Mutagenetix > Incidental Mutation

Incidental Mutation 'R6596:Robo2'

526017

Institutional Source

Beutler Lab

Gene Symbol

Robo2

Ensembl Gene

ENSMUSG00000052516

Gene Name

roundabout guidance receptor 2

Synonyms

2600013A04Rik, 9430089E08Rik, D230004I22Rik

MMRRC Submission

044720-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R6596 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73688727-74208713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73767996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 603 (N603Y)

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 damaging
Transcript: ENSMUST00000116586
AA Change: N603Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112285
Gene: ENSMUSG00000052516
AA Change: N603Y

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: N599Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516
AA Change: N599Y

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 damaging
Transcript: ENSMUST00000117785
AA Change: N599Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: N599Y

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: N603Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227347
AA Change: N603Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	A	9: 101,819,984 (GRCm39)	C135S	possibly damaging	Het
Bag4	C	T	8: 26,259,528 (GRCm39)	D224N	probably damaging	Het
Cldn15	T	A	5: 137,003,533 (GRCm39)	C178*	probably null	Het
Col7a1	C	A	9: 108,783,409 (GRCm39)		probably benign	Het
Crnn	G	A	3: 93,054,182 (GRCm39)	E22K	probably damaging	Het
Dcstamp	A	C	15: 39,617,605 (GRCm39)	T5P	possibly damaging	Het
Dennd4a	A	G	9: 64,759,702 (GRCm39)	Y269C	probably damaging	Het
Dsg1c	T	A	18: 20,403,581 (GRCm39)		probably null	Het
Duox2	C	T	2: 122,115,819 (GRCm39)	V972I	probably benign	Het
Eif1ad15	C	A	12: 88,288,057 (GRCm39)	L65F	possibly damaging	Het
Ephb1	A	C	9: 102,072,001 (GRCm39)	Y259*	probably null	Het
Fam149a	G	T	8: 45,834,667 (GRCm39)	T44K	probably benign	Het
Fn1	A	G	1: 71,648,641 (GRCm39)	Y1423H	probably damaging	Het
Garem1	T	A	18: 21,281,796 (GRCm39)	I187F	probably damaging	Het
Gfm2	C	T	13: 97,301,657 (GRCm39)	P487S	probably damaging	Het
Hyou1	A	G	9: 44,299,052 (GRCm39)	E625G	probably benign	Het
Kmt5a	G	A	5: 124,588,759 (GRCm39)	V121M	probably benign	Het
Mindy4	T	C	6: 55,201,001 (GRCm39)	S229P	probably damaging	Het
Muc16	T	C	9: 18,478,011 (GRCm39)	D7098G	probably benign	Het
Nsf	A	T	11: 103,801,283 (GRCm39)	I244N	probably damaging	Het
Obox1	C	T	7: 15,289,301 (GRCm39)	S72L	probably damaging	Het
Or4b1	T	A	2: 89,979,622 (GRCm39)	T243S	possibly damaging	Het
Or5d38	C	T	2: 87,954,543 (GRCm39)	C262Y	probably damaging	Het
Pcdhb7	A	T	18: 37,476,414 (GRCm39)	I517F	probably damaging	Het
Plk2	C	T	13: 110,534,296 (GRCm39)	A292V	probably benign	Het
Pomgnt2	T	C	9: 121,811,320 (GRCm39)	E487G	possibly damaging	Het
Rasgrf1	A	T	9: 89,894,847 (GRCm39)	N1089I	possibly damaging	Het
Slc35f4	G	A	14: 49,763,057 (GRCm39)	A5V	probably damaging	Het
Smc4	A	T	3: 68,933,226 (GRCm39)	I616F	probably damaging	Het
Sorl1	T	G	9: 41,912,899 (GRCm39)	N1361H	possibly damaging	Het
Syngr1	C	T	15: 79,995,893 (GRCm39)	T144M	probably damaging	Het
Tbc1d16	A	C	11: 119,048,601 (GRCm39)	W351G	probably damaging	Het
Tbx15	A	G	3: 99,259,508 (GRCm39)	S460G	probably benign	Het
Tns2	G	A	15: 102,018,994 (GRCm39)	R395Q	probably benign	Het
Tpte	T	C	8: 22,823,285 (GRCm39)	L304P	probably damaging	Het
Tubgcp5	T	A	7: 55,456,382 (GRCm39)	F325I	probably benign	Het
Ucp3	A	T	7: 100,131,140 (GRCm39)	I198F	probably benign	Het
Vit	T	C	17: 78,930,274 (GRCm39)	V413A	probably benign	Het
Xrcc6	T	C	15: 81,907,155 (GRCm39)	M1T	probably null	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
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
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'- TAGCAAGGCAGTCTGAAAACC -3'
(R):5'- TGACCCTTGTCATTGACACTCAAC -3'

Sequencing Primer
(F):5'- GCAAGGCAGTCTGAAAACCTTTTC -3'
(R):5'- GTCATTGACACTCAACACCATTTG -3'

Posted On

2018-06-22