Incidental Mutation 'R8081:Robo4'
ID 629352
Institutional Source Beutler Lab
Gene Symbol Robo4
Ensembl Gene ENSMUSG00000032125
Gene Name roundabout guidance receptor 4
Synonyms Magic roundabout, 1200012D01Rik
MMRRC Submission 067514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R8081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 37313198-37325319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37316936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 417 (L417P)
Ref Sequence ENSEMBL: ENSMUSP00000150722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102895] [ENSMUST00000115046] [ENSMUST00000115048] [ENSMUST00000156972] [ENSMUST00000214185]
AlphaFold Q8C310
Predicted Effect probably damaging
Transcript: ENSMUST00000102895
AA Change: L417P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099959
Gene: ENSMUSG00000032125
AA Change: L417P

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 48 144 2.51e0 SMART
IGc2 160 225 6.86e-11 SMART
FN3 263 343 2.05e0 SMART
FN3 358 440 1.27e-3 SMART
low complexity region 488 494 N/A INTRINSIC
low complexity region 544 562 N/A INTRINSIC
low complexity region 720 733 N/A INTRINSIC
low complexity region 748 762 N/A INTRINSIC
low complexity region 775 799 N/A INTRINSIC
low complexity region 855 866 N/A INTRINSIC
low complexity region 871 880 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115046
AA Change: L417P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110698
Gene: ENSMUSG00000032125
AA Change: L417P

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 48 144 2.51e0 SMART
IGc2 160 225 6.86e-11 SMART
FN3 263 343 2.05e0 SMART
FN3 358 440 1.27e-3 SMART
low complexity region 484 500 N/A INTRINSIC
low complexity region 540 546 N/A INTRINSIC
low complexity region 596 614 N/A INTRINSIC
low complexity region 747 756 N/A INTRINSIC
low complexity region 779 792 N/A INTRINSIC
low complexity region 807 821 N/A INTRINSIC
low complexity region 834 858 N/A INTRINSIC
low complexity region 914 925 N/A INTRINSIC
low complexity region 930 939 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000110700
Gene: ENSMUSG00000032125
AA Change: L306P

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 48 144 2.51e0 SMART
IGc2 160 225 6.86e-11 SMART
FN3 263 343 2.05e0 SMART
FN3 358 440 1.27e-3 SMART
low complexity region 488 494 N/A INTRINSIC
low complexity region 544 562 N/A INTRINSIC
low complexity region 695 704 N/A INTRINSIC
low complexity region 727 740 N/A INTRINSIC
low complexity region 755 769 N/A INTRINSIC
low complexity region 782 806 N/A INTRINSIC
low complexity region 862 873 N/A INTRINSIC
low complexity region 878 887 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156972
Predicted Effect probably damaging
Transcript: ENSMUST00000214185
AA Change: L417P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,313 (GRCm39) E119V probably damaging Het
Adamts2 A T 11: 50,668,004 (GRCm39) D522V probably damaging Het
Agtpbp1 A T 13: 59,676,221 (GRCm39) L183* probably null Het
Arhgap10 T C 8: 78,109,375 (GRCm39) I403V possibly damaging Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Cdhr1 C T 14: 36,815,967 (GRCm39) V144I probably benign Het
Cdk20 A G 13: 64,586,766 (GRCm39) I339V probably benign Het
Ceacam13 A G 7: 17,747,113 (GRCm39) K189E probably damaging Het
Cep290 C T 10: 100,394,038 (GRCm39) Q2082* probably null Het
Cgrrf1 A G 14: 47,091,468 (GRCm39) T331A probably benign Het
Cntn4 G A 6: 106,651,568 (GRCm39) V706I possibly damaging Het
Csrnp2 T C 15: 100,387,462 (GRCm39) D2G probably damaging Het
Cux2 A G 5: 122,007,519 (GRCm39) I714T probably benign Het
Cx3cr1 C T 9: 119,880,878 (GRCm39) E175K possibly damaging Het
Dennd1c G A 17: 57,381,139 (GRCm39) P163L possibly damaging Het
Dhtkd1 C T 2: 5,928,919 (GRCm39) E251K probably damaging Het
Epas1 C T 17: 87,136,797 (GRCm39) P787S probably benign Het
Epha2 T C 4: 141,049,605 (GRCm39) V737A probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcsk T A 8: 111,615,783 (GRCm39) R515S probably benign Het
Fscb A T 12: 64,518,802 (GRCm39) M888K unknown Het
Gldc ACGACC AC 19: 30,135,987 (GRCm39) probably null Het
Gm14443 A T 2: 175,012,238 (GRCm39) C69* probably null Het
Gm19668 G A 10: 77,634,420 (GRCm39) A183V unknown Het
Gm49368 A G 7: 127,726,280 (GRCm39) R1231G unknown Het
Grin2c T C 11: 115,140,719 (GRCm39) Y1133C probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hydin T C 8: 111,092,101 (GRCm39) S425P possibly damaging Het
Ifnl3 T C 7: 28,223,682 (GRCm39) S173P probably damaging Het
Igkv4-63 A T 6: 69,355,018 (GRCm39) S88T possibly damaging Het
Klhl5 C A 5: 65,320,268 (GRCm39) N607K possibly damaging Het
Lag3 A T 6: 124,882,410 (GRCm39) L362* probably null Het
Lats2 C A 14: 57,937,968 (GRCm39) G174C probably damaging Het
Mcm6 T C 1: 128,265,905 (GRCm39) E622G probably damaging Het
Med13l C A 5: 118,866,333 (GRCm39) H462Q probably damaging Het
Mrpl53 T A 6: 83,086,159 (GRCm39) F23I probably damaging Het
Muc5b T G 7: 141,417,743 (GRCm39) I3563S possibly damaging Het
Myo16 A C 8: 10,372,743 (GRCm39) L147F unknown Het
Npc1l1 G C 11: 6,167,768 (GRCm39) Q1008E probably benign Het
Npy4r A G 14: 33,868,524 (GRCm39) S255P probably damaging Het
Nup210 T C 6: 91,053,657 (GRCm39) N287D probably benign Het
Opn3 T A 1: 175,493,135 (GRCm39) H143L probably damaging Het
Or12e7 G T 2: 87,287,513 (GRCm39) M1I probably null Het
Or12j3 A T 7: 139,952,972 (GRCm39) L184M probably damaging Het
Or12j5 A T 7: 140,084,369 (GRCm39) M1K probably null Het
Or4k2 T A 14: 50,423,825 (GRCm39) N284I probably damaging Het
Or5ap2b-ps1 C T 2: 85,693,839 (GRCm39) P28L probably damaging Het
Pdcd7 C T 9: 65,253,967 (GRCm39) R182C probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Picalm T A 7: 89,840,451 (GRCm39) L540* probably null Het
Ppp1r21 T A 17: 88,866,272 (GRCm39) I356N probably damaging Het
Rgs6 C T 12: 83,094,347 (GRCm39) Q67* probably null Het
Ripor2 C A 13: 24,897,683 (GRCm39) Q794K probably benign Het
Rnf216 A T 5: 143,013,719 (GRCm39) I702N probably damaging Het
Samhd1 A T 2: 156,943,358 (GRCm39) C605* probably null Het
Scaper C T 9: 55,823,330 (GRCm39) G22D unknown Het
Senp5 T C 16: 31,784,577 (GRCm39) T692A probably damaging Het
Six6 G T 12: 72,986,875 (GRCm39) G16W probably damaging Het
Slc38a8 A T 8: 120,212,269 (GRCm39) M358K possibly damaging Het
Snx2 T C 18: 53,349,459 (GRCm39) F407L probably benign Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
Syk A T 13: 52,792,195 (GRCm39) M429L probably benign Het
Tln2 T A 9: 67,264,029 (GRCm39) N537Y probably damaging Het
Usp29 T A 7: 6,966,629 (GRCm39) M824K probably benign Het
Utrn A G 10: 12,423,803 (GRCm39) probably benign Het
Wdr37 C T 13: 8,885,406 (GRCm39) D346N probably damaging Het
Zfpm2 T A 15: 40,965,644 (GRCm39) C710S probably damaging Het
Other mutations in Robo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Robo4 APN 9 37,322,400 (GRCm39) missense probably damaging 1.00
IGL00392:Robo4 APN 9 37,319,525 (GRCm39) missense probably damaging 1.00
IGL00491:Robo4 APN 9 37,317,231 (GRCm39) missense possibly damaging 0.52
IGL00792:Robo4 APN 9 37,319,507 (GRCm39) missense probably damaging 1.00
IGL01062:Robo4 APN 9 37,317,296 (GRCm39) missense probably benign 0.08
IGL01287:Robo4 APN 9 37,324,336 (GRCm39) missense possibly damaging 0.96
IGL02289:Robo4 APN 9 37,319,496 (GRCm39) missense probably damaging 1.00
IGL02486:Robo4 APN 9 37,319,670 (GRCm39) missense probably damaging 1.00
IGL02851:Robo4 APN 9 37,324,678 (GRCm39) missense probably damaging 0.96
IGL02898:Robo4 APN 9 37,319,472 (GRCm39) missense probably damaging 0.99
IGL02965:Robo4 APN 9 37,321,765 (GRCm39) missense possibly damaging 0.82
IGL03071:Robo4 APN 9 37,315,580 (GRCm39) splice site probably benign
IGL03102:Robo4 APN 9 37,315,481 (GRCm39) missense probably damaging 1.00
H8562:Robo4 UTSW 9 37,317,106 (GRCm39) intron probably benign
PIT4305001:Robo4 UTSW 9 37,322,687 (GRCm39) missense probably damaging 1.00
R0056:Robo4 UTSW 9 37,315,773 (GRCm39) missense probably benign 0.03
R0068:Robo4 UTSW 9 37,315,773 (GRCm39) missense probably benign 0.03
R0233:Robo4 UTSW 9 37,313,977 (GRCm39) missense probably damaging 1.00
R0233:Robo4 UTSW 9 37,313,977 (GRCm39) missense probably damaging 1.00
R0416:Robo4 UTSW 9 37,316,062 (GRCm39) splice site probably benign
R1005:Robo4 UTSW 9 37,319,547 (GRCm39) missense probably damaging 1.00
R1174:Robo4 UTSW 9 37,324,348 (GRCm39) missense probably damaging 1.00
R1183:Robo4 UTSW 9 37,319,348 (GRCm39) missense probably damaging 1.00
R1254:Robo4 UTSW 9 37,322,136 (GRCm39) critical splice donor site probably null
R1398:Robo4 UTSW 9 37,319,372 (GRCm39) critical splice donor site probably null
R1505:Robo4 UTSW 9 37,314,523 (GRCm39) missense probably damaging 0.98
R1701:Robo4 UTSW 9 37,314,739 (GRCm39) missense probably benign 0.44
R1834:Robo4 UTSW 9 37,324,355 (GRCm39) missense probably benign 0.09
R1899:Robo4 UTSW 9 37,315,366 (GRCm39) splice site probably benign
R2203:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2204:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2351:Robo4 UTSW 9 37,322,956 (GRCm39) missense probably benign 0.01
R2448:Robo4 UTSW 9 37,313,958 (GRCm39) missense possibly damaging 0.96
R2847:Robo4 UTSW 9 37,315,772 (GRCm39) nonsense probably null
R2851:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2852:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2877:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3123:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3124:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3125:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3805:Robo4 UTSW 9 37,315,734 (GRCm39) missense possibly damaging 0.73
R3806:Robo4 UTSW 9 37,315,734 (GRCm39) missense possibly damaging 0.73
R3892:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3905:Robo4 UTSW 9 37,314,801 (GRCm39) nonsense probably null
R3938:Robo4 UTSW 9 37,313,313 (GRCm39) start gained probably benign
R4261:Robo4 UTSW 9 37,316,877 (GRCm39) missense probably benign 0.04
R4434:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4435:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4561:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4562:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4568:Robo4 UTSW 9 37,316,118 (GRCm39) missense possibly damaging 0.59
R4695:Robo4 UTSW 9 37,314,495 (GRCm39) missense probably damaging 1.00
R4921:Robo4 UTSW 9 37,313,856 (GRCm39) missense probably benign
R5000:Robo4 UTSW 9 37,319,664 (GRCm39) missense probably benign 0.02
R5056:Robo4 UTSW 9 37,316,102 (GRCm39) missense probably benign 0.00
R5125:Robo4 UTSW 9 37,319,256 (GRCm39) missense probably damaging 1.00
R5178:Robo4 UTSW 9 37,319,256 (GRCm39) missense probably damaging 1.00
R5278:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5279:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5285:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5347:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5348:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5361:Robo4 UTSW 9 37,324,674 (GRCm39) missense probably benign 0.01
R5403:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5404:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5488:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5489:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5490:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5494:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5629:Robo4 UTSW 9 37,319,658 (GRCm39) missense probably damaging 1.00
R5736:Robo4 UTSW 9 37,316,093 (GRCm39) missense possibly damaging 0.63
R5796:Robo4 UTSW 9 37,322,970 (GRCm39) missense probably benign 0.00
R5987:Robo4 UTSW 9 37,322,696 (GRCm39) missense probably damaging 1.00
R6178:Robo4 UTSW 9 37,316,926 (GRCm39) nonsense probably null
R6189:Robo4 UTSW 9 37,314,829 (GRCm39) missense probably benign 0.35
R6365:Robo4 UTSW 9 37,322,008 (GRCm39) missense probably benign 0.34
R6528:Robo4 UTSW 9 37,315,664 (GRCm39) missense possibly damaging 0.92
R6887:Robo4 UTSW 9 37,313,363 (GRCm39) missense possibly damaging 0.82
R7196:Robo4 UTSW 9 37,314,001 (GRCm39) missense possibly damaging 0.92
R7408:Robo4 UTSW 9 37,322,277 (GRCm39) missense probably benign 0.09
R7419:Robo4 UTSW 9 37,314,105 (GRCm39) missense probably benign 0.18
R7486:Robo4 UTSW 9 37,316,870 (GRCm39) missense probably damaging 0.99
R7707:Robo4 UTSW 9 37,324,418 (GRCm39) missense probably damaging 1.00
R7839:Robo4 UTSW 9 37,322,055 (GRCm39) missense probably damaging 1.00
R8079:Robo4 UTSW 9 37,313,931 (GRCm39) missense possibly damaging 0.82
R8280:Robo4 UTSW 9 37,315,372 (GRCm39) missense probably benign 0.00
R8526:Robo4 UTSW 9 37,314,801 (GRCm39) nonsense probably null
R8547:Robo4 UTSW 9 37,315,674 (GRCm39) missense possibly damaging 0.69
R8735:Robo4 UTSW 9 37,319,577 (GRCm39) missense possibly damaging 0.92
R8836:Robo4 UTSW 9 37,317,130 (GRCm39) missense unknown
R8889:Robo4 UTSW 9 37,314,601 (GRCm39) missense probably benign 0.00
R9018:Robo4 UTSW 9 37,315,520 (GRCm39) missense probably benign 0.00
R9182:Robo4 UTSW 9 37,313,206 (GRCm39) start gained probably benign
R9375:Robo4 UTSW 9 37,316,158 (GRCm39) missense probably damaging 1.00
R9621:Robo4 UTSW 9 37,317,509 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGAAGATAGCACCCTTAGG -3'
(R):5'- CTCGTGCTGATTGCTCCATG -3'

Sequencing Primer
(F):5'- TTAGGAAGACCACATGCCCAGTTG -3'
(R):5'- GCTGATTGCTCCATGGCCTG -3'
Posted On 2020-06-30