Incidental Mutation 'IGL03102:Robo4'
ID418784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Robo4
Ensembl Gene ENSMUSG00000032125
Gene Nameroundabout guidance receptor 4
Synonyms1200012D01Rik, Magic roundabout
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL03102
Quality Score
Status
Chromosome9
Chromosomal Location37401897-37415115 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37404185 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 275 (V275E)
Ref Sequence ENSEMBL: ENSMUSP00000150053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102895] [ENSMUST00000115046] [ENSMUST00000115048] [ENSMUST00000156972] [ENSMUST00000214185]
Predicted Effect probably damaging
Transcript: ENSMUST00000102895
AA Change: V275E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099959
Gene: ENSMUSG00000032125
AA Change: V275E

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: V275E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110698
Gene: ENSMUSG00000032125
AA Change: V275E

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 damaging
Transcript: ENSMUST00000115048
AA Change: V164E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110700
Gene: ENSMUSG00000032125
AA Change: V164E

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: V275E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214185
AA Change: V275E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik T C 7: 127,384,779 T384A probably benign Het
Alpk3 T C 7: 81,095,056 probably null Het
Alyref G A 11: 120,597,765 P79L possibly damaging Het
Arhgap28 T C 17: 67,896,236 D74G probably damaging Het
Arhgap8 G T 15: 84,766,307 probably benign Het
Atp1a4 T A 1: 172,231,151 D909V probably damaging Het
Cdc5l A T 17: 45,407,931 D586E probably damaging Het
Chd3 G T 11: 69,361,196 Y79* probably null Het
Cnot3 C A 7: 3,656,156 S467* probably null Het
Col18a1 A T 10: 77,067,623 probably benign Het
Col19a1 C A 1: 24,328,053 G483C probably damaging Het
Col5a3 A C 9: 20,804,635 probably null Het
Dctn5 A T 7: 122,133,159 N9I probably benign Het
Emc10 T A 7: 44,491,989 N225I probably damaging Het
Fam213b T C 4: 154,896,601 probably benign Het
Fam219b A G 9: 57,540,698 Y158C probably damaging Het
Fras1 T C 5: 96,726,535 V2273A probably benign Het
Frem3 T A 8: 80,613,032 H651Q possibly damaging Het
Gm13023 T C 4: 143,793,546 V120A possibly damaging Het
Gm4076 T A 13: 85,127,319 noncoding transcript Het
Gpr35 A T 1: 92,982,577 T4S probably benign Het
Ifnab T G 4: 88,690,825 T135P possibly damaging Het
Jag1 T C 2: 137,084,688 I979V probably benign Het
Kank1 G T 19: 25,425,918 M1097I probably damaging Het
Kcnq3 A G 15: 66,028,788 V206A probably damaging Het
Kel T C 6: 41,702,983 K91R probably benign Het
Kirrel G T 3: 87,083,500 R672S probably damaging Het
Kmt2d A G 15: 98,855,543 M143T probably benign Het
Kpna1 A G 16: 36,012,919 I122V probably damaging Het
Lrpap1 A G 5: 35,093,350 S353P probably damaging Het
Mtfr1l T A 4: 134,532,232 Q11L probably damaging Het
Muc5b G A 7: 141,863,069 V3251M probably benign Het
Mup8 C T 4: 60,219,746 D174N probably benign Het
Nup155 A T 15: 8,147,284 E1015D probably benign Het
Olfr1338 C A 4: 118,753,934 L201F probably benign Het
Olfr1499 T C 19: 13,815,371 Y73C probably damaging Het
P2rx7 T C 5: 122,663,605 F188L possibly damaging Het
Pacrg A G 17: 10,839,832 F13L probably benign Het
Palb2 A T 7: 122,124,499 S676T possibly damaging Het
Pdia6 T A 12: 17,281,039 probably null Het
Pfkm A T 15: 98,126,385 I425F possibly damaging Het
Pikfyve C T 1: 65,252,467 R1282* probably null Het
Pole C T 5: 110,297,073 L432F probably damaging Het
Psat1 A G 19: 15,906,123 Y343H probably damaging Het
Ptprj C T 2: 90,478,968 R51K probably benign Het
Qars A G 9: 108,508,919 D103G probably benign Het
Rims2 A T 15: 39,459,593 I768F possibly damaging Het
Ryr2 A G 13: 11,635,582 probably benign Het
Sez6l T C 5: 112,475,403 H94R probably benign Het
Slco1c1 T A 6: 141,544,827 N211K possibly damaging Het
Strbp T C 2: 37,586,503 probably benign Het
Tceanc2 T A 4: 107,147,681 H90L probably damaging Het
Tdrkh A T 3: 94,424,537 T90S possibly damaging Het
Tiam2 A G 17: 3,509,548 D1288G probably damaging Het
Tln1 T C 4: 43,532,861 D2447G possibly damaging Het
Tmem63c G A 12: 87,065,549 V141M probably benign Het
Tpp2 T A 1: 43,956,489 V268E probably damaging Het
Tprkb T A 6: 85,924,418 C13S probably benign Het
Traf3ip3 T C 1: 193,195,077 T184A probably damaging Het
Trpc6 T A 9: 8,649,301 M504K probably benign Het
Ttn G T 2: 76,767,223 S18036* probably null Het
Wdfy4 A T 14: 32,966,435 C2914S probably damaging Het
Ylpm1 T A 12: 85,049,258 probably benign Het
Zfp644 T C 5: 106,637,268 H471R probably damaging Het
Zfyve16 C T 13: 92,511,817 E910K possibly damaging Het
Other mutations in Robo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Robo4 APN 9 37411104 missense probably damaging 1.00
IGL00392:Robo4 APN 9 37408229 missense probably damaging 1.00
IGL00491:Robo4 APN 9 37405935 missense possibly damaging 0.52
IGL00792:Robo4 APN 9 37408211 missense probably damaging 1.00
IGL01062:Robo4 APN 9 37406000 missense probably benign 0.08
IGL01287:Robo4 APN 9 37413040 missense possibly damaging 0.96
IGL02289:Robo4 APN 9 37408200 missense probably damaging 1.00
IGL02486:Robo4 APN 9 37408374 missense probably damaging 1.00
IGL02851:Robo4 APN 9 37413382 missense probably damaging 0.96
IGL02898:Robo4 APN 9 37408176 missense probably damaging 0.99
IGL02965:Robo4 APN 9 37410469 missense possibly damaging 0.82
IGL03071:Robo4 APN 9 37404284 splice site probably benign
H8562:Robo4 UTSW 9 37405810 intron probably benign
PIT4305001:Robo4 UTSW 9 37411391 missense probably damaging 1.00
R0056:Robo4 UTSW 9 37404477 missense probably benign 0.03
R0068:Robo4 UTSW 9 37404477 missense probably benign 0.03
R0233:Robo4 UTSW 9 37402681 missense probably damaging 1.00
R0233:Robo4 UTSW 9 37402681 missense probably damaging 1.00
R0416:Robo4 UTSW 9 37404766 splice site probably benign
R1005:Robo4 UTSW 9 37408251 missense probably damaging 1.00
R1174:Robo4 UTSW 9 37413052 missense probably damaging 1.00
R1183:Robo4 UTSW 9 37408052 missense probably damaging 1.00
R1254:Robo4 UTSW 9 37410840 critical splice donor site probably null
R1398:Robo4 UTSW 9 37408076 critical splice donor site probably null
R1505:Robo4 UTSW 9 37403227 missense probably damaging 0.98
R1701:Robo4 UTSW 9 37403443 missense probably benign 0.44
R1834:Robo4 UTSW 9 37413059 missense probably benign 0.09
R1899:Robo4 UTSW 9 37404070 splice site probably benign
R2203:Robo4 UTSW 9 37411490 frame shift probably null
R2204:Robo4 UTSW 9 37411490 frame shift probably null
R2351:Robo4 UTSW 9 37411660 missense probably benign 0.01
R2448:Robo4 UTSW 9 37402662 missense possibly damaging 0.96
R2847:Robo4 UTSW 9 37404476 nonsense probably null
R2851:Robo4 UTSW 9 37411490 frame shift probably null
R2852:Robo4 UTSW 9 37411490 frame shift probably null
R2877:Robo4 UTSW 9 37411490 frame shift probably null
R3123:Robo4 UTSW 9 37411490 frame shift probably null
R3124:Robo4 UTSW 9 37411490 frame shift probably null
R3125:Robo4 UTSW 9 37411490 frame shift probably null
R3805:Robo4 UTSW 9 37404438 missense possibly damaging 0.73
R3806:Robo4 UTSW 9 37404438 missense possibly damaging 0.73
R3892:Robo4 UTSW 9 37411490 frame shift probably null
R3905:Robo4 UTSW 9 37403505 nonsense probably null
R3938:Robo4 UTSW 9 37402017 start gained probably benign
R4261:Robo4 UTSW 9 37405581 missense probably benign 0.04
R4434:Robo4 UTSW 9 37411490 frame shift probably null
R4435:Robo4 UTSW 9 37411490 frame shift probably null
R4561:Robo4 UTSW 9 37411490 frame shift probably null
R4562:Robo4 UTSW 9 37411490 frame shift probably null
R4568:Robo4 UTSW 9 37404822 missense possibly damaging 0.59
R4695:Robo4 UTSW 9 37403199 missense probably damaging 1.00
R4921:Robo4 UTSW 9 37402560 missense probably benign
R5000:Robo4 UTSW 9 37408368 missense probably benign 0.02
R5056:Robo4 UTSW 9 37404806 missense probably benign 0.00
R5125:Robo4 UTSW 9 37407960 missense probably damaging 1.00
R5178:Robo4 UTSW 9 37407960 missense probably damaging 1.00
R5278:Robo4 UTSW 9 37411490 frame shift probably null
R5279:Robo4 UTSW 9 37411490 frame shift probably null
R5285:Robo4 UTSW 9 37411490 frame shift probably null
R5347:Robo4 UTSW 9 37411490 frame shift probably null
R5348:Robo4 UTSW 9 37411490 frame shift probably null
R5361:Robo4 UTSW 9 37413378 missense probably benign 0.01
R5403:Robo4 UTSW 9 37411490 frame shift probably null
R5404:Robo4 UTSW 9 37411490 frame shift probably null
R5488:Robo4 UTSW 9 37411490 frame shift probably null
R5489:Robo4 UTSW 9 37411490 frame shift probably null
R5490:Robo4 UTSW 9 37411490 frame shift probably null
R5494:Robo4 UTSW 9 37411490 frame shift probably null
R5629:Robo4 UTSW 9 37408362 missense probably damaging 1.00
R5736:Robo4 UTSW 9 37404797 missense possibly damaging 0.63
R5796:Robo4 UTSW 9 37411674 missense probably benign 0.00
R5987:Robo4 UTSW 9 37411400 missense probably damaging 1.00
R6178:Robo4 UTSW 9 37405630 nonsense probably null
R6189:Robo4 UTSW 9 37403533 missense probably benign 0.35
R6365:Robo4 UTSW 9 37410712 missense probably benign 0.34
R6528:Robo4 UTSW 9 37404368 missense possibly damaging 0.92
R6887:Robo4 UTSW 9 37402067 missense possibly damaging 0.82
R7196:Robo4 UTSW 9 37402705 missense possibly damaging 0.92
R7408:Robo4 UTSW 9 37410981 missense probably benign 0.09
R7419:Robo4 UTSW 9 37402809 missense probably benign 0.18
R7486:Robo4 UTSW 9 37405574 missense probably damaging 0.99
R7707:Robo4 UTSW 9 37413122 missense probably damaging 1.00
R7839:Robo4 UTSW 9 37410759 missense probably damaging 1.00
R8079:Robo4 UTSW 9 37402635 missense possibly damaging 0.82
R8081:Robo4 UTSW 9 37405640 missense probably damaging 0.99
R8280:Robo4 UTSW 9 37404076 missense probably benign 0.00
R8526:Robo4 UTSW 9 37403505 nonsense probably null
R8547:Robo4 UTSW 9 37404378 missense possibly damaging 0.69
R8735:Robo4 UTSW 9 37408281 missense possibly damaging 0.92
R8836:Robo4 UTSW 9 37405834 missense unknown
R8889:Robo4 UTSW 9 37403305 missense probably benign 0.00
Posted On2016-08-02