Incidental Mutation 'IGL02282:Robo1'
ID289875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Nameroundabout guidance receptor 1
SynonymsDUTT1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02282
Quality Score
Status
Chromosome16
Chromosomal Location72308306-73046095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72742138 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 41 (R41H)
Ref Sequence ENSEMBL: ENSMUSP00000156106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023600] [ENSMUST00000231580]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023600
AA Change: R23H

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: R23H

DomainStartEndE-ValueType
IGc2 41 115 3.15e-10 SMART
IGc2 143 208 2.52e-9 SMART
IGc2 235 298 3.85e-14 SMART
IGv 328 391 3.71e-7 SMART
IGc2 428 493 2.46e-12 SMART
FN3 522 604 3.17e-13 SMART
FN3 634 721 1.66e0 SMART
FN3 736 822 4.28e-10 SMART
low complexity region 1108 1125 N/A INTRINSIC
low complexity region 1148 1157 N/A INTRINSIC
low complexity region 1186 1197 N/A INTRINSIC
low complexity region 1249 1269 N/A INTRINSIC
low complexity region 1282 1298 N/A INTRINSIC
low complexity region 1345 1357 N/A INTRINSIC
low complexity region 1362 1380 N/A INTRINSIC
low complexity region 1442 1449 N/A INTRINSIC
low complexity region 1563 1576 N/A INTRINSIC
low complexity region 1602 1611 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231474
Predicted Effect probably damaging
Transcript: ENSMUST00000231580
AA Change: R41H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000232205
AA Change: R32H
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik C T 11: 78,284,228 P1730S probably benign Het
Ahnak A G 19: 9,005,987 D1545G probably damaging Het
AI481877 A C 4: 59,111,114 Y53D unknown Het
Baiap3 A C 17: 25,249,377 D234E probably benign Het
Cand1 T A 10: 119,210,709 T959S probably benign Het
Ctdspl2 A G 2: 121,977,478 probably benign Het
Cyp2a4 A C 7: 26,309,047 M205L probably benign Het
Dlx5 G A 6: 6,881,762 A42V probably damaging Het
Dnah7a A G 1: 53,643,510 I267T possibly damaging Het
Dnajb6 A G 5: 29,752,418 D66G probably damaging Het
Fgf8 T C 19: 45,737,090 H201R possibly damaging Het
Gpc1 A G 1: 92,857,967 K460E probably damaging Het
Gzme A T 14: 56,118,369 L162Q probably damaging Het
Ik G A 18: 36,745,644 G17D probably damaging Het
Il4 G A 11: 53,618,174 T59M probably damaging Het
Kcnh3 G T 15: 99,228,043 probably null Het
Mill1 G T 7: 18,263,204 probably null Het
Npbwr1 A T 1: 5,916,965 M110K possibly damaging Het
Olfr1490 T A 19: 13,655,258 D276E probably damaging Het
Olfr849 A G 9: 19,441,618 Y235C probably benign Het
Olfr881 A T 9: 37,993,022 I177F probably damaging Het
Opalin A T 19: 41,066,504 S84T probably benign Het
Pcdhb11 T C 18: 37,423,828 L737P probably damaging Het
Phip G A 9: 82,913,690 S626L probably benign Het
Ppl T C 16: 5,101,458 D435G probably damaging Het
Prss37 A G 6: 40,515,383 V178A possibly damaging Het
Ptpn7 A G 1: 135,134,834 I104V probably damaging Het
Ptprn A G 1: 75,253,156 Y700H probably damaging Het
Rab11fip5 T A 6: 85,337,552 T555S probably damaging Het
Rfwd3 A T 8: 111,293,982 probably benign Het
Rps3 A G 7: 99,479,272 probably null Het
Ruvbl2 G A 7: 45,425,165 T183I probably benign Het
Sema4c A T 1: 36,550,203 probably null Het
Taar8b T A 10: 24,091,555 K247I possibly damaging Het
Tacr3 A T 3: 134,861,073 I236F probably benign Het
Ttc21b A G 2: 66,191,737 I1168T probably damaging Het
Ttc9b A T 7: 27,655,911 D202V probably damaging Het
Vmn2r26 T G 6: 124,061,625 C720G probably damaging Het
Vmn2r37 A G 7: 9,206,762 S584P probably benign Het
Wnk2 T A 13: 49,068,125 D1208V probably damaging Het
Zfp988 T A 4: 147,331,668 C186* probably null Het
Zp3 A G 5: 135,984,351 N179S possibly damaging Het
Other mutations in Robo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Robo1 APN 16 73004665 missense probably benign 0.00
IGL01937:Robo1 APN 16 72962226 missense probably damaging 1.00
IGL01945:Robo1 APN 16 72962226 missense probably damaging 1.00
IGL02151:Robo1 APN 16 72989616 missense probably benign 0.00
IGL02232:Robo1 APN 16 72971984 missense possibly damaging 0.59
IGL02590:Robo1 APN 16 73043132 missense probably benign 0.06
IGL02874:Robo1 APN 16 73012918 missense probably damaging 0.96
IGL02974:Robo1 APN 16 73006862 missense probably benign 0.09
IGL03233:Robo1 APN 16 72970193 missense probably damaging 0.99
PIT4378001:Robo1 UTSW 16 73004535 missense probably damaging 1.00
R0079:Robo1 UTSW 16 72933342 splice site probably benign
R0254:Robo1 UTSW 16 72664170 missense probably benign 0.00
R0366:Robo1 UTSW 16 72742245 missense possibly damaging 0.52
R0410:Robo1 UTSW 16 72971984 missense possibly damaging 0.59
R0511:Robo1 UTSW 16 73013125 critical splice donor site probably null
R0563:Robo1 UTSW 16 72972286 missense probably benign 0.01
R0637:Robo1 UTSW 16 73001951 missense probably benign 0.29
R1239:Robo1 UTSW 16 73024542 splice site probably null
R1773:Robo1 UTSW 16 73004511 missense probably benign 0.00
R1777:Robo1 UTSW 16 73004667 missense probably benign
R1901:Robo1 UTSW 16 72960204 missense probably null 1.00
R1902:Robo1 UTSW 16 72960204 missense probably null 1.00
R1903:Robo1 UTSW 16 72960204 missense probably null 1.00
R1996:Robo1 UTSW 16 72970179 missense probably benign 0.40
R2040:Robo1 UTSW 16 72933742 missense probably damaging 1.00
R2266:Robo1 UTSW 16 72978772 missense probably benign
R2269:Robo1 UTSW 16 72978772 missense probably benign
R2433:Robo1 UTSW 16 72970239 missense probably benign 0.01
R3084:Robo1 UTSW 16 73004737 missense probably benign 0.02
R3085:Robo1 UTSW 16 73002010 missense possibly damaging 0.81
R3150:Robo1 UTSW 16 72970269 missense possibly damaging 0.57
R3418:Robo1 UTSW 16 73035917 missense probably benign 0.00
R3610:Robo1 UTSW 16 72983770 missense probably benign 0.00
R3940:Robo1 UTSW 16 73009743 missense probably benign
R3953:Robo1 UTSW 16 73024338 missense probably damaging 1.00
R4692:Robo1 UTSW 16 72960202 missense probably damaging 1.00
R4726:Robo1 UTSW 16 72972043 missense probably damaging 1.00
R4814:Robo1 UTSW 16 72972035 missense probably benign 0.11
R4884:Robo1 UTSW 16 72904751 missense probably damaging 1.00
R4992:Robo1 UTSW 16 72979868 missense probably damaging 0.98
R5150:Robo1 UTSW 16 72972304 missense possibly damaging 0.79
R5183:Robo1 UTSW 16 72742150 missense probably benign 0.03
R5360:Robo1 UTSW 16 72935777 missense probably damaging 0.96
R5629:Robo1 UTSW 16 72983710 missense probably benign 0.33
R5804:Robo1 UTSW 16 73043189 critical splice donor site probably null
R6107:Robo1 UTSW 16 72983829 missense probably benign 0.00
R6127:Robo1 UTSW 16 73013068 missense probably benign
R6128:Robo1 UTSW 16 73013068 missense probably benign
R6129:Robo1 UTSW 16 73013068 missense probably benign
R6191:Robo1 UTSW 16 72933808 missense probably benign 0.00
R6357:Robo1 UTSW 16 72970302 missense probably benign 0.00
R6408:Robo1 UTSW 16 72972046 missense probably benign 0.00
R6516:Robo1 UTSW 16 73024353 missense probably benign 0.14
R6600:Robo1 UTSW 16 72989655 missense probably damaging 1.00
R6802:Robo1 UTSW 16 72933313 missense probably benign 0.17
R7105:Robo1 UTSW 16 72742161 missense probably damaging 1.00
R7189:Robo1 UTSW 16 72960151 nonsense probably null
R7290:Robo1 UTSW 16 73004520 missense probably benign 0.03
Posted On2015-04-16