Mutagenetix > Incidental Mutation

Incidental Mutation 'R1761:Robo2'

192811

Institutional Source

Beutler Lab

Gene Symbol

Robo2

Ensembl Gene

ENSMUSG00000052516

Gene Name

roundabout guidance receptor 2

Synonyms

2600013A04Rik, 9430089E08Rik, D230004I22Rik

MMRRC Submission

039793-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R1761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73688727-74208713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73831912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 256 (V256A)

Ref Sequence

ENSEMBL: ENSMUSP00000154353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117200] [ENSMUST00000117785] [ENSMUST00000226478] [ENSMUST00000227347]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116586
AA Change: V256A

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112285
Gene: ENSMUSG00000052516
AA Change: V256A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	43	117	3.56e-9	SMART
IGc2	145	210	3.33e-9	SMART
IGc2	237	300	6.59e-13	SMART
IGc2	330	402	1.3e-11	SMART
IGc2	434	499	3.73e-12	SMART
FN3	526	608	1.42e-15	SMART
FN3	640	725	3.54e-2	SMART
FN3	740	827	6.15e-11	SMART
transmembrane domain	864	886	N/A	INTRINSIC
low complexity region	1044	1069	N/A	INTRINSIC
low complexity region	1076	1087	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117200
AA Change: V256A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516
AA Change: V256A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	43	117	3.56e-9	SMART
IGc2	145	210	3.33e-9	SMART
IGc2	237	300	6.59e-13	SMART
IGc2	326	398	1.3e-11	SMART
IGc2	430	495	3.73e-12	SMART
FN3	522	604	1.42e-15	SMART
FN3	636	721	3.54e-2	SMART
FN3	736	823	6.15e-11	SMART
transmembrane domain	860	882	N/A	INTRINSIC
low complexity region	1040	1065	N/A	INTRINSIC
low complexity region	1072	1083	N/A	INTRINSIC
low complexity region	1191	1199	N/A	INTRINSIC
low complexity region	1210	1234	N/A	INTRINSIC
low complexity region	1318	1342	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117785
AA Change: V256A

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: V256A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	43	117	3.56e-9	SMART
IGc2	145	210	3.33e-9	SMART
IGc2	237	300	6.59e-13	SMART
IGc2	326	398	1.3e-11	SMART
IGc2	430	495	3.73e-12	SMART
FN3	522	604	1.42e-15	SMART
FN3	636	721	3.54e-2	SMART
FN3	736	823	6.15e-11	SMART
transmembrane domain	860	882	N/A	INTRINSIC
low complexity region	1072	1107	N/A	INTRINSIC
low complexity region	1114	1125	N/A	INTRINSIC
low complexity region	1233	1241	N/A	INTRINSIC
low complexity region	1252	1276	N/A	INTRINSIC
low complexity region	1351	1362	N/A	INTRINSIC
low complexity region	1451	1475	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226478
AA Change: V256A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000227347
AA Change: V256A

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1977

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(3) Gene trapped(3)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,672 (GRCm39)	H1268Y	possibly damaging	Het
Acan	T	A	7: 78,743,833 (GRCm39)	Y621*	probably null	Het
Aig1	T	C	10: 13,566,328 (GRCm39)	Y152C	probably damaging	Het
Arhgap33	C	T	7: 30,232,488 (GRCm39)		probably null	Het
Bcl6	G	T	16: 23,796,292 (GRCm39)	A45D	probably damaging	Het
Cbx5	T	C	15: 103,121,607 (GRCm39)	D10G	possibly damaging	Het
Ccdc191	A	G	16: 43,763,873 (GRCm39)	I445V	probably benign	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Chil6	A	G	3: 106,301,654 (GRCm39)	F149L	probably damaging	Het
Cntn5	T	C	9: 10,172,059 (GRCm39)	T42A	probably benign	Het
Cpn2	A	T	16: 30,079,014 (GRCm39)	I229N	probably damaging	Het
Cpne8	A	G	15: 90,532,821 (GRCm39)	V62A	probably damaging	Het
Cr2	A	G	1: 194,837,431 (GRCm39)		probably null	Het
Crnn	A	T	3: 93,055,958 (GRCm39)	H248L	probably benign	Het
Csn1s1	A	G	5: 87,826,894 (GRCm39)	S254G	probably benign	Het
Cubn	A	G	2: 13,494,128 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,998,890 (GRCm39)	N3525S	probably damaging	Het
Dpp3	A	G	19: 4,971,177 (GRCm39)	L220P	probably benign	Het
Fam110a	T	C	2: 151,812,125 (GRCm39)	E215G	probably benign	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Fat4	T	C	3: 38,941,638 (GRCm39)	V177A	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gimap5	A	T	6: 48,730,195 (GRCm39)	Q255L	probably damaging	Het
Gm4787	A	G	12: 81,423,950 (GRCm39)	L736S	probably benign	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gpr156	T	C	16: 37,807,929 (GRCm39)	L192P	probably damaging	Het
Gpr179	A	C	11: 97,225,932 (GRCm39)	S2074R	probably benign	Het
Hddc2	G	T	10: 31,202,135 (GRCm39)	D161Y	probably damaging	Het
Hlcs	T	C	16: 94,068,866 (GRCm39)	D265G	probably benign	Het
Hspg2	A	T	4: 137,241,984 (GRCm39)	I573F	possibly damaging	Het
Il1b	T	C	2: 129,207,101 (GRCm39)	K220E	probably damaging	Het
Il5	T	C	11: 53,614,557 (GRCm39)	I66T	probably damaging	Het
Irf6	G	A	1: 192,851,609 (GRCm39)	R400H	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Lmf2	A	G	15: 89,236,916 (GRCm39)	V442A	possibly damaging	Het
Mcm2	T	C	6: 88,866,770 (GRCm39)	I412M	possibly damaging	Het
Mlkl	T	A	8: 112,060,355 (GRCm39)	L18F	possibly damaging	Het
Mug2	C	A	6: 122,051,664 (GRCm39)	H949N	probably benign	Het
Nf1	T	C	11: 79,275,091 (GRCm39)	F51L	probably damaging	Het
Or52j3	T	G	7: 102,836,325 (GRCm39)	C172W	probably damaging	Het
Or7d10	A	T	9: 19,832,445 (GRCm39)	*313C	probably null	Het
Or8k18	T	G	2: 86,085,383 (GRCm39)	Y218S	probably damaging	Het
P3h2	T	C	16: 25,803,800 (GRCm39)	E322G	probably damaging	Het
Pramel21	T	C	4: 143,342,438 (GRCm39)	Y182H	probably benign	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,104,476 (GRCm39)	V116A	possibly damaging	Het
Ranbp2	T	C	10: 58,321,563 (GRCm39)	V2620A	probably benign	Het
Scg3	T	A	9: 75,584,040 (GRCm39)	I154F	probably damaging	Het
Scgn	A	T	13: 24,143,689 (GRCm39)	F225Y	probably damaging	Het
Sec61b	T	C	4: 47,480,137 (GRCm39)	C58R	possibly damaging	Het
Slc25a46	G	T	18: 31,740,315 (GRCm39)	Q96K	possibly damaging	Het
Spmip6	G	A	4: 41,507,223 (GRCm39)	P109L	probably damaging	Het
Sptb	A	G	12: 76,659,382 (GRCm39)	F1173L	probably damaging	Het
Srcap	T	A	7: 127,134,017 (GRCm39)	C893S	probably damaging	Het
Tet3	T	C	6: 83,380,641 (GRCm39)	E509G	probably damaging	Het
Timm10b	C	T	7: 105,332,915 (GRCm39)	R897*	probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tom1	T	C	8: 75,778,179 (GRCm39)	V87A	probably benign	Het
Tti1	T	C	2: 157,849,617 (GRCm39)	I541V	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vgll3	A	T	16: 65,636,614 (GRCm39)	D310V	probably damaging	Het
Vmac	A	G	17: 57,022,788 (GRCm39)	L74P	probably damaging	Het
Zbtb1	A	T	12: 76,432,595 (GRCm39)	K194*	probably null	Het
Zfp429	A	G	13: 67,544,195 (GRCm39)	M76T	probably benign	Het
Zfp808	T	A	13: 62,319,460 (GRCm39)	C230S	possibly damaging	Het
Zfp980	A	G	4: 145,428,612 (GRCm39)	Y447C	probably damaging	Het
Zfp985	A	G	4: 147,668,502 (GRCm39)	T457A	probably benign	Het

Other mutations in Robo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Robo2	APN	16	73,758,588 (GRCm39)	missense	probably benign
IGL00849:Robo2	APN	16	73,770,665 (GRCm39)	missense	possibly damaging	0.80
IGL00908:Robo2	APN	16	73,782,579 (GRCm39)	missense	probably damaging	0.98
IGL00944:Robo2	APN	16	73,730,585 (GRCm39)	missense	possibly damaging	0.92
IGL00955:Robo2	APN	16	73,812,860 (GRCm39)	missense	probably damaging	1.00
IGL00970:Robo2	APN	16	73,693,934 (GRCm39)	missense	probably benign	0.00
IGL01020:Robo2	APN	16	73,725,039 (GRCm39)	missense	probably benign	0.06
IGL01347:Robo2	APN	16	74,149,744 (GRCm39)	missense	probably damaging	1.00
IGL02280:Robo2	APN	16	73,843,704 (GRCm39)	missense	probably damaging	1.00
IGL02424:Robo2	APN	16	73,770,189 (GRCm39)	missense	possibly damaging	0.89
IGL03376:Robo2	APN	16	73,753,380 (GRCm39)	missense	probably damaging	1.00
LCD18:Robo2	UTSW	16	74,055,954 (GRCm38)	intron	probably benign
P0018:Robo2	UTSW	16	73,843,694 (GRCm39)	missense	possibly damaging	0.82
R0314:Robo2	UTSW	16	73,753,525 (GRCm39)	missense	probably damaging	1.00
R0324:Robo2	UTSW	16	73,764,739 (GRCm39)	missense	probably damaging	1.00
R0539:Robo2	UTSW	16	73,782,462 (GRCm39)	splice site	probably benign
R0620:Robo2	UTSW	16	73,764,690 (GRCm39)	missense	possibly damaging	0.92
R0630:Robo2	UTSW	16	73,713,093 (GRCm39)	missense	probably benign	0.05
R0701:Robo2	UTSW	16	73,843,762 (GRCm39)	missense	probably damaging	1.00
R1155:Robo2	UTSW	16	73,831,996 (GRCm39)	missense	probably damaging	1.00
R1168:Robo2	UTSW	16	73,745,184 (GRCm39)	missense	probably damaging	1.00
R1195:Robo2	UTSW	16	73,713,016 (GRCm39)	splice site	probably null
R1195:Robo2	UTSW	16	73,713,016 (GRCm39)	splice site	probably null
R1195:Robo2	UTSW	16	73,713,016 (GRCm39)	splice site	probably null
R1317:Robo2	UTSW	16	73,831,912 (GRCm39)	missense	probably damaging	1.00
R1422:Robo2	UTSW	16	73,775,336 (GRCm39)	missense	probably damaging	0.99
R1452:Robo2	UTSW	16	73,758,798 (GRCm39)	missense	probably damaging	1.00
R1649:Robo2	UTSW	16	73,695,889 (GRCm39)	missense	probably benign	0.36
R1709:Robo2	UTSW	16	73,753,411 (GRCm39)	missense	possibly damaging	0.83
R1751:Robo2	UTSW	16	73,831,912 (GRCm39)	missense	probably damaging	1.00
R1885:Robo2	UTSW	16	73,713,033 (GRCm39)	missense	probably benign	0.00
R1911:Robo2	UTSW	16	73,755,213 (GRCm39)	missense	probably damaging	1.00
R1919:Robo2	UTSW	16	73,696,042 (GRCm39)	missense	probably benign
R2005:Robo2	UTSW	16	73,730,003 (GRCm39)	missense	possibly damaging	0.82
R2851:Robo2	UTSW	16	73,758,776 (GRCm39)	missense	probably damaging	1.00
R3732:Robo2	UTSW	16	73,717,635 (GRCm39)	missense	possibly damaging	0.64
R3732:Robo2	UTSW	16	73,717,635 (GRCm39)	missense	possibly damaging	0.64
R3733:Robo2	UTSW	16	73,717,635 (GRCm39)	missense	possibly damaging	0.64
R3734:Robo2	UTSW	16	73,717,635 (GRCm39)	missense	possibly damaging	0.64
R3913:Robo2	UTSW	16	73,831,893 (GRCm39)	missense	probably damaging	1.00
R3956:Robo2	UTSW	16	73,758,755 (GRCm39)	missense	probably damaging	1.00
R4394:Robo2	UTSW	16	73,745,267 (GRCm39)	missense	probably benign	0.13
R4426:Robo2	UTSW	16	73,745,154 (GRCm39)	missense	probably damaging	1.00
R4437:Robo2	UTSW	16	73,770,132 (GRCm39)	missense	possibly damaging	0.88
R4454:Robo2	UTSW	16	74,149,407 (GRCm39)	intron	probably benign
R4478:Robo2	UTSW	16	73,812,761 (GRCm39)	missense	probably damaging	1.00
R4586:Robo2	UTSW	16	73,758,761 (GRCm39)	missense	probably damaging	0.96
R4621:Robo2	UTSW	16	73,782,821 (GRCm39)	missense	probably benign	0.00
R4673:Robo2	UTSW	16	73,701,266 (GRCm39)	splice site	probably null
R4798:Robo2	UTSW	16	74,149,633 (GRCm39)	missense	probably damaging	1.00
R4812:Robo2	UTSW	16	73,713,176 (GRCm39)	missense	probably benign	0.00
R4855:Robo2	UTSW	16	73,768,079 (GRCm39)	missense	probably damaging	1.00
R4910:Robo2	UTSW	16	73,730,666 (GRCm39)	missense	probably damaging	0.99
R4916:Robo2	UTSW	16	73,695,803 (GRCm39)	missense	possibly damaging	0.53
R4948:Robo2	UTSW	16	74,149,726 (GRCm39)	missense	possibly damaging	0.88
R5325:Robo2	UTSW	16	73,770,673 (GRCm39)	missense	possibly damaging	0.72
R5326:Robo2	UTSW	16	73,695,853 (GRCm39)	missense	probably benign	0.20
R5447:Robo2	UTSW	16	73,770,654 (GRCm39)	nonsense	probably null
R5542:Robo2	UTSW	16	73,695,853 (GRCm39)	missense	probably benign	0.20
R5545:Robo2	UTSW	16	73,758,635 (GRCm39)	missense	probably damaging	1.00
R5646:Robo2	UTSW	16	73,758,707 (GRCm39)	missense	probably damaging	0.99
R5734:Robo2	UTSW	16	74,149,672 (GRCm39)	missense	probably damaging	1.00
R5892:Robo2	UTSW	16	73,692,668 (GRCm39)	utr 3 prime	probably benign
R5960:Robo2	UTSW	16	73,730,603 (GRCm39)	missense	probably damaging	1.00
R6126:Robo2	UTSW	16	73,717,570 (GRCm39)	missense	probably benign	0.00
R6130:Robo2	UTSW	16	73,717,570 (GRCm39)	missense	probably benign	0.00
R6153:Robo2	UTSW	16	73,717,617 (GRCm39)	missense	probably damaging	1.00
R6240:Robo2	UTSW	16	73,779,027 (GRCm39)	missense	probably damaging	1.00
R6247:Robo2	UTSW	16	73,764,672 (GRCm39)	missense	probably damaging	1.00
R6304:Robo2	UTSW	16	73,755,196 (GRCm39)	missense	probably damaging	1.00
R6337:Robo2	UTSW	16	73,725,039 (GRCm39)	missense	probably benign	0.06
R6431:Robo2	UTSW	16	73,843,697 (GRCm39)	nonsense	probably null
R6440:Robo2	UTSW	16	73,713,010 (GRCm39)	missense	probably benign	0.31
R6596:Robo2	UTSW	16	73,767,996 (GRCm39)	missense	probably damaging	1.00
R6919:Robo2	UTSW	16	73,758,755 (GRCm39)	missense	probably damaging	1.00
R6927:Robo2	UTSW	16	73,778,946 (GRCm39)	missense	probably damaging	1.00
R7029:Robo2	UTSW	16	73,745,225 (GRCm39)	missense	probably damaging	1.00
R7078:Robo2	UTSW	16	74,149,504 (GRCm39)	missense	probably damaging	1.00
R7092:Robo2	UTSW	16	73,753,531 (GRCm39)	missense	probably damaging	0.99
R7136:Robo2	UTSW	16	73,753,438 (GRCm39)	missense	probably damaging	0.99
R7192:Robo2	UTSW	16	73,717,638 (GRCm39)	missense	probably benign	0.19
R7569:Robo2	UTSW	16	73,832,003 (GRCm39)	missense	possibly damaging	0.82
R7686:Robo2	UTSW	16	73,755,293 (GRCm39)	missense	probably damaging	1.00
R7720:Robo2	UTSW	16	73,693,903 (GRCm39)	missense	probably benign	0.00
R7772:Robo2	UTSW	16	73,758,777 (GRCm39)	missense	probably benign	0.24
R7822:Robo2	UTSW	16	73,770,059 (GRCm39)	missense	probably damaging	1.00
R7849:Robo2	UTSW	16	73,770,132 (GRCm39)	missense	possibly damaging	0.88
R7881:Robo2	UTSW	16	73,717,585 (GRCm39)	missense	probably benign	0.00
R7897:Robo2	UTSW	16	73,695,838 (GRCm39)	missense	probably benign
R8135:Robo2	UTSW	16	73,730,048 (GRCm39)	missense	probably benign	0.04
R8297:Robo2	UTSW	16	73,812,814 (GRCm39)	nonsense	probably null
R8307:Robo2	UTSW	16	73,753,498 (GRCm39)	missense	probably damaging	1.00
R8379:Robo2	UTSW	16	73,730,588 (GRCm39)	missense	probably damaging	0.99
R8393:Robo2	UTSW	16	73,775,382 (GRCm39)	missense	probably damaging	1.00
R8474:Robo2	UTSW	16	73,745,150 (GRCm39)	missense	probably damaging	1.00
R8500:Robo2	UTSW	16	73,745,228 (GRCm39)	missense	probably damaging	1.00
R8721:Robo2	UTSW	16	73,703,798 (GRCm39)	missense
R8734:Robo2	UTSW	16	73,764,651 (GRCm39)	splice site	probably benign
R8735:Robo2	UTSW	16	73,755,247 (GRCm39)	missense	probably damaging	1.00
R8840:Robo2	UTSW	16	73,782,570 (GRCm39)	missense	probably damaging	1.00
R8937:Robo2	UTSW	16	73,770,150 (GRCm39)	missense	probably damaging	1.00
R8937:Robo2	UTSW	16	73,770,149 (GRCm39)	missense	probably damaging	1.00
R8968:Robo2	UTSW	16	73,767,941 (GRCm39)	critical splice donor site	probably null
R9134:Robo2	UTSW	16	73,703,738 (GRCm39)	missense
R9622:Robo2	UTSW	16	73,729,952 (GRCm39)	missense	probably benign	0.02
R9662:Robo2	UTSW	16	73,758,566 (GRCm39)	critical splice donor site	probably null
R9708:Robo2	UTSW	16	73,770,197 (GRCm39)	missense	possibly damaging	0.70
R9779:Robo2	UTSW	16	73,767,965 (GRCm39)	missense	probably damaging	0.97
X0063:Robo2	UTSW	16	73,842,716 (GRCm39)	missense	probably damaging	1.00
Z1176:Robo2	UTSW	16	73,730,479 (GRCm39)	missense	probably benign	0.35
Z1177:Robo2	UTSW	16	73,737,187 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCACACAGCAGGTAAGATGCCA -3'
(R):5'- CCTGGAATGCTACTGAGGATCGCA -3'

Sequencing Primer
(F):5'- GGTGGTGGAACCATGAATGTTG -3'
(R):5'- GAGGCAGAAATTCACTGCATATC -3'

Posted On

2014-05-23