Mutagenetix > Incidental Mutation

Incidental Mutation 'R7897:Robo2'

609776

Institutional Source

Beutler Lab

Gene Symbol

Robo2

Ensembl Gene

ENSMUSG00000052516

Gene Name

roundabout guidance receptor 2

Synonyms

2600013A04Rik, 9430089E08Rik, D230004I22Rik

MMRRC Submission

045949-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7897 (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 C at 73695838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1431 (E1431G)

Ref Sequence

ENSEMBL: ENSMUSP00000112776 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117200

SMART Domains

Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516

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 benign
Transcript: ENSMUST00000117785
AA Change: E1431G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: E1431G

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 benign
Transcript: ENSMUST00000137420

Predicted Effect

probably benign
Transcript: ENSMUST00000226478
AA Change: E1435G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000231426

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231889
AA Change: E715G

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	TGTTGATCCATA	T	2: 69,154,216 (GRCm39)		probably null	Het
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Abcc10	T	C	17: 46,634,999 (GRCm39)	T335A	probably benign	Het
Actr3b	T	C	5: 26,036,657 (GRCm39)	Y245H	probably benign	Het
Afm	G	A	5: 90,695,727 (GRCm39)	M411I	probably benign	Het
Ahr	T	C	12: 35,554,169 (GRCm39)	N650S	possibly damaging	Het
Ap5m1	A	G	14: 49,311,232 (GRCm39)	R101G	probably benign	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,215,284 (GRCm39)	Q1151R		Het
Bcl9	A	G	3: 97,112,567 (GRCm39)	V1296A	possibly damaging	Het
Bsn	A	C	9: 107,989,065 (GRCm39)	M2229R	probably damaging	Het
Cfap74	T	C	4: 155,514,351 (GRCm39)	V529A		Het
Clip1	C	T	5: 123,760,861 (GRCm39)	V767M	probably benign	Het
Col6a5	A	G	9: 105,766,382 (GRCm39)	I1846T	possibly damaging	Het
Crisp1	A	T	17: 40,618,656 (GRCm39)	D68E	probably benign	Het
Csmd1	A	T	8: 17,584,935 (GRCm39)	L19Q	possibly damaging	Het
Cul7	T	C	17: 46,968,931 (GRCm39)	I892T	probably benign	Het
Efcab3	A	T	11: 104,889,061 (GRCm39)	Y4159F	probably benign	Het
Elavl3	G	A	9: 21,929,846 (GRCm39)	R353C	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fbxo3	A	G	2: 103,883,757 (GRCm39)	D327G	possibly damaging	Het
Galr1	T	C	18: 82,424,256 (GRCm39)	N7S	probably benign	Het
Glyatl3	T	C	17: 41,215,802 (GRCm39)	T235A	probably damaging	Het
Gm5145	A	C	17: 20,790,967 (GRCm39)	Q115P	probably benign	Het
Grm5	T	C	7: 87,780,069 (GRCm39)	S1202P	probably benign	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Jmjd1c	A	G	10: 67,075,644 (GRCm39)	N1837S	probably damaging	Het
Jph3	A	T	8: 122,516,136 (GRCm39)		probably null	Het
Kcna6	A	G	6: 126,715,761 (GRCm39)	L376P	probably damaging	Het
Kcne3	C	G	7: 99,833,520 (GRCm39)	R46G	probably benign	Het
Kcnq2	T	C	2: 180,722,934 (GRCm39)	D842G	probably damaging	Het
Klhl12	A	T	1: 134,386,219 (GRCm39)	I4F	probably benign	Het
Kpna1	T	A	16: 35,854,235 (GRCm39)	I525N	probably benign	Het
Krtap31-1	T	C	11: 99,798,949 (GRCm39)	C51R	possibly damaging	Het
Ms4a12	C	T	19: 11,207,723 (GRCm39)	G61D	possibly damaging	Het
Nol4	T	C	18: 22,956,400 (GRCm39)	N115D		Het
Nudt16l2	A	C	9: 105,021,709 (GRCm39)	Y112*	probably null	Het
Pcdh15	A	G	10: 74,289,827 (GRCm39)	Y882C	probably damaging	Het
Pde8b	T	A	13: 95,244,202 (GRCm39)	H79L	probably benign	Het
Pdia2	T	C	17: 26,417,207 (GRCm39)	E79G	probably benign	Het
Pgap1	A	T	1: 54,590,167 (GRCm39)	F90L	probably damaging	Het
Pik3cd	T	A	4: 149,741,726 (GRCm39)	T407S	probably benign	Het
Pkd1l2	G	T	8: 117,724,827 (GRCm39)	F2361L	possibly damaging	Het
Pla2g12b	A	T	10: 59,246,816 (GRCm39)	R77*	probably null	Het
Ppfia2	A	G	10: 106,655,399 (GRCm39)	Y322C	probably damaging	Het
Psg23	T	C	7: 18,341,108 (GRCm39)	Q382R	possibly damaging	Het
Ptprq	A	G	10: 107,546,484 (GRCm39)	V270A	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Sdk2	A	G	11: 113,764,027 (GRCm39)	I253T	possibly damaging	Het
Sox9	A	C	11: 112,675,635 (GRCm39)	I275L	probably benign	Het
Tlr4	A	G	4: 66,758,058 (GRCm39)	I284V	probably benign	Het
Unc13b	A	G	4: 43,171,860 (GRCm39)	D896G	unknown	Het
Usp48	A	T	4: 137,371,739 (GRCm39)	H955L	probably damaging	Het
Vps54	T	C	11: 21,213,307 (GRCm39)	I30T	probably benign	Het
Zfp106	G	A	2: 120,366,096 (GRCm39)	R59*	probably null	Het
Zmym4	A	T	4: 126,783,332 (GRCm39)	D1169E	possibly damaging	Het
Zscan2	T	A	7: 80,525,448 (GRCm39)	Y390N	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
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'- CACTGACTGTGTGCCGTTAAG -3'
(R):5'- CAGGTCAGGGTTTAAGGCAG -3'

Sequencing Primer
(F):5'- ACTGTGTGCCGTTAAGCTTTTGAAC -3'
(R):5'- CAGCAGATAGGCCTGAGC -3'

Posted On

2019-12-20