Mutagenetix > Incidental Mutation

Incidental Mutation 'R8280:Robo4'

638153

Institutional Source

Beutler Lab

Gene Symbol

Robo4

Ensembl Gene

ENSMUSG00000032125

Gene Name

roundabout guidance receptor 4

Synonyms

Magic roundabout, 1200012D01Rik

MMRRC Submission

067703-MU

Accession Numbers

Essential gene?

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

Stock #

R8280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37313198-37325319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37315372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 239 (S239P)

Ref Sequence

ENSEMBL: ENSMUSP00000110698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102895] [ENSMUST00000115046] [ENSMUST00000115048]

AlphaFold

Q8C310

Predicted Effect

probably benign
Transcript: ENSMUST00000102895
AA Change: S239P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099959
Gene: ENSMUSG00000032125
AA Change: S239P

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 benign
Transcript: ENSMUST00000115046
AA Change: S239P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110698
Gene: ENSMUSG00000032125
AA Change: S239P

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

SMART Domains

Protein: ENSMUSP00000110700
Gene: ENSMUSG00000032125
AA Change: S239P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,667 (GRCm39)	V248A	possibly damaging	Het
Alpk2	A	G	18: 65,440,274 (GRCm39)	I373T	probably benign	Het
Anxa1	A	T	19: 20,352,650 (GRCm39)	M308K	possibly damaging	Het
Apob	T	C	12: 8,060,851 (GRCm39)	M3111T	possibly damaging	Het
Cacna1e	T	C	1: 154,344,839 (GRCm39)	D1095G	probably damaging	Het
Cacna2d3	C	T	14: 28,704,328 (GRCm39)	V818I	probably benign	Het
Ces1c	T	A	8: 93,825,809 (GRCm39)	H550L	possibly damaging	Het
Cluap1	A	G	16: 3,729,017 (GRCm39)		probably benign	Het
Cped1	G	T	6: 21,986,820 (GRCm39)	R4L	unknown	Het
Cyb561d1	A	G	3: 108,106,532 (GRCm39)	I229T	probably benign	Het
Cyb561d1	A	G	3: 108,106,713 (GRCm39)	C169R	probably damaging	Het
Dip2a	C	T	10: 76,100,610 (GRCm39)	V1522M	possibly damaging	Het
Diras2	A	G	13: 52,661,863 (GRCm39)	M148T	probably benign	Het
Dnah5	G	T	15: 28,408,538 (GRCm39)	A3508S	probably benign	Het
Fam43b	T	C	4: 138,123,281 (GRCm39)	E13G	probably damaging	Het
Farsa	T	G	8: 85,587,808 (GRCm39)	I113S	probably damaging	Het
Fcrl2	G	T	3: 87,166,364 (GRCm39)	S137*	probably null	Het
Fer1l4	T	C	2: 155,891,620 (GRCm39)	D114G	probably damaging	Het
Gm4181	A	T	14: 51,868,015 (GRCm39)	*185R	probably null	Het
Gm5901	G	A	7: 105,027,105 (GRCm39)		probably null	Het
Heatr4	C	A	12: 84,016,670 (GRCm39)	E532D	probably benign	Het
Il10	C	T	1: 130,947,749 (GRCm39)	P34L	possibly damaging	Het
Irag1	T	C	7: 110,522,828 (GRCm39)	E205G	possibly damaging	Het
Lilra6	A	G	7: 3,916,046 (GRCm39)	L271P	probably benign	Het
Mlh1	A	T	9: 111,078,286 (GRCm39)		probably null	Het
Naaa	T	C	5: 92,411,308 (GRCm39)	Y293C	probably damaging	Het
Ndufaf7	G	A	17: 79,251,275 (GRCm39)	G227R	possibly damaging	Het
Nmral1	A	G	16: 4,531,659 (GRCm39)	S199P	probably damaging	Het
Or1o11	T	C	17: 37,756,744 (GRCm39)	F100L	probably benign	Het
Or4c122	A	T	2: 89,079,234 (GRCm39)	I268K	probably damaging	Het
Or4k2	A	C	14: 50,423,723 (GRCm39)	L318*	probably null	Het
Or4x6	C	A	2: 89,949,742 (GRCm39)	V67L	probably benign	Het
Or6b2	T	C	1: 92,407,729 (GRCm39)	I205V	noncoding transcript	Het
Or8b52	T	A	9: 38,576,783 (GRCm39)	Y119F	probably damaging	Het
Or8g21	C	T	9: 38,906,075 (GRCm39)	V219I	probably benign	Het
Paxbp1	G	T	16: 90,831,123 (GRCm39)	H418N	probably benign	Het
Prtg	A	G	9: 72,813,433 (GRCm39)	Y931C	probably damaging	Het
Rragd	A	G	4: 32,995,112 (GRCm39)	R76G	probably benign	Het
Samd8	G	A	14: 21,830,219 (GRCm39)	W278*	probably null	Het
Slc22a8	T	A	19: 8,586,627 (GRCm39)	Y379*	probably null	Het
Taar8c	T	A	10: 23,976,835 (GRCm39)	I326F	probably benign	Het
Tmem245	A	T	4: 56,890,884 (GRCm39)	S715T	possibly damaging	Het
Tnnt3	A	G	7: 142,055,359 (GRCm39)	I1M	unknown	Het
Trio	A	G	15: 27,902,996 (GRCm39)	I214T	unknown	Het
Uqcrfs1	A	T	13: 30,729,071 (GRCm39)	S54T	probably benign	Het
Usf3	A	G	16: 44,038,864 (GRCm39)	T1115A	probably benign	Het
Zscan4f	A	T	7: 11,251,599 (GRCm39)	I212F	probably 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
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
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'- AGGTAGGAGACTCCAGTTAGTG -3'
(R):5'- GTGTATGACTCAGCAGGTGC -3'

Sequencing Primer
(F):5'- AGACTCCAGTTAGTGTGGTCACC -3'
(R):5'- GAGCTCATGGCAGCCCTAATC -3'

Posted On

2020-07-28