Incidental Mutation 'R0233:Robo4'
ID 58904
Institutional Source Beutler Lab
Gene Symbol Robo4
Ensembl Gene ENSMUSG00000032125
Gene Name roundabout guidance receptor 4
Synonyms Magic roundabout, 1200012D01Rik
MMRRC Submission 038474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R0233 (G1)
Quality Score 212
Status Validated
Chromosome 9
Chromosomal Location 37313198-37325319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37313977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 76 (L76P)
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: L76P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099959
Gene: ENSMUSG00000032125
AA Change: L76P

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: L76P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110698
Gene: ENSMUSG00000032125
AA Change: L76P

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 probably benign
Transcript: ENSMUST00000115048
SMART Domains Protein: ENSMUSP00000110700
Gene: ENSMUSG00000032125

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 damaging
Transcript: ENSMUST00000156972
AA Change: L76P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214185
AA Change: L76P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency 99% (93/94)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,330 (GRCm39) S212P probably benign Het
A730018C14Rik A C 12: 112,381,864 (GRCm39) noncoding transcript Het
Acsf3 A G 8: 123,507,031 (GRCm39) Y108C probably damaging Het
Acsl1 A G 8: 46,966,606 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,097 (GRCm39) I389N possibly damaging Het
Ankrd27 T C 7: 35,300,985 (GRCm39) L95P probably damaging Het
Ano5 T C 7: 51,185,218 (GRCm39) F46S possibly damaging Het
Ap2a1 T C 7: 44,565,397 (GRCm39) N114S probably damaging Het
Arap1 C T 7: 101,049,448 (GRCm39) S970L possibly damaging Het
Atad3a A T 4: 155,830,524 (GRCm39) S525T probably damaging Het
B4galnt1 T C 10: 127,006,780 (GRCm39) probably benign Het
Bltp1 T A 3: 37,002,712 (GRCm39) C1552* probably null Het
Cacna2d2 A T 9: 107,391,869 (GRCm39) I463F probably damaging Het
Casp6 T A 3: 129,699,624 (GRCm39) N34K probably damaging Het
Ccdc175 A T 12: 72,152,650 (GRCm39) F752I probably benign Het
Cdhr4 A G 9: 107,874,133 (GRCm39) I76V probably benign Het
Copa T C 1: 171,915,234 (GRCm39) probably null Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Cuzd1 C A 7: 130,913,545 (GRCm39) K357N possibly damaging Het
Dnah5 T A 15: 28,333,216 (GRCm39) F2206I probably damaging Het
Dnase2b T A 3: 146,288,305 (GRCm39) K263N probably benign Het
Dync1h1 T A 12: 110,607,414 (GRCm39) D2668E probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam124b T C 1: 80,190,703 (GRCm39) S227G probably damaging Het
Fam13b T A 18: 34,581,137 (GRCm39) Y675F probably damaging Het
Fgf21 T A 7: 45,264,721 (GRCm39) M4L probably benign Het
Flg2 T A 3: 93,109,104 (GRCm39) C377* probably null Het
Foxp2 T C 6: 15,409,752 (GRCm39) S451P probably damaging Het
Gli2 A T 1: 118,763,655 (GRCm39) S1499T probably damaging Het
Gm9920 A T 15: 54,975,857 (GRCm39) probably benign Het
Gpx5 T A 13: 21,471,573 (GRCm39) D210V probably damaging Het
H2-T5 A G 17: 36,478,361 (GRCm39) Y224H probably benign Het
Hoxb5 T A 11: 96,195,853 (GRCm39) S234T probably benign Het
Irf9 C A 14: 55,843,551 (GRCm39) N140K probably benign Het
Isg20 C A 7: 78,566,334 (GRCm39) D94E probably damaging Het
Isg20 C T 7: 78,564,243 (GRCm39) T50M probably damaging Het
Izumo1 T C 7: 45,273,592 (GRCm39) L115P probably damaging Het
Kdm3b G A 18: 34,942,473 (GRCm39) E655K probably damaging Het
Kdm5b T G 1: 134,532,372 (GRCm39) probably benign Het
Kifc3 A G 8: 95,828,100 (GRCm39) probably null Het
Kpna2 T C 11: 106,883,457 (GRCm39) S111G probably benign Het
Krt73 A T 15: 101,710,451 (GRCm39) N94K probably benign Het
Lgmn G T 12: 102,366,248 (GRCm39) D247E probably damaging Het
Lilra6 C T 7: 3,917,935 (GRCm39) V70I possibly damaging Het
Lrig3 G A 10: 125,849,395 (GRCm39) probably null Het
Lrrc4 T C 6: 28,829,734 (GRCm39) H627R probably benign Het
Macf1 G A 4: 123,343,920 (GRCm39) probably benign Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nutm2 A G 13: 50,621,441 (GRCm39) D2G probably benign Het
Or10j3b A T 1: 173,043,868 (GRCm39) I217F probably benign Het
Or5h23 A T 16: 58,906,038 (GRCm39) D269E probably benign Het
Or5w8 A G 2: 87,688,096 (GRCm39) I192M probably benign Het
Parl G A 16: 20,106,657 (GRCm39) P184L probably damaging Het
Pdzd8 A T 19: 59,288,811 (GRCm39) M863K probably damaging Het
Phlda3 T C 1: 135,694,559 (GRCm39) S125P probably damaging Het
Pkd1l3 A T 8: 110,377,412 (GRCm39) R217* probably null Het
Plekhg5 T C 4: 152,196,676 (GRCm39) C695R probably damaging Het
Pramel24 A T 4: 143,452,633 (GRCm39) E21D possibly damaging Het
Prg4 T C 1: 150,329,298 (GRCm39) probably benign Het
Prkab1 A G 5: 116,159,711 (GRCm39) probably benign Het
Pyroxd1 A G 6: 142,300,356 (GRCm39) E162G possibly damaging Het
R3hcc1l G A 19: 42,571,360 (GRCm39) probably null Het
Rgs12 T A 5: 35,187,842 (GRCm39) S500T probably damaging Het
Ripor3 T C 2: 167,834,518 (GRCm39) D299G probably damaging Het
Sbno1 T C 5: 124,514,289 (GRCm39) Y1302C probably damaging Het
Sec63 A G 10: 42,699,904 (GRCm39) I655V possibly damaging Het
Serpina11 T A 12: 103,946,729 (GRCm39) M389L probably benign Het
Sfswap C A 5: 129,631,607 (GRCm39) P745Q possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slitrk3 C T 3: 72,955,910 (GRCm39) S954N probably benign Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Sos2 A T 12: 69,664,104 (GRCm39) I460N probably benign Het
Spink7 T A 18: 62,727,423 (GRCm39) I34L probably benign Het
Srbd1 A G 17: 86,365,173 (GRCm39) S628P probably damaging Het
Srm G A 4: 148,677,829 (GRCm39) G156S probably damaging Het
Sulf2 T C 2: 165,927,589 (GRCm39) probably benign Het
Tmc4 T A 7: 3,669,866 (GRCm39) Y6F probably benign Het
Tmcc2 A G 1: 132,288,389 (GRCm39) F433L probably damaging Het
Tmprss13 T G 9: 45,248,398 (GRCm39) probably benign Het
Tnxb T C 17: 34,918,007 (GRCm39) F2307L probably benign Het
Tsr3 A G 17: 25,461,484 (GRCm39) E274G probably benign Het
Ttn T C 2: 76,725,488 (GRCm39) probably benign Het
Tub T C 7: 108,628,548 (GRCm39) V352A possibly damaging Het
Tubb2a A G 13: 34,259,325 (GRCm39) I155T possibly damaging Het
Ugt2a2 T C 5: 87,622,860 (GRCm39) N36S probably damaging Het
Usp13 T A 3: 32,969,813 (GRCm39) probably null Het
Vmn1r52 T G 6: 90,156,593 (GRCm39) L120R possibly damaging Het
Vmn2r11 A T 5: 109,201,968 (GRCm39) S179T probably benign Het
Vwf A T 6: 125,663,473 (GRCm39) R2805W possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp286 T C 11: 62,671,219 (GRCm39) T285A possibly 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
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
R8081:Robo4 UTSW 9 37,316,936 (GRCm39) missense probably damaging 0.99
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'- TGCAGTACAGGAGTCTCTCTTTCCC -3'
(R):5'- TCGTATTTCCCTGGACACAAGCATC -3'

Sequencing Primer
(F):5'- ACAGGAGTCTCTCTTTCCCTCTTAG -3'
(R):5'- AAGCATCTCAGCCTAACTCTG -3'
Posted On 2013-07-11