Mutagenetix > Incidental Mutation

Incidental Mutation 'R5360:Robo1'

424318

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

042939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5360 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72105194-72842983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72732665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 307 (T307A)

Ref Sequence

ENSEMBL: ENSMUSP00000023600 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023600
AA Change: T307A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: T307A

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

noncoding transcript
Transcript: ENSMUST00000231265

Predicted Effect

unknown
Transcript: ENSMUST00000232205
AA Change: T316A

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	A	19: 55,279,592 (GRCm39)	Y443*	probably null	Het
Aox3	C	T	1: 58,185,667 (GRCm39)	T331M	probably damaging	Het
Arhgap32	G	A	9: 32,170,967 (GRCm39)	R1598H	probably damaging	Het
Atp1a2	A	G	1: 172,106,436 (GRCm39)		probably null	Het
Brpf3	A	T	17: 29,029,536 (GRCm39)	M499L	probably benign	Het
Cacnb1	A	T	11: 97,909,097 (GRCm39)		probably null	Het
Cep295	A	G	9: 15,238,029 (GRCm39)	S1899P	probably damaging	Het
Cntn2	A	G	1: 132,446,595 (GRCm39)	Y748H	probably damaging	Het
Csmd3	T	A	15: 47,532,599 (GRCm39)	Y2532F	probably damaging	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Dsg1a	A	G	18: 20,474,011 (GRCm39)	D1028G	probably damaging	Het
Eif1ad16	A	C	12: 87,985,265 (GRCm39)	L93V	probably benign	Het
Elp1	A	T	4: 56,800,104 (GRCm39)	H7Q	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gabra5	C	T	7: 57,140,533 (GRCm39)	G55R	probably damaging	Het
Gdf9	T	A	11: 53,328,034 (GRCm39)	F330Y	probably benign	Het
Gimap8	T	C	6: 48,633,236 (GRCm39)	S352P	probably damaging	Het
Gm4952	A	T	19: 12,600,993 (GRCm39)	H71L	probably benign	Het
Gnaq	G	A	19: 16,110,790 (GRCm39)	R34H	probably benign	Het
Hebp2	T	C	10: 18,420,055 (GRCm39)	D126G	probably benign	Het
Hectd4	A	G	5: 121,453,464 (GRCm39)	D601G	possibly damaging	Het
Hook2	T	C	8: 85,728,033 (GRCm39)	Y577H	probably damaging	Het
Igfals	A	G	17: 25,099,067 (GRCm39)	T53A	probably benign	Het
Igsf9b	A	G	9: 27,222,968 (GRCm39)	D123G	probably damaging	Het
Ilrun	A	T	17: 28,013,020 (GRCm39)	I59N	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mdm4	A	T	1: 132,919,396 (GRCm39)	*490K	probably null	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Neurl2	C	A	2: 164,675,021 (GRCm39)	A114S	probably damaging	Het
Nuggc	A	G	14: 65,876,075 (GRCm39)	T563A	probably damaging	Het
Or8g32	T	G	9: 39,305,698 (GRCm39)	F204V	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pdlim1	A	T	19: 40,218,993 (GRCm39)	S213T	probably damaging	Het
Pitx1	T	C	13: 55,976,291 (GRCm39)	I123V	probably damaging	Het
Pkd1l1	T	C	11: 8,829,204 (GRCm39)	N1013D	probably benign	Het
Pla2g2c	T	A	4: 138,461,656 (GRCm39)	Y42N	possibly damaging	Het
Polr2b	G	A	5: 77,496,993 (GRCm39)	A1168T	possibly damaging	Het
Ppp2r2a	G	A	14: 67,254,020 (GRCm39)	R383*	probably null	Het
Prl7a2	C	T	13: 27,843,143 (GRCm39)	R220H	probably benign	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rc3h2	A	G	2: 37,279,867 (GRCm39)	V454A	possibly damaging	Het
Slc22a6	T	C	19: 8,596,786 (GRCm39)	L188P	probably damaging	Het
Spag17	A	G	3: 100,016,726 (GRCm39)	N2167S	probably benign	Het
Spag5	G	A	11: 78,205,588 (GRCm39)	E680K	probably damaging	Het
Spata6	A	G	4: 111,680,026 (GRCm39)	Y428C	possibly damaging	Het
Tbc1d5	T	C	17: 51,291,660 (GRCm39)	D47G	probably benign	Het
Trp53	T	C	11: 69,479,566 (GRCm39)		probably null	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,654,707 (GRCm39)		probably benign	Het
Ttc39b	T	C	4: 83,180,084 (GRCm39)	D103G	probably damaging	Het
Ttn	A	C	2: 76,750,322 (GRCm39)	W3576G	probably benign	Het
Yeats2	T	A	16: 19,972,912 (GRCm39)	M22K	probably damaging	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
R3418:Robo1	UTSW	16	72,832,805 (GRCm39)	missense	probably benign	0.00
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
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'- ATGACTTGAAGCCTAGAGACAG -3'
(R):5'- TTCAGAGCAACAAAGGCTATATCC -3'

Sequencing Primer
(F):5'- CTAGAGACAGCATAGCTTCAGACTTG -3'
(R):5'- GCAACAAAGGCTATATCCATGAAAAC -3'

Posted On

2016-08-04