Incidental Mutation 'R8218:Robo1'
ID 636513
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 067637-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8218 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 72786678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 897 (R897G)
Ref Sequence ENSEMBL: ENSMUSP00000023600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023600]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023600
AA Change: R897G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: R897G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 99% (72/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik G A 15: 84,839,668 (GRCm39) H191Y probably damaging Het
5730480H06Rik T A 5: 48,536,769 (GRCm39) L155* probably null Het
Ackr4 T C 9: 103,976,410 (GRCm39) N179S probably benign Het
Acp5 T C 9: 22,040,902 (GRCm39) Y107C probably damaging Het
Aff4 A T 11: 53,289,084 (GRCm39) H411L probably damaging Het
Atp5pb A G 3: 105,866,502 (GRCm39) M1T probably null Het
Atp8b5 G A 4: 43,372,728 (GRCm39) probably null Het
C1qtnf2 A G 11: 43,381,775 (GRCm39) T166A possibly damaging Het
Dctn2 A G 10: 127,112,398 (GRCm39) D170G probably damaging Het
Dennd3 T A 15: 73,384,622 (GRCm39) S10T probably benign Het
Ehbp1 T C 11: 22,046,096 (GRCm39) Y551C possibly damaging Het
Eif4g2 A T 7: 110,673,639 (GRCm39) D743E possibly damaging Het
Esr1 G A 10: 4,696,808 (GRCm39) probably null Het
Exo1 A T 1: 175,728,480 (GRCm39) I515L probably benign Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Garin1a T C 6: 29,286,072 (GRCm39) I177T probably damaging Het
Gcn1 G A 5: 115,719,588 (GRCm39) S361N probably benign Het
Gm6337 C T 14: 6,050,613 (GRCm38) probably null Het
Grk4 T A 5: 34,826,540 (GRCm39) S47T probably benign Het
Gstp2 C A 19: 4,091,668 (GRCm39) M20I probably benign Het
Harbi1 T C 2: 91,543,237 (GRCm39) F233L probably benign Het
Iqch C T 9: 63,389,915 (GRCm39) V755I possibly damaging Het
Iws1 T C 18: 32,226,688 (GRCm39) F756L probably benign Het
Kcnh6 T G 11: 105,908,200 (GRCm39) V272G possibly damaging Het
Kcnj10 C T 1: 172,196,539 (GRCm39) R18C probably damaging Het
Kmt2c A C 5: 25,488,104 (GRCm39) S4670A probably damaging Het
Krt80 T G 15: 101,267,884 (GRCm39) M18L probably benign Het
Lbx1 A G 19: 45,223,359 (GRCm39) V103A probably benign Het
Marchf8 A T 6: 116,315,059 (GRCm39) probably benign Het
Muc16 T A 9: 18,548,315 (GRCm39) T5993S possibly damaging Het
Or10ag57 C T 2: 87,218,922 (GRCm39) T291I probably damaging Het
Or1j17 A G 2: 36,578,685 (GRCm39) T224A probably benign Het
Or1o4 A G 17: 37,590,711 (GRCm39) V200A probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pbxip1 A G 3: 89,352,902 (GRCm39) I183V probably benign Het
Pcdh20 T A 14: 88,706,047 (GRCm39) I418F probably damaging Het
Pclo T C 5: 14,725,677 (GRCm39) F1512L unknown Het
Phf2 G T 13: 48,958,104 (GRCm39) T970K unknown Het
Pidd1 A G 7: 141,019,566 (GRCm39) V698A probably damaging Het
Pik3ca T A 3: 32,491,996 (GRCm39) V198D possibly damaging Het
Pip5k1c T A 10: 81,142,250 (GRCm39) D153E probably damaging Het
Ppfia2 A G 10: 106,699,236 (GRCm39) D795G probably benign Het
Pramel12 A T 4: 143,145,706 (GRCm39) I392F probably benign Het
Prkar2a C A 9: 108,596,448 (GRCm39) A131D possibly damaging Het
Pter A G 2: 12,985,366 (GRCm39) D232G probably damaging Het
Qser1 C T 2: 104,593,268 (GRCm39) R1583Q probably damaging Het
Rasal2 A C 1: 156,984,951 (GRCm39) V932G probably damaging Het
Rasgrf2 G A 13: 92,130,796 (GRCm39) A154V Het
Rbm4 A G 19: 4,837,444 (GRCm39) Y347H probably damaging Het
Rfxank C A 8: 70,584,085 (GRCm39) probably null Het
Sash1 G A 10: 8,627,000 (GRCm39) T364I probably damaging Het
Skint6 T A 4: 112,696,471 (GRCm39) probably null Het
Slc22a4 T A 11: 53,877,407 (GRCm39) M495L probably benign Het
Slc39a8 G A 3: 135,563,325 (GRCm39) V212I probably benign Het
Slc40a1 A C 1: 45,950,129 (GRCm39) V441G probably benign Het
Slc7a11 A T 3: 50,378,501 (GRCm39) Y246N probably damaging Het
Spata9 T C 13: 76,125,892 (GRCm39) V125A probably benign Het
Svopl T A 6: 37,991,741 (GRCm39) M380L probably benign Het
Sycp2l T C 13: 41,271,544 (GRCm39) Y23H probably damaging Het
Syt11 A T 3: 88,669,427 (GRCm39) V155E probably benign Het
Syt5 T C 7: 4,545,822 (GRCm39) Y147C probably damaging Het
Thg1l T C 11: 45,846,277 (GRCm39) T6A probably benign Het
Tlr2 A G 3: 83,745,546 (GRCm39) L179P probably damaging Het
Tsn A T 1: 118,232,984 (GRCm39) Y107N probably damaging Het
Tspan32 A T 7: 142,564,832 (GRCm39) Y114F probably benign Het
Tube1 A C 10: 39,023,375 (GRCm39) S341R possibly damaging Het
Ubn2 T A 6: 38,466,214 (GRCm39) V516D probably benign Het
Vmn1r21 G T 6: 57,820,910 (GRCm39) T178K noncoding transcript Het
Vmn2r108 A G 17: 20,683,465 (GRCm39) Y580H probably damaging Het
Wdr75 T A 1: 45,857,342 (GRCm39) F546L probably damaging Het
Yy1 A G 12: 108,759,619 (GRCm39) D94G probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zfy2 T C Y: 2,133,421 (GRCm39) T9A unknown 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
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
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'- ACCTTTCAGATTCTCACGGAAACC -3'
(R):5'- CAAAACCTAGGCAGTGGGTTC -3'

Sequencing Primer
(F):5'- AAACCCCGTGTCTCCCGAG -3'
(R):5'- GTTCTGAGGCTGACAAATTCG -3'
Posted On 2020-07-13