Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Robo2'

487421

Institutional Source

Beutler Lab

Gene Symbol

Robo2

Ensembl Gene

ENSMUSG00000052516

Gene Name

roundabout guidance receptor 2

Synonyms

9430089E08Rik, 2600013A04Rik, D230004I22Rik

MMRRC Submission

044273-MU

Accession Numbers

Ncbi RefSeq: NM_175549.4; MGI:1890110

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73891839-74411825 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73920682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 100 (G100S)

Ref Sequence

ENSEMBL: ENSMUSP00000156330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117200] [ENSMUST00000117785] [ENSMUST00000138852] [ENSMUST00000226478]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000116586
AA Change: G157S

SMART Domains

Protein: ENSMUSP00000112285
Gene: ENSMUSG00000052516
AA Change: G157S

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 benign
Transcript: ENSMUST00000117200
AA Change: G1135S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113795
Gene: ENSMUSG00000052516
AA Change: G1135S

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: G1177S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112776
Gene: ENSMUSG00000052516
AA Change: G1177S

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: ENSMUST00000138852
AA Change: G100S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000226478
AA Change: G1181S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000231426

Predicted Effect

unknown
Transcript: ENSMUST00000231889
AA Change: G461S

Meta Mutation Damage Score

0.1188

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574 (GRCm38)	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042 (GRCm38)	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373 (GRCm38)	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326 (GRCm38)	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309 (GRCm38)	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482 (GRCm38)	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921 (GRCm38)	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dst	T	A	1: 34,228,183 (GRCm38)	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425 (GRCm38)		probably null	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570 (GRCm38)	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722 (GRCm38)	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447 (GRCm38)	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505 (GRCm38)	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983 (GRCm38)	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313 (GRCm38)	R72H	unknown	Het
Gm906	G	T	13: 50,246,290 (GRCm38)	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917 (GRCm38)	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708 (GRCm38)	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374 (GRCm38)	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899 (GRCm38)	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876 (GRCm38)	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011 (GRCm38)		probably null	Het
Mnx1	G	T	5: 29,478,112 (GRCm38)	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232 (GRCm38)	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887 (GRCm38)		probably null	Het
Olfr530	T	G	7: 140,373,253 (GRCm38)	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457 (GRCm38)		probably benign	Het
Panx1	T	A	9: 15,007,790 (GRCm38)	I258F	probably benign	Het
Pask	T	C	1: 93,314,359 (GRCm38)	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529 (GRCm38)	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824 (GRCm38)	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377 (GRCm38)	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708 (GRCm38)	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214 (GRCm38)	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276 (GRCm38)	D1188V	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Ryr1	A	C	7: 29,076,239 (GRCm38)	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670 (GRCm38)	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804 (GRCm38)	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044 (GRCm38)	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265 (GRCm38)	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285 (GRCm38)	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344 (GRCm38)		probably benign	Het
Tex15	A	G	8: 33,573,563 (GRCm38)	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660 (GRCm38)	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102 (GRCm38)	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348 (GRCm38)		probably benign	Het
Zfp292	T	C	4: 34,808,497 (GRCm38)	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573 (GRCm38)	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het

Other mutations in Robo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Robo2	APN	16	73,961,700 (GRCm38)	missense	probably benign
IGL00849:Robo2	APN	16	73,973,777 (GRCm38)	missense	possibly damaging	0.80
IGL00908:Robo2	APN	16	73,985,691 (GRCm38)	missense	probably damaging	0.98
IGL00944:Robo2	APN	16	73,933,697 (GRCm38)	missense	possibly damaging	0.92
IGL00955:Robo2	APN	16	74,015,972 (GRCm38)	missense	probably damaging	1.00
IGL00970:Robo2	APN	16	73,897,046 (GRCm38)	missense	probably benign	0.00
IGL01020:Robo2	APN	16	73,928,151 (GRCm38)	missense	probably benign	0.06
IGL01347:Robo2	APN	16	74,352,856 (GRCm38)	missense	probably damaging	1.00
IGL02280:Robo2	APN	16	74,046,816 (GRCm38)	missense	probably damaging	1.00
IGL02424:Robo2	APN	16	73,973,301 (GRCm38)	missense	possibly damaging	0.89
IGL03376:Robo2	APN	16	73,956,492 (GRCm38)	missense	probably damaging	1.00
LCD18:Robo2	UTSW	16	74,055,954 (GRCm38)	intron	probably benign
P0018:Robo2	UTSW	16	74,046,806 (GRCm38)	missense	possibly damaging	0.82
R0314:Robo2	UTSW	16	73,956,637 (GRCm38)	missense	probably damaging	1.00
R0324:Robo2	UTSW	16	73,967,851 (GRCm38)	missense	probably damaging	1.00
R0539:Robo2	UTSW	16	73,985,574 (GRCm38)	splice site	probably benign
R0620:Robo2	UTSW	16	73,967,802 (GRCm38)	missense	possibly damaging	0.92
R0630:Robo2	UTSW	16	73,916,205 (GRCm38)	missense	probably benign	0.05
R0701:Robo2	UTSW	16	74,046,874 (GRCm38)	missense	probably damaging	1.00
R1155:Robo2	UTSW	16	74,035,108 (GRCm38)	missense	probably damaging	1.00
R1168:Robo2	UTSW	16	73,948,296 (GRCm38)	missense	probably damaging	1.00
R1195:Robo2	UTSW	16	73,916,128 (GRCm38)	splice site	probably null
R1195:Robo2	UTSW	16	73,916,128 (GRCm38)	splice site	probably null
R1195:Robo2	UTSW	16	73,916,128 (GRCm38)	splice site	probably null
R1317:Robo2	UTSW	16	74,035,024 (GRCm38)	missense	probably damaging	1.00
R1422:Robo2	UTSW	16	73,978,448 (GRCm38)	missense	probably damaging	0.99
R1452:Robo2	UTSW	16	73,961,910 (GRCm38)	missense	probably damaging	1.00
R1649:Robo2	UTSW	16	73,899,001 (GRCm38)	missense	probably benign	0.36
R1709:Robo2	UTSW	16	73,956,523 (GRCm38)	missense	possibly damaging	0.83
R1751:Robo2	UTSW	16	74,035,024 (GRCm38)	missense	probably damaging	1.00
R1761:Robo2	UTSW	16	74,035,024 (GRCm38)	missense	probably damaging	1.00
R1885:Robo2	UTSW	16	73,916,145 (GRCm38)	missense	probably benign	0.00
R1911:Robo2	UTSW	16	73,958,325 (GRCm38)	missense	probably damaging	1.00
R1919:Robo2	UTSW	16	73,899,154 (GRCm38)	missense	probably benign
R2005:Robo2	UTSW	16	73,933,115 (GRCm38)	missense	possibly damaging	0.82
R2851:Robo2	UTSW	16	73,961,888 (GRCm38)	missense	probably damaging	1.00
R3732:Robo2	UTSW	16	73,920,747 (GRCm38)	missense	possibly damaging	0.64
R3732:Robo2	UTSW	16	73,920,747 (GRCm38)	missense	possibly damaging	0.64
R3733:Robo2	UTSW	16	73,920,747 (GRCm38)	missense	possibly damaging	0.64
R3734:Robo2	UTSW	16	73,920,747 (GRCm38)	missense	possibly damaging	0.64
R3913:Robo2	UTSW	16	74,035,005 (GRCm38)	missense	probably damaging	1.00
R3956:Robo2	UTSW	16	73,961,867 (GRCm38)	missense	probably damaging	1.00
R4394:Robo2	UTSW	16	73,948,379 (GRCm38)	missense	probably benign	0.13
R4426:Robo2	UTSW	16	73,948,266 (GRCm38)	missense	probably damaging	1.00
R4437:Robo2	UTSW	16	73,973,244 (GRCm38)	missense	possibly damaging	0.88
R4454:Robo2	UTSW	16	74,352,519 (GRCm38)	intron	probably benign
R4478:Robo2	UTSW	16	74,015,873 (GRCm38)	missense	probably damaging	1.00
R4586:Robo2	UTSW	16	73,961,873 (GRCm38)	missense	probably damaging	0.96
R4621:Robo2	UTSW	16	73,985,933 (GRCm38)	missense	probably benign	0.00
R4673:Robo2	UTSW	16	73,904,378 (GRCm38)	splice site	probably null
R4798:Robo2	UTSW	16	74,352,745 (GRCm38)	missense	probably damaging	1.00
R4812:Robo2	UTSW	16	73,916,288 (GRCm38)	missense	probably benign	0.00
R4855:Robo2	UTSW	16	73,971,191 (GRCm38)	missense	probably damaging	1.00
R4910:Robo2	UTSW	16	73,933,778 (GRCm38)	missense	probably damaging	0.99
R4916:Robo2	UTSW	16	73,898,915 (GRCm38)	missense	possibly damaging	0.53
R4948:Robo2	UTSW	16	74,352,838 (GRCm38)	missense	possibly damaging	0.88
R5325:Robo2	UTSW	16	73,973,785 (GRCm38)	missense	possibly damaging	0.72
R5326:Robo2	UTSW	16	73,898,965 (GRCm38)	missense	probably benign	0.20
R5447:Robo2	UTSW	16	73,973,766 (GRCm38)	nonsense	probably null
R5542:Robo2	UTSW	16	73,898,965 (GRCm38)	missense	probably benign	0.20
R5545:Robo2	UTSW	16	73,961,747 (GRCm38)	missense	probably damaging	1.00
R5646:Robo2	UTSW	16	73,961,819 (GRCm38)	missense	probably damaging	0.99
R5734:Robo2	UTSW	16	74,352,784 (GRCm38)	missense	probably damaging	1.00
R5892:Robo2	UTSW	16	73,895,780 (GRCm38)	utr 3 prime	probably benign
R5960:Robo2	UTSW	16	73,933,715 (GRCm38)	missense	probably damaging	1.00
R6130:Robo2	UTSW	16	73,920,682 (GRCm38)	missense	probably benign	0.00
R6153:Robo2	UTSW	16	73,920,729 (GRCm38)	missense	probably damaging	1.00
R6240:Robo2	UTSW	16	73,982,139 (GRCm38)	missense	probably damaging	1.00
R6247:Robo2	UTSW	16	73,967,784 (GRCm38)	missense	probably damaging	1.00
R6304:Robo2	UTSW	16	73,958,308 (GRCm38)	missense	probably damaging	1.00
R6337:Robo2	UTSW	16	73,928,151 (GRCm38)	missense	probably benign	0.06
R6431:Robo2	UTSW	16	74,046,809 (GRCm38)	nonsense	probably null
R6440:Robo2	UTSW	16	73,916,122 (GRCm38)	missense	probably benign	0.31
R6596:Robo2	UTSW	16	73,971,108 (GRCm38)	missense	probably damaging	1.00
R6919:Robo2	UTSW	16	73,961,867 (GRCm38)	missense	probably damaging	1.00
R6927:Robo2	UTSW	16	73,982,058 (GRCm38)	missense	probably damaging	1.00
R7029:Robo2	UTSW	16	73,948,337 (GRCm38)	missense	probably damaging	1.00
R7078:Robo2	UTSW	16	74,352,616 (GRCm38)	missense	probably damaging	1.00
R7092:Robo2	UTSW	16	73,956,643 (GRCm38)	missense	probably damaging	0.99
R7136:Robo2	UTSW	16	73,956,550 (GRCm38)	missense	probably damaging	0.99
R7192:Robo2	UTSW	16	73,920,750 (GRCm38)	missense	probably benign	0.19
R7569:Robo2	UTSW	16	74,035,115 (GRCm38)	missense	possibly damaging	0.82
R7686:Robo2	UTSW	16	73,958,405 (GRCm38)	missense	probably damaging	1.00
R7720:Robo2	UTSW	16	73,897,015 (GRCm38)	missense	probably benign	0.00
R7772:Robo2	UTSW	16	73,961,889 (GRCm38)	missense	probably benign	0.24
R7822:Robo2	UTSW	16	73,973,171 (GRCm38)	missense	probably damaging	1.00
R7849:Robo2	UTSW	16	73,973,244 (GRCm38)	missense	possibly damaging	0.88
R7881:Robo2	UTSW	16	73,920,697 (GRCm38)	missense	probably benign	0.00
R7897:Robo2	UTSW	16	73,898,950 (GRCm38)	missense	probably benign
R8135:Robo2	UTSW	16	73,933,160 (GRCm38)	missense	probably benign	0.04
R8297:Robo2	UTSW	16	74,015,926 (GRCm38)	nonsense	probably null
R8307:Robo2	UTSW	16	73,956,610 (GRCm38)	missense	probably damaging	1.00
R8379:Robo2	UTSW	16	73,933,700 (GRCm38)	missense	probably damaging	0.99
R8393:Robo2	UTSW	16	73,978,494 (GRCm38)	missense	probably damaging	1.00
R8474:Robo2	UTSW	16	73,948,262 (GRCm38)	missense	probably damaging	1.00
R8500:Robo2	UTSW	16	73,948,340 (GRCm38)	missense	probably damaging	1.00
R8721:Robo2	UTSW	16	73,906,910 (GRCm38)	missense
R8734:Robo2	UTSW	16	73,967,763 (GRCm38)	splice site	probably benign
R8735:Robo2	UTSW	16	73,958,359 (GRCm38)	missense	probably damaging	1.00
R8840:Robo2	UTSW	16	73,985,682 (GRCm38)	missense	probably damaging	1.00
R8937:Robo2	UTSW	16	73,973,262 (GRCm38)	missense	probably damaging	1.00
R8937:Robo2	UTSW	16	73,973,261 (GRCm38)	missense	probably damaging	1.00
R8968:Robo2	UTSW	16	73,971,053 (GRCm38)	critical splice donor site	probably null
R9134:Robo2	UTSW	16	73,906,850 (GRCm38)	missense
R9622:Robo2	UTSW	16	73,933,064 (GRCm38)	missense	probably benign	0.02
R9662:Robo2	UTSW	16	73,961,678 (GRCm38)	critical splice donor site	probably null
R9708:Robo2	UTSW	16	73,973,309 (GRCm38)	missense	possibly damaging	0.70
R9779:Robo2	UTSW	16	73,971,077 (GRCm38)	missense	probably damaging	0.97
X0063:Robo2	UTSW	16	74,045,828 (GRCm38)	missense	probably damaging	1.00
Z1176:Robo2	UTSW	16	73,933,591 (GRCm38)	missense	probably benign	0.35
Z1177:Robo2	UTSW	16	73,940,299 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGGGCCATTGGTTTATGG -3'
(R):5'- ACAAACTGAGGAACCTTTTACGAAC -3'

Sequencing Primer
(F):5'- CCATTGGTTTATGGAGGATATTTACC -3'
(R):5'- CTGAGGAACCTTTTACGAACACTTG -3'

Posted On

2017-10-10