Incidental Mutation 'R8836:Robo4'
ID 674168
Institutional Source Beutler Lab
Gene Symbol Robo4
Ensembl Gene ENSMUSG00000032125
Gene Name roundabout guidance receptor 4
Synonyms Magic roundabout, 1200012D01Rik
MMRRC Submission 068664-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R8836 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 37313198-37325319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37317130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 482 (S482A)
Ref Sequence ENSEMBL: ENSMUSP00000110698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102895] [ENSMUST00000115046] [ENSMUST00000115048] [ENSMUST00000156972] [ENSMUST00000214185]
AlphaFold Q8C310
Predicted Effect probably benign
Transcript: ENSMUST00000102895
SMART Domains Protein: ENSMUSP00000099959
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 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 unknown
Transcript: ENSMUST00000115046
AA Change: S482A
SMART Domains Protein: ENSMUSP00000110698
Gene: ENSMUSG00000032125
AA Change: S482A

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 benign
Transcript: ENSMUST00000156972
Predicted Effect probably benign
Transcript: ENSMUST00000214185
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4m1 T A 5: 138,173,061 (GRCm39) I134N probably damaging Het
Cacna1b A G 2: 24,542,982 (GRCm39) V1294A possibly damaging Het
Carmil1 A T 13: 24,339,029 (GRCm39) S160T probably damaging Het
Ccdc7b C A 8: 129,857,512 (GRCm39) probably benign Het
Chd9 T G 8: 91,767,812 (GRCm39) N2436K probably damaging Het
Cradd G A 10: 95,158,462 (GRCm39) A95V probably benign Het
Cttnbp2 T G 6: 18,375,952 (GRCm39) E1529A probably damaging Het
Cyp11b1 T C 15: 74,710,387 (GRCm39) I305V possibly damaging Het
Cyp2j6 A T 4: 96,411,983 (GRCm39) N428K probably damaging Het
Cyp3a44 A T 5: 145,731,728 (GRCm39) S139R probably damaging Het
Dysf C T 6: 84,093,105 (GRCm39) R1073C probably damaging Het
Ei24 A G 9: 36,701,498 (GRCm39) F23S Het
Enam T C 5: 88,639,124 (GRCm39) probably null Het
Ezh2 A T 6: 47,531,196 (GRCm39) C163S probably benign Het
Fam76b T A 9: 13,755,381 (GRCm39) F329L probably benign Het
Gatad2b G A 3: 90,263,507 (GRCm39) A535T probably damaging Het
Gm5622 T A 14: 51,796,770 (GRCm39) probably benign Het
Gm9195 C A 14: 72,695,830 (GRCm39) A1401S probably benign Het
Greb1l A T 18: 10,509,257 (GRCm39) H523L probably benign Het
Grhl3 T A 4: 135,288,640 (GRCm39) N15I probably damaging Het
Gsta3 A T 1: 21,330,283 (GRCm39) Y95F probably benign Het
Htr1f C A 16: 64,747,196 (GRCm39) G32V probably benign Het
Il18r1 C A 1: 40,535,016 (GRCm39) Q404K probably benign Het
Izumo3 A T 4: 92,033,216 (GRCm39) probably null Het
Kctd19 T A 8: 106,112,028 (GRCm39) I806F probably damaging Het
Lama4 G T 10: 38,902,587 (GRCm39) C187F probably damaging Het
Lamp3 T G 16: 19,519,788 (GRCm39) I132L probably benign Het
Ly9 A T 1: 171,432,559 (GRCm39) Y151* probably null Het
Lztr1 T C 16: 17,343,402 (GRCm39) L474P probably benign Het
Mcm9 A T 10: 53,502,130 (GRCm39) Y79N Het
Mocs2 T A 13: 114,961,760 (GRCm39) N80K possibly damaging Het
Mrgbp T A 2: 180,224,712 (GRCm39) C38S probably benign Het
Ncs1 G T 2: 31,136,159 (GRCm39) probably benign Het
Or51a10 G A 7: 103,699,055 (GRCm39) P169S probably benign Het
Or8k17 T C 2: 86,066,888 (GRCm39) N90S probably benign Het
Pakap A G 4: 57,709,916 (GRCm39) D287G probably benign Het
Pax5 A T 4: 44,645,621 (GRCm39) V236E probably benign Het
Pcdhgb5 A G 18: 37,865,260 (GRCm39) I352V probably benign Het
Pik3r5 A G 11: 68,385,104 (GRCm39) T670A probably benign Het
Plxna2 T A 1: 194,479,243 (GRCm39) N1301K possibly damaging Het
Pou2af3 A G 9: 51,182,104 (GRCm39) L156P probably damaging Het
Pou5f2 G A 13: 78,173,886 (GRCm39) G276D probably damaging Het
Ppl C G 16: 4,906,854 (GRCm39) R1147P probably damaging Het
Pramel17 T C 4: 101,693,022 (GRCm39) K326R probably benign Het
Prkdc C A 16: 15,545,523 (GRCm39) R1880S probably damaging Het
Rbfox1 T A 16: 7,227,605 (GRCm39) D373E probably benign Het
Rbm24 A G 13: 46,582,780 (GRCm39) D233G probably damaging Het
Rbp3 A T 14: 33,680,588 (GRCm39) E1063D possibly damaging Het
Rc3h2 A G 2: 37,267,941 (GRCm39) V939A possibly damaging Het
Relb C A 7: 19,345,799 (GRCm39) V385L possibly damaging Het
Ryr1 A C 7: 28,774,091 (GRCm39) L2426R probably damaging Het
Sass6 A T 3: 116,407,598 (GRCm39) E238V possibly damaging Het
Ski T C 4: 155,245,047 (GRCm39) I400V probably benign Het
Slc27a2 C A 2: 126,416,656 (GRCm39) A336D Het
Slc30a3 T C 5: 31,250,668 (GRCm39) T12A possibly damaging Het
Slc6a6 T C 6: 91,725,444 (GRCm39) V447A probably damaging Het
Smad1 T A 8: 80,098,554 (GRCm39) I87F probably damaging Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Sytl3 C A 17: 6,973,410 (GRCm39) T237N possibly damaging Het
Tdrd7 A G 4: 45,987,570 (GRCm39) T68A probably damaging Het
Tex56 T A 13: 35,116,526 (GRCm39) W92R probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem238 A G 7: 4,792,520 (GRCm39) C8R possibly damaging Het
Ubxn2b A T 4: 6,216,061 (GRCm39) Q328L probably damaging Het
Vmn1r226 A G 17: 20,908,133 (GRCm39) T122A probably benign Het
Vps13d A G 4: 144,882,648 (GRCm39) F982L Het
Xpo4 T C 14: 57,902,367 (GRCm39) E16G probably benign Het
Zbtb17 T A 4: 141,189,233 (GRCm39) M51K possibly damaging Het
Zdhhc1 A G 8: 106,200,173 (GRCm39) F315S probably benign Het
Zfp568 C T 7: 29,722,459 (GRCm39) T468M 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
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
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'- AGGCTCCTATTGTGTGCAAGTG -3'
(R):5'- CTTTGCGTCGTCTGTAGATACAC -3'

Sequencing Primer
(F):5'- TGCAAGTGGCTGCAGTC -3'
(R):5'- CGTCTGTAGATACACACAGTAATGC -3'
Posted On 2021-07-15