Incidental Mutation 'R8968:Robo2'
ID 682894
Institutional Source Beutler Lab
Gene Symbol Robo2
Ensembl Gene ENSMUSG00000052516
Gene Name roundabout guidance receptor 2
Synonyms 2600013A04Rik, 9430089E08Rik, D230004I22Rik
MMRRC Submission 068802-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R8968 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 73688727-74208713 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 73767941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117200] [ENSMUST00000117785] [ENSMUST00000226478] [ENSMUST00000227347]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000117200
SMART Domains Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 43 117 3.56e-9 SMART
IGc2 145 210 3.33e-9 SMART
IGc2 237 300 6.59e-13 SMART
IGc2 326 398 1.3e-11 SMART
IGc2 430 495 3.73e-12 SMART
FN3 522 604 1.42e-15 SMART
FN3 636 721 3.54e-2 SMART
FN3 736 823 6.15e-11 SMART
transmembrane domain 860 882 N/A INTRINSIC
low complexity region 1040 1065 N/A INTRINSIC
low complexity region 1072 1083 N/A INTRINSIC
low complexity region 1191 1199 N/A INTRINSIC
low complexity region 1210 1234 N/A INTRINSIC
low complexity region 1318 1342 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117785
SMART Domains Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 43 117 3.56e-9 SMART
IGc2 145 210 3.33e-9 SMART
IGc2 237 300 6.59e-13 SMART
IGc2 326 398 1.3e-11 SMART
IGc2 430 495 3.73e-12 SMART
FN3 522 604 1.42e-15 SMART
FN3 636 721 3.54e-2 SMART
FN3 736 823 6.15e-11 SMART
transmembrane domain 860 882 N/A INTRINSIC
low complexity region 1072 1107 N/A INTRINSIC
low complexity region 1114 1125 N/A INTRINSIC
low complexity region 1233 1241 N/A INTRINSIC
low complexity region 1252 1276 N/A INTRINSIC
low complexity region 1351 1362 N/A INTRINSIC
low complexity region 1451 1475 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226478
Predicted Effect probably benign
Transcript: ENSMUST00000227347
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(3) Gene trapped(3)

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,480,429 (GRCm39) L1153* probably null Het
Adamts2 T C 11: 50,683,550 (GRCm39) I944T possibly damaging Het
Aqp9 A T 9: 71,045,485 (GRCm39) C67* probably null Het
Armt1 G T 10: 4,404,150 (GRCm39) G412W probably damaging Het
B4galt1 T C 4: 40,807,243 (GRCm39) D381G probably benign Het
Bmp5 A T 9: 75,780,579 (GRCm39) H292L probably benign Het
Brpf1 T C 6: 113,299,510 (GRCm39) F1181S probably damaging Het
Btbd7 C A 12: 102,779,025 (GRCm39) G414C probably damaging Het
Ccdc65 A T 15: 98,616,723 (GRCm39) K204* probably null Het
Cdk5 T A 5: 24,627,379 (GRCm39) K88M probably damaging Het
Cdrt4 T A 11: 62,883,634 (GRCm39) L112Q probably damaging Het
Cenpb T C 2: 131,020,547 (GRCm39) E417G unknown Het
Cep135 T C 5: 76,754,576 (GRCm39) I351T possibly damaging Het
Ces1d A T 8: 93,914,383 (GRCm39) S226R probably damaging Het
Cfap97 T A 8: 46,623,114 (GRCm39) V168E possibly damaging Het
CN725425 T C 15: 91,130,090 (GRCm39) C318R possibly damaging Het
Cnga3 T A 1: 37,300,460 (GRCm39) D393E probably benign Het
Cplane1 A T 15: 8,230,765 (GRCm39) H1014L possibly damaging Het
Cpsf1 G A 15: 76,486,169 (GRCm39) R358* probably null Het
Cyp2b23 G A 7: 26,378,963 (GRCm39) P167L probably damaging Het
Cyp2c70 A T 19: 40,142,059 (GRCm39) H477Q probably benign Het
D930020B18Rik A C 10: 121,490,721 (GRCm39) Y107S probably damaging Het
Dhrs1 A T 14: 55,978,192 (GRCm39) F216I probably benign Het
Dmgdh A T 13: 93,845,767 (GRCm39) K474* probably null Het
Dsp T C 13: 38,335,596 (GRCm39) I11T possibly damaging Het
Erh G T 12: 80,684,282 (GRCm39) A65E probably benign Het
Fmnl1 AGGCTCTGG AGG 11: 103,077,444 (GRCm39) probably benign Het
Grid2 A C 6: 64,643,139 (GRCm39) H967P probably benign Het
Hc A G 2: 34,922,317 (GRCm39) I503T possibly damaging Het
Herc3 T C 6: 58,867,183 (GRCm39) L824S probably damaging Het
Hfm1 T C 5: 107,065,439 (GRCm39) D80G probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hspa1l A G 17: 35,196,230 (GRCm39) K90E possibly damaging Het
Impa2 G A 18: 67,451,497 (GRCm39) V264I probably benign Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Klhl38 C T 15: 58,185,500 (GRCm39) V410I probably benign Het
Lcn4 A G 2: 26,558,360 (GRCm39) I175T possibly damaging Het
Lipo2 C A 19: 33,726,917 (GRCm39) W40L probably damaging Het
Mgam A T 6: 40,734,745 (GRCm39) probably null Het
Myo16 T A 8: 10,619,700 (GRCm39) I1417N unknown Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4a66 T A 2: 88,531,137 (GRCm39) I179F probably benign Het
Or52e19b A T 7: 103,032,667 (GRCm39) C181S probably damaging Het
Or5j3 G A 2: 86,128,526 (GRCm39) R122H probably benign Het
Pcdha11 A G 18: 37,145,307 (GRCm39) N466S probably damaging Het
Pif1 C T 9: 65,499,076 (GRCm39) T432M probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pkd1l3 CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA 8: 110,350,420 (GRCm39) probably benign Het
Pole T C 5: 110,459,949 (GRCm39) S1118P possibly damaging Het
Ppp4r4 T C 12: 103,566,706 (GRCm39) M652T probably benign Het
Prex2 A T 1: 11,180,562 (GRCm39) K376* probably null Het
Prps1l1 A T 12: 35,035,205 (GRCm39) I107F probably damaging Het
Resf1 T A 6: 149,228,664 (GRCm39) V570D probably damaging Het
Rfc1 C T 5: 65,432,778 (GRCm39) V761I probably benign Het
Ripk4 T C 16: 97,547,203 (GRCm39) E353G probably benign Het
Rrm1 C T 7: 102,117,545 (GRCm39) A745V probably benign Het
Sash1 A T 10: 8,606,179 (GRCm39) V737D probably benign Het
Sel1l2 T C 2: 140,127,209 (GRCm39) K101E probably benign Het
Selenbp2 A T 3: 94,607,337 (GRCm39) I253F probably benign Het
Setd1a C T 7: 127,385,279 (GRCm39) P662L possibly damaging Het
Slc16a6 C T 11: 109,345,776 (GRCm39) V496I possibly damaging Het
Slc4a4 A T 5: 89,232,512 (GRCm39) M239L probably benign Het
Slc7a8 G C 14: 55,018,750 (GRCm39) A12G probably benign Het
Snx30 T C 4: 59,886,517 (GRCm39) S309P possibly damaging Het
Spen T C 4: 141,197,701 (GRCm39) N3389S probably benign Het
Spg11 T C 2: 121,922,687 (GRCm39) T921A probably damaging Het
Tanc2 T A 11: 105,758,400 (GRCm39) D720E possibly damaging Het
Tmprss9 A T 10: 80,730,163 (GRCm39) I688F possibly damaging Het
Trap1 A G 16: 3,862,490 (GRCm39) V596A possibly damaging Het
Ttc32 G T 12: 9,080,187 (GRCm39) R44L probably benign Het
Tusc3 T A 8: 39,597,898 (GRCm39) N288K probably benign Het
Ush2a G A 1: 188,127,956 (GRCm39) G656E probably damaging Het
Vill T C 9: 118,892,671 (GRCm39) probably null Het
Vmn1r5 A T 6: 56,963,182 (GRCm39) R286* probably null Het
Vmn2r14 T C 5: 109,365,533 (GRCm39) T514A probably benign Het
Vmn2r32 G A 7: 7,477,204 (GRCm39) H396Y probably benign Het
Vmn2r75 A T 7: 85,820,765 (GRCm39) Y56* probably null Het
Wdfy3 C T 5: 102,011,983 (GRCm39) S2668N probably benign Het
Wdr72 G A 9: 74,059,729 (GRCm39) D392N probably benign Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Other mutations in Robo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Robo2 APN 16 73,758,588 (GRCm39) missense probably benign
IGL00849:Robo2 APN 16 73,770,665 (GRCm39) missense possibly damaging 0.80
IGL00908:Robo2 APN 16 73,782,579 (GRCm39) missense probably damaging 0.98
IGL00944:Robo2 APN 16 73,730,585 (GRCm39) missense possibly damaging 0.92
IGL00955:Robo2 APN 16 73,812,860 (GRCm39) missense probably damaging 1.00
IGL00970:Robo2 APN 16 73,693,934 (GRCm39) missense probably benign 0.00
IGL01020:Robo2 APN 16 73,725,039 (GRCm39) missense probably benign 0.06
IGL01347:Robo2 APN 16 74,149,744 (GRCm39) missense probably damaging 1.00
IGL02280:Robo2 APN 16 73,843,704 (GRCm39) missense probably damaging 1.00
IGL02424:Robo2 APN 16 73,770,189 (GRCm39) missense possibly damaging 0.89
IGL03376:Robo2 APN 16 73,753,380 (GRCm39) missense probably damaging 1.00
LCD18:Robo2 UTSW 16 74,055,954 (GRCm38) intron probably benign
P0018:Robo2 UTSW 16 73,843,694 (GRCm39) missense possibly damaging 0.82
R0314:Robo2 UTSW 16 73,753,525 (GRCm39) missense probably damaging 1.00
R0324:Robo2 UTSW 16 73,764,739 (GRCm39) missense probably damaging 1.00
R0539:Robo2 UTSW 16 73,782,462 (GRCm39) splice site probably benign
R0620:Robo2 UTSW 16 73,764,690 (GRCm39) missense possibly damaging 0.92
R0630:Robo2 UTSW 16 73,713,093 (GRCm39) missense probably benign 0.05
R0701:Robo2 UTSW 16 73,843,762 (GRCm39) missense probably damaging 1.00
R1155:Robo2 UTSW 16 73,831,996 (GRCm39) missense probably damaging 1.00
R1168:Robo2 UTSW 16 73,745,184 (GRCm39) missense probably damaging 1.00
R1195:Robo2 UTSW 16 73,713,016 (GRCm39) splice site probably null
R1195:Robo2 UTSW 16 73,713,016 (GRCm39) splice site probably null
R1195:Robo2 UTSW 16 73,713,016 (GRCm39) splice site probably null
R1317:Robo2 UTSW 16 73,831,912 (GRCm39) missense probably damaging 1.00
R1422:Robo2 UTSW 16 73,775,336 (GRCm39) missense probably damaging 0.99
R1452:Robo2 UTSW 16 73,758,798 (GRCm39) missense probably damaging 1.00
R1649:Robo2 UTSW 16 73,695,889 (GRCm39) missense probably benign 0.36
R1709:Robo2 UTSW 16 73,753,411 (GRCm39) missense possibly damaging 0.83
R1751:Robo2 UTSW 16 73,831,912 (GRCm39) missense probably damaging 1.00
R1761:Robo2 UTSW 16 73,831,912 (GRCm39) missense probably damaging 1.00
R1885:Robo2 UTSW 16 73,713,033 (GRCm39) missense probably benign 0.00
R1911:Robo2 UTSW 16 73,755,213 (GRCm39) missense probably damaging 1.00
R1919:Robo2 UTSW 16 73,696,042 (GRCm39) missense probably benign
R2005:Robo2 UTSW 16 73,730,003 (GRCm39) missense possibly damaging 0.82
R2851:Robo2 UTSW 16 73,758,776 (GRCm39) missense probably damaging 1.00
R3732:Robo2 UTSW 16 73,717,635 (GRCm39) missense possibly damaging 0.64
R3732:Robo2 UTSW 16 73,717,635 (GRCm39) missense possibly damaging 0.64
R3733:Robo2 UTSW 16 73,717,635 (GRCm39) missense possibly damaging 0.64
R3734:Robo2 UTSW 16 73,717,635 (GRCm39) missense possibly damaging 0.64
R3913:Robo2 UTSW 16 73,831,893 (GRCm39) missense probably damaging 1.00
R3956:Robo2 UTSW 16 73,758,755 (GRCm39) missense probably damaging 1.00
R4394:Robo2 UTSW 16 73,745,267 (GRCm39) missense probably benign 0.13
R4426:Robo2 UTSW 16 73,745,154 (GRCm39) missense probably damaging 1.00
R4437:Robo2 UTSW 16 73,770,132 (GRCm39) missense possibly damaging 0.88
R4454:Robo2 UTSW 16 74,149,407 (GRCm39) intron probably benign
R4478:Robo2 UTSW 16 73,812,761 (GRCm39) missense probably damaging 1.00
R4586:Robo2 UTSW 16 73,758,761 (GRCm39) missense probably damaging 0.96
R4621:Robo2 UTSW 16 73,782,821 (GRCm39) missense probably benign 0.00
R4673:Robo2 UTSW 16 73,701,266 (GRCm39) splice site probably null
R4798:Robo2 UTSW 16 74,149,633 (GRCm39) missense probably damaging 1.00
R4812:Robo2 UTSW 16 73,713,176 (GRCm39) missense probably benign 0.00
R4855:Robo2 UTSW 16 73,768,079 (GRCm39) missense probably damaging 1.00
R4910:Robo2 UTSW 16 73,730,666 (GRCm39) missense probably damaging 0.99
R4916:Robo2 UTSW 16 73,695,803 (GRCm39) missense possibly damaging 0.53
R4948:Robo2 UTSW 16 74,149,726 (GRCm39) missense possibly damaging 0.88
R5325:Robo2 UTSW 16 73,770,673 (GRCm39) missense possibly damaging 0.72
R5326:Robo2 UTSW 16 73,695,853 (GRCm39) missense probably benign 0.20
R5447:Robo2 UTSW 16 73,770,654 (GRCm39) nonsense probably null
R5542:Robo2 UTSW 16 73,695,853 (GRCm39) missense probably benign 0.20
R5545:Robo2 UTSW 16 73,758,635 (GRCm39) missense probably damaging 1.00
R5646:Robo2 UTSW 16 73,758,707 (GRCm39) missense probably damaging 0.99
R5734:Robo2 UTSW 16 74,149,672 (GRCm39) missense probably damaging 1.00
R5892:Robo2 UTSW 16 73,692,668 (GRCm39) utr 3 prime probably benign
R5960:Robo2 UTSW 16 73,730,603 (GRCm39) missense probably damaging 1.00
R6126:Robo2 UTSW 16 73,717,570 (GRCm39) missense probably benign 0.00
R6130:Robo2 UTSW 16 73,717,570 (GRCm39) missense probably benign 0.00
R6153:Robo2 UTSW 16 73,717,617 (GRCm39) missense probably damaging 1.00
R6240:Robo2 UTSW 16 73,779,027 (GRCm39) missense probably damaging 1.00
R6247:Robo2 UTSW 16 73,764,672 (GRCm39) missense probably damaging 1.00
R6304:Robo2 UTSW 16 73,755,196 (GRCm39) missense probably damaging 1.00
R6337:Robo2 UTSW 16 73,725,039 (GRCm39) missense probably benign 0.06
R6431:Robo2 UTSW 16 73,843,697 (GRCm39) nonsense probably null
R6440:Robo2 UTSW 16 73,713,010 (GRCm39) missense probably benign 0.31
R6596:Robo2 UTSW 16 73,767,996 (GRCm39) missense probably damaging 1.00
R6919:Robo2 UTSW 16 73,758,755 (GRCm39) missense probably damaging 1.00
R6927:Robo2 UTSW 16 73,778,946 (GRCm39) missense probably damaging 1.00
R7029:Robo2 UTSW 16 73,745,225 (GRCm39) missense probably damaging 1.00
R7078:Robo2 UTSW 16 74,149,504 (GRCm39) missense probably damaging 1.00
R7092:Robo2 UTSW 16 73,753,531 (GRCm39) missense probably damaging 0.99
R7136:Robo2 UTSW 16 73,753,438 (GRCm39) missense probably damaging 0.99
R7192:Robo2 UTSW 16 73,717,638 (GRCm39) missense probably benign 0.19
R7569:Robo2 UTSW 16 73,832,003 (GRCm39) missense possibly damaging 0.82
R7686:Robo2 UTSW 16 73,755,293 (GRCm39) missense probably damaging 1.00
R7720:Robo2 UTSW 16 73,693,903 (GRCm39) missense probably benign 0.00
R7772:Robo2 UTSW 16 73,758,777 (GRCm39) missense probably benign 0.24
R7822:Robo2 UTSW 16 73,770,059 (GRCm39) missense probably damaging 1.00
R7849:Robo2 UTSW 16 73,770,132 (GRCm39) missense possibly damaging 0.88
R7881:Robo2 UTSW 16 73,717,585 (GRCm39) missense probably benign 0.00
R7897:Robo2 UTSW 16 73,695,838 (GRCm39) missense probably benign
R8135:Robo2 UTSW 16 73,730,048 (GRCm39) missense probably benign 0.04
R8297:Robo2 UTSW 16 73,812,814 (GRCm39) nonsense probably null
R8307:Robo2 UTSW 16 73,753,498 (GRCm39) missense probably damaging 1.00
R8379:Robo2 UTSW 16 73,730,588 (GRCm39) missense probably damaging 0.99
R8393:Robo2 UTSW 16 73,775,382 (GRCm39) missense probably damaging 1.00
R8474:Robo2 UTSW 16 73,745,150 (GRCm39) missense probably damaging 1.00
R8500:Robo2 UTSW 16 73,745,228 (GRCm39) missense probably damaging 1.00
R8721:Robo2 UTSW 16 73,703,798 (GRCm39) missense
R8734:Robo2 UTSW 16 73,764,651 (GRCm39) splice site probably benign
R8735:Robo2 UTSW 16 73,755,247 (GRCm39) missense probably damaging 1.00
R8840:Robo2 UTSW 16 73,782,570 (GRCm39) missense probably damaging 1.00
R8937:Robo2 UTSW 16 73,770,150 (GRCm39) missense probably damaging 1.00
R8937:Robo2 UTSW 16 73,770,149 (GRCm39) missense probably damaging 1.00
R9134:Robo2 UTSW 16 73,703,738 (GRCm39) missense
R9622:Robo2 UTSW 16 73,729,952 (GRCm39) missense probably benign 0.02
R9662:Robo2 UTSW 16 73,758,566 (GRCm39) critical splice donor site probably null
R9708:Robo2 UTSW 16 73,770,197 (GRCm39) missense possibly damaging 0.70
R9779:Robo2 UTSW 16 73,767,965 (GRCm39) missense probably damaging 0.97
X0063:Robo2 UTSW 16 73,842,716 (GRCm39) missense probably damaging 1.00
Z1176:Robo2 UTSW 16 73,730,479 (GRCm39) missense probably benign 0.35
Z1177:Robo2 UTSW 16 73,737,187 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCTCAAAGCATACATCATAGCAAGG -3'
(R):5'- ACCCTTGTCATTGACACTCAAC -3'

Sequencing Primer
(F):5'- GCAAGGCAGTCTGAAAACCTTTTC -3'
(R):5'- GTCATTGACACTCAACACCATTTG -3'
Posted On 2021-10-11