Incidental Mutation 'R1919:Robo2'
ID 212890
Institutional Source Beutler Lab
Gene Symbol Robo2
Ensembl Gene ENSMUSG00000052516
Gene Name roundabout guidance receptor 2
Synonyms 2600013A04Rik, 9430089E08Rik, D230004I22Rik
MMRRC Submission 039937-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R1919 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 73688727-74208713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73696042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 1367 (G1367D)
Ref Sequence ENSEMBL: ENSMUSP00000154353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117200] [ENSMUST00000117785] [ENSMUST00000226478]
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 benign
Transcript: ENSMUST00000117785
AA Change: G1363D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: G1363D

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: ENSMUST00000137420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149114
Predicted Effect probably benign
Transcript: ENSMUST00000226478
AA Change: G1367D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000231426
AA Change: G155D
Predicted Effect unknown
Transcript: ENSMUST00000231889
AA Change: G647D
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.3%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,031 (GRCm39) E740G probably damaging Het
4930474N05Rik G T 14: 35,817,414 (GRCm39) V105F possibly damaging Het
Actr10 A G 12: 70,989,104 (GRCm39) I74M probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Afm A T 5: 90,672,779 (GRCm39) K205* probably null Het
Ankrd27 T A 7: 35,332,410 (GRCm39) S846T probably benign Het
Ano3 A G 2: 110,715,352 (GRCm39) S29P probably benign Het
Apaf1 C T 10: 90,913,476 (GRCm39) W138* probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgef4 A G 1: 34,850,221 (GRCm39) Q1798R probably damaging Het
Astn1 G A 1: 158,337,541 (GRCm39) V416I probably damaging Het
Atxn2l G A 7: 126,092,340 (GRCm39) T70I probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bltp1 A G 3: 37,061,132 (GRCm39) probably null Het
Bspry T A 4: 62,413,034 (GRCm39) C256S probably damaging Het
C3 C A 17: 57,527,135 (GRCm39) W771C probably damaging Het
Camkv A G 9: 107,824,287 (GRCm39) D233G possibly damaging Het
Catsperd T A 17: 56,942,548 (GRCm39) V109E probably damaging Het
Cd101 A G 3: 100,926,233 (GRCm39) L162P probably damaging Het
Cdr2l A G 11: 115,283,603 (GRCm39) T154A probably damaging Het
Clca3a2 G C 3: 144,516,457 (GRCm39) Q380E probably benign Het
Col6a3 T C 1: 90,750,081 (GRCm39) N251S possibly damaging Het
Cttnbp2nl A G 3: 104,918,594 (GRCm39) V82A possibly damaging Het
Cux1 G A 5: 136,392,173 (GRCm39) Q194* probably null Het
Daam2 T C 17: 49,792,485 (GRCm39) E361G probably benign Het
Dcaf17 A T 2: 70,908,516 (GRCm39) probably null Het
Dnai1 T C 4: 41,570,020 (GRCm39) probably null Het
Eml5 T C 12: 98,765,098 (GRCm39) Y1617C probably damaging Het
Epb41l4b T C 4: 57,040,993 (GRCm39) E490G probably damaging Het
Epha7 T C 4: 28,963,969 (GRCm39) M988T possibly damaging Het
Fancm T C 12: 65,152,294 (GRCm39) C917R possibly damaging Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gm3604 G T 13: 62,517,756 (GRCm39) H201N probably benign Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpatch8 A G 11: 102,398,968 (GRCm39) probably null Het
H2-M3 T C 17: 37,582,080 (GRCm39) Y179H possibly damaging Het
H2-Q10 C A 17: 35,781,385 (GRCm39) S62R probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hrg A T 16: 22,773,207 (GRCm39) Q113H probably damaging Het
Kcnj16 T C 11: 110,915,779 (GRCm39) V147A possibly damaging Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Kmt2a C T 9: 44,731,642 (GRCm39) probably benign Het
Krt90 A T 15: 101,465,665 (GRCm39) Y319N probably damaging Het
Lipo4 T C 19: 33,476,671 (GRCm39) N359S possibly damaging Het
Lrp1b G T 2: 41,618,741 (GRCm39) T225K probably benign Het
Map1a C T 2: 121,137,493 (GRCm39) P2532S probably damaging Het
Mmrn2 A G 14: 34,119,600 (GRCm39) D193G probably benign Het
Mpped2 T A 2: 106,697,377 (GRCm39) I284N probably damaging Het
Msh6 A G 17: 88,292,553 (GRCm39) H436R probably benign Het
Mterf3 A T 13: 67,078,126 (GRCm39) S48T probably damaging Het
Muc5b T C 7: 141,399,768 (GRCm39) F414L unknown Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Nherf4 T C 9: 44,161,600 (GRCm39) D93G possibly damaging Het
Nploc4 A G 11: 120,295,055 (GRCm39) Y420H probably damaging Het
Npr2 T A 4: 43,640,578 (GRCm39) Y344N probably damaging Het
Nsun5 A G 5: 135,404,452 (GRCm39) T397A probably benign Het
Ntsr2 A T 12: 16,704,111 (GRCm39) Q204L probably damaging Het
Nwd2 T A 5: 63,963,523 (GRCm39) Y1036N probably damaging Het
Oacyl T C 18: 65,843,618 (GRCm39) V105A possibly damaging Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Parp3 T A 9: 106,352,316 (GRCm39) Q70L possibly damaging Het
Parp4 T C 14: 56,861,474 (GRCm39) S936P probably damaging Het
Phkb A G 8: 86,648,790 (GRCm39) E202G probably benign Het
Pink1 T C 4: 138,041,331 (GRCm39) N530S probably benign Het
Pou3f2 T C 4: 22,487,119 (GRCm39) D338G probably damaging Het
Prss8 G T 7: 127,529,030 (GRCm39) L9I probably benign Het
Ptpn22 G A 3: 103,784,054 (GRCm39) probably null Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Rasef A G 4: 73,662,351 (GRCm39) S200P possibly damaging Het
Rb1 T A 14: 73,450,430 (GRCm39) K645* probably null Het
Rp1 A G 1: 4,422,894 (GRCm39) V52A probably damaging Het
Samd13 T C 3: 146,368,467 (GRCm39) T23A probably benign Het
Scn7a T C 2: 66,530,317 (GRCm39) H676R probably damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Slc2a8 T C 2: 32,870,091 (GRCm39) Y150C probably damaging Het
Slc7a6os C A 8: 106,937,196 (GRCm39) R88L probably damaging Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Slit2 C A 5: 48,348,358 (GRCm39) probably benign Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Sptlc3 A G 2: 139,408,595 (GRCm39) N237D possibly damaging Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Suv39h2 G A 2: 3,465,353 (GRCm39) T334I probably damaging Het
Syt5 G T 7: 4,543,278 (GRCm39) T327N probably damaging Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tnks A T 8: 35,342,386 (GRCm39) V388D probably damaging Het
Ugt2b1 T C 5: 87,073,859 (GRCm39) T167A probably benign Het
Usp40 G A 1: 87,923,564 (GRCm39) R236C possibly damaging Het
Utrn T C 10: 12,331,224 (GRCm39) D2904G probably benign Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r23 T C 6: 123,689,969 (GRCm39) S282P possibly damaging Het
Vps45 T C 3: 95,953,752 (GRCm39) E200G probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zmym6 T A 4: 126,997,207 (GRCm39) N275K probably 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
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
R8968:Robo2 UTSW 16 73,767,941 (GRCm39) critical splice donor site probably null
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'- CAACCCCTTGTTTGTGTGGG -3'
(R):5'- CCACAACCTTTTGCATGGATGG -3'

Sequencing Primer
(F):5'- GCGTTCTGTAGAGTTTATCCAGTCC -3'
(R):5'- ACAACCTTTTGCATGGATGGTATTTG -3'
Posted On 2014-07-14