Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Robo1'

46969

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72308306-73046095 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 73013125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023600]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023600

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883

Domain	Start	End	E-Value	Type
IGc2	41	115	3.15e-10	SMART
IGc2	143	208	2.52e-9	SMART
IGc2	235	298	3.85e-14	SMART
IGv	328	391	3.71e-7	SMART
IGc2	428	493	2.46e-12	SMART
FN3	522	604	3.17e-13	SMART
FN3	634	721	1.66e0	SMART
FN3	736	822	4.28e-10	SMART
low complexity region	1108	1125	N/A	INTRINSIC
low complexity region	1148	1157	N/A	INTRINSIC
low complexity region	1186	1197	N/A	INTRINSIC
low complexity region	1249	1269	N/A	INTRINSIC
low complexity region	1282	1298	N/A	INTRINSIC
low complexity region	1345	1357	N/A	INTRINSIC
low complexity region	1362	1380	N/A	INTRINSIC
low complexity region	1442	1449	N/A	INTRINSIC
low complexity region	1563	1576	N/A	INTRINSIC
low complexity region	1602	1611	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000232205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232432

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,936,350 (GRCm38)	H155R	possibly damaging	Het
Abca13	G	T	11: 9,294,559 (GRCm38)	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458 (GRCm38)		probably benign	Het
Adam3	A	T	8: 24,695,315 (GRCm38)	C456S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571 (GRCm38)		probably benign	Het
Anapc4	A	G	5: 52,842,017 (GRCm38)		probably benign	Het
Ank3	A	T	10: 69,882,368 (GRCm38)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059 (GRCm38)		probably benign	Het
Ankrd13b	T	A	11: 77,473,288 (GRCm38)	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055 (GRCm38)	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417 (GRCm38)		probably null	Het
Atg2a	T	C	19: 6,252,539 (GRCm38)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153 (GRCm38)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218 (GRCm38)		probably benign	Het
Bbof1	T	A	12: 84,430,271 (GRCm38)	S512T	probably benign	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582 (GRCm38)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296 (GRCm38)	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927 (GRCm38)	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176 (GRCm38)	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019 (GRCm38)	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191 (GRCm38)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104 (GRCm38)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185 (GRCm38)	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333 (GRCm38)		probably null	Het
Csmd1	C	T	8: 15,932,529 (GRCm38)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405 (GRCm38)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038 (GRCm38)		probably benign	Het
Dach1	A	T	14: 97,901,329 (GRCm38)	H559Q	possibly damaging	Het
Dele1	T	C	18: 38,254,071 (GRCm38)		probably null	Het
Dennd4c	C	T	4: 86,826,022 (GRCm38)	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028 (GRCm38)	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841 (GRCm38)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467 (GRCm38)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126 (GRCm38)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485 (GRCm38)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm38)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222 (GRCm38)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980 (GRCm38)		probably benign	Het
Fam184a	G	T	10: 53,698,879 (GRCm38)	H155Q	probably benign	Het
Firrm	T	C	1: 163,971,843 (GRCm38)		probably null	Het
Ganc	G	T	2: 120,448,401 (GRCm38)	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945 (GRCm38)		probably benign	Het
Gm9047	G	T	6: 29,478,170 (GRCm38)		probably benign	Het
Haus5	A	T	7: 30,659,067 (GRCm38)	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143 (GRCm38)		probably null	Het
Hr	T	A	14: 70,561,912 (GRCm38)	C641*	probably null	Het
Itga10	A	G	3: 96,658,174 (GRCm38)	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435 (GRCm38)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723 (GRCm38)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447 (GRCm38)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607 (GRCm38)		probably benign	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677 (GRCm38)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785 (GRCm38)	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267 (GRCm38)	T299A	probably benign	Het
Med25	A	G	7: 44,885,078 (GRCm38)		probably null	Het
Mpg	A	T	11: 32,230,039 (GRCm38)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918 (GRCm38)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507 (GRCm38)	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317 (GRCm38)	D842E	probably benign	Het
Myorg	A	G	4: 41,498,538 (GRCm38)	F364S	probably damaging	Het
Nat2	C	T	8: 67,501,330 (GRCm38)	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769 (GRCm38)	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359 (GRCm38)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm38)	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716 (GRCm38)	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005 (GRCm38)	C831Y	probably damaging	Het
Or52r1c	T	C	7: 103,085,851 (GRCm38)	I111T	probably damaging	Het
Or5t9	A	G	2: 86,829,606 (GRCm38)	I285V	probably benign	Het
P2ry14	A	G	3: 59,116,028 (GRCm38)	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715 (GRCm38)		probably benign	Het
Pate14	A	T	9: 36,638,577 (GRCm38)		probably null	Het
Pclo	A	G	5: 14,678,285 (GRCm38)		probably benign	Het
Pclo	T	C	5: 14,679,398 (GRCm38)		probably benign	Het
Pcnt	A	T	10: 76,404,595 (GRCm38)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757 (GRCm38)	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555 (GRCm38)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235 (GRCm38)	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832 (GRCm38)	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282 (GRCm38)	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216 (GRCm38)		probably benign	Het
Ptbp2	T	G	3: 119,720,964 (GRCm38)	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069 (GRCm38)		probably benign	Het
Rbm6	G	A	9: 107,847,289 (GRCm38)	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783 (GRCm38)	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383 (GRCm38)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Samd12	G	A	15: 53,860,171 (GRCm38)	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700 (GRCm38)	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240 (GRCm38)	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570 (GRCm38)	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362 (GRCm38)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462 (GRCm38)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895 (GRCm38)	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545 (GRCm38)	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slc4a10	G	A	2: 62,286,862 (GRCm38)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860 (GRCm38)		probably benign	Het
Smg6	T	A	11: 74,929,058 (GRCm38)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587 (GRCm38)	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984 (GRCm38)		probably null	Het
Sugp1	A	G	8: 70,059,363 (GRCm38)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579 (GRCm38)	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620 (GRCm38)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873 (GRCm38)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245 (GRCm38)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803 (GRCm38)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718 (GRCm38)	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120 (GRCm38)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715 (GRCm38)	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750 (GRCm38)	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440 (GRCm38)		probably benign	Het
Vmn2r55	C	T	7: 12,671,018 (GRCm38)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549 (GRCm38)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936 (GRCm38)	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522 (GRCm38)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660 (GRCm38)	I1023T	possibly damaging	Het

Other mutations in Robo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01766:Robo1	APN	16	73,004,665 (GRCm38)	missense	probably benign	0.00
IGL01937:Robo1	APN	16	72,962,226 (GRCm38)	missense	probably damaging	1.00
IGL01945:Robo1	APN	16	72,962,226 (GRCm38)	missense	probably damaging	1.00
IGL02151:Robo1	APN	16	72,989,616 (GRCm38)	missense	probably benign	0.00
IGL02232:Robo1	APN	16	72,971,984 (GRCm38)	missense	possibly damaging	0.59
IGL02282:Robo1	APN	16	72,742,138 (GRCm38)	missense	probably damaging	1.00
IGL02590:Robo1	APN	16	73,043,132 (GRCm38)	missense	probably benign	0.06
IGL02874:Robo1	APN	16	73,012,918 (GRCm38)	missense	probably damaging	0.96
IGL02974:Robo1	APN	16	73,006,862 (GRCm38)	missense	probably benign	0.09
IGL03233:Robo1	APN	16	72,970,193 (GRCm38)	missense	probably damaging	0.99
PIT4378001:Robo1	UTSW	16	73,004,535 (GRCm38)	missense	probably damaging	1.00
R0079:Robo1	UTSW	16	72,933,342 (GRCm38)	splice site	probably benign
R0254:Robo1	UTSW	16	72,664,170 (GRCm38)	missense	probably benign	0.00
R0366:Robo1	UTSW	16	72,742,245 (GRCm38)	missense	possibly damaging	0.52
R0410:Robo1	UTSW	16	72,971,984 (GRCm38)	missense	possibly damaging	0.59
R0563:Robo1	UTSW	16	72,972,286 (GRCm38)	missense	probably benign	0.01
R0637:Robo1	UTSW	16	73,001,951 (GRCm38)	missense	probably benign	0.29
R1239:Robo1	UTSW	16	73,024,542 (GRCm38)	splice site	probably null
R1773:Robo1	UTSW	16	73,004,511 (GRCm38)	missense	probably benign	0.00
R1777:Robo1	UTSW	16	73,004,667 (GRCm38)	missense	probably benign
R1901:Robo1	UTSW	16	72,960,204 (GRCm38)	missense	probably null	1.00
R1902:Robo1	UTSW	16	72,960,204 (GRCm38)	missense	probably null	1.00
R1903:Robo1	UTSW	16	72,960,204 (GRCm38)	missense	probably null	1.00
R1996:Robo1	UTSW	16	72,970,179 (GRCm38)	missense	probably benign	0.40
R2040:Robo1	UTSW	16	72,933,742 (GRCm38)	missense	probably damaging	1.00
R2266:Robo1	UTSW	16	72,978,772 (GRCm38)	missense	probably benign
R2269:Robo1	UTSW	16	72,978,772 (GRCm38)	missense	probably benign
R2433:Robo1	UTSW	16	72,970,239 (GRCm38)	missense	probably benign	0.01
R3084:Robo1	UTSW	16	73,004,737 (GRCm38)	missense	probably benign	0.02
R3085:Robo1	UTSW	16	73,002,010 (GRCm38)	missense	possibly damaging	0.81
R3150:Robo1	UTSW	16	72,970,269 (GRCm38)	missense	possibly damaging	0.57
R3418:Robo1	UTSW	16	73,035,917 (GRCm38)	missense	probably benign	0.00
R3610:Robo1	UTSW	16	72,983,770 (GRCm38)	missense	probably benign	0.00
R3940:Robo1	UTSW	16	73,009,743 (GRCm38)	missense	probably benign
R3953:Robo1	UTSW	16	73,024,338 (GRCm38)	missense	probably damaging	1.00
R4692:Robo1	UTSW	16	72,960,202 (GRCm38)	missense	probably damaging	1.00
R4726:Robo1	UTSW	16	72,972,043 (GRCm38)	missense	probably damaging	1.00
R4814:Robo1	UTSW	16	72,972,035 (GRCm38)	missense	probably benign	0.11
R4884:Robo1	UTSW	16	72,904,751 (GRCm38)	missense	probably damaging	1.00
R4992:Robo1	UTSW	16	72,979,868 (GRCm38)	missense	probably damaging	0.98
R5150:Robo1	UTSW	16	72,972,304 (GRCm38)	missense	possibly damaging	0.79
R5183:Robo1	UTSW	16	72,742,150 (GRCm38)	missense	probably benign	0.03
R5360:Robo1	UTSW	16	72,935,777 (GRCm38)	missense	probably damaging	0.96
R5629:Robo1	UTSW	16	72,983,710 (GRCm38)	missense	probably benign	0.33
R5804:Robo1	UTSW	16	73,043,189 (GRCm38)	critical splice donor site	probably null
R6107:Robo1	UTSW	16	72,983,829 (GRCm38)	missense	probably benign	0.00
R6127:Robo1	UTSW	16	73,013,068 (GRCm38)	missense	probably benign
R6128:Robo1	UTSW	16	73,013,068 (GRCm38)	missense	probably benign
R6129:Robo1	UTSW	16	73,013,068 (GRCm38)	missense	probably benign
R6191:Robo1	UTSW	16	72,933,808 (GRCm38)	missense	probably benign	0.00
R6357:Robo1	UTSW	16	72,970,302 (GRCm38)	missense	probably benign	0.00
R6408:Robo1	UTSW	16	72,972,046 (GRCm38)	missense	probably benign	0.00
R6516:Robo1	UTSW	16	73,024,353 (GRCm38)	missense	probably benign	0.14
R6600:Robo1	UTSW	16	72,989,655 (GRCm38)	missense	probably damaging	1.00
R6802:Robo1	UTSW	16	72,933,313 (GRCm38)	missense	probably benign	0.17
R7105:Robo1	UTSW	16	72,742,161 (GRCm38)	missense	probably damaging	1.00
R7189:Robo1	UTSW	16	72,960,151 (GRCm38)	nonsense	probably null
R7290:Robo1	UTSW	16	73,004,520 (GRCm38)	missense	probably benign	0.03
R7296:Robo1	UTSW	16	72,989,631 (GRCm38)	nonsense	probably null
R7576:Robo1	UTSW	16	72,970,181 (GRCm38)	missense	probably damaging	0.99
R7605:Robo1	UTSW	16	73,024,301 (GRCm38)	missense	probably benign	0.14
R7607:Robo1	UTSW	16	72,563,738 (GRCm38)	missense
R7634:Robo1	UTSW	16	73,042,978 (GRCm38)	splice site	probably null
R7636:Robo1	UTSW	16	72,563,727 (GRCm38)	missense
R7857:Robo1	UTSW	16	72,970,211 (GRCm38)	missense	probably damaging	1.00
R7966:Robo1	UTSW	16	72,983,872 (GRCm38)	missense	possibly damaging	0.62
R7997:Robo1	UTSW	16	72,904,693 (GRCm38)	missense	probably damaging	1.00
R8101:Robo1	UTSW	16	72,978,581 (GRCm38)	missense	probably benign	0.03
R8191:Robo1	UTSW	16	72,933,254 (GRCm38)	missense	probably damaging	1.00
R8218:Robo1	UTSW	16	72,989,790 (GRCm38)	missense	possibly damaging	0.91
R8228:Robo1	UTSW	16	73,012,880 (GRCm38)	missense	probably benign	0.30
R8292:Robo1	UTSW	16	72,972,532 (GRCm38)	missense	possibly damaging	0.61
R8298:Robo1	UTSW	16	72,972,132 (GRCm38)	intron	probably benign
R8332:Robo1	UTSW	16	72,978,578 (GRCm38)	missense	probably damaging	1.00
R8402:Robo1	UTSW	16	73,024,497 (GRCm38)	missense	probably benign	0.16
R8492:Robo1	UTSW	16	73,013,023 (GRCm38)	missense	probably benign	0.06
R8730:Robo1	UTSW	16	72,989,607 (GRCm38)	missense	probably benign	0.08
R8774:Robo1	UTSW	16	73,035,831 (GRCm38)	missense	probably benign	0.00
R8774-TAIL:Robo1	UTSW	16	73,035,831 (GRCm38)	missense	probably benign	0.00
R8776:Robo1	UTSW	16	73,024,253 (GRCm38)	nonsense	probably null
R8776-TAIL:Robo1	UTSW	16	73,024,253 (GRCm38)	nonsense	probably null
R8905:Robo1	UTSW	16	72,742,285 (GRCm38)	missense	probably damaging	1.00
R8913:Robo1	UTSW	16	72,904,734 (GRCm38)	missense	probably damaging	1.00
R9003:Robo1	UTSW	16	72,742,114 (GRCm38)	splice site	probably benign
R9246:Robo1	UTSW	16	72,972,290 (GRCm38)	missense	probably benign
R9451:Robo1	UTSW	16	73,006,830 (GRCm38)	missense	probably benign	0.10
R9509:Robo1	UTSW	16	72,962,279 (GRCm38)	missense	probably damaging	0.96
R9652:Robo1	UTSW	16	73,024,442 (GRCm38)	missense	possibly damaging	0.95
R9653:Robo1	UTSW	16	73,024,442 (GRCm38)	missense	possibly damaging	0.95
R9749:Robo1	UTSW	16	72,308,369 (GRCm38)	start gained	probably benign
Z1176:Robo1	UTSW	16	72,977,800 (GRCm38)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AAGAAATGCCCTGTCCAGTGCCAC -3'
(R):5'- AGTTCACGGGCTTCGAGAGTCAAC -3'

Sequencing Primer
(F):5'- TATTTGCAACAGGATGAATTAGAGG -3'
(R):5'- GCTTCGAGAGTCAACAGTATTAG -3'

Posted On

2013-06-11