Mutagenetix > Incidental Mutation

Incidental Mutation 'R3953:Robo1'

308076

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

040830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72105194-72842983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72821226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1331 (D1331G)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023600
AA Change: D1322G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: D1322G

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 damaging
Transcript: ENSMUST00000232205
AA Change: D1331G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1542

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (61/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Adgrf1	A	G	17: 43,621,098 (GRCm39)	N445S	probably benign	Het
Aldh7a1	C	A	18: 56,681,577 (GRCm39)	V198L	probably damaging	Het
Ank2	A	T	3: 126,781,809 (GRCm39)	D6E	probably damaging	Het
Arhgap31	A	G	16: 38,423,826 (GRCm39)	F747L	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cadps	T	C	14: 12,505,937 (GRCm38)	D711G	probably damaging	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp4f18	C	T	8: 72,754,801 (GRCm39)	R148H	probably damaging	Het
Dennd4a	C	A	9: 64,759,857 (GRCm39)	P321T	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	G	A	11: 69,344,929 (GRCm39)	T2715M	probably damaging	Het
Evc2	T	C	5: 37,537,931 (GRCm39)		probably null	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gucy1a2	T	C	9: 3,582,704 (GRCm39)		probably benign	Het
Gys1	C	T	7: 45,089,470 (GRCm39)	P274S	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Herc1	C	T	9: 66,341,075 (GRCm39)	Q1731*	probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lnx1	T	C	5: 74,766,750 (GRCm39)	T455A	probably benign	Het
Mast2	A	T	4: 116,170,926 (GRCm39)	H612Q	probably damaging	Het
Mcm9	G	A	10: 53,439,440 (GRCm39)	H578Y	probably damaging	Het
Mefv	A	G	16: 3,533,264 (GRCm39)	S336P	possibly damaging	Het
Micu1	A	T	10: 59,586,326 (GRCm39)	H134L	probably benign	Het
Mrgprb2	C	T	7: 48,202,116 (GRCm39)	G203D	possibly damaging	Het
Ncapd2	T	C	6: 125,147,697 (GRCm39)	I1179V	probably damaging	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5b119	G	A	19: 13,456,806 (GRCm39)	S252L	probably benign	Het
Pcnx3	A	G	19: 5,733,808 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,103,145 (GRCm39)		probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptprb	A	G	10: 116,177,399 (GRCm39)	N1320S	probably benign	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Slc44a5	A	G	3: 153,877,209 (GRCm39)	D13G	probably benign	Het
Slco1a1	A	T	6: 141,868,833 (GRCm39)	M377K	probably damaging	Het
St18	T	A	1: 6,873,117 (GRCm39)	L284Q	probably damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tln2	G	A	9: 67,277,911 (GRCm39)	P368S	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Vps13d	A	G	4: 144,875,450 (GRCm39)	S1686P	probably damaging	Het
Wdr41	A	G	13: 95,133,571 (GRCm39)	E75G	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
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'- ATCCTTGTCTTCCTACAGGCGG -3'
(R):5'- GACTCACCAGCAGCATCTTG -3'

Sequencing Primer
(F):5'- CCGCCACGGCCAATTTC -3'
(R):5'- GCGGCGAGCCACTTTCAG -3'

Posted On

2015-04-17