Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Robo1'

266932

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

040636-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72105194-72842983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72832805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1526 (T1526I)

Ref Sequence

ENSEMBL: ENSMUSP00000023600 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023600
AA Change: T1526I

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

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: T1526I

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

unknown
Transcript: ENSMUST00000232205
AA Change: T1535I

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het

Other mutations in Robo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01766:Robo1	APN	16	72,801,553 (GRCm39)	missense	probably benign	0.00
IGL01937:Robo1	APN	16	72,759,114 (GRCm39)	missense	probably damaging	1.00
IGL01945:Robo1	APN	16	72,759,114 (GRCm39)	missense	probably damaging	1.00
IGL02151:Robo1	APN	16	72,786,504 (GRCm39)	missense	probably benign	0.00
IGL02232:Robo1	APN	16	72,768,872 (GRCm39)	missense	possibly damaging	0.59
IGL02282:Robo1	APN	16	72,539,026 (GRCm39)	missense	probably damaging	1.00
IGL02590:Robo1	APN	16	72,840,020 (GRCm39)	missense	probably benign	0.06
IGL02874:Robo1	APN	16	72,809,806 (GRCm39)	missense	probably damaging	0.96
IGL02974:Robo1	APN	16	72,803,750 (GRCm39)	missense	probably benign	0.09
IGL03233:Robo1	APN	16	72,767,081 (GRCm39)	missense	probably damaging	0.99
PIT4378001:Robo1	UTSW	16	72,801,423 (GRCm39)	missense	probably damaging	1.00
R0079:Robo1	UTSW	16	72,730,230 (GRCm39)	splice site	probably benign
R0254:Robo1	UTSW	16	72,461,058 (GRCm39)	missense	probably benign	0.00
R0366:Robo1	UTSW	16	72,539,133 (GRCm39)	missense	possibly damaging	0.52
R0410:Robo1	UTSW	16	72,768,872 (GRCm39)	missense	possibly damaging	0.59
R0511:Robo1	UTSW	16	72,810,013 (GRCm39)	critical splice donor site	probably null
R0563:Robo1	UTSW	16	72,769,174 (GRCm39)	missense	probably benign	0.01
R0637:Robo1	UTSW	16	72,798,839 (GRCm39)	missense	probably benign	0.29
R1239:Robo1	UTSW	16	72,821,430 (GRCm39)	splice site	probably null
R1773:Robo1	UTSW	16	72,801,399 (GRCm39)	missense	probably benign	0.00
R1777:Robo1	UTSW	16	72,801,555 (GRCm39)	missense	probably benign
R1901:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1902:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1903:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1996:Robo1	UTSW	16	72,767,067 (GRCm39)	missense	probably benign	0.40
R2040:Robo1	UTSW	16	72,730,630 (GRCm39)	missense	probably damaging	1.00
R2266:Robo1	UTSW	16	72,775,660 (GRCm39)	missense	probably benign
R2269:Robo1	UTSW	16	72,775,660 (GRCm39)	missense	probably benign
R2433:Robo1	UTSW	16	72,767,127 (GRCm39)	missense	probably benign	0.01
R3084:Robo1	UTSW	16	72,801,625 (GRCm39)	missense	probably benign	0.02
R3085:Robo1	UTSW	16	72,798,898 (GRCm39)	missense	possibly damaging	0.81
R3150:Robo1	UTSW	16	72,767,157 (GRCm39)	missense	possibly damaging	0.57
R3610:Robo1	UTSW	16	72,780,658 (GRCm39)	missense	probably benign	0.00
R3940:Robo1	UTSW	16	72,806,631 (GRCm39)	missense	probably benign
R3953:Robo1	UTSW	16	72,821,226 (GRCm39)	missense	probably damaging	1.00
R4692:Robo1	UTSW	16	72,757,090 (GRCm39)	missense	probably damaging	1.00
R4726:Robo1	UTSW	16	72,768,931 (GRCm39)	missense	probably damaging	1.00
R4814:Robo1	UTSW	16	72,768,923 (GRCm39)	missense	probably benign	0.11
R4884:Robo1	UTSW	16	72,701,639 (GRCm39)	missense	probably damaging	1.00
R4992:Robo1	UTSW	16	72,776,756 (GRCm39)	missense	probably damaging	0.98
R5150:Robo1	UTSW	16	72,769,192 (GRCm39)	missense	possibly damaging	0.79
R5183:Robo1	UTSW	16	72,539,038 (GRCm39)	missense	probably benign	0.03
R5360:Robo1	UTSW	16	72,732,665 (GRCm39)	missense	probably damaging	0.96
R5629:Robo1	UTSW	16	72,780,598 (GRCm39)	missense	probably benign	0.33
R5804:Robo1	UTSW	16	72,840,077 (GRCm39)	critical splice donor site	probably null
R6107:Robo1	UTSW	16	72,780,717 (GRCm39)	missense	probably benign	0.00
R6127:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6128:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6129:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6191:Robo1	UTSW	16	72,730,696 (GRCm39)	missense	probably benign	0.00
R6357:Robo1	UTSW	16	72,767,190 (GRCm39)	missense	probably benign	0.00
R6408:Robo1	UTSW	16	72,768,934 (GRCm39)	missense	probably benign	0.00
R6516:Robo1	UTSW	16	72,821,241 (GRCm39)	missense	probably benign	0.14
R6600:Robo1	UTSW	16	72,786,543 (GRCm39)	missense	probably damaging	1.00
R6802:Robo1	UTSW	16	72,730,201 (GRCm39)	missense	probably benign	0.17
R7105:Robo1	UTSW	16	72,539,049 (GRCm39)	missense	probably damaging	1.00
R7189:Robo1	UTSW	16	72,757,039 (GRCm39)	nonsense	probably null
R7290:Robo1	UTSW	16	72,801,408 (GRCm39)	missense	probably benign	0.03
R7296:Robo1	UTSW	16	72,786,519 (GRCm39)	nonsense	probably null
R7576:Robo1	UTSW	16	72,767,069 (GRCm39)	missense	probably damaging	0.99
R7605:Robo1	UTSW	16	72,821,189 (GRCm39)	missense	probably benign	0.14
R7607:Robo1	UTSW	16	72,360,626 (GRCm39)	missense
R7634:Robo1	UTSW	16	72,839,866 (GRCm39)	splice site	probably null
R7636:Robo1	UTSW	16	72,360,615 (GRCm39)	missense
R7857:Robo1	UTSW	16	72,767,099 (GRCm39)	missense	probably damaging	1.00
R7966:Robo1	UTSW	16	72,780,760 (GRCm39)	missense	possibly damaging	0.62
R7997:Robo1	UTSW	16	72,701,581 (GRCm39)	missense	probably damaging	1.00
R8101:Robo1	UTSW	16	72,775,469 (GRCm39)	missense	probably benign	0.03
R8191:Robo1	UTSW	16	72,730,142 (GRCm39)	missense	probably damaging	1.00
R8218:Robo1	UTSW	16	72,786,678 (GRCm39)	missense	possibly damaging	0.91
R8228:Robo1	UTSW	16	72,809,768 (GRCm39)	missense	probably benign	0.30
R8292:Robo1	UTSW	16	72,769,420 (GRCm39)	missense	possibly damaging	0.61
R8298:Robo1	UTSW	16	72,769,020 (GRCm39)	intron	probably benign
R8332:Robo1	UTSW	16	72,775,466 (GRCm39)	missense	probably damaging	1.00
R8402:Robo1	UTSW	16	72,821,385 (GRCm39)	missense	probably benign	0.16
R8492:Robo1	UTSW	16	72,809,911 (GRCm39)	missense	probably benign	0.06
R8730:Robo1	UTSW	16	72,786,495 (GRCm39)	missense	probably benign	0.08
R8774:Robo1	UTSW	16	72,832,719 (GRCm39)	missense	probably benign	0.00
R8774-TAIL:Robo1	UTSW	16	72,832,719 (GRCm39)	missense	probably benign	0.00
R8776:Robo1	UTSW	16	72,821,141 (GRCm39)	nonsense	probably null
R8776-TAIL:Robo1	UTSW	16	72,821,141 (GRCm39)	nonsense	probably null
R8905:Robo1	UTSW	16	72,539,173 (GRCm39)	missense	probably damaging	1.00
R8913:Robo1	UTSW	16	72,701,622 (GRCm39)	missense	probably damaging	1.00
R9003:Robo1	UTSW	16	72,539,002 (GRCm39)	splice site	probably benign
R9246:Robo1	UTSW	16	72,769,178 (GRCm39)	missense	probably benign
R9451:Robo1	UTSW	16	72,803,718 (GRCm39)	missense	probably benign	0.10
R9509:Robo1	UTSW	16	72,759,167 (GRCm39)	missense	probably damaging	0.96
R9652:Robo1	UTSW	16	72,821,330 (GRCm39)	missense	possibly damaging	0.95
R9653:Robo1	UTSW	16	72,821,330 (GRCm39)	missense	possibly damaging	0.95
R9749:Robo1	UTSW	16	72,105,257 (GRCm39)	start gained	probably benign
Z1176:Robo1	UTSW	16	72,774,688 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGTCATGGTGCCAAAACTCG -3'
(R):5'- TGACATCACTTTCACACATTGG -3'

Sequencing Primer
(F):5'- GGTGCCAAAACTCGCGTCTATAG -3'
(R):5'- CACACATTGGAATGAATTGCAC -3'

Posted On

2015-02-18