Incidental Mutation 'R4726:Robo1'
ID 358497
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 041989-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4726 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72768931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 499 (A499T)
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: A499T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: A499T

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: A508T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232545
Meta Mutation Damage Score 0.5075 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T C 17: 65,141,448 (GRCm39) S52G probably null Het
Abcc2 T C 19: 43,820,553 (GRCm39) S1351P probably benign Het
Acp2 T A 2: 91,034,622 (GRCm39) L87Q probably damaging Het
Adgrl3 C A 5: 81,794,425 (GRCm39) T550K possibly damaging Het
Amotl2 A G 9: 102,601,018 (GRCm39) R329G probably benign Het
Angel1 T C 12: 86,768,649 (GRCm39) N278S probably damaging Het
Ankrd12 A C 17: 66,277,319 (GRCm39) M1985R probably damaging Het
Apob T A 12: 8,040,267 (GRCm39) F535I probably damaging Het
Art3 A G 5: 92,559,002 (GRCm39) K313R probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Bsph1 A T 7: 13,206,920 (GRCm39) M99L probably benign Het
Ccdc153 T C 9: 44,154,963 (GRCm39) probably null Het
Cdh16 A T 8: 105,342,664 (GRCm39) M28K probably damaging Het
Cdhr2 T C 13: 54,866,352 (GRCm39) F353L probably damaging Het
Chrna2 G T 14: 66,386,345 (GRCm39) V164L possibly damaging Het
Cip2a A G 16: 48,834,433 (GRCm39) T672A probably benign Het
Ckmt1 T C 2: 121,191,712 (GRCm39) probably null Het
Col25a1 A T 3: 130,313,430 (GRCm39) E280V possibly damaging Het
Dnajc12 A G 10: 63,233,087 (GRCm39) D76G probably damaging Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Ecpas A G 4: 58,844,191 (GRCm39) V525A probably damaging Het
Ehbp1l1 C A 19: 5,769,204 (GRCm39) A700S possibly damaging Het
Gab1 T C 8: 81,515,682 (GRCm39) D212G possibly damaging Het
Gm26996 A G 6: 130,557,134 (GRCm39) noncoding transcript Het
Gm28113 A G 15: 75,198,577 (GRCm39) noncoding transcript Het
Has3 T C 8: 107,604,718 (GRCm39) F308S probably damaging Het
Ifit3b T A 19: 34,588,860 (GRCm39) I12N probably benign Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Ints3 A G 3: 90,301,084 (GRCm39) S840P probably damaging Het
Itih4 T C 14: 30,611,792 (GRCm39) V132A probably damaging Het
Itprid2 T A 2: 79,493,101 (GRCm39) I1216N probably damaging Het
Kcnj10 A G 1: 172,196,639 (GRCm39) Y51C probably damaging Het
Klk1b24 G A 7: 43,839,820 (GRCm39) V60I probably damaging Het
Klra14-ps C A 6: 130,134,626 (GRCm39) noncoding transcript Het
Krt6b A G 15: 101,586,520 (GRCm39) I323T probably damaging Het
Lilra5 A C 7: 4,240,957 (GRCm39) Q17P probably benign Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Map3k4 T C 17: 12,451,851 (GRCm39) N1479S possibly damaging Het
Mbd3l2 A T 9: 18,356,256 (GRCm39) I194F probably damaging Het
Megf10 T C 18: 57,420,864 (GRCm39) I834T probably benign Het
Mterf4 G A 1: 93,229,471 (GRCm39) T251M probably damaging Het
Mtmr3 A T 11: 4,457,634 (GRCm39) D170E probably damaging Het
Myom3 C T 4: 135,534,586 (GRCm39) probably null Het
Nemp1 G A 10: 127,530,462 (GRCm39) V305I probably benign Het
Nlrp1b G T 11: 71,072,232 (GRCm39) T537K probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5b3 T A 19: 13,388,469 (GRCm39) C179S probably damaging Het
Or6c206 A G 10: 129,097,045 (GRCm39) T72A possibly damaging Het
Or8k28 A G 2: 86,286,580 (GRCm39) F12L possibly damaging Het
Pias1 A G 9: 62,827,771 (GRCm39) V212A probably damaging Het
Plscr1 T A 9: 92,145,221 (GRCm39) V77D probably damaging Het
Plxna1 T C 6: 89,299,798 (GRCm39) N1657S probably damaging Het
Ptprf A G 4: 118,069,414 (GRCm39) V1551A possibly damaging Het
Ptprn2 C A 12: 117,211,393 (GRCm39) Y857* probably null Het
Puf60 A T 15: 75,944,183 (GRCm39) probably null Het
Rnf20 C T 4: 49,654,579 (GRCm39) R879* probably null Het
Slc39a14 A G 14: 70,551,048 (GRCm39) probably null Het
Smarcad1 A T 6: 65,052,025 (GRCm39) H6L probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Stk39 T A 2: 68,093,647 (GRCm39) D488V probably damaging Het
Stx19 A G 16: 62,642,495 (GRCm39) N104D probably benign Het
Tcstv1b A T 13: 120,635,173 (GRCm39) S152C possibly damaging Het
Tmem222 T C 4: 133,004,975 (GRCm39) M21V probably benign Het
Trim43b T A 9: 88,971,538 (GRCm39) N205I possibly damaging Het
Ubr4 C A 4: 139,209,890 (GRCm39) H5017N possibly damaging Het
Vmn2r93 A G 17: 18,536,960 (GRCm39) T548A probably damaging Het
Vps8 G A 16: 21,267,154 (GRCm39) probably null Het
Wasl A G 6: 24,633,110 (GRCm39) V176A probably benign Het
Wbp2nl T A 15: 82,190,255 (GRCm39) V61E probably damaging Het
Zfp959 T A 17: 56,205,260 (GRCm39) probably null Het
Zmiz1 T C 14: 25,644,098 (GRCm39) probably null 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
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'- AGGGGCATTTCTGGTTCAAAG -3'
(R):5'- CATCTGTAACTTCGGGCTTTGAG -3'

Sequencing Primer
(F):5'- TTTTCCAGCCCAGAAAGG -3'
(R):5'- GGTTGAACTGGAACCCCAAATTC -3'
Posted On 2015-11-11