Incidental Mutation 'R9563:Robo3'
ID 721232
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9563 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 37327341-37344730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37340900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 124 (F124S)
Ref Sequence ENSEMBL: ENSMUSP00000110690 (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: F102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034643
Gene: ENSMUSG00000032128
AA Change: F102S

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: F124S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110690
Gene: ENSMUSG00000032128
AA Change: F124S

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 probably damaging
Transcript: ENSMUST00000170512
AA Change: F102S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 127 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,645,009 (GRCm39) D953E probably damaging Het
Acod1 A C 14: 103,287,109 (GRCm39) Y80S probably damaging Het
Actr5 A G 2: 158,470,135 (GRCm39) D255G probably damaging Het
Akna A G 4: 63,312,944 (GRCm39) V393A probably damaging Het
Amotl1 T C 9: 14,473,513 (GRCm39) K562R possibly damaging Het
Amz1 T A 5: 140,738,133 (GRCm39) D464E probably damaging Het
Anapc1 G A 2: 128,505,980 (GRCm39) Q619* probably null Het
Arfgef3 C T 10: 18,522,275 (GRCm39) G584R probably damaging Het
Armt1 AC A 10: 4,400,848 (GRCm39) probably null Het
Atr G C 9: 95,802,833 (GRCm39) V1832L probably damaging Het
Bsn T C 9: 107,984,616 (GRCm39) D374G Het
Cap1 A G 4: 122,758,505 (GRCm39) V225A probably benign Het
Cc2d1a A G 8: 84,863,758 (GRCm39) S562P probably benign Het
Ccdc30 T C 4: 119,250,821 (GRCm39) N141S possibly damaging Het
Cdc42bpb A G 12: 111,265,762 (GRCm39) V1390A possibly damaging Het
Cdc42ep1 A T 15: 78,733,782 (GRCm39) H294L probably benign Het
Col6a6 C A 9: 105,572,952 (GRCm39) G2185C probably benign Het
Col7a1 T C 9: 108,791,809 (GRCm39) V1232A unknown Het
Copb1 A G 7: 113,836,034 (GRCm39) I449T possibly damaging Het
Cplane1 T G 15: 8,216,563 (GRCm39) L594V probably benign Het
Ctdsp2 A G 10: 126,832,040 (GRCm39) D216G probably damaging Het
Cttnbp2 T A 6: 18,367,382 (GRCm39) K1645N probably benign Het
Cttnbp2 A T 6: 18,427,467 (GRCm39) L738* probably null Het
Cul9 T A 17: 46,820,897 (GRCm39) T1927S probably benign Het
Cyfip2 A G 11: 46,151,707 (GRCm39) C531R probably benign Het
Cyp2j6 A G 4: 96,414,245 (GRCm39) I340T probably damaging Het
Daam1 A G 12: 71,992,251 (GRCm39) E322G unknown Het
Dab2ip T A 2: 35,609,915 (GRCm39) L710* probably null Het
Degs1l G T 1: 180,882,810 (GRCm39) V191F possibly damaging Het
Dph1 T C 11: 75,076,825 (GRCm39) T60A possibly damaging Het
Eme1 T C 11: 94,541,339 (GRCm39) D161G probably benign Het
Epha3 C T 16: 63,366,510 (GRCm39) G980D possibly damaging Het
Eri3 T A 4: 117,422,013 (GRCm39) V136E probably benign Het
Espl1 T A 15: 102,228,233 (GRCm39) I1669N possibly damaging Het
Exoc6 T C 19: 37,588,071 (GRCm39) I568T probably damaging Het
F3 T A 3: 121,527,822 (GRCm39) L85H Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbxw14 T C 9: 109,106,335 (GRCm39) Y234C probably benign Het
Fbxw25 T A 9: 109,483,676 (GRCm39) N179Y Het
Foxr1 T A 9: 44,352,199 (GRCm39) probably benign Het
Gas8 T A 8: 124,263,179 (GRCm39) V452E possibly damaging Het
Gdpd4 T C 7: 97,649,369 (GRCm39) V450A probably damaging Het
Greb1 T C 12: 16,774,824 (GRCm39) Y191C probably benign Het
H3c11 T C 13: 21,967,221 (GRCm39) D107G probably damaging Het
Haus3 G A 5: 34,325,300 (GRCm39) R120W probably benign Het
Herc1 G T 9: 66,294,193 (GRCm39) probably null Het
Hyal2 T C 9: 107,447,844 (GRCm39) W166R probably damaging Het
Inka1 T A 9: 107,861,488 (GRCm39) Y276F probably benign Het
Itga7 C T 10: 128,789,669 (GRCm39) A1003V probably damaging Het
Itga8 T A 2: 12,165,219 (GRCm39) I797F possibly damaging Het
Kank2 T C 9: 21,705,852 (GRCm39) T389A possibly damaging Het
Kcnb2 T A 1: 15,779,737 (GRCm39) I203N probably damaging Het
Kif21b T A 1: 136,077,166 (GRCm39) L396Q probably damaging Het
Kng1 T G 16: 22,879,170 (GRCm39) I78S probably damaging Het
Ldlrad4 T C 18: 68,387,551 (GRCm39) S288P probably benign Het
Lmntd2 A G 7: 140,790,701 (GRCm39) S516P Het
Lrp1b T A 2: 41,185,711 (GRCm39) I1449F Het
Lrrk2 T A 15: 91,634,043 (GRCm39) I1380K possibly damaging Het
Lvrn T G 18: 47,017,506 (GRCm39) I612S probably damaging Het
Lyst T C 13: 13,812,408 (GRCm39) L940P probably benign Het
Man2a2 T A 7: 80,006,101 (GRCm39) M996L probably benign Het
Map3k3 T A 11: 106,041,860 (GRCm39) I413N probably damaging Het
Map4k5 A G 12: 69,863,167 (GRCm39) V629A probably benign Het
Mapre2 A G 18: 24,023,981 (GRCm39) E325G unknown Het
Mbnl1 A G 3: 60,520,715 (GRCm39) N101S probably benign Het
Meltf T A 16: 31,703,869 (GRCm39) C199S probably damaging Het
Mmab T C 5: 114,574,850 (GRCm39) E141G probably benign Het
Mtcl2 G A 2: 156,902,182 (GRCm39) R278C probably damaging Het
Mtus2 T C 5: 148,250,217 (GRCm39) L1317P Het
Muc6 T A 7: 141,217,783 (GRCm39) T2297S possibly damaging Het
Myom2 A T 8: 15,158,399 (GRCm39) K784* probably null Het
Nek1 A G 8: 61,577,157 (GRCm39) E1118G probably benign Het
Nrtn A G 17: 57,058,416 (GRCm39) V195A probably damaging Het
Nsd3 G A 8: 26,204,230 (GRCm39) V420I Het
Or52e4 T C 7: 104,706,281 (GRCm39) L276P possibly damaging Het
Or52z13 A T 7: 103,247,225 (GRCm39) Q234L probably benign Het
Or5ac23 T C 16: 59,149,765 (GRCm39) I36V probably benign Het
Or5b99 T A 19: 12,976,983 (GRCm39) I211N probably damaging Het
Or5t9 A G 2: 86,659,098 (GRCm39) M1V probably null Het
Or6ae1 G A 7: 139,742,233 (GRCm39) T210I probably damaging Het
Or6c33 T C 10: 129,853,287 (GRCm39) I19T probably benign Het
Or8b56 A T 9: 38,739,014 (GRCm39) H3L probably benign Het
Pde10a G T 17: 9,020,710 (GRCm39) A216S unknown Het
Phldb2 T C 16: 45,645,247 (GRCm39) T400A possibly damaging Het
Pkd1l1 T A 11: 8,815,502 (GRCm39) T1920S Het
Ptgs2 T A 1: 149,981,419 (GRCm39) N567K probably benign Het
Pwp1 T A 10: 85,712,370 (GRCm39) D141E probably damaging Het
Rab3ip T C 10: 116,754,668 (GRCm39) E296G probably null Het
Rb1cc1 A G 1: 6,314,339 (GRCm39) K337R probably benign Het
Rbp3 A G 14: 33,677,477 (GRCm39) D475G probably damaging Het
Ric3 T C 7: 108,637,997 (GRCm39) E253G possibly damaging Het
Rictor A T 15: 6,797,562 (GRCm39) N306I possibly damaging Het
Rnf214 A T 9: 45,811,141 (GRCm39) V174E possibly damaging Het
Rrad A G 8: 105,355,324 (GRCm39) F228S probably damaging Het
Scn3a A T 2: 65,291,595 (GRCm39) M1717K probably damaging Het
Scn3b A G 9: 40,193,729 (GRCm39) D152G probably benign Het
Scn5a C A 9: 119,315,803 (GRCm39) R1635L probably damaging Het
Sec61b A G 4: 47,483,049 (GRCm39) Y93C probably damaging Het
Shprh T A 10: 11,042,235 (GRCm39) Y739* probably null Het
Skor2 C T 18: 76,946,376 (GRCm39) H33Y unknown Het
Slc26a7 T C 4: 14,519,496 (GRCm39) N508S probably benign Het
Slc7a12 A G 3: 14,564,360 (GRCm39) I349V possibly damaging Het
Slit1 T C 19: 41,596,874 (GRCm39) Y1075C probably damaging Het
Sltm C T 9: 70,480,841 (GRCm39) A231V unknown Het
Smg1 A G 7: 117,812,208 (GRCm39) S52P unknown Het
Sorl1 A G 9: 41,957,893 (GRCm39) Y584H probably damaging Het
Spmip2 A T 3: 79,356,616 (GRCm39) M140L probably benign Het
Ssbp1 T A 6: 40,454,968 (GRCm39) S142R probably benign Het
Stard3 A G 11: 98,270,797 (GRCm39) probably null Het
Strn3 G T 12: 51,674,300 (GRCm39) H531N possibly damaging Het
Stx17 A G 4: 48,180,739 (GRCm39) T195A probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmed5 A C 5: 108,280,100 (GRCm39) probably null Het
Tmem132a C T 19: 10,838,960 (GRCm39) R494H probably benign Het
Tom1 A G 8: 75,787,177 (GRCm39) K406E probably benign Het
Trav5d-4 A T 14: 53,239,473 (GRCm39) N43Y probably damaging Het
Trbv19 G T 6: 41,155,945 (GRCm39) K105N possibly damaging Het
Trim34a C T 7: 103,910,328 (GRCm39) Q377* probably null Het
Trp53bp2 T A 1: 182,276,378 (GRCm39) N786K probably benign Het
Trpc3 A G 3: 36,705,683 (GRCm39) M504T probably benign Het
Ttc28 A T 5: 111,371,092 (GRCm39) M545L probably benign Het
Uggt1 A C 1: 36,204,627 (GRCm39) V996G possibly damaging Het
Vmn2r65 G A 7: 84,589,880 (GRCm39) Q679* probably null Het
Wdfy4 T C 14: 32,692,833 (GRCm39) I2958V Het
Zbtb37 C T 1: 160,847,840 (GRCm39) S389N possibly damaging Het
Zfp235 T C 7: 23,841,669 (GRCm39) V696A possibly damaging Het
Zzef1 T A 11: 72,765,732 (GRCm39) C1420S probably 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
R6232:Robo3 UTSW 9 37,332,225 (GRCm39) missense probably damaging 1.00
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
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'- AGACGTTCATTGGGCTGACC -3'
(R):5'- TCTCCAGGGTCAAGAGTTGG -3'

Sequencing Primer
(F):5'- CCCCAGGCCAACTTTCTG -3'
(R):5'- TTGGGCCAGAAGATGCCATG -3'
Posted On 2022-08-09