Incidental Mutation 'R1777:Robo1'
ID 197170
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 039808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1777 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 72801555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 1060 (W1060G)
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: W1060G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: W1060G

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 unknown
Transcript: ENSMUST00000232205
AA Change: W1069G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232432
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T A 1: 16,148,813 (GRCm39) D111V possibly damaging Het
Ap2a1 G A 7: 44,553,576 (GRCm39) T597M probably damaging Het
Arhgap25 A G 6: 87,440,289 (GRCm39) S364P probably benign Het
Atp6v1a G T 16: 43,935,068 (GRCm39) Y40* probably null Het
Cdh1 T A 8: 107,383,467 (GRCm39) H235Q probably damaging Het
Cntln A G 4: 85,048,916 (GRCm39) E1376G probably benign Het
Cntnap5b T A 1: 100,297,803 (GRCm39) S781T probably benign Het
Cpne4 A G 9: 104,749,887 (GRCm39) T64A probably damaging Het
Ctsg T C 14: 56,338,058 (GRCm39) Y179C probably damaging Het
Cx3cr1 A G 9: 119,880,659 (GRCm39) Y248H probably damaging Het
Dhx37 T C 5: 125,506,995 (GRCm39) E167G probably benign Het
Dnajc21 C A 15: 10,449,693 (GRCm39) A443S probably benign Het
Drd5 T C 5: 38,477,504 (GRCm39) S166P probably damaging Het
Dscaml1 T C 9: 45,595,054 (GRCm39) L719P possibly damaging Het
Eif2ak4 T C 2: 118,261,320 (GRCm39) I542T probably damaging Het
Ephb3 G A 16: 21,035,985 (GRCm39) G291E probably damaging Het
Eva1a T A 6: 82,069,137 (GRCm39) Y155N probably damaging Het
Exog C T 9: 119,278,884 (GRCm39) P189L probably damaging Het
Fam13b A G 18: 34,590,813 (GRCm39) V455A possibly damaging Het
Fmn2 C A 1: 174,409,488 (GRCm39) Q574K unknown Het
Gm6871 A T 7: 41,195,143 (GRCm39) S531R probably benign Het
Golga2 T A 2: 32,195,482 (GRCm39) probably null Het
Hydin C T 8: 111,316,203 (GRCm39) P4365L probably benign Het
Ints8 A T 4: 11,225,600 (GRCm39) probably null Het
Kbtbd12 A C 6: 88,595,042 (GRCm39) S263A probably benign Het
Kcng4 T C 8: 120,360,226 (GRCm39) D50G probably benign Het
Klhl18 A T 9: 110,266,469 (GRCm39) C217S probably benign Het
Klk1b4 A G 7: 43,856,875 (GRCm39) probably benign Het
Klk7 G A 7: 43,462,753 (GRCm39) C186Y probably damaging Het
Krbox5 A T 13: 67,981,984 (GRCm39) R65S probably benign Het
Krit1 T C 5: 3,886,799 (GRCm39) Y635H probably damaging Het
Lipo4 A T 19: 33,476,721 (GRCm39) D342E probably damaging Het
Lsm14b T G 2: 179,673,588 (GRCm39) D199E probably benign Het
Map3k4 A T 17: 12,490,617 (GRCm39) N271K possibly damaging Het
Mast1 T A 8: 85,638,697 (GRCm39) N1544I probably benign Het
Megf6 T A 4: 154,355,147 (GRCm39) C1487* probably null Het
Mlh3 C A 12: 85,315,528 (GRCm39) K219N possibly damaging Het
Mtmr4 A G 11: 87,493,656 (GRCm39) K305E probably damaging Het
Myo15a A G 11: 60,405,762 (GRCm39) M3105V probably benign Het
Nbas A T 12: 13,563,563 (GRCm39) I1958F probably benign Het
Nepro A T 16: 44,556,216 (GRCm39) Q458L probably damaging Het
Opa3 T C 7: 18,978,837 (GRCm39) Y101H probably damaging Het
Or11g25 T A 14: 50,723,757 (GRCm39) F281I probably benign Het
Or14c41 T A 7: 86,235,272 (GRCm39) I263N probably benign Het
Or4f15 T A 2: 111,814,042 (GRCm39) I126L possibly damaging Het
Or51f1d T C 7: 102,700,583 (GRCm39) I26T probably benign Het
Or5ac16 A G 16: 59,022,379 (GRCm39) S137P probably benign Het
Or8b12 A G 9: 37,657,607 (GRCm39) Y59C possibly damaging Het
Pate3 T C 9: 35,559,412 (GRCm39) N2D probably benign Het
Pcdhb21 T A 18: 37,648,771 (GRCm39) D633E possibly damaging Het
Pgm2 C T 5: 64,285,125 (GRCm39) P589L probably benign Het
Pigg T A 5: 108,465,257 (GRCm39) D163E probably damaging Het
Polq A G 16: 36,880,586 (GRCm39) T638A possibly damaging Het
Prmt3 T A 7: 49,448,094 (GRCm39) M268K possibly damaging Het
Prmt9 T C 8: 78,291,737 (GRCm39) C370R probably benign Het
Prss57 A T 10: 79,623,219 (GRCm39) V76E possibly damaging Het
Psme3ip1 T C 8: 95,315,439 (GRCm39) E31G probably damaging Het
Pzp T C 6: 128,467,535 (GRCm39) E1089G possibly damaging Het
Qars1 T A 9: 108,385,400 (GRCm39) probably null Het
Ralgapb T C 2: 158,304,115 (GRCm39) Y625H probably damaging Het
Rgl2 G A 17: 34,150,718 (GRCm39) D59N probably benign Het
Scaper A T 9: 55,771,830 (GRCm39) V362E probably benign Het
Schip1 T C 3: 68,525,017 (GRCm39) F131S probably damaging Het
Sh2b2 A T 5: 136,256,276 (GRCm39) V252D probably damaging Het
Shld2 C A 14: 33,990,130 (GRCm39) V259L probably benign Het
Slc17a6 A T 7: 51,295,957 (GRCm39) H199L possibly damaging Het
Slc29a1 A G 17: 45,898,234 (GRCm39) Y325H probably damaging Het
Slc29a4 G T 5: 142,699,817 (GRCm39) W156L probably damaging Het
Slc5a3 T A 16: 91,874,644 (GRCm39) S234T probably benign Het
Srd5a3 T G 5: 76,297,630 (GRCm39) V20G probably damaging Het
Stac A T 9: 111,433,150 (GRCm39) S223T possibly damaging Het
Sytl2 A T 7: 90,052,260 (GRCm39) T766S probably benign Het
Tas2r102 A G 6: 132,739,254 (GRCm39) D54G probably benign Het
Tbpl1 A G 10: 22,583,742 (GRCm39) V105A probably damaging Het
Tenm3 G T 8: 48,870,214 (GRCm39) P193Q probably benign Het
Tes G A 6: 17,104,754 (GRCm39) V403M probably benign Het
Tgfbr2 A C 9: 115,938,948 (GRCm39) I318S probably damaging Het
Tgfbr3 C A 5: 107,284,796 (GRCm39) V618L probably benign Het
Tmc1 C T 19: 20,793,473 (GRCm39) probably null Het
Tmem132a G A 19: 10,835,870 (GRCm39) H887Y probably damaging Het
Tmem43 C A 6: 91,454,312 (GRCm39) S33* probably null Het
Tob1 A G 11: 94,104,580 (GRCm39) K39E probably damaging Het
Tut7 A T 13: 59,939,635 (GRCm39) H705Q probably damaging Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Usp25 T C 16: 76,878,442 (GRCm39) M622T probably damaging Het
Vmn1r158 A T 7: 22,489,855 (GRCm39) L118Q probably damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r15 A T 5: 109,442,136 (GRCm39) I99K possibly damaging Het
Vwa7 T A 17: 35,243,924 (GRCm39) V786E probably damaging Het
Xkr5 A G 8: 18,989,148 (GRCm39) F248S probably benign Het
Zzef1 A T 11: 72,801,098 (GRCm39) K2444M probably 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
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
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'- CGGGATCGTAAATAACGCCGACAG -3'
(R):5'- TGCAGAACACTCAGGGAGATCAGAC -3'

Sequencing Primer
(F):5'- AGCCTGTGTGAATAGTTAACCCC -3'
(R):5'- CTCAGGGAGATCAGACAGGAAG -3'
Posted On 2014-05-23