Incidental Mutation 'R1891:Robo3'
ID 211502
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 039911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1891 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 37327341-37344730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37339351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 212 (Y212F)
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: Y212F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034643
Gene: ENSMUSG00000032128
AA Change: Y212F

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: Y234F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110690
Gene: ENSMUSG00000032128
AA Change: Y234F

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: Y212F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,840,874 (GRCm39) I921T possibly damaging Het
Abca8a T C 11: 109,982,433 (GRCm39) K3R probably benign Het
Adgrl3 A T 5: 81,659,891 (GRCm39) D152V probably damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Akt1 A G 12: 112,626,009 (GRCm39) F88L probably damaging Het
Ankrd24 T C 10: 81,479,342 (GRCm39) probably benign Het
Arid4b T A 13: 14,310,821 (GRCm39) N141K possibly damaging Het
Cacna1c C A 6: 118,753,480 (GRCm39) D219Y probably damaging Het
Ccdc113 A G 8: 96,267,544 (GRCm39) K170E probably damaging Het
Ceacam9 A G 7: 16,457,880 (GRCm39) E136G probably damaging Het
Cfap43 A G 19: 47,802,380 (GRCm39) L333P probably damaging Het
Chl1 A G 6: 103,691,544 (GRCm39) D1062G possibly damaging Het
Cimip4 T A 15: 78,262,952 (GRCm39) D234V probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clpp T A 17: 57,298,307 (GRCm39) V91E probably damaging Het
Cndp1 A T 18: 84,637,758 (GRCm39) H325Q probably null Het
Cngb3 A G 4: 19,366,446 (GRCm39) N169S probably benign Het
Cog6 A C 3: 52,890,601 (GRCm39) I613R probably benign Het
Creb3l1 A G 2: 91,817,385 (GRCm39) L376P probably damaging Het
Cry2 A T 2: 92,243,985 (GRCm39) V396D possibly damaging Het
Cxxc5 A G 18: 35,992,318 (GRCm39) M240V possibly damaging Het
Defa28 G A 8: 22,073,801 (GRCm39) C68Y probably damaging Het
Ecd A G 14: 20,388,227 (GRCm39) I187T probably damaging Het
Erg28 A G 12: 85,862,962 (GRCm39) S117P probably benign Het
Ergic2 A T 6: 148,084,577 (GRCm39) C319S probably damaging Het
Ess2 C T 16: 17,725,644 (GRCm39) W183* probably null Het
Evc2 A C 5: 37,549,423 (GRCm39) D773A probably damaging Het
Fam151b T A 13: 92,586,678 (GRCm39) T252S probably benign Het
Fbxo28 A T 1: 182,145,389 (GRCm39) M233K probably benign Het
Fbxw26 T G 9: 109,551,232 (GRCm39) D355A probably benign Het
Gm4884 G C 7: 40,692,539 (GRCm39) E169D possibly damaging Het
Hk2 C T 6: 82,726,264 (GRCm39) R94Q probably benign Het
Hps4 G A 5: 112,517,422 (GRCm39) probably null Het
Hspg2 T A 4: 137,292,801 (GRCm39) D4126E probably damaging Het
Kif13a T C 13: 47,082,695 (GRCm39) E48G possibly damaging Het
Krt31 T A 11: 99,938,634 (GRCm39) N320Y probably damaging Het
Lca5 T C 9: 83,277,661 (GRCm39) Y561C probably damaging Het
Lrrk1 G A 7: 65,929,048 (GRCm39) L1195F probably damaging Het
Ly6g6d A C 17: 35,293,269 (GRCm39) Y25* probably null Het
Map3k13 T G 16: 21,729,836 (GRCm39) M489R probably damaging Het
Mcm6 C T 1: 128,263,547 (GRCm39) R658H probably damaging Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mitf A G 6: 97,918,237 (GRCm39) T94A probably benign Het
Mpo T A 11: 87,692,106 (GRCm39) L513* probably null Het
Mst1r T A 9: 107,790,661 (GRCm39) N722K probably damaging Het
Mthfd1l T A 10: 3,982,284 (GRCm39) L497* probably null Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Naip2 C T 13: 100,291,395 (GRCm39) R1181K probably benign Het
Nbas T C 12: 13,440,973 (GRCm39) M1101T possibly damaging Het
Odad3 G T 9: 21,906,677 (GRCm39) probably null Het
Or2y1b T C 11: 49,208,684 (GRCm39) F104L probably benign Het
Or4f60 A T 2: 111,902,739 (GRCm39) L63Q probably damaging Het
Or52l1 A T 7: 104,829,754 (GRCm39) Y270* probably null Het
Or5ae1 T A 7: 84,565,461 (GRCm39) V158D possibly damaging Het
Or6c33 T C 10: 129,853,439 (GRCm39) S70P probably damaging Het
Or7a40 T A 16: 16,491,441 (GRCm39) I135F probably damaging Het
Or7g20 T C 9: 18,947,274 (GRCm39) L285S probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Oxct2b A G 4: 123,010,938 (GRCm39) D286G probably benign Het
Pax5 A T 4: 44,691,859 (GRCm39) V129E probably damaging Het
Pax7 G A 4: 139,511,937 (GRCm39) R215C probably damaging Het
Pcdh7 A T 5: 57,878,217 (GRCm39) I591F probably damaging Het
Pcdhb22 T C 18: 37,652,357 (GRCm39) V275A probably damaging Het
Pkp3 C T 7: 140,663,969 (GRCm39) probably null Het
Plekhb1 A G 7: 100,304,599 (GRCm39) L35P probably damaging Het
Pole T A 5: 110,480,408 (GRCm39) F1993Y probably damaging Het
Pramel28 A T 4: 143,693,235 (GRCm39) V81E probably damaging Het
Prdx1 T C 4: 116,556,451 (GRCm39) *200R probably null Het
Prkdc C A 16: 15,543,300 (GRCm39) T1777N probably benign Het
Prss59 A T 6: 40,902,967 (GRCm39) M135K possibly damaging Het
Ptpn14 G A 1: 189,530,850 (GRCm39) V106M probably damaging Het
Ptpn23 T C 9: 110,222,868 (GRCm39) E63G possibly damaging Het
Qser1 A C 2: 104,620,444 (GRCm39) S123A probably benign Het
Rbm11 A G 16: 75,397,675 (GRCm39) N202D possibly damaging Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Serpinb1c T A 13: 33,068,235 (GRCm39) D179V probably benign Het
Skint6 T C 4: 112,703,893 (GRCm39) D994G possibly damaging Het
Sorbs1 A G 19: 40,381,904 (GRCm39) S46P probably damaging Het
St8sia4 T C 1: 95,519,433 (GRCm39) T352A possibly damaging Het
Stab1 C A 14: 30,863,287 (GRCm39) R2133L probably benign Het
Stk11ip T C 1: 75,509,060 (GRCm39) C730R probably benign Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tle4 A T 19: 14,522,150 (GRCm39) probably null Het
Tmem200a T A 10: 25,869,970 (GRCm39) N100Y probably damaging Het
Tnnt2 A T 1: 135,768,597 (GRCm39) probably null Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Urgcp T C 11: 5,666,910 (GRCm39) E476G probably benign Het
Vmn1r201 G A 13: 22,659,425 (GRCm39) R213H probably benign Het
Vmn2r84 C T 10: 130,221,938 (GRCm39) V761M possibly damaging Het
Vwde A T 6: 13,187,454 (GRCm39) Y678N probably damaging Het
Wnk2 C A 13: 49,206,200 (GRCm39) E1865* probably null Het
Zc3h3 A C 15: 75,628,780 (GRCm39) M838R possibly damaging Het
Zfp959 T A 17: 56,204,604 (GRCm39) C211S 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
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
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'- ACGCTCTACAGAGTAGGAGC -3'
(R):5'- GAGAGAACACCATGATGCCC -3'

Sequencing Primer
(F):5'- CCATTGAACTGTCAGGGGTAC -3'
(R):5'- GCCCCCATATCTGATACATGAATC -3'
Posted On 2014-06-30