGGTACTCACCATCACAG -3'
(R):5'- TGAAGATCAAGTGTTGCCTCTCGTC -3'

Sequencing Primer
(F):5'- TCACCATCACAGAAATGTGGAG -3'
(R):5'- CGTCTTGTGTTACTTGAGAAATATCG -3'
Posted On 2013-08-06