Mutagenetix > Incidental Mutation

Incidental Mutation 'R8393:Robo2'

647500

Institutional Source

Beutler Lab

Gene Symbol

Robo2

Ensembl Gene

ENSMUSG00000052516

Gene Name

roundabout guidance receptor 2

Synonyms

2600013A04Rik, 9430089E08Rik, D230004I22Rik

MMRRC Submission

067811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73688727-74208713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73775382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 451 (W451R)

Ref Sequence

ENSEMBL: ENSMUSP00000112776 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117200
AA Change: W451R

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

SMART Domains

Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516
AA Change: W451R

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: W451R

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

SMART Domains

Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: W451R

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: W455R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227347
AA Change: W455R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,617,390 (GRCm39)	T239A	probably benign	Het
Adgrg7	A	G	16: 56,582,477 (GRCm39)	S258P	probably damaging	Het
Capn10	T	A	1: 92,871,130 (GRCm39)	D313E	probably benign	Het
Caprin2	A	G	6: 148,770,650 (GRCm39)	V448A	probably benign	Het
Casr	A	G	16: 36,330,566 (GRCm39)	V256A	probably benign	Het
Cped1	A	G	6: 22,222,465 (GRCm39)	T742A	possibly damaging	Het
Cyp2c39	G	T	19: 39,525,255 (GRCm39)	R186L	possibly damaging	Het
Dazl	A	T	17: 50,588,294 (GRCm39)	S294T	probably benign	Het
Dnah17	C	A	11: 117,947,855 (GRCm39)	V2982F	probably damaging	Het
Enpp3	C	A	10: 24,702,139 (GRCm39)	C71F	probably damaging	Het
Fam234a	A	G	17: 26,437,149 (GRCm39)	C177R	probably damaging	Het
Fbxl5	A	C	5: 43,925,433 (GRCm39)	Y186D	possibly damaging	Het
Fbxo43	T	C	15: 36,162,494 (GRCm39)	T238A	probably benign	Het
Fcgbp	A	G	7: 27,806,815 (GRCm39)	H2261R	probably benign	Het
Gm20939	C	T	17: 95,183,207 (GRCm39)	H148Y	probably damaging	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Gpr45	C	A	1: 43,071,395 (GRCm39)	H13N	probably benign	Het
Irf4	A	G	13: 30,947,610 (GRCm39)	D438G	probably damaging	Het
Kcnk1	T	C	8: 126,751,964 (GRCm39)	V190A	probably benign	Het
Klre1	A	T	6: 129,557,025 (GRCm39)	K42N	probably damaging	Het
Lmbrd2	C	T	15: 9,178,437 (GRCm39)	T499M	probably damaging	Het
Lrrc14	G	T	15: 76,598,398 (GRCm39)	G345C	probably damaging	Het
Matn2	A	G	15: 34,355,748 (GRCm39)	H251R	possibly damaging	Het
Mpnd	A	G	17: 56,323,568 (GRCm39)	E477G	probably damaging	Het
Muc17	C	T	5: 137,171,179 (GRCm39)	V151I		Het
Nckap5l	A	C	15: 99,325,050 (GRCm39)	C484W	probably damaging	Het
Npas1	C	T	7: 16,195,266 (GRCm39)	S354N	probably damaging	Het
Or1e25	T	C	11: 73,494,261 (GRCm39)	L285P	probably damaging	Het
Or4k2	C	A	14: 50,424,342 (GRCm39)	E112*	probably null	Het
Or52ab2	A	T	7: 102,969,668 (GRCm39)	I17F		Het
Or52e3	T	C	7: 102,869,399 (GRCm39)	V158A	probably benign	Het
Or5w11	T	C	2: 87,459,197 (GRCm39)	L14P	probably damaging	Het
Or6c65	G	T	10: 129,604,304 (GRCm39)	*313L	probably null	Het
Or8d4	T	A	9: 40,038,360 (GRCm39)	H299L	probably benign	Het
Pabpc6	G	A	17: 9,887,435 (GRCm39)	P372L	probably damaging	Het
Pkd1	A	G	17: 24,791,621 (GRCm39)	N1103D	probably damaging	Het
Prelid2	C	T	18: 42,014,313 (GRCm39)	C171Y	probably benign	Het
R3hcc1	T	C	14: 69,942,890 (GRCm39)	Q229R	probably benign	Het
Rapgef6	T	C	11: 54,578,487 (GRCm39)	V1003A	probably benign	Het
Rbp3	T	A	14: 33,678,156 (GRCm39)	H701Q	possibly damaging	Het
Resf1	A	T	6: 149,229,998 (GRCm39)	T1015S	possibly damaging	Het
Rmdn2	T	C	17: 79,975,459 (GRCm39)		probably null	Het
Sacs	T	A	14: 61,410,655 (GRCm39)	M1K	probably null	Het
Senp2	G	A	16: 21,850,864 (GRCm39)	G294R	probably damaging	Het
Setdb2	T	A	14: 59,650,180 (GRCm39)	H478L	probably benign	Het
Slc12a4	G	T	8: 106,678,451 (GRCm39)	A295E	probably damaging	Het
Slc12a9	C	T	5: 137,319,698 (GRCm39)	V606M	probably damaging	Het
Slc25a30	T	C	14: 76,012,451 (GRCm39)	K66E	probably benign	Het
Slc39a6	T	C	18: 24,732,331 (GRCm39)	E319G	possibly damaging	Het
Sorbs3	T	A	14: 70,422,360 (GRCm39)	T617S	probably benign	Het
Speer4a3	A	T	5: 26,158,076 (GRCm39)	V92E	probably damaging	Het
Spef2	T	G	15: 9,676,615 (GRCm39)	D652A	probably benign	Het
Stag3	T	C	5: 138,295,017 (GRCm39)	M347T	probably damaging	Het
Tecpr2	A	T	12: 110,911,191 (GRCm39)	D1076V	probably damaging	Het
Tor2a	G	A	2: 32,651,648 (GRCm39)	V288I	probably benign	Het
Usp30	C	T	5: 114,259,826 (GRCm39)	R511*	probably null	Het
Vezt	T	C	10: 93,832,704 (GRCm39)	T236A	probably damaging	Het
Zmynd12	A	T	4: 119,305,352 (GRCm39)	D264V	probably 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
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
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'- CTTTCATACAATGCTGATGTCAGAC -3'
(R):5'- GAGTGCAGCATAGGTAGGTTTAATG -3'

Sequencing Primer
(F):5'- ACTACGTACCCGTAAATTCT -3'
(R):5'- CACCCATAATCTTGCAAGGA -3'

Posted On

2020-09-02