Incidental Mutation 'R9246:Robo1'
ID 701326
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 # R9246 (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 72769178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 532 (D532E)
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: D532E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: D532E

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: 99.7%
  • 20x: 98.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,279,961 (GRCm39) T314I probably benign Het
Abca7 G A 10: 79,838,535 (GRCm39) S603N probably damaging Het
Abcc2 T C 19: 43,786,882 (GRCm39) F168L probably benign Het
Abcc8 T C 7: 45,774,289 (GRCm39) T764A probably benign Het
Acot4 A C 12: 84,090,097 (GRCm39) I265L probably benign Het
Adrb2 C A 18: 62,312,226 (GRCm39) A200S probably damaging Het
Atp2c2 G T 8: 120,456,989 (GRCm39) R197L probably damaging Het
Bmpr1a T C 14: 34,156,664 (GRCm39) T121A probably benign Het
Brwd1 A T 16: 95,804,016 (GRCm39) S2051R probably benign Het
Card10 T C 15: 78,673,036 (GRCm39) E547G possibly damaging Het
Cbln1 A T 8: 88,197,048 (GRCm39) I139N probably damaging Het
Ccdc86 CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA 19: 10,926,162 (GRCm39) probably benign Het
Cdh16 C T 8: 105,344,602 (GRCm39) D510N probably benign Het
Cdh2 G A 18: 16,781,654 (GRCm39) Q146* probably null Het
Cdhr1 T G 14: 36,801,654 (GRCm39) K763T possibly damaging Het
Cfl1 G C 19: 5,543,634 (GRCm39) G204R probably damaging Het
Clcn6 A T 4: 148,113,866 (GRCm39) V64E probably benign Het
Col4a4 G A 1: 82,430,956 (GRCm39) P1649S unknown Het
Ctnna1 T A 18: 35,356,562 (GRCm39) N410K probably benign Het
Dhx34 A G 7: 15,937,162 (GRCm39) F845S probably damaging Het
Dnah7c T G 1: 46,571,934 (GRCm39) N802K possibly damaging Het
Dnmt3a T C 12: 3,949,204 (GRCm39) S492P probably damaging Het
Fhit C A 14: 10,421,494 (GRCm38) probably null Het
Fzd2 A T 11: 102,496,749 (GRCm39) I398F possibly damaging Het
Gm9195 A G 14: 72,710,314 (GRCm39) S457P probably benign Het
Gnao1 A G 8: 94,676,967 (GRCm39) K211E Het
Gzme T C 14: 56,356,198 (GRCm39) D100G probably benign Het
Hook3 T C 8: 26,562,319 (GRCm39) T249A probably benign Het
Hoxd4 G A 2: 74,558,747 (GRCm39) C190Y possibly damaging Het
Hr T A 14: 70,808,915 (GRCm39) V1097E probably damaging Het
Iqca1l T G 5: 24,753,969 (GRCm39) E430A probably benign Het
Kdm3b A T 18: 34,941,480 (GRCm39) K524* probably null Het
Kif18a A G 2: 109,163,819 (GRCm39) T723A probably benign Het
Kif1a A G 1: 93,005,501 (GRCm39) V91A probably damaging Het
Krtap19-2 AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA AAAGCCTCCA 16: 88,670,859 (GRCm39) probably benign Het
Lama3 G A 18: 12,710,959 (GRCm39) V1559M probably damaging Het
Maco1 A G 4: 134,565,242 (GRCm39) V47A possibly damaging Het
Msto1 A T 3: 88,819,411 (GRCm39) I160N probably damaging Het
Muc5ac C A 7: 141,364,215 (GRCm39) Q2509K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1ad8 T A 11: 50,897,891 (GRCm39) F31I probably damaging Het
Or2ag2b C T 7: 106,417,938 (GRCm39) T216I probably benign Het
Or52ad1 C T 7: 102,995,908 (GRCm39) V76I probably damaging Het
Or7e170 T C 9: 19,795,686 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,222 (GRCm39) M136K probably damaging Het
Pik3c3 C A 18: 30,466,364 (GRCm39) A805D probably damaging Het
Pnn A G 12: 59,116,929 (GRCm39) Q167R probably damaging Het
Pogk G T 1: 166,226,380 (GRCm39) H590Q probably damaging Het
Prkcd A G 14: 30,327,432 (GRCm39) L251P probably damaging Het
Prrc1 T A 18: 57,496,208 (GRCm39) V53E probably benign Het
Ripor1 T C 8: 106,345,522 (GRCm39) F856S unknown Het
Rnf31 G A 14: 55,833,698 (GRCm39) A569T probably benign Het
Sh2d6 T A 6: 72,497,594 (GRCm39) K3* probably null Het
Slc22a27 T C 19: 7,874,209 (GRCm39) T289A probably benign Het
Speg T C 1: 75,361,498 (GRCm39) S171P probably damaging Het
Stag1 T A 9: 100,770,329 (GRCm39) F622I probably benign Het
Stxbp1 T C 2: 32,679,586 (GRCm39) D589G possibly damaging Het
Syne1 T C 10: 5,255,706 (GRCm39) I2391M probably benign Het
Sytl2 A G 7: 90,007,384 (GRCm39) M49V probably benign Het
Tmem185b T C 1: 119,454,368 (GRCm39) V43A probably damaging Het
Trappc8 A T 18: 20,993,590 (GRCm39) M499K possibly damaging Het
Vmn1r172 T A 7: 23,359,593 (GRCm39) S159R possibly damaging Het
Vmn1r62 A G 7: 5,678,628 (GRCm39) Y103C probably damaging Het
Vmn1r65 C T 7: 6,011,769 (GRCm39) C155Y possibly damaging Het
Vmn2r112 G A 17: 22,824,088 (GRCm39) V448I probably benign Het
Zfp592 A T 7: 80,691,529 (GRCm39) D1236V probably benign Het
Zfp827 T C 8: 79,803,132 (GRCm39) V568A possibly damaging Het
Zscan4-ps3 A T 7: 11,346,320 (GRCm39) I147F 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
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
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'- CGAAGTCCAGGGTAAATTCATACG -3'
(R):5'- AGCTGCTACCAGATGCATGG -3'

Sequencing Primer
(F):5'- AAAGCCAATGTCCTGGTCTC -3'
(R):5'- TGCATGTACCCCTTTGTG -3'
Posted On 2022-03-25