Incidental Mutation 'R7605:Robo1'
ID 588272
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 045675-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7605 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 72821189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1310 (R1310S)
Ref Sequence ENSEMBL: ENSMUSP00000023600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023600]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023600
AA Change: R1310S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: R1310S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,881,899 (GRCm39) L610P probably damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Asphd2 A G 5: 112,539,807 (GRCm39) W9R probably damaging Het
Blvrb T A 7: 27,165,218 (GRCm39) H179Q probably damaging Het
Capn13 A T 17: 73,652,132 (GRCm39) probably null Het
Casp6 A T 3: 129,705,812 (GRCm39) M160L probably benign Het
Chordc1 A G 9: 18,215,668 (GRCm39) E140G probably benign Het
Col24a1 A T 3: 145,244,442 (GRCm39) Y1572F possibly damaging Het
Cul9 A G 17: 46,852,658 (GRCm39) S235P probably damaging Het
Cyp2u1 A T 3: 131,091,602 (GRCm39) M306K probably damaging Het
Dhx33 A G 11: 70,890,299 (GRCm39) L240P probably damaging Het
Dna2 T A 10: 62,796,054 (GRCm39) D494E probably benign Het
Dnah7c C T 1: 46,671,470 (GRCm39) R1620C probably damaging Het
Dpp8 G A 9: 64,962,240 (GRCm39) V427M probably benign Het
Dpt G A 1: 164,624,400 (GRCm39) G34S unknown Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Entpd5 T G 12: 84,443,482 (GRCm39) H62P probably damaging Het
Ep300 A C 15: 81,505,353 (GRCm39) M658L unknown Het
Epb41l4a T A 18: 33,930,504 (GRCm39) D651V probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ephb2 A T 4: 136,498,419 (GRCm39) V220E probably damaging Het
Fam187a T A 11: 102,776,874 (GRCm39) L226H possibly damaging Het
Fbxo42 G A 4: 140,927,129 (GRCm39) A470T probably benign Het
Fcgrt C T 7: 44,744,675 (GRCm39) W264* probably null Het
Flt3 A C 5: 147,286,386 (GRCm39) H733Q probably benign Het
Gabrr2 A G 4: 33,082,560 (GRCm39) D228G probably damaging Het
Gars1 T C 6: 55,054,735 (GRCm39) S681P probably damaging Het
Gata2 T C 6: 88,177,390 (GRCm39) V140A possibly damaging Het
Gm8232 A T 14: 44,672,384 (GRCm39) N100I Het
Grik4 A G 9: 42,599,367 (GRCm39) C37R probably damaging Het
Grm8 T C 6: 27,618,678 (GRCm39) E388G probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igsf9b C T 9: 27,234,608 (GRCm39) T491I probably damaging Het
Impa1 C T 3: 10,389,147 (GRCm39) V105I probably damaging Het
Inf2 A G 12: 112,567,771 (GRCm39) T134A probably damaging Het
Itgb4 T A 11: 115,897,302 (GRCm39) V1521E probably benign Het
Iws1 T A 18: 32,222,540 (GRCm39) D623E probably benign Het
Lhfpl5 T C 17: 28,795,305 (GRCm39) S111P possibly damaging Het
Lyzl1 T C 18: 4,169,244 (GRCm39) C83R probably damaging Het
Madd G A 2: 91,000,055 (GRCm39) T617M possibly damaging Het
Magi2 A G 5: 20,433,383 (GRCm39) T163A probably damaging Het
Mdn1 C A 4: 32,694,599 (GRCm39) H1107Q probably damaging Het
Mfsd14b A T 13: 65,214,591 (GRCm39) Y454N probably benign Het
Mrgprb3 T A 7: 48,292,862 (GRCm39) I230F probably benign Het
Mroh2b C T 15: 4,974,505 (GRCm39) L1162F probably damaging Het
Or11i1 G T 3: 106,729,337 (GRCm39) H179Q probably damaging Het
Or2aj5 T C 16: 19,425,022 (GRCm39) Y131C probably damaging Het
Or51f23b C T 7: 102,402,952 (GRCm39) M61I probably benign Het
Or51m1 T C 7: 103,578,075 (GRCm39) L15P probably damaging Het
Or5ar1 A G 2: 85,671,383 (GRCm39) F251L probably benign Het
Or9e1 A G 11: 58,732,326 (GRCm39) I129V probably benign Het
Pclo T C 5: 14,729,050 (GRCm39) L2636P unknown Het
Pfkm G A 15: 98,019,191 (GRCm39) A181T probably damaging Het
Pik3r1 C T 13: 101,839,346 (GRCm39) A169T probably benign Het
R3hdml T A 2: 163,337,688 (GRCm39) M114K probably damaging Het
Scnm1 A T 3: 95,040,186 (GRCm39) N115K probably benign Het
Sfn A G 4: 133,328,548 (GRCm39) V178A probably damaging Het
Shank2 C T 7: 143,645,516 (GRCm39) T366I possibly damaging Het
Siah1a T C 8: 87,451,953 (GRCm39) D177G probably damaging Het
Slc37a2 A C 9: 37,148,624 (GRCm39) I286S possibly damaging Het
Smarce1 T C 11: 99,119,118 (GRCm39) T12A probably benign Het
Spata31d1c T A 13: 65,183,654 (GRCm39) S399T probably benign Het
Specc1 A G 11: 62,102,506 (GRCm39) S942G possibly damaging Het
Syt13 T C 2: 92,773,478 (GRCm39) F164S probably benign Het
Topbp1 A T 9: 103,209,905 (GRCm39) T851S probably benign Het
Ttn A T 2: 76,800,015 (GRCm39) S398T unknown Het
Vmn1r12 T C 6: 57,136,521 (GRCm39) V206A probably damaging Het
Vmn1r224 G A 17: 20,640,221 (GRCm39) W266* probably null Het
Vmn2r68 T C 7: 84,883,116 (GRCm39) D212G probably benign Het
Vps13b G T 15: 35,770,792 (GRCm39) K2078N probably damaging Het
Zfp251 A C 15: 76,738,557 (GRCm39) F179V possibly damaging Het
Other mutations in Robo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Robo1 APN 16 72,801,553 (GRCm39) missense probably benign 0.00
IGL01937:Robo1 APN 16 72,759,114 (GRCm39) missense probably damaging 1.00
IGL01945:Robo1 APN 16 72,759,114 (GRCm39) missense probably damaging 1.00
IGL02151:Robo1 APN 16 72,786,504 (GRCm39) missense probably benign 0.00
IGL02232:Robo1 APN 16 72,768,872 (GRCm39) missense possibly damaging 0.59
IGL02282:Robo1 APN 16 72,539,026 (GRCm39) missense probably damaging 1.00
IGL02590:Robo1 APN 16 72,840,020 (GRCm39) missense probably benign 0.06
IGL02874:Robo1 APN 16 72,809,806 (GRCm39) missense probably damaging 0.96
IGL02974:Robo1 APN 16 72,803,750 (GRCm39) missense probably benign 0.09
IGL03233:Robo1 APN 16 72,767,081 (GRCm39) missense probably damaging 0.99
PIT4378001:Robo1 UTSW 16 72,801,423 (GRCm39) missense probably damaging 1.00
R0079:Robo1 UTSW 16 72,730,230 (GRCm39) splice site probably benign
R0254:Robo1 UTSW 16 72,461,058 (GRCm39) missense probably benign 0.00
R0366:Robo1 UTSW 16 72,539,133 (GRCm39) missense possibly damaging 0.52
R0410:Robo1 UTSW 16 72,768,872 (GRCm39) missense possibly damaging 0.59
R0511:Robo1 UTSW 16 72,810,013 (GRCm39) critical splice donor site probably null
R0563:Robo1 UTSW 16 72,769,174 (GRCm39) missense probably benign 0.01
R0637:Robo1 UTSW 16 72,798,839 (GRCm39) missense probably benign 0.29
R1239:Robo1 UTSW 16 72,821,430 (GRCm39) splice site probably null
R1773:Robo1 UTSW 16 72,801,399 (GRCm39) missense probably benign 0.00
R1777:Robo1 UTSW 16 72,801,555 (GRCm39) missense probably benign
R1901:Robo1 UTSW 16 72,757,092 (GRCm39) missense probably null 1.00
R1902:Robo1 UTSW 16 72,757,092 (GRCm39) missense probably null 1.00
R1903:Robo1 UTSW 16 72,757,092 (GRCm39) missense probably null 1.00
R1996:Robo1 UTSW 16 72,767,067 (GRCm39) missense probably benign 0.40
R2040:Robo1 UTSW 16 72,730,630 (GRCm39) missense probably damaging 1.00
R2266:Robo1 UTSW 16 72,775,660 (GRCm39) missense probably benign
R2269:Robo1 UTSW 16 72,775,660 (GRCm39) missense probably benign
R2433:Robo1 UTSW 16 72,767,127 (GRCm39) missense probably benign 0.01
R3084:Robo1 UTSW 16 72,801,625 (GRCm39) missense probably benign 0.02
R3085:Robo1 UTSW 16 72,798,898 (GRCm39) missense possibly damaging 0.81
R3150:Robo1 UTSW 16 72,767,157 (GRCm39) missense possibly damaging 0.57
R3418:Robo1 UTSW 16 72,832,805 (GRCm39) missense probably benign 0.00
R3610:Robo1 UTSW 16 72,780,658 (GRCm39) missense probably benign 0.00
R3940:Robo1 UTSW 16 72,806,631 (GRCm39) missense probably benign
R3953:Robo1 UTSW 16 72,821,226 (GRCm39) missense probably damaging 1.00
R4692:Robo1 UTSW 16 72,757,090 (GRCm39) missense probably damaging 1.00
R4726:Robo1 UTSW 16 72,768,931 (GRCm39) missense probably damaging 1.00
R4814:Robo1 UTSW 16 72,768,923 (GRCm39) missense probably benign 0.11
R4884:Robo1 UTSW 16 72,701,639 (GRCm39) missense probably damaging 1.00
R4992:Robo1 UTSW 16 72,776,756 (GRCm39) missense probably damaging 0.98
R5150:Robo1 UTSW 16 72,769,192 (GRCm39) missense possibly damaging 0.79
R5183:Robo1 UTSW 16 72,539,038 (GRCm39) missense probably benign 0.03
R5360:Robo1 UTSW 16 72,732,665 (GRCm39) missense probably damaging 0.96
R5629:Robo1 UTSW 16 72,780,598 (GRCm39) missense probably benign 0.33
R5804:Robo1 UTSW 16 72,840,077 (GRCm39) critical splice donor site probably null
R6107:Robo1 UTSW 16 72,780,717 (GRCm39) missense probably benign 0.00
R6127:Robo1 UTSW 16 72,809,956 (GRCm39) missense probably benign
R6128:Robo1 UTSW 16 72,809,956 (GRCm39) missense probably benign
R6129:Robo1 UTSW 16 72,809,956 (GRCm39) missense probably benign
R6191:Robo1 UTSW 16 72,730,696 (GRCm39) missense probably benign 0.00
R6357:Robo1 UTSW 16 72,767,190 (GRCm39) missense probably benign 0.00
R6408:Robo1 UTSW 16 72,768,934 (GRCm39) missense probably benign 0.00
R6516:Robo1 UTSW 16 72,821,241 (GRCm39) missense probably benign 0.14
R6600:Robo1 UTSW 16 72,786,543 (GRCm39) missense probably damaging 1.00
R6802:Robo1 UTSW 16 72,730,201 (GRCm39) missense probably benign 0.17
R7105:Robo1 UTSW 16 72,539,049 (GRCm39) missense probably damaging 1.00
R7189:Robo1 UTSW 16 72,757,039 (GRCm39) nonsense probably null
R7290:Robo1 UTSW 16 72,801,408 (GRCm39) missense probably benign 0.03
R7296:Robo1 UTSW 16 72,786,519 (GRCm39) nonsense probably null
R7576:Robo1 UTSW 16 72,767,069 (GRCm39) missense probably damaging 0.99
R7607:Robo1 UTSW 16 72,360,626 (GRCm39) missense
R7634:Robo1 UTSW 16 72,839,866 (GRCm39) splice site probably null
R7636:Robo1 UTSW 16 72,360,615 (GRCm39) missense
R7857:Robo1 UTSW 16 72,767,099 (GRCm39) missense probably damaging 1.00
R7966:Robo1 UTSW 16 72,780,760 (GRCm39) missense possibly damaging 0.62
R7997:Robo1 UTSW 16 72,701,581 (GRCm39) missense probably damaging 1.00
R8101:Robo1 UTSW 16 72,775,469 (GRCm39) missense probably benign 0.03
R8191:Robo1 UTSW 16 72,730,142 (GRCm39) missense probably damaging 1.00
R8218:Robo1 UTSW 16 72,786,678 (GRCm39) missense possibly damaging 0.91
R8228:Robo1 UTSW 16 72,809,768 (GRCm39) missense probably benign 0.30
R8292:Robo1 UTSW 16 72,769,420 (GRCm39) missense possibly damaging 0.61
R8298:Robo1 UTSW 16 72,769,020 (GRCm39) intron probably benign
R8332:Robo1 UTSW 16 72,775,466 (GRCm39) missense probably damaging 1.00
R8402:Robo1 UTSW 16 72,821,385 (GRCm39) missense probably benign 0.16
R8492:Robo1 UTSW 16 72,809,911 (GRCm39) missense probably benign 0.06
R8730:Robo1 UTSW 16 72,786,495 (GRCm39) missense probably benign 0.08
R8774:Robo1 UTSW 16 72,832,719 (GRCm39) missense probably benign 0.00
R8774-TAIL:Robo1 UTSW 16 72,832,719 (GRCm39) missense probably benign 0.00
R8776:Robo1 UTSW 16 72,821,141 (GRCm39) nonsense probably null
R8776-TAIL:Robo1 UTSW 16 72,821,141 (GRCm39) nonsense probably null
R8905:Robo1 UTSW 16 72,539,173 (GRCm39) missense probably damaging 1.00
R8913:Robo1 UTSW 16 72,701,622 (GRCm39) missense probably damaging 1.00
R9003:Robo1 UTSW 16 72,539,002 (GRCm39) splice site probably benign
R9246:Robo1 UTSW 16 72,769,178 (GRCm39) missense probably benign
R9451:Robo1 UTSW 16 72,803,718 (GRCm39) missense probably benign 0.10
R9509:Robo1 UTSW 16 72,759,167 (GRCm39) missense probably damaging 0.96
R9652:Robo1 UTSW 16 72,821,330 (GRCm39) missense possibly damaging 0.95
R9653:Robo1 UTSW 16 72,821,330 (GRCm39) missense possibly damaging 0.95
R9749:Robo1 UTSW 16 72,105,257 (GRCm39) start gained probably benign
Z1176:Robo1 UTSW 16 72,774,688 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- CTTCAACTTGCCGGTTAGTTATTG -3'
(R):5'- GGGCAAAATCAGCGTCAGTG -3'

Sequencing Primer
(F):5'- TTGTCTTCCTACAGGCGGCAG -3'
(R):5'- CGTCAGTGAAAAAGGAGCCATC -3'
Posted On 2019-10-24