Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03102:Robo4'

418784

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Robo4

Ensembl Gene

ENSMUSG00000032125

Gene Name

roundabout guidance receptor 4

Synonyms

Magic roundabout, 1200012D01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL03102

Quality Score

Status

Chromosome

Chromosomal Location

37313198-37325319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37315481 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8C310

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,744,804 (GRCm39)		probably null	Het
Alyref	G	A	11: 120,488,591 (GRCm39)	P79L	possibly damaging	Het
Arhgap28	T	C	17: 68,203,231 (GRCm39)	D74G	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdc5l	A	T	17: 45,718,857 (GRCm39)	D586E	probably damaging	Het
Chd3	G	T	11: 69,252,022 (GRCm39)	Y79*	probably null	Het
Cnot3	C	A	7: 3,659,155 (GRCm39)	S467*	probably null	Het
Col18a1	A	T	10: 76,903,457 (GRCm39)		probably benign	Het
Col19a1	C	A	1: 24,367,134 (GRCm39)	G483C	probably damaging	Het
Col5a3	A	C	9: 20,715,931 (GRCm39)		probably null	Het
Dctn5	A	T	7: 121,732,382 (GRCm39)	N9I	probably benign	Het
Emc10	T	A	7: 44,141,413 (GRCm39)	N225I	probably damaging	Het
Fam219b	A	G	9: 57,447,981 (GRCm39)	Y158C	probably damaging	Het
Fras1	T	C	5: 96,874,394 (GRCm39)	V2273A	probably benign	Het
Frem3	T	A	8: 81,339,661 (GRCm39)	H651Q	possibly damaging	Het
Gm4076	T	A	13: 85,275,438 (GRCm39)		noncoding transcript	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Ifnab	T	G	4: 88,609,062 (GRCm39)	T135P	possibly damaging	Het
Jag1	T	C	2: 136,926,608 (GRCm39)	I979V	probably benign	Het
Kank1	G	T	19: 25,403,282 (GRCm39)	M1097I	probably damaging	Het
Kcnq3	A	G	15: 65,900,637 (GRCm39)	V206A	probably damaging	Het
Kel	T	C	6: 41,679,917 (GRCm39)	K91R	probably benign	Het
Kirrel1	G	T	3: 86,990,807 (GRCm39)	R672S	probably damaging	Het
Kmt2d	A	G	15: 98,753,424 (GRCm39)	M143T	probably benign	Het
Kpna1	A	G	16: 35,833,289 (GRCm39)	I122V	probably damaging	Het
Lrpap1	A	G	5: 35,250,694 (GRCm39)	S353P	probably damaging	Het
Mtfr1l	T	A	4: 134,259,543 (GRCm39)	Q11L	probably damaging	Het
Muc5b	G	A	7: 141,416,806 (GRCm39)	V3251M	probably benign	Het
Mup8	C	T	4: 60,219,746 (GRCm39)	D174N	probably benign	Het
Nup155	A	T	15: 8,176,768 (GRCm39)	E1015D	probably benign	Het
Or10ak14	C	A	4: 118,611,131 (GRCm39)	L201F	probably benign	Het
Or9i14	T	C	19: 13,792,735 (GRCm39)	Y73C	probably damaging	Het
P2rx7	T	C	5: 122,801,668 (GRCm39)	F188L	possibly damaging	Het
Pacrg	A	G	17: 11,058,719 (GRCm39)	F13L	probably benign	Het
Palb2	A	T	7: 121,723,722 (GRCm39)	S676T	possibly damaging	Het
Pdia6	T	A	12: 17,331,040 (GRCm39)		probably null	Het
Pfkm	A	T	15: 98,024,266 (GRCm39)	I425F	possibly damaging	Het
Pikfyve	C	T	1: 65,291,626 (GRCm39)	R1282*	probably null	Het
Pole	C	T	5: 110,444,939 (GRCm39)	L432F	probably damaging	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prr5	G	T	15: 84,650,508 (GRCm39)		probably benign	Het
Prxl2b	T	C	4: 154,981,058 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,883,487 (GRCm39)	Y343H	probably damaging	Het
Ptprj	C	T	2: 90,309,312 (GRCm39)	R51K	probably benign	Het
Qars1	A	G	9: 108,386,118 (GRCm39)	D103G	probably benign	Het
Rims2	A	T	15: 39,322,989 (GRCm39)	I768F	possibly damaging	Het
Ryr2	A	G	13: 11,650,468 (GRCm39)		probably benign	Het
Sez6l	T	C	5: 112,623,269 (GRCm39)	H94R	probably benign	Het
Slco1c1	T	A	6: 141,490,553 (GRCm39)	N211K	possibly damaging	Het
Strbp	T	C	2: 37,476,515 (GRCm39)		probably benign	Het
Tceanc2	T	A	4: 107,004,878 (GRCm39)	H90L	probably damaging	Het
Tdrkh	A	T	3: 94,331,844 (GRCm39)	T90S	possibly damaging	Het
Tiam2	A	G	17: 3,559,823 (GRCm39)	D1288G	probably damaging	Het
Tln1	T	C	4: 43,532,861 (GRCm39)	D2447G	possibly damaging	Het
Tmem63c	G	A	12: 87,112,323 (GRCm39)	V141M	probably benign	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Tprkb	T	A	6: 85,901,400 (GRCm39)	C13S	probably benign	Het
Traf3ip3	T	C	1: 192,877,385 (GRCm39)	T184A	probably damaging	Het
Trpc6	T	A	9: 8,649,302 (GRCm39)	M504K	probably benign	Het
Ttn	G	T	2: 76,597,567 (GRCm39)	S18036*	probably null	Het
Wdfy4	A	T	14: 32,688,392 (GRCm39)	C2914S	probably damaging	Het
Ylpm1	T	A	12: 85,096,032 (GRCm39)		probably benign	Het
Zfp644	T	C	5: 106,785,134 (GRCm39)	H471R	probably damaging	Het
Zfp747l1	T	C	7: 126,983,951 (GRCm39)	T384A	probably benign	Het
Zfyve16	C	T	13: 92,648,325 (GRCm39)	E910K	possibly damaging	Het

Other mutations in Robo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2016-08-02