Incidental Mutation 'R9509:Robo1'
ID 718044
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9509 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72759167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 393 (N393K)
Ref Sequence ENSEMBL: ENSMUSP00000023600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023600]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023600
AA Change: N393K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: N393K

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik TTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCC 3: 137,771,595 (GRCm39) probably benign Het
Acan C T 7: 78,740,768 (GRCm39) P378L probably damaging Het
Akap6 A G 12: 53,189,021 (GRCm39) D2145G probably damaging Het
Akap9 A T 5: 4,096,349 (GRCm39) D2408V probably benign Het
Apol10a C A 15: 77,372,968 (GRCm39) Y201* probably null Het
Arhgef4 T C 1: 34,762,772 (GRCm39) I676T unknown Het
Capn13 T C 17: 73,644,446 (GRCm39) H361R probably benign Het
Ccdc88a G A 11: 29,414,143 (GRCm39) V894I probably benign Het
Chd4 T A 6: 125,099,485 (GRCm39) L1655Q possibly damaging Het
Chi3l1 G A 1: 134,116,413 (GRCm39) E307K probably damaging Het
Dhfr T A 13: 92,504,739 (GRCm39) I139N probably damaging Het
Dock8 A G 19: 25,072,985 (GRCm39) S422G probably benign Het
Dspp C A 5: 104,325,657 (GRCm39) D673E unknown Het
Dst G T 1: 33,947,465 (GRCm39) W38L possibly damaging Het
Dynlt1b A T 17: 6,702,415 (GRCm39) E26D probably benign Het
Dysf A T 6: 84,187,779 (GRCm39) Y2059F probably damaging Het
Efcab5 G A 11: 76,994,977 (GRCm39) S1198F possibly damaging Het
Erp44 T C 4: 48,208,750 (GRCm39) I237V probably benign Het
Exosc2 G A 2: 31,564,755 (GRCm39) V107I probably benign Het
Fat2 A G 11: 55,200,713 (GRCm39) V787A possibly damaging Het
Fbn2 C G 18: 58,247,550 (GRCm39) G448A probably benign Het
Fbxw21 A G 9: 108,977,217 (GRCm39) V164A possibly damaging Het
Gabpa G A 16: 84,649,395 (GRCm39) V201I possibly damaging Het
Gm12253 G A 11: 58,330,771 (GRCm39) V177M probably benign Het
Il2rb C A 15: 78,374,416 (GRCm39) W84L probably damaging Het
Kank4 T A 4: 98,663,104 (GRCm39) T695S possibly damaging Het
Klhl29 T C 12: 5,190,629 (GRCm39) Q122R probably damaging Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Lifr A G 15: 7,188,955 (GRCm39) Y112C probably damaging Het
Lins1 C T 7: 66,358,119 (GRCm39) Q85* probably null Het
Lpcat1 T A 13: 73,642,951 (GRCm39) V175E probably damaging Het
Mdm1 T C 10: 117,982,730 (GRCm39) S122P probably damaging Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Mylk4 T C 13: 32,904,543 (GRCm39) N197S probably benign Het
Neurl4 T A 11: 69,792,971 (GRCm39) L83* probably null Het
Nlrc3 T C 16: 3,782,680 (GRCm39) D259G probably damaging Het
Nsf A T 11: 103,754,074 (GRCm39) D487E probably benign Het
Or2n1e A G 17: 38,586,281 (GRCm39) I206M probably benign Het
Or2y1 A G 11: 49,385,476 (GRCm39) I39V probably benign Het
Or5p50 T A 7: 107,422,440 (GRCm39) T79S probably benign Het
Palb2 T A 7: 121,727,399 (GRCm39) K157M probably damaging Het
Pbrm1 T C 14: 30,806,914 (GRCm39) S1114P probably damaging Het
Pdia6 T A 12: 17,330,989 (GRCm39) M364K probably damaging Het
Pf4 G T 5: 90,921,048 (GRCm39) G83W probably damaging Het
Pibf1 T C 14: 99,338,721 (GRCm39) M79T probably benign Het
Pip4p2 T A 4: 14,892,485 (GRCm39) C116* probably null Het
Polr3b T G 10: 84,467,650 (GRCm39) Y77D probably damaging Het
Pomt2 T A 12: 87,184,802 (GRCm39) H208L possibly damaging Het
Pprc1 A T 19: 46,051,838 (GRCm39) K456M unknown Het
Rasgef1a A T 6: 118,061,391 (GRCm39) K119* probably null Het
Rbbp6 T A 7: 122,597,791 (GRCm39) Y701N unknown Het
Relch A G 1: 105,614,704 (GRCm39) E216G probably damaging Het
Reln A T 5: 22,549,198 (GRCm39) V70E possibly damaging Het
Rgs17 T C 10: 5,812,576 (GRCm39) N41S probably benign Het
Rhbdf1 A T 11: 32,165,055 (GRCm39) I106N possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scart2 T A 7: 139,879,644 (GRCm39) Y1093* probably null Het
Scnn1a A T 6: 125,319,604 (GRCm39) D495V probably damaging Het
Serpinf2 G A 11: 75,328,895 (GRCm39) P45L probably benign Het
Setdb1 A C 3: 95,261,900 (GRCm39) I122S possibly damaging Het
Slc4a9 A T 18: 36,668,443 (GRCm39) M701L probably damaging Het
Spata31h1 A T 10: 82,132,229 (GRCm39) N260K probably benign Het
Supv3l1 T C 10: 62,265,411 (GRCm39) T710A probably benign Het
Syne1 A T 10: 5,298,927 (GRCm39) probably null Het
Tenm3 A T 8: 48,766,292 (GRCm39) Y743* probably null Het
Tgm2 A T 2: 157,969,210 (GRCm39) Y388* probably null Het
Tor3a A G 1: 156,483,499 (GRCm39) S308P possibly damaging Het
Trim12a T C 7: 103,953,551 (GRCm39) K187E probably benign Het
Trpc1 C T 9: 95,625,249 (GRCm39) probably null Het
Uaca C T 9: 60,779,498 (GRCm39) T1295M possibly damaging Het
Ush2a T A 1: 188,648,440 (GRCm39) Y4682N probably damaging Het
Vldlr A G 19: 27,221,687 (GRCm39) N684S probably benign Het
Vmn2r72 T A 7: 85,404,075 (GRCm39) I39L probably benign Het
Vps13b A T 15: 35,841,457 (GRCm39) M2496L possibly damaging Het
Zbtb5 C T 4: 44,994,332 (GRCm39) V351M probably damaging Het
Zeb2 T A 2: 44,887,876 (GRCm39) T394S possibly damaging Het
Zfp352 A G 4: 90,112,943 (GRCm39) E361G probably damaging Het
Zfp54 C A 17: 21,654,629 (GRCm39) Y374* probably null Het
Zfp869 C A 8: 70,159,596 (GRCm39) G326W probably damaging Het
Zfyve28 C T 5: 34,354,892 (GRCm39) A806T 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
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
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'- AACTTCGCCACGCTCTTCAG -3'
(R):5'- AACAATAGAGTCGCTAAGTCGCTAG -3'

Sequencing Primer
(F):5'- TCAGACCTAGCGGTTAACCTG -3'
(R):5'- AGTCGCTAAGTCGCTAGTGCAC -3'
Posted On 2022-07-18