Incidental Mutation 'R8735:Robo2'
ID 663008
Institutional Source Beutler Lab
Gene Symbol Robo2
Ensembl Gene ENSMUSG00000052516
Gene Name roundabout guidance receptor 2
Synonyms 2600013A04Rik, 9430089E08Rik, D230004I22Rik
MMRRC Submission 068583-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R8735 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 73688727-74208713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73755247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 758 (V758D)
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 damaging
Transcript: ENSMUST00000117200
AA Change: V758D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516
AA Change: V758D

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 damaging
Transcript: ENSMUST00000117785
AA Change: V758D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: V758D

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 possibly damaging
Transcript: ENSMUST00000226478
AA Change: V762D

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000227347
AA Change: V762D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (76/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 155,845,731 (GRCm39) F9S unknown Het
Abhd10 A G 16: 45,557,997 (GRCm39) F101L probably damaging Het
Acp2 A G 2: 91,034,651 (GRCm39) T93A probably benign Het
Adamts9 C T 6: 92,837,048 (GRCm39) probably benign Het
Aknad1 T A 3: 108,682,615 (GRCm39) probably benign Het
Ank3 A T 10: 69,822,785 (GRCm39) T485S probably benign Het
Caly G A 7: 139,652,503 (GRCm39) R82C probably damaging Het
Cfhr2 A G 1: 139,786,343 (GRCm39) L8P probably damaging Het
Cpeb2 T A 5: 43,438,775 (GRCm39) L869* probably null Het
Cxxc1 A G 18: 74,350,331 (GRCm39) K33E possibly damaging Het
Cyp17a1 T C 19: 46,659,533 (GRCm39) probably null Het
Cyp4a30b G A 4: 115,309,976 (GRCm39) W59* probably null Het
Dennd4b T C 3: 90,185,172 (GRCm39) V1204A probably damaging Het
Dpyd T A 3: 118,935,565 (GRCm39) D663E possibly damaging Het
Esrrg A T 1: 187,933,205 (GRCm39) probably benign Het
Exoc2 A C 13: 31,090,822 (GRCm39) L261V probably damaging Het
Exosc9 T C 3: 36,609,662 (GRCm39) L185S probably damaging Het
Gcnt3 T C 9: 69,941,728 (GRCm39) K280R probably benign Het
Ighv1-64 A T 12: 115,471,217 (GRCm39) M100K probably benign Het
Impdh2 G A 9: 108,441,978 (GRCm39) probably null Het
Itsn2 T A 12: 4,721,474 (GRCm39) I1068K probably damaging Het
Kif5c T C 2: 49,584,783 (GRCm39) C169R probably damaging Het
Kndc1 A G 7: 139,490,130 (GRCm39) S211G probably benign Het
Lama2 T A 10: 27,066,530 (GRCm39) E1117V probably damaging Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lsg1 T A 16: 30,399,865 (GRCm39) probably null Het
Mab21l4 C T 1: 93,082,208 (GRCm39) probably null Het
Msh3 A G 13: 92,411,374 (GRCm39) S608P possibly damaging Het
Mslnl T A 17: 25,964,062 (GRCm39) F464I probably benign Het
Mycbp2 T A 14: 103,460,586 (GRCm39) K1493N probably damaging Het
Myo15a A T 11: 60,401,679 (GRCm39) probably null Het
Myo1b A T 1: 51,794,896 (GRCm39) F1065I probably benign Het
Nf1 A G 11: 79,345,136 (GRCm39) probably benign Het
Nup153 C A 13: 46,881,027 (GRCm39) probably benign Het
Or4f4-ps1 T A 2: 111,330,497 (GRCm39) I300K probably damaging Het
Or5b97 A G 19: 12,878,274 (GRCm39) V290A possibly damaging Het
Osbpl7 A G 11: 96,943,194 (GRCm39) T149A probably benign Het
Parp1 A G 1: 180,396,690 (GRCm39) D31G probably benign Het
Pcdha6 T A 18: 37,101,203 (GRCm39) V132E possibly damaging Het
Pcdhb8 T A 18: 37,489,975 (GRCm39) L551Q possibly damaging Het
Pcsk9 T A 4: 106,311,808 (GRCm39) T190S probably damaging Het
Pdgfrb A T 18: 61,197,049 (GRCm39) T162S probably benign Het
Pi4ka C T 16: 17,136,234 (GRCm39) R908Q Het
Pnpla8 A G 12: 44,330,222 (GRCm39) E258G probably benign Het
Prrc2c A T 1: 162,537,127 (GRCm39) S643T unknown Het
Rnf20 T G 4: 49,655,964 (GRCm39) I970S possibly damaging Het
Robo4 G A 9: 37,319,577 (GRCm39) S609N possibly damaging Het
Rrbp1 G A 2: 143,830,920 (GRCm39) Q416* probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Ryr2 C A 13: 11,701,833 (GRCm39) E2941D probably damaging Het
Scd2 G T 19: 44,289,743 (GRCm39) C246F probably benign Het
Sh3rf1 G A 8: 61,825,687 (GRCm39) V561I probably benign Het
Slc4a4 T A 5: 89,280,301 (GRCm39) D366E probably damaging Het
Slfn14 T G 11: 83,174,715 (GRCm39) Q92P probably damaging Het
Slfn4 A T 11: 83,077,770 (GRCm39) Y186F probably damaging Het
Smpd4 T C 16: 17,453,410 (GRCm39) L309P possibly damaging Het
Smyd3 G T 1: 178,920,482 (GRCm39) N217K probably benign Het
Spen T C 4: 141,197,129 (GRCm39) T3547A probably benign Het
Suclg1 A T 6: 73,253,729 (GRCm39) I126F unknown Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tmprss15 A T 16: 78,798,702 (GRCm39) I660N possibly damaging Het
Trf A T 9: 103,087,723 (GRCm39) V677D probably damaging Het
Trim36 T C 18: 46,302,452 (GRCm39) N532S probably benign Het
Trim37 T C 11: 87,037,885 (GRCm39) probably null Het
Ttn T C 2: 76,570,454 (GRCm39) N26813S probably benign Het
Vmn1r199 T A 13: 22,567,537 (GRCm39) V277D probably damaging Het
Wdfy3 T C 5: 102,077,951 (GRCm39) D873G probably benign Het
Wdr27 T C 17: 15,103,929 (GRCm39) T726A probably damaging Het
Wdr97 T C 15: 76,240,775 (GRCm39) Y488H Het
Wdtc1 A T 4: 133,031,511 (GRCm39) C236* probably null Het
Wnk4 A C 11: 101,167,092 (GRCm39) S1083R unknown Het
Wwc1 A T 11: 35,774,234 (GRCm39) I342N probably damaging Het
Zbtb40 A G 4: 136,725,957 (GRCm39) L534P probably damaging Het
Zfp62 T C 11: 49,108,227 (GRCm39) C773R probably damaging Het
Zfp709 T A 8: 72,643,027 (GRCm39) I152N probably benign Het
Zfp738 T C 13: 67,819,550 (GRCm39) Y147C probably damaging Het
Zscan18 A C 7: 12,503,625 (GRCm39) S645A probably benign Het
Zw10 A G 9: 48,988,861 (GRCm39) Y709C 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
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
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'- TGTGTACCAATGGCCCTAAGATC -3'
(R):5'- ATGCTGGACAACTGGAAGGC -3'

Sequencing Primer
(F):5'- TTACACTGGGGCATTGACC -3'
(R):5'- GGCAGAACCTTAAAAGTCTTGTC -3'
Posted On 2021-03-08