Mutagenetix > Incidental Mutation

Incidental Mutation 'R5447:Robo2'

429156

Institutional Source

Beutler Lab

Gene Symbol

Robo2

Ensembl Gene

ENSMUSG00000052516

Gene Name

roundabout guidance receptor 2

Synonyms

2600013A04Rik, 9430089E08Rik, D230004I22Rik

MMRRC Submission

043012-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R5447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73688727-74208713 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 73770654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 490 (Y490*)

Ref Sequence

ENSEMBL: ENSMUSP00000154010 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102329

Predicted Effect

probably null
Transcript: ENSMUST00000116586
AA Change: Y490*

SMART Domains

Protein: ENSMUSP00000112285
Gene: ENSMUSG00000052516
AA Change: Y490*

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 null
Transcript: ENSMUST00000117200
AA Change: Y486*

SMART Domains

Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516
AA Change: Y486*

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

probably null
Transcript: ENSMUST00000117785
AA Change: Y486*

SMART Domains

Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: Y486*

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 null
Transcript: ENSMUST00000226478
AA Change: Y490*

Predicted Effect

probably null
Transcript: ENSMUST00000227347
AA Change: Y490*

Meta Mutation Damage Score

0.9703

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (71/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,891,061 (GRCm39)	I479V	probably damaging	Het
Adam30	A	G	3: 98,068,659 (GRCm39)	D164G	probably benign	Het
Adgrl3	T	A	5: 81,613,188 (GRCm39)		probably benign	Het
Adrb1	T	C	19: 56,711,519 (GRCm39)	I239T	probably benign	Het
Albfm1	C	A	5: 90,732,169 (GRCm39)	A458E	probably damaging	Het
B4galnt3	T	C	6: 120,192,018 (GRCm39)	T572A	probably benign	Het
Baz2b	T	C	2: 59,744,332 (GRCm39)	E1391G	probably damaging	Het
BC016579	A	G	16: 45,469,252 (GRCm39)	V72A	probably benign	Het
Btnl10	A	T	11: 58,813,144 (GRCm39)	I258F	probably benign	Het
Cdh5	A	T	8: 104,855,994 (GRCm39)	D309V	probably damaging	Het
Cdhr2	A	G	13: 54,881,063 (GRCm39)	D1042G	probably damaging	Het
Clk2	G	T	3: 89,074,498 (GRCm39)	V53F	possibly damaging	Het
Cyfip2	T	C	11: 46,182,413 (GRCm39)	D15G	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Dmbt1	A	G	7: 130,721,240 (GRCm39)	Y1836C	probably damaging	Het
Dysf	T	C	6: 84,172,245 (GRCm39)	F1905L	probably damaging	Het
E130114P18Rik	A	G	4: 97,578,955 (GRCm39)	S7P	unknown	Het
Fam110a	T	C	2: 151,812,629 (GRCm39)	E47G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Helb	T	A	10: 119,938,806 (GRCm39)	D556V	possibly damaging	Het
Hoxd4	A	G	2: 74,557,687 (GRCm39)	E22G	probably damaging	Het
Hsd17b8	A	T	17: 34,245,886 (GRCm39)	V202D	probably damaging	Het
Il1rl2	T	G	1: 40,368,316 (GRCm39)	I162R	probably damaging	Het
Lhfpl5	A	G	17: 28,795,071 (GRCm39)	T33A	probably damaging	Het
Mapk8ip3	G	A	17: 25,118,163 (GRCm39)	A1283V	probably benign	Het
Mettl13	A	G	1: 162,363,449 (GRCm39)	V227A	probably benign	Het
Mmgt2	T	A	11: 62,555,824 (GRCm39)	C57*	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mylk2	T	C	2: 152,754,430 (GRCm39)	S175P	probably damaging	Het
Neu4	C	T	1: 93,950,140 (GRCm39)	T33M	probably damaging	Het
Nfs1	C	T	2: 155,984,056 (GRCm39)	R107H	probably benign	Het
Nfxl1	C	T	5: 72,686,512 (GRCm39)	R563Q	probably benign	Het
Nid1	A	G	13: 13,612,495 (GRCm39)	D70G	probably benign	Het
Nup160	C	A	2: 90,555,959 (GRCm39)	Q1220K	possibly damaging	Het
Or1ad8	G	A	11: 50,898,170 (GRCm39)	V124M	possibly damaging	Het
Or1e22	A	G	11: 73,377,002 (GRCm39)	V216A	probably benign	Het
Or52s6	A	C	7: 103,092,147 (GRCm39)	M61R	probably damaging	Het
Or5k8	A	T	16: 58,644,846 (GRCm39)	C75*	probably null	Het
Pdgfrb	T	A	18: 61,201,180 (GRCm39)	V422E	probably damaging	Het
Pear1	G	A	3: 87,666,449 (GRCm39)	R85C	probably damaging	Het
Pkhd1	T	A	1: 20,309,609 (GRCm39)	M2780L	probably benign	Het
Ppp4r4	T	C	12: 103,550,410 (GRCm39)	V62A	possibly damaging	Het
Prol1	C	T	5: 88,476,125 (GRCm39)	P172S	unknown	Het
Proz	A	G	8: 13,122,578 (GRCm39)	I231V	probably benign	Het
Ptch1	T	G	13: 63,675,059 (GRCm39)	M718L	probably benign	Het
Ptprs	A	G	17: 56,736,128 (GRCm39)	C102R	possibly damaging	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Skint6	T	A	4: 112,963,106 (GRCm39)	S442C	probably benign	Het
Snw1	T	C	12: 87,502,485 (GRCm39)	E303G	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Stk10	C	T	11: 32,554,166 (GRCm39)	Q618*	probably null	Het
Tmc3	A	T	7: 83,271,569 (GRCm39)	E907V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	A	2: 76,729,451 (GRCm39)		probably benign	Het
Vps39	T	C	2: 120,183,413 (GRCm39)	D19G	probably benign	Het
Zan	T	C	5: 137,470,453 (GRCm39)	S229G	probably damaging	Het
Zfp141	A	T	7: 42,124,983 (GRCm39)	C496*	probably null	Het
Zgrf1	T	C	3: 127,356,768 (GRCm39)	S665P	possibly damaging	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
R1761: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
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'- GACACCATGTTATGTGCCAAC -3'
(R):5'- GACAGTGACACAATGGAATCCC -3'

Sequencing Primer
(F):5'- GACACCATGTTATGTGCCAACTAATG -3'
(R):5'- GTGACACAATGGAATCCCACAAG -3'

Posted On

2016-09-06