Incidental Mutation 'R8905:Robo1'
ID 680058
Institutional Source Beutler Lab
Gene Symbol Robo1
Ensembl Gene ENSMUSG00000022883
Gene Name roundabout guidance receptor 1
Synonyms DUTT1
MMRRC Submission 068762-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8905 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 72105194-72842983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72539173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 90 (D90V)
Ref Sequence ENSEMBL: ENSMUSP00000156106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023600] [ENSMUST00000231580]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023600
AA Change: D72V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: D72V

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 damaging
Transcript: ENSMUST00000231580
AA Change: D90V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,553 (GRCm39) V236A probably benign Het
Abca15 A T 7: 119,960,771 (GRCm39) R744S probably benign Het
Adgra1 T C 7: 139,455,763 (GRCm39) S464P probably damaging Het
Arhgap45 T C 10: 79,855,570 (GRCm39) V3A probably benign Het
AW554918 T A 18: 25,473,206 (GRCm39) S134T probably damaging Het
Bmper A G 9: 23,318,082 (GRCm39) E567G probably benign Het
C2cd3 T C 7: 100,074,132 (GRCm39) probably null Het
Cars1 A G 7: 143,140,196 (GRCm39) Y170H probably damaging Het
Celsr1 A T 15: 85,788,269 (GRCm39) probably benign Het
Celsr3 C T 9: 108,718,501 (GRCm39) H2351Y probably damaging Het
Cfap210 A G 2: 69,612,104 (GRCm39) S175P probably benign Het
Clxn A G 16: 14,738,275 (GRCm39) I147V possibly damaging Het
Cyp2d11 T C 15: 82,275,102 (GRCm39) I282V probably benign Het
Dhfr A G 13: 92,494,467 (GRCm39) T57A probably damaging Het
Dhrs7l T A 12: 72,666,431 (GRCm39) D80V probably damaging Het
Dnah7b A C 1: 46,292,534 (GRCm39) Q2973P probably damaging Het
Dnajc5b T C 3: 19,633,184 (GRCm39) C136R probably benign Het
Ercc3 T G 18: 32,398,771 (GRCm39) D683E possibly damaging Het
Faxc A G 4: 21,982,398 (GRCm39) Y279C probably damaging Het
Fbxw7 T C 3: 84,872,634 (GRCm39) M191T possibly damaging Het
Fcgbp T A 7: 27,785,934 (GRCm39) V457E probably damaging Het
Fip1l1 A T 5: 74,756,624 (GRCm39) T539S probably damaging Het
Gabra1 T C 11: 42,038,052 (GRCm39) T189A possibly damaging Het
Glg1 T C 8: 111,884,668 (GRCm39) D1118G probably damaging Het
Gli3 A G 13: 15,901,116 (GRCm39) D1501G probably benign Het
Hacd1 A G 2: 14,049,761 (GRCm39) I91T possibly damaging Het
Ift22 T C 5: 136,941,745 (GRCm39) V159A probably benign Het
Igkv1-110 T A 6: 68,248,070 (GRCm39) Y60N probably damaging Het
Inpp5d A G 1: 87,637,348 (GRCm39) K502E probably damaging Het
Kcnt2 A T 1: 140,435,467 (GRCm39) Q478L possibly damaging Het
Mettl13 A G 1: 162,364,847 (GRCm39) F511L probably damaging Het
Mis18bp1 T C 12: 65,180,401 (GRCm39) probably null Het
Mrps30 A T 13: 118,523,479 (GRCm39) S98T probably benign Het
Muc2 C T 7: 141,279,643 (GRCm39) A209V probably benign Het
Nfs1 A T 2: 155,970,503 (GRCm39) I270N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nsmaf A G 4: 6,424,951 (GRCm39) S266P probably benign Het
Obscn A G 11: 58,960,784 (GRCm39) S3176P probably damaging Het
Or4c123 A T 2: 89,126,801 (GRCm39) L271Q possibly damaging Het
Or7g12 A G 9: 18,899,494 (GRCm39) D70G possibly damaging Het
P2ry12 T A 3: 59,124,997 (GRCm39) Y226F probably damaging Het
Pabpc2 C A 18: 39,907,704 (GRCm39) T323K probably benign Het
Pank2 A G 2: 131,124,646 (GRCm39) D71G possibly damaging Het
Patj A T 4: 98,385,412 (GRCm39) H393L probably damaging Het
Pde8b A G 13: 95,182,993 (GRCm39) V255A probably damaging Het
Plekhs1 T C 19: 56,471,028 (GRCm39) W374R probably damaging Het
Ppm1g T C 5: 31,361,437 (GRCm39) D313G probably damaging Het
Rnf114 A G 2: 167,353,134 (GRCm39) N135S probably benign Het
Rnf43 T G 11: 87,621,951 (GRCm39) Y351D probably damaging Het
Sbds A G 5: 130,277,125 (GRCm39) V172A possibly damaging Het
Scamp5 T A 9: 57,352,669 (GRCm39) I167F probably benign Het
Sec14l5 A G 16: 4,994,364 (GRCm39) E386G probably damaging Het
Sfxn1 T A 13: 54,246,433 (GRCm39) V159E probably damaging Het
Sgsm1 C T 5: 113,421,495 (GRCm39) G531R probably benign Het
Slc22a26 T A 19: 7,760,331 (GRCm39) I471F probably damaging Het
Slc41a3 T A 6: 90,589,123 (GRCm39) M78K probably benign Het
Slc8a1 A T 17: 81,749,084 (GRCm39) Y653N probably benign Het
Slco6c1 A T 1: 97,053,391 (GRCm39) M170K possibly damaging Het
Smarca5 A T 8: 81,440,577 (GRCm39) I629K probably benign Het
Smg7 T A 1: 152,715,817 (GRCm39) D1099V probably damaging Het
Spata31e2 A G 1: 26,721,895 (GRCm39) V1095A probably damaging Het
Srbd1 T C 17: 86,308,890 (GRCm39) I763V probably benign Het
Stk25 A G 1: 93,556,929 (GRCm39) S30P probably damaging Het
Sv2b C T 7: 74,767,459 (GRCm39) A646T probably benign Het
Tardbp T C 4: 148,705,093 (GRCm39) M167V probably benign Het
Tmem132a T C 19: 10,842,647 (GRCm39) N276S probably damaging Het
Ttpa T A 4: 20,028,435 (GRCm39) S162T probably benign Het
Usp13 T C 3: 32,935,572 (GRCm39) Y333H probably damaging Het
Vmn2r3 T A 3: 64,166,695 (GRCm39) Y812F probably damaging Het
Yeats2 A G 16: 20,009,144 (GRCm39) T463A probably benign Het
Zbtb26 T A 2: 37,326,927 (GRCm39) K36N probably benign Het
Zfc3h1 A T 10: 115,259,383 (GRCm39) T1652S probably benign Het
Zfp472 G A 17: 33,197,455 (GRCm39) C510Y possibly damaging Het
Zfp518a C A 19: 40,902,780 (GRCm39) T903K probably damaging Het
Zfp668 T C 7: 127,465,598 (GRCm39) T529A probably benign Het
Zfp930 A G 8: 69,681,351 (GRCm39) T349A possibly damaging Het
Zmiz2 T G 11: 6,346,840 (GRCm39) Y182D 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
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'- GCTTCTGTAGTGAGACCTTTAACC -3'
(R):5'- ACTTACTAGCTACCTCCAGCG -3'

Sequencing Primer
(F):5'- GAGACCTTTAACCGATTTTCAGATGG -3'
(R):5'- TACCTCCAGCGATGCGTTG -3'
Posted On 2021-08-31