Mutagenetix > Incidental Mutations

Incidental Mutation 'R1751:Robo2'

193555

Institutional Source

Beutler Lab

Gene Symbol

Robo2

Ensembl Gene

ENSMUSG00000052516

Gene Name

roundabout guidance receptor 2

Synonyms

9430089E08Rik, 2600013A04Rik, D230004I22Rik

MMRRC Submission

039783-MU

Accession Numbers

Ncbi RefSeq: NM_175549.4; MGI:1890110

Is this an essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73891839-74411825 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74035024 bp

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]

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

0.248

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

MGI Phenotype

Strain: 3759448; 3043127
Lethality: D1
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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	A	14: 49,235,884	T128I	probably benign	Het
Adam26b	T	A	8: 43,519,911	I685F	probably benign	Het
Alcam	A	T	16: 52,270,714	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,643,953	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,718,376	I1189N	probably damaging	Het
AU040320	G	A	4: 126,840,724	G713D	probably damaging	Het
Bank1	G	T	3: 136,234,614	R203S	probably benign	Het
Bank1	A	G	3: 136,254,937	V53A	probably benign	Het
Cacna1g	T	C	11: 94,459,802	S406G	probably benign	Het
Ccdc40	T	A	11: 119,230,696		probably null	Het
Cdc5l	A	T	17: 45,407,805	D628E	probably benign	Het
Chd3	G	A	11: 69,353,901		probably benign	Het
Clstn3	A	T	6: 124,431,999	W860R	probably damaging	Het
Cntn4	G	A	6: 106,618,410		probably null	Het
Coq10b	A	G	1: 55,061,354	R66G	probably damaging	Het
Cpn2	A	T	16: 30,259,667	Y405*	probably null	Het
Cyp2b9	T	C	7: 26,186,675	V89A	probably benign	Het
Depdc1a	T	C	3: 159,523,287	C559R	probably damaging	Het
Ephx1	C	T	1: 180,994,677	G101S	probably damaging	Het
Fam20a	A	T	11: 109,677,838	N287K	probably damaging	Het
Flg	A	T	3: 93,279,913	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643	R242C	probably damaging	Het
Gart	A	C	16: 91,642,949		probably benign	Het
Gm11116	T	C	5: 88,111,452		probably benign	Het
Gm5519	T	C	19: 33,824,991	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 132,234,887	Q154*	probably null	Het
Gnas	T	A	2: 174,297,894		probably benign	Het
Greb1	A	G	12: 16,723,438		probably benign	Het
Grin3a	A	T	4: 49,844,423	V220E	probably damaging	Het
Gstt2	T	C	10: 75,834,264	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,748,775		probably benign	Het
Igf2r	A	C	17: 12,697,441	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,690	L1274P	probably benign	Het
Krt13	A	C	11: 100,121,100	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,737,449	V627A	probably benign	Het
Lrp6	A	G	6: 134,464,568	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Ly96	A	G	1: 16,706,175	T112A	probably benign	Het
Meltf	G	T	16: 31,883,929	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,248,405	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,667,408	T914S	probably benign	Het
Npas4	G	A	19: 4,988,183	P199L	probably benign	Het
Olfr109	A	T	17: 37,466,901	M232L	probably benign	Het
Pcdh10	A	T	3: 45,384,177	H923L	probably damaging	Het
Pcp4	A	C	16: 96,525,489	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,251,904		probably benign	Het
Pias3	T	C	3: 96,701,403	S228P	probably damaging	Het
Pign	A	G	1: 105,653,192	V154A	probably benign	Het
Pik3c2a	A	C	7: 116,346,236	V1445G	probably damaging	Het
Plod3	T	A	5: 136,990,176	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,849,815		probably benign	Het
Prkra	G	T	2: 76,647,240	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,873,628	D49V	possibly damaging	Het
Rfx2	A	G	17: 56,784,754	V313A	probably benign	Het
Rtp1	A	G	16: 23,431,374	E163G	probably damaging	Het
Sbpl	A	G	17: 23,954,803		probably null	Het
Scg3	G	A	9: 75,669,340	T251M	probably damaging	Het
Setbp1	T	C	18: 78,857,398	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,350,108	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,637,100	I522F	probably damaging	Het
Smarca2	T	C	19: 26,640,380		probably benign	Het
Ssbp3	G	T	4: 107,047,415	D336Y	probably damaging	Het
Stox1	T	C	10: 62,659,666	T943A	probably damaging	Het
Sun2	A	G	15: 79,725,557	S694P	probably benign	Het
Tdp1	G	A	12: 99,891,343		probably null	Het
Tfap2a	A	T	13: 40,725,137	I204N	probably damaging	Het
Tfip11	T	A	5: 112,334,432	W519R	probably damaging	Het
Tie1	T	C	4: 118,476,176	E831G	possibly damaging	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,693,183	I78M	possibly damaging	Het
Trank1	T	C	9: 111,391,479	V2428A	probably benign	Het
Trim35	A	G	14: 66,304,168	E247G	probably damaging	Het
Trpc7	T	A	13: 56,776,143	D743V	probably damaging	Het
Trrap	T	C	5: 144,814,575		probably null	Het
Tsc1	A	G	2: 28,676,026	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,418,102	S674P	probably damaging	Het
Tsn	A	T	1: 118,300,888	D201E	probably damaging	Het
Tsr3	T	C	17: 25,242,639	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,456,896	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,187,271	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,462,524	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,772,675	L228Q	probably damaging	Het
Zfp108	C	A	7: 24,261,896	H637Q	probably damaging	Het

Other mutations in Robo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Robo2	APN	16	73961700	missense	probably benign
IGL00849:Robo2	APN	16	73973777	missense	possibly damaging	0.80
IGL00908:Robo2	APN	16	73985691	missense	probably damaging	0.98
IGL00944:Robo2	APN	16	73933697	missense	possibly damaging	0.92
IGL00955:Robo2	APN	16	74015972	missense	probably damaging	1.00
IGL00970:Robo2	APN	16	73897046	missense	probably benign	0.00
IGL01020:Robo2	APN	16	73928151	missense	probably benign	0.06
IGL01347:Robo2	APN	16	74352856	missense	probably damaging	1.00
IGL02280:Robo2	APN	16	74046816	missense	probably damaging	1.00
IGL02424:Robo2	APN	16	73973301	missense	possibly damaging	0.89
IGL03376:Robo2	APN	16	73956492	missense	probably damaging	1.00
LCD18:Robo2	UTSW	16	74055954	intron	probably benign
P0018:Robo2	UTSW	16	74046806	missense	possibly damaging	0.82
R0314:Robo2	UTSW	16	73956637	missense	probably damaging	1.00
R0324:Robo2	UTSW	16	73967851	missense	probably damaging	1.00
R0539:Robo2	UTSW	16	73985574	splice site	probably benign
R0620:Robo2	UTSW	16	73967802	missense	possibly damaging	0.92
R0630:Robo2	UTSW	16	73916205	missense	probably benign	0.05
R0701:Robo2	UTSW	16	74046874	missense	probably damaging	1.00
R1155:Robo2	UTSW	16	74035108	missense	probably damaging	1.00
R1168:Robo2	UTSW	16	73948296	missense	probably damaging	1.00
R1195:Robo2	UTSW	16	73916128	unclassified	probably null
R1195:Robo2	UTSW	16	73916128	unclassified	probably null
R1195:Robo2	UTSW	16	73916128	unclassified	probably null
R1317:Robo2	UTSW	16	74035024	missense	probably damaging	1.00
R1422:Robo2	UTSW	16	73978448	missense	probably damaging	0.99
R1452:Robo2	UTSW	16	73961910	missense	probably damaging	1.00
R1649:Robo2	UTSW	16	73899001	missense	probably benign	0.36
R1709:Robo2	UTSW	16	73956523	missense	possibly damaging	0.83
R1761:Robo2	UTSW	16	74035024	missense	probably damaging	1.00
R1885:Robo2	UTSW	16	73916145	missense	probably benign	0.00
R1911:Robo2	UTSW	16	73958325	missense	probably damaging	1.00
R1919:Robo2	UTSW	16	73899154	missense	probably benign
R2005:Robo2	UTSW	16	73933115	missense	possibly damaging	0.82
R2851:Robo2	UTSW	16	73961888	missense	probably damaging	1.00
R3732:Robo2	UTSW	16	73920747	missense	possibly damaging	0.64
R3732:Robo2	UTSW	16	73920747	missense	possibly damaging	0.64
R3733:Robo2	UTSW	16	73920747	missense	possibly damaging	0.64
R3734:Robo2	UTSW	16	73920747	missense	possibly damaging	0.64
R3913:Robo2	UTSW	16	74035005	missense	probably damaging	1.00
R3956:Robo2	UTSW	16	73961867	missense	probably damaging	1.00
R4394:Robo2	UTSW	16	73948379	missense	probably benign	0.13
R4426:Robo2	UTSW	16	73948266	missense	probably damaging	1.00
R4437:Robo2	UTSW	16	73973244	missense	possibly damaging	0.88
R4454:Robo2	UTSW	16	74352519	intron	probably benign
R4478:Robo2	UTSW	16	74015873	missense	probably damaging	1.00
R4586:Robo2	UTSW	16	73961873	missense	probably damaging	0.96
R4621:Robo2	UTSW	16	73985933	missense	probably benign	0.00
R4673:Robo2	UTSW	16	73904378	splice site	probably null
R4798:Robo2	UTSW	16	74352745	missense	probably damaging	1.00
R4812:Robo2	UTSW	16	73916288	missense	probably benign	0.00
R4855:Robo2	UTSW	16	73971191	missense	probably damaging	1.00
R4910:Robo2	UTSW	16	73933778	missense	probably damaging	0.99
R4916:Robo2	UTSW	16	73898915	missense	possibly damaging	0.53
R4948:Robo2	UTSW	16	74352838	missense	possibly damaging	0.88
R5325:Robo2	UTSW	16	73973785	missense	possibly damaging	0.72
R5326:Robo2	UTSW	16	73898965	missense	probably benign	0.20
R5447:Robo2	UTSW	16	73973766	nonsense	probably null
R5542:Robo2	UTSW	16	73898965	missense	probably benign	0.20
R5545:Robo2	UTSW	16	73961747	missense	probably damaging	1.00
R5646:Robo2	UTSW	16	73961819	missense	probably damaging	0.99
R5734:Robo2	UTSW	16	74352784	missense	probably damaging	1.00
R5892:Robo2	UTSW	16	73895780	utr 3 prime	probably benign
R5960:Robo2	UTSW	16	73933715	missense	probably damaging	1.00
R6126:Robo2	UTSW	16	73920682	missense	probably benign	0.00
R6130:Robo2	UTSW	16	73920682	missense	probably benign	0.00
R6153:Robo2	UTSW	16	73920729	missense	probably damaging	1.00
R6240:Robo2	UTSW	16	73982139	missense	probably damaging	1.00
R6247:Robo2	UTSW	16	73967784	missense	probably damaging	1.00
R6304:Robo2	UTSW	16	73958308	missense	probably damaging	1.00
R6337:Robo2	UTSW	16	73928151	missense	probably benign	0.06
R6431:Robo2	UTSW	16	74046809	nonsense	probably null
R6440:Robo2	UTSW	16	73916122	missense	probably benign	0.31
R6596:Robo2	UTSW	16	73971108	missense	probably damaging	1.00
R6919:Robo2	UTSW	16	73961867	missense	probably damaging	1.00
R6927:Robo2	UTSW	16	73982058	missense	probably damaging	1.00
X0063:Robo2	UTSW	16	74045828	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-05-23