Incidental Mutation 'R6232:Robo3'
ID 504684
Institutional Source Beutler Lab
Gene Symbol Robo3
Ensembl Gene ENSMUSG00000032128
Gene Name roundabout guidance receptor 3
Synonyms Robo3a, Rbig1, Rig1, Rig-1, Robo3b
MMRRC Submission 044360-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6232 (G1)
Quality Score 146.008
Status Validated
Chromosome 9
Chromosomal Location 37327341-37344730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37332225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 891 (Y891S)
Ref Sequence ENSEMBL: ENSMUSP00000150639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034643] [ENSMUST00000115038] [ENSMUST00000170512]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034643
AA Change: Y891S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034643
Gene: ENSMUSG00000032128
AA Change: Y891S

DomainStartEndE-ValueType
IGc2 54 128 9.7e-11 SMART
IGc2 156 221 1.44e-4 SMART
IGc2 248 311 1.89e-13 SMART
IGc2 337 409 9.84e-12 SMART
IGc2 441 506 2.09e-15 SMART
FN3 534 616 4.24e-14 SMART
FN3 648 731 3.06e0 SMART
FN3 747 832 1.97e-9 SMART
low complexity region 870 890 N/A INTRINSIC
low complexity region 1055 1082 N/A INTRINSIC
low complexity region 1131 1149 N/A INTRINSIC
low complexity region 1155 1169 N/A INTRINSIC
low complexity region 1193 1206 N/A INTRINSIC
low complexity region 1245 1256 N/A INTRINSIC
low complexity region 1268 1281 N/A INTRINSIC
low complexity region 1336 1376 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115038
AA Change: Y913S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110690
Gene: ENSMUSG00000032128
AA Change: Y913S

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
IGc2 76 150 9.7e-11 SMART
IGc2 178 243 1.44e-4 SMART
IGc2 270 333 1.89e-13 SMART
IGc2 359 431 9.84e-12 SMART
IGc2 463 528 2.09e-15 SMART
FN3 556 638 4.24e-14 SMART
FN3 670 753 3.06e0 SMART
FN3 769 854 1.97e-9 SMART
low complexity region 892 912 N/A INTRINSIC
low complexity region 1077 1104 N/A INTRINSIC
low complexity region 1153 1171 N/A INTRINSIC
low complexity region 1177 1191 N/A INTRINSIC
low complexity region 1215 1228 N/A INTRINSIC
low complexity region 1267 1278 N/A INTRINSIC
low complexity region 1290 1303 N/A INTRINSIC
low complexity region 1358 1398 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167216
Predicted Effect probably damaging
Transcript: ENSMUST00000170512
AA Change: Y891S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171467
Meta Mutation Damage Score 0.3105 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 94% (64/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,268,933 (GRCm39) V198A possibly damaging Het
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgra2 A T 8: 27,609,193 (GRCm39) M805L probably benign Het
Arhgap39 T C 15: 76,620,712 (GRCm39) S630G probably damaging Het
Bcl3 T A 7: 19,546,409 (GRCm39) N142I probably damaging Het
Cfap210 C T 2: 69,602,398 (GRCm39) E338K possibly damaging Het
Chuk A T 19: 44,085,431 (GRCm39) D238E probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Cyp2j8 A T 4: 96,395,427 (GRCm39) L66Q possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dst T A 1: 34,227,253 (GRCm39) D1290E probably damaging Het
Dysf T C 6: 84,075,235 (GRCm39) I583T probably benign Het
Eif1ad13 A T 12: 87,762,351 (GRCm39) R24* probably null Het
Fbxl2 T A 9: 113,815,516 (GRCm39) D249V probably damaging Het
Fbxo30 A T 10: 11,165,602 (GRCm39) Y108F possibly damaging Het
Fibin G T 2: 110,193,041 (GRCm39) H34N probably damaging Het
Gabrr1 A G 4: 33,161,632 (GRCm39) I319V probably benign Het
Gfm1 G T 3: 67,375,215 (GRCm39) L559F possibly damaging Het
Gm5134 T A 10: 75,821,859 (GRCm39) L231Q possibly damaging Het
Grm5 A G 7: 87,251,638 (GRCm39) probably benign Het
Hbs1l T A 10: 21,183,657 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Inpp4b A G 8: 82,678,813 (GRCm39) Q281R probably damaging Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Ldlrap1 C T 4: 134,486,345 (GRCm39) R38Q possibly damaging Het
Lepr A G 4: 101,671,588 (GRCm39) probably null Het
Map3k12 A G 15: 102,412,081 (GRCm39) S328P probably damaging Het
Mrpl2 T C 17: 46,958,356 (GRCm39) V46A probably benign Het
Muc16 A T 9: 18,568,294 (GRCm39) N1408K unknown Het
Myh7 T A 14: 55,226,753 (GRCm39) Q366L probably benign Het
Nbeal2 A G 9: 110,467,802 (GRCm39) V462A probably damaging Het
Nradd G T 9: 110,450,655 (GRCm39) T174N probably damaging Het
Nup155 T C 15: 8,138,963 (GRCm39) S12P probably benign Het
Obscn C A 11: 58,943,337 (GRCm39) E4832* probably null Het
Opn3 G A 1: 175,490,669 (GRCm39) R331W probably damaging Het
Or2ag15 A T 7: 106,340,761 (GRCm39) C127S probably damaging Het
Or2w3 T A 11: 58,556,757 (GRCm39) V124E possibly damaging Het
Or4a66 G T 2: 88,531,161 (GRCm39) H171N probably benign Het
Or52ae9 T A 7: 103,389,661 (GRCm39) H262L probably damaging Het
Or5b120 G A 19: 13,480,427 (GRCm39) C240Y probably damaging Het
Or6b2 T C 1: 92,408,305 (GRCm39) I13V probably benign Het
Phip A G 9: 82,785,234 (GRCm39) V827A probably benign Het
Phldb1 G A 9: 44,607,414 (GRCm39) R1264W probably damaging Het
Pibf1 T G 14: 99,424,014 (GRCm39) I529S probably benign Het
Pkp1 T A 1: 135,814,599 (GRCm39) I241F probably benign Het
Pla2g4f G T 2: 120,132,702 (GRCm39) D711E possibly damaging Het
Pold1 A G 7: 44,190,266 (GRCm39) probably null Het
Pold2 T C 11: 5,823,691 (GRCm39) S287G probably benign Het
Prg4 T C 1: 150,331,567 (GRCm39) probably benign Het
Prl8a1 T C 13: 27,759,557 (GRCm39) E160G possibly damaging Het
Rfc4 C T 16: 22,932,840 (GRCm39) probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph14 G A 10: 74,797,520 (GRCm39) R156W probably benign Het
Sec61a1 T C 6: 88,482,150 (GRCm39) Y457C probably benign Het
Sec63 T A 10: 42,704,861 (GRCm39) probably null Het
Spen T C 4: 141,244,333 (GRCm39) E234G unknown Het
Sphkap T A 1: 83,258,200 (GRCm39) E181V probably damaging Het
Stau2 C T 1: 16,445,035 (GRCm39) A298T probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbc1d23 T C 16: 56,990,796 (GRCm39) I661V probably benign Het
Thoc6 A C 17: 23,889,295 (GRCm39) probably null Het
Trpv1 T A 11: 73,141,636 (GRCm39) M553K possibly damaging Het
Ttn T C 2: 76,641,579 (GRCm39) I11760V probably benign Het
Vmn1r61 G A 7: 5,613,850 (GRCm39) H155Y probably damaging Het
Vmn2r41 A G 7: 8,153,214 (GRCm39) probably null Het
Vmn2r74 A G 7: 85,607,498 (GRCm39) I75T possibly damaging Het
Wwp2 C A 8: 108,232,977 (GRCm39) T205K probably benign Het
Zfp1003 A T 2: 177,546,195 (GRCm39) T40S probably benign Het
Zfp747 C T 7: 126,973,306 (GRCm39) G288D probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Zfp953 G A 13: 67,491,161 (GRCm39) L264F possibly damaging Het
Other mutations in Robo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Robo3 APN 9 37,339,050 (GRCm39) critical splice donor site probably null
IGL01023:Robo3 APN 9 37,340,847 (GRCm39) missense probably damaging 1.00
IGL01431:Robo3 APN 9 37,330,407 (GRCm39) unclassified probably benign
IGL01993:Robo3 APN 9 37,335,949 (GRCm39) missense probably damaging 1.00
IGL02256:Robo3 APN 9 37,336,649 (GRCm39) missense probably damaging 1.00
IGL02323:Robo3 APN 9 37,333,497 (GRCm39) missense probably benign 0.05
IGL02561:Robo3 APN 9 37,338,387 (GRCm39) missense possibly damaging 0.84
IGL02866:Robo3 APN 9 37,333,602 (GRCm39) missense possibly damaging 0.89
IGL02897:Robo3 APN 9 37,338,798 (GRCm39) nonsense probably null
IGL03003:Robo3 APN 9 37,330,587 (GRCm39) missense probably damaging 1.00
IGL03307:Robo3 APN 9 37,333,860 (GRCm39) missense probably damaging 0.96
IGL03097:Robo3 UTSW 9 37,333,824 (GRCm39) critical splice donor site probably null
R0137:Robo3 UTSW 9 37,336,640 (GRCm39) missense probably benign 0.00
R0266:Robo3 UTSW 9 37,333,936 (GRCm39) missense probably damaging 0.96
R0390:Robo3 UTSW 9 37,333,473 (GRCm39) missense probably benign 0.00
R0505:Robo3 UTSW 9 37,328,055 (GRCm39) unclassified probably benign
R0815:Robo3 UTSW 9 37,333,479 (GRCm39) missense probably damaging 1.00
R0924:Robo3 UTSW 9 37,340,778 (GRCm39) splice site probably benign
R1167:Robo3 UTSW 9 37,335,203 (GRCm39) nonsense probably null
R1203:Robo3 UTSW 9 37,329,978 (GRCm39) missense probably damaging 1.00
R1451:Robo3 UTSW 9 37,329,007 (GRCm39) missense probably benign 0.01
R1575:Robo3 UTSW 9 37,340,957 (GRCm39) missense probably damaging 1.00
R1596:Robo3 UTSW 9 37,335,928 (GRCm39) critical splice donor site probably null
R1660:Robo3 UTSW 9 37,340,440 (GRCm39) missense probably damaging 1.00
R1677:Robo3 UTSW 9 37,329,005 (GRCm39) missense possibly damaging 0.75
R1839:Robo3 UTSW 9 37,333,623 (GRCm39) missense probably benign 0.00
R1878:Robo3 UTSW 9 37,333,461 (GRCm39) missense probably damaging 1.00
R1891:Robo3 UTSW 9 37,339,351 (GRCm39) missense probably damaging 1.00
R2040:Robo3 UTSW 9 37,338,760 (GRCm39) missense probably damaging 1.00
R2859:Robo3 UTSW 9 37,339,400 (GRCm39) nonsense probably null
R3786:Robo3 UTSW 9 37,333,521 (GRCm39) missense probably damaging 1.00
R3886:Robo3 UTSW 9 37,333,477 (GRCm39) nonsense probably null
R3888:Robo3 UTSW 9 37,333,477 (GRCm39) nonsense probably null
R3910:Robo3 UTSW 9 37,330,591 (GRCm39) missense probably damaging 1.00
R4212:Robo3 UTSW 9 37,333,194 (GRCm39) missense probably damaging 1.00
R4213:Robo3 UTSW 9 37,333,194 (GRCm39) missense probably damaging 1.00
R4691:Robo3 UTSW 9 37,336,514 (GRCm39) missense probably damaging 0.99
R4979:Robo3 UTSW 9 37,334,640 (GRCm39) missense probably damaging 1.00
R5238:Robo3 UTSW 9 37,328,175 (GRCm39) missense probably damaging 0.99
R5570:Robo3 UTSW 9 37,336,571 (GRCm39) missense possibly damaging 0.81
R5629:Robo3 UTSW 9 37,330,507 (GRCm39) nonsense probably null
R5770:Robo3 UTSW 9 37,330,497 (GRCm39) missense possibly damaging 0.87
R5837:Robo3 UTSW 9 37,341,112 (GRCm39) critical splice acceptor site probably null
R6021:Robo3 UTSW 9 37,333,829 (GRCm39) nonsense probably null
R6129:Robo3 UTSW 9 37,334,589 (GRCm39) missense probably benign
R6233:Robo3 UTSW 9 37,332,225 (GRCm39) missense probably damaging 1.00
R6235:Robo3 UTSW 9 37,332,225 (GRCm39) missense probably damaging 1.00
R6326:Robo3 UTSW 9 37,338,323 (GRCm39) missense probably damaging 1.00
R6354:Robo3 UTSW 9 37,328,513 (GRCm39) unclassified probably benign
R6355:Robo3 UTSW 9 37,330,235 (GRCm39) missense possibly damaging 0.71
R6475:Robo3 UTSW 9 37,334,586 (GRCm39) missense probably damaging 0.99
R6937:Robo3 UTSW 9 37,341,176 (GRCm39) missense probably benign 0.16
R7201:Robo3 UTSW 9 37,335,626 (GRCm39) nonsense probably null
R7208:Robo3 UTSW 9 37,336,020 (GRCm39) missense probably damaging 0.99
R7249:Robo3 UTSW 9 37,336,129 (GRCm39) missense probably benign
R7376:Robo3 UTSW 9 37,344,212 (GRCm39) missense probably damaging 1.00
R7380:Robo3 UTSW 9 37,329,852 (GRCm39) missense probably damaging 1.00
R7448:Robo3 UTSW 9 37,336,111 (GRCm39) missense possibly damaging 0.89
R7475:Robo3 UTSW 9 37,336,674 (GRCm39) missense probably benign 0.01
R7496:Robo3 UTSW 9 37,339,121 (GRCm39) missense probably damaging 1.00
R7587:Robo3 UTSW 9 37,340,942 (GRCm39) missense probably damaging 1.00
R7694:Robo3 UTSW 9 37,329,816 (GRCm39) missense probably benign 0.14
R8381:Robo3 UTSW 9 37,341,056 (GRCm39) missense probably damaging 1.00
R8464:Robo3 UTSW 9 37,332,726 (GRCm39) missense probably damaging 1.00
R8495:Robo3 UTSW 9 37,336,664 (GRCm39) missense probably damaging 1.00
R8886:Robo3 UTSW 9 37,328,768 (GRCm39) missense probably damaging 0.99
R9422:Robo3 UTSW 9 37,329,789 (GRCm39) missense probably benign 0.03
R9563:Robo3 UTSW 9 37,340,900 (GRCm39) missense probably damaging 1.00
R9564:Robo3 UTSW 9 37,340,900 (GRCm39) missense probably damaging 1.00
R9681:Robo3 UTSW 9 37,339,087 (GRCm39) missense probably benign 0.45
R9681:Robo3 UTSW 9 37,334,558 (GRCm39) missense possibly damaging 0.75
X0024:Robo3 UTSW 9 37,339,151 (GRCm39) missense probably damaging 1.00
X0027:Robo3 UTSW 9 37,339,121 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTACTTCCCCTCTAGAACTGC -3'
(R):5'- ATCTGGAATGACGCTGTCCG -3'

Sequencing Primer
(F):5'- TAGAACTGCCCTCTCACTTCCAAG -3'
(R):5'- GTCCGAGCCCCTGGATTTC -3'
Posted On 2018-02-28