Incidental Mutation 'IGL00944:Robo2'
ID 29164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Robo2
Ensembl Gene ENSMUSG00000052516
Gene Name roundabout guidance receptor 2
Synonyms 2600013A04Rik, 9430089E08Rik, D230004I22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL00944
Quality Score
Status
Chromosome 16
Chromosomal Location 73688727-74208713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73730585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1009 (H1009L)
Ref Sequence ENSEMBL: ENSMUSP00000112776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117200] [ENSMUST00000117785] [ENSMUST00000138852] [ENSMUST00000226478] [ENSMUST00000227347]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000116586
AA Change: H31L
SMART Domains Protein: ENSMUSP00000112285
Gene: ENSMUSG00000052516
AA Change: H31L

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 330 402 1.3e-11 SMART
IGc2 434 499 3.73e-12 SMART
FN3 526 608 1.42e-15 SMART
FN3 640 725 3.54e-2 SMART
FN3 740 827 6.15e-11 SMART
transmembrane domain 864 886 N/A INTRINSIC
low complexity region 1044 1069 N/A INTRINSIC
low complexity region 1076 1087 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117200
AA Change: H1009L

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516
AA Change: H1009L

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 possibly damaging
Transcript: ENSMUST00000117785
AA Change: H1009L

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: H1009L

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: ENSMUST00000138852
Predicted Effect probably benign
Transcript: ENSMUST00000226478
AA Change: H1013L

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000227347
AA Change: H1013L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect unknown
Transcript: ENSMUST00000231889
AA Change: H335L
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,092,988 (GRCm39) N441S probably damaging Het
Bod1l A G 5: 41,974,166 (GRCm39) C2383R probably benign Het
Dapk3 G T 10: 81,019,910 (GRCm39) probably null Het
Dock6 T C 9: 21,757,930 (GRCm39) D58G possibly damaging Het
Etl4 G A 2: 20,534,865 (GRCm39) V107I possibly damaging Het
Fam163b A G 2: 27,003,597 (GRCm39) L19P probably damaging Het
Fbxl20 A C 11: 98,004,068 (GRCm39) F73L probably damaging Het
Foxj2 T C 6: 122,816,594 (GRCm39) L492P probably damaging Het
Hfm1 A T 5: 107,049,996 (GRCm39) V391E possibly damaging Het
Ift74 T C 4: 94,581,259 (GRCm39) Y586H probably damaging Het
Klhl12 A G 1: 134,411,491 (GRCm39) N280S probably benign Het
Lctl T A 9: 64,040,411 (GRCm39) Y292* probably null Het
Ltb C A 17: 35,413,642 (GRCm39) Q49K possibly damaging Het
Mapk1 T A 16: 16,853,322 (GRCm39) D289E probably benign Het
Mideas A G 12: 84,207,322 (GRCm39) probably benign Het
Mroh2b C T 15: 4,980,609 (GRCm39) probably benign Het
Myot T C 18: 44,470,181 (GRCm39) S53P possibly damaging Het
Opn5 G A 17: 42,922,119 (GRCm39) L28F probably damaging Het
Or5b97 A T 19: 12,878,719 (GRCm39) Y142N probably benign Het
Or8k39 A G 2: 86,563,905 (GRCm39) I17T possibly damaging Het
Pals2 T C 6: 50,140,436 (GRCm39) V152A possibly damaging Het
Pld1 T A 3: 28,099,247 (GRCm39) probably null Het
Rc3h2 A G 2: 37,288,250 (GRCm39) probably benign Het
Setd7 T A 3: 51,440,459 (GRCm39) D194V probably damaging Het
Sh3bp1 A T 15: 78,789,314 (GRCm39) D288V possibly damaging Het
Smpd4 T C 16: 17,460,621 (GRCm39) I809T probably benign Het
Spata6 C T 4: 111,663,125 (GRCm39) probably benign Het
Trnau1ap C A 4: 132,055,817 (GRCm39) V30L possibly damaging Het
Trpm4 T C 7: 44,967,773 (GRCm39) H386R probably benign Het
Ttc3 T G 16: 94,227,620 (GRCm39) probably null Het
Ufd1 T C 16: 18,643,781 (GRCm39) V180A possibly damaging Het
Vmn2r102 A G 17: 19,899,154 (GRCm39) I499V probably damaging Het
Zfp112 C A 7: 23,825,021 (GRCm39) Q330K probably benign Het
Zfp668 G A 7: 127,467,079 (GRCm39) R166W 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
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
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
Posted On 2013-04-17