Incidental Mutation 'R1901:Robo1'
ID 212264
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 039921-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1901 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72757092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 351 (Q351R)
Ref Sequence ENSEMBL: ENSMUSP00000023600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023600]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000023600
AA Change: Q351R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: Q351R

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: ENSMUST00000231265
Predicted Effect probably null
Transcript: ENSMUST00000232205
AA Change: Q360R
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.5%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,945,322 (GRCm39) E466G probably damaging Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Acta1 A T 8: 124,619,900 (GRCm39) S147T probably benign Het
Adh1 G A 3: 137,994,558 (GRCm39) V293I probably benign Het
Aldh3b3 T C 19: 4,015,130 (GRCm39) Y170H probably damaging Het
Ank3 A T 10: 69,658,167 (GRCm39) T198S probably damaging Het
Ankrd12 A T 17: 66,293,698 (GRCm39) N578K possibly damaging Het
Ano2 A T 6: 125,849,647 (GRCm39) E126D probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Col19a1 A T 1: 24,576,078 (GRCm39) I88K unknown Het
Col1a1 G A 11: 94,837,458 (GRCm39) probably null Het
Col5a1 A G 2: 27,850,456 (GRCm39) T518A unknown Het
Cul7 T C 17: 46,966,666 (GRCm39) L365P probably damaging Het
Dlec1 T C 9: 118,931,712 (GRCm39) S44P probably damaging Het
Dock9 T C 14: 121,862,565 (GRCm39) probably null Het
Fbxl9 T C 8: 106,039,707 (GRCm39) N556S probably damaging Het
Flrt2 C A 12: 95,745,904 (GRCm39) P81T probably damaging Het
Flrt2 C T 12: 95,745,905 (GRCm39) P81L probably damaging Het
Ginm1 A G 10: 7,650,980 (GRCm39) probably null Het
Glis3 T C 19: 28,508,985 (GRCm39) N333S probably damaging Het
Glo1 T G 17: 30,815,382 (GRCm39) E144D probably benign Het
Golga1 A T 2: 38,937,792 (GRCm39) probably null Het
H2-Aa A G 17: 34,502,207 (GRCm39) I155T possibly damaging Het
Haus5 A G 7: 30,356,670 (GRCm39) S479P probably damaging Het
Il10ra A T 9: 45,167,654 (GRCm39) V299D probably benign Het
Il17re T C 6: 113,446,665 (GRCm39) V472A probably damaging Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Il23r A C 6: 67,400,718 (GRCm39) D537E probably benign Het
Inppl1 T C 7: 101,472,584 (GRCm39) E1237G possibly damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Klhl35 T C 7: 99,119,427 (GRCm39) L304P probably damaging Het
Krt78 A T 15: 101,855,398 (GRCm39) C804* probably null Het
Med15 G T 16: 17,491,018 (GRCm39) probably benign Het
Mettl25 A G 10: 105,661,948 (GRCm39) S341P probably damaging Het
Mroh1 A G 15: 76,320,249 (GRCm39) T1008A probably benign Het
Mug1 A G 6: 121,858,780 (GRCm39) D1166G probably benign Het
Mug2 C A 6: 122,048,801 (GRCm39) H856N probably benign Het
Naca T A 10: 127,879,590 (GRCm39) probably benign Het
Nagk G T 6: 83,776,336 (GRCm39) V184F probably damaging Het
Nav1 T G 1: 135,400,148 (GRCm39) N474T probably benign Het
Ncor2 T A 5: 125,102,489 (GRCm39) H2089L probably benign Het
Nek6 A G 2: 38,472,458 (GRCm39) I261V probably damaging Het
Neurod2 G A 11: 98,218,558 (GRCm39) T202M probably damaging Het
Nlgn2 A G 11: 69,716,726 (GRCm39) V605A probably damaging Het
Nlrp5 A C 7: 23,123,335 (GRCm39) E732A possibly damaging Het
Nt5dc1 A T 10: 34,189,667 (GRCm39) V340D probably damaging Het
Ntn4 A G 10: 93,543,234 (GRCm39) D320G possibly damaging Het
Or10al3 T A 17: 38,012,312 (GRCm39) H250Q probably damaging Het
Or10x1 A T 1: 174,196,734 (GRCm39) I84L probably benign Het
Or52l1 A G 7: 104,830,079 (GRCm39) I162T possibly damaging Het
Or52z15 T C 7: 103,332,750 (GRCm39) I265T probably damaging Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pcdhb12 T A 18: 37,570,683 (GRCm39) W610R possibly damaging Het
Pias2 T A 18: 77,185,139 (GRCm39) C66* probably null Het
Plec T A 15: 76,059,751 (GRCm39) E3417D probably damaging Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,976,940 (GRCm39) probably benign Het
Ppp1r12a T A 10: 108,034,752 (GRCm39) I99N probably damaging Het
Prpf8 T G 11: 75,395,570 (GRCm39) V1899G probably damaging Het
Prr13 C A 15: 102,369,133 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,814,507 (GRCm39) I803L probably benign Het
R3hdm2 T C 10: 127,334,337 (GRCm39) I947T possibly damaging Het
Raet1d A G 10: 22,247,350 (GRCm39) D142G probably damaging Het
Rbbp8nl C T 2: 179,925,106 (GRCm39) R33Q probably damaging Het
Rptn A T 3: 93,304,017 (GRCm39) H450L possibly damaging Het
Scn11a T A 9: 119,608,102 (GRCm39) K1010* probably null Het
Slc16a10 G A 10: 39,932,602 (GRCm39) Q33* probably null Het
Slc31a1 C T 4: 62,303,842 (GRCm39) probably benign Het
Slc34a1 A T 13: 55,548,963 (GRCm39) K138* probably null Het
Slc6a18 T A 13: 73,818,162 (GRCm39) E285V probably benign Het
Slco6c1 T A 1: 97,000,707 (GRCm39) T515S probably damaging Het
Snrnp40 T A 4: 130,279,768 (GRCm39) S295T probably damaging Het
Snx4 A T 16: 33,104,808 (GRCm39) Y252F possibly damaging Het
Spata18 T A 5: 73,828,482 (GRCm39) F348I probably damaging Het
Spef2 G T 15: 9,607,463 (GRCm39) R1319S probably damaging Het
Tas2r125 T C 6: 132,887,139 (GRCm39) F176L probably benign Het
Tcp10b A G 17: 13,300,513 (GRCm39) K399E possibly damaging Het
Tcstv3 A G 13: 120,779,260 (GRCm39) H53R probably damaging Het
Tnrc6c A G 11: 117,613,831 (GRCm39) K823R probably damaging Het
Trim31 A G 17: 37,212,692 (GRCm39) E221G probably benign Het
Trim47 T A 11: 115,998,605 (GRCm39) Q338L probably damaging Het
Tubgcp6 C A 15: 89,000,444 (GRCm39) R307L possibly damaging Het
Usp9y A G Y: 1,303,371 (GRCm39) probably null Het
Utp20 G T 10: 88,588,888 (GRCm39) T2427K probably benign Het
Vldlr T C 19: 27,218,709 (GRCm39) V147A probably damaging Het
Vmn1r115 C T 7: 20,578,198 (GRCm39) R238H probably benign Het
Vmn1r175 C A 7: 23,508,218 (GRCm39) R136S probably benign Het
Vmn1r53 A G 6: 90,201,268 (GRCm39) S19P possibly damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zfp362 G T 4: 128,684,069 (GRCm39) P13T probably damaging Het
Zfp825 A G 13: 74,629,064 (GRCm39) C151R 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
R1777:Robo1 UTSW 16 72,801,555 (GRCm39) missense probably benign
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'- ACTGTGGTGCCATGATCTG -3'
(R):5'- GGTGGCTTATACACACCACTC -3'

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