Incidental Mutation 'R7296:Robo1'
ID 571660
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 045400-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7296 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 72786519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 844 (Q844*)
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: Q844*
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: Q844*

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 probably null
Transcript: ENSMUST00000232205
AA Change: Q853*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (85/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,302 (GRCm39) M226K probably benign Het
4921524L21Rik T G 18: 6,626,385 (GRCm39) S132R probably damaging Het
A4gnt T G 9: 99,502,335 (GRCm39) I165S probably damaging Het
Abca14 G A 7: 119,877,534 (GRCm39) D1061N probably benign Het
Abcc9 G A 6: 142,617,319 (GRCm39) P582S probably damaging Het
Abhd5 G A 9: 122,208,638 (GRCm39) V343I probably benign Het
Adam6a C T 12: 113,509,192 (GRCm39) R522C probably damaging Het
Ankle2 G A 5: 110,385,590 (GRCm39) R313H probably damaging Het
Aplf G A 6: 87,623,197 (GRCm39) T315I probably damaging Het
Asic5 C T 3: 81,928,383 (GRCm39) P491S probably benign Het
Atp5f1b T C 10: 127,921,391 (GRCm39) Y230H probably benign Het
B4galt6 A T 18: 20,861,099 (GRCm39) I51N probably damaging Het
Bmal2 G A 6: 146,723,632 (GRCm39) V321I not run Het
C4b A G 17: 34,962,633 (GRCm39) L23S probably damaging Het
Cables2 A G 2: 179,902,129 (GRCm39) V410A Het
Ccdc168 T A 1: 44,100,076 (GRCm39) K341* probably null Het
Cdyl A G 13: 36,047,378 (GRCm39) M489V probably damaging Het
Clip4 T C 17: 72,096,996 (GRCm39) M40T probably damaging Het
Col12a1 T C 9: 79,589,348 (GRCm39) Y1069C probably damaging Het
Col6a3 T C 1: 90,755,708 (GRCm39) M194V probably benign Het
Colec11 T A 12: 28,644,714 (GRCm39) D260V probably damaging Het
Cracdl T C 1: 37,653,699 (GRCm39) T1036A possibly damaging Het
Cux2 T C 5: 121,999,319 (GRCm39) D1207G probably benign Het
Cyp2d34 G T 15: 82,501,436 (GRCm39) N297K possibly damaging Het
Dmbt1 A G 7: 130,713,861 (GRCm39) Y1643C unknown Het
Dnmt3c A G 2: 153,556,946 (GRCm39) T288A probably benign Het
Dock8 T A 19: 25,162,245 (GRCm39) F1842I probably benign Het
Dysf A G 6: 84,083,880 (GRCm39) I740V probably benign Het
Epha6 T A 16: 59,736,201 (GRCm39) M778L probably benign Het
Eri2 A T 7: 119,385,739 (GRCm39) L254* probably null Het
Fam43b A G 4: 138,123,152 (GRCm39) F56S probably damaging Het
Fat4 C A 3: 38,943,294 (GRCm39) S729* probably null Het
Fbxw22 C A 9: 109,211,143 (GRCm39) W386L probably benign Het
Fgd6 T A 10: 93,879,909 (GRCm39) C254* probably null Het
Fgd6 C A 10: 93,975,743 (GRCm39) T1386K probably benign Het
Fkbp7 G T 2: 76,502,108 (GRCm39) D98E possibly damaging Het
Hectd1 C T 12: 51,832,635 (GRCm39) C913Y possibly damaging Het
Hgf T A 5: 16,769,841 (GRCm39) M105K probably benign Het
Icam1 A C 9: 20,930,311 (GRCm39) D55A probably benign Het
Itga2 A C 13: 114,993,930 (GRCm39) probably null Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Klra17 T A 6: 129,808,555 (GRCm39) N226I possibly damaging Het
Krt1 T A 15: 101,759,064 (GRCm39) R33S unknown Het
L3mbtl3 T A 10: 26,158,728 (GRCm39) D615V unknown Het
Lrp2 T A 2: 69,312,725 (GRCm39) Y2521F probably benign Het
Megf10 A T 18: 57,408,825 (GRCm39) N589I probably damaging Het
Metap1d G C 2: 71,337,129 (GRCm39) G14A probably benign Het
Mfap5 T A 6: 122,505,381 (GRCm39) D162E probably benign Het
Mixl1 T C 1: 180,524,523 (GRCm39) I19V probably benign Het
Mtrr G T 13: 68,716,979 (GRCm39) Y411* probably null Het
Myh7 T C 14: 55,227,482 (GRCm39) T318A probably benign Het
Nbeal1 T A 1: 60,349,383 (GRCm39) Y2348* probably null Het
Nhsl3 A G 4: 129,119,211 (GRCm39) Y170H probably damaging Het
Niban2 T C 2: 32,812,654 (GRCm39) S468P possibly damaging Het
Nlrc3 T C 16: 3,781,454 (GRCm39) S668G probably damaging Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or10ag59 T A 2: 87,406,052 (GRCm39) V208E probably damaging Het
Or12j2 A T 7: 139,916,654 (GRCm39) D293V possibly damaging Het
Or4c117 C A 2: 88,955,180 (GRCm39) R298S probably benign Het
Pcna A G 2: 132,094,797 (GRCm39) S54P probably benign Het
Pde6a A G 18: 61,391,364 (GRCm39) T570A probably damaging Het
Phf21b A T 15: 84,739,918 (GRCm39) M1K probably null Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prob1 A G 18: 35,786,352 (GRCm39) F634S possibly damaging Het
Prss50 A G 9: 110,690,357 (GRCm39) T167A probably damaging Het
Ptpn1 T C 2: 167,816,692 (GRCm39) V249A probably damaging Het
Rai1 G A 11: 60,079,499 (GRCm39) V1188I probably benign Het
Ric1 G A 19: 29,561,978 (GRCm39) probably null Het
Rpn1 A G 6: 88,061,619 (GRCm39) D36G possibly damaging Het
Serpinb1b A T 13: 33,277,810 (GRCm39) M348L probably benign Het
Setd4 T C 16: 93,380,830 (GRCm39) probably null Het
Setd5 T G 6: 113,124,518 (GRCm39) S1124A probably benign Het
Slc35c1 C A 2: 92,289,084 (GRCm39) V154F probably damaging Het
Slc7a6os G T 8: 106,937,121 (GRCm39) S113* probably null Het
Syne2 T A 12: 76,149,810 (GRCm39) D1787E probably benign Het
Tas2r144 A C 6: 42,192,373 (GRCm39) I38L probably damaging Het
Tepsin G T 11: 119,982,534 (GRCm39) T512K possibly damaging Het
Utp20 A G 10: 88,606,586 (GRCm39) V1662A probably benign Het
Vmn1r201 C T 13: 22,659,509 (GRCm39) A241V possibly damaging Het
Vmn2r60 T A 7: 41,785,826 (GRCm39) S210T probably benign Het
Wdr6 G T 9: 108,451,784 (GRCm39) H700N probably damaging Het
Zdhhc8 T C 16: 18,052,790 (GRCm39) T29A probably benign Het
Zfp335 A G 2: 164,742,052 (GRCm39) I614T probably damaging Het
Zfp54 T A 17: 21,653,844 (GRCm39) S113T probably benign Het
Zfp873 T A 10: 81,897,071 (GRCm39) C601S probably damaging Het
Zfyve26 T C 12: 79,325,146 (GRCm39) probably null Het
Zmynd8 T C 2: 165,681,929 (GRCm39) T201A 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
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'- AATCTCGCGAACTTCCCTG -3'
(R):5'- TGGCATAAAGAGCATGTTATCCG -3'

Sequencing Primer
(F):5'- AACTTCCCTGCGGTGGCTG -3'
(R):5'- AAAGGTTTTATGGCTGGCACACC -3'
Posted On 2019-09-13