Incidental Mutation 'R2266:Robo1'
ID 242069
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 040266-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2266 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72775660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 728 (F728L)
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: F728L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: F728L

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: ENSMUST00000231566
Predicted Effect unknown
Transcript: ENSMUST00000232205
AA Change: F737L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232545
Meta Mutation Damage Score 0.0584 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bsn T A 9: 107,992,323 (GRCm39) D1143V probably damaging Het
Cacna2d2 T C 9: 107,390,479 (GRCm39) V317A probably damaging Het
Cdh1 G A 8: 107,388,635 (GRCm39) V564I probably benign Het
Cep250 T C 2: 155,818,090 (GRCm39) V814A probably benign Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyb561d1 A T 3: 108,106,720 (GRCm39) H166Q probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dgkd A G 1: 87,855,540 (GRCm39) probably benign Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Ecpas A T 4: 58,830,332 (GRCm39) probably null Het
Eid1 A G 2: 125,515,344 (GRCm39) D78G possibly damaging Het
Emid1 T A 11: 5,094,331 (GRCm39) Q60L probably damaging Het
Fam135a A T 1: 24,067,878 (GRCm39) V801E probably benign Het
Foxh1 A G 15: 76,552,820 (GRCm39) V298A probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Grid2ip C T 5: 143,371,847 (GRCm39) P690L probably benign Het
H2bc9 T C 13: 23,727,162 (GRCm39) K121E possibly damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klra10 A G 6: 130,246,264 (GRCm39) V237A probably benign Het
Klre1 A G 6: 129,562,593 (GRCm39) K206R probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Med23 T G 10: 24,750,499 (GRCm39) S109A probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Naip6 A G 13: 100,420,067 (GRCm39) V1401A possibly damaging Het
Ncapg2 A G 12: 116,393,296 (GRCm39) E500G probably damaging Het
Nlrp12 T C 7: 3,282,575 (GRCm39) I775V probably benign Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Polq C A 16: 36,882,515 (GRCm39) Q1560K possibly damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Ptprm A T 17: 67,032,846 (GRCm39) probably null Het
Ripk2 A T 4: 16,152,011 (GRCm39) S183T possibly damaging Het
Rttn A G 18: 89,082,295 (GRCm39) N1407S probably benign Het
Sec14l1 A T 11: 117,047,314 (GRCm39) H664L probably damaging Het
Slc10a7 G A 8: 79,236,264 (GRCm39) G21S probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spesp1 A T 9: 62,180,834 (GRCm39) L25M probably damaging Het
St6galnac1 G A 11: 116,658,673 (GRCm39) Q264* probably null Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tnfsf13b A T 8: 10,057,306 (GRCm39) R125S probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vmn1r38 G T 6: 66,753,433 (GRCm39) Q228K probably benign Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Xrn1 A G 9: 95,888,765 (GRCm39) D948G possibly damaging Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Zfp418 G A 7: 7,185,807 (GRCm39) R590K probably benign 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
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
R7605:Robo1 UTSW 16 72,821,189 (GRCm39) missense probably benign 0.14
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'- AAAATTCTCTACCGCCCATCTG -3'
(R):5'- AGGCACGACTAAAGCAAGTC -3'

Sequencing Primer
(F):5'- CATCTGGAGCCAGCCATG -3'
(R):5'- GCAAGTCACTTACGTTTACCAGAG -3'
Posted On 2014-10-16