Mutagenetix > Incidental Mutation

Incidental Mutation 'R9003:Robo1'

706171

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

068833-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72105194-72842983 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 72539002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023600] [ENSMUST00000231580]

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000231580

Predicted Effect

probably benign
Transcript: ENSMUST00000232205

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,850,013 (GRCm39)	H917Y	possibly damaging	Het
Acot4	A	G	12: 84,089,969 (GRCm39)	K222R	possibly damaging	Het
Akap12	A	G	10: 4,306,744 (GRCm39)	S1290G	probably benign	Het
Arid1a	T	C	4: 133,411,799 (GRCm39)	I1311V	unknown	Het
Asf1b	G	T	8: 84,682,530 (GRCm39)	E25*	probably null	Het
Atp10a	T	A	7: 58,457,203 (GRCm39)	W901R	probably damaging	Het
Aurkc	T	A	7: 6,999,547 (GRCm39)	I18N	probably damaging	Het
Carmil2	A	G	8: 106,423,905 (GRCm39)	T1253A	probably damaging	Het
Ccdc146	T	C	5: 21,508,132 (GRCm39)	T639A	possibly damaging	Het
Cdca4	A	G	12: 112,785,659 (GRCm39)	V23A	probably benign	Het
Chpt1	A	G	10: 88,312,943 (GRCm39)	F290L	probably damaging	Het
Clca3b	C	T	3: 144,533,072 (GRCm39)	W653*	probably null	Het
Coa8	A	G	12: 111,688,189 (GRCm39)	*45W	probably null	Het
Cpb2	A	T	14: 75,479,868 (GRCm39)		probably benign	Het
Cul9	A	G	17: 46,836,001 (GRCm39)	V1215A	possibly damaging	Het
Cxxc4	A	T	3: 133,945,431 (GRCm39)	N4I	unknown	Het
Eps8l1	G	T	7: 4,464,016 (GRCm39)	V47F	possibly damaging	Het
Exoc6	T	C	19: 37,587,097 (GRCm39)	I537T	probably damaging	Het
Fbn2	T	C	18: 58,176,591 (GRCm39)	Y2040C	probably damaging	Het
Gfm2	T	G	13: 97,282,889 (GRCm39)		probably benign	Het
Jak2	A	T	19: 29,254,240 (GRCm39)	M187L	probably benign	Het
Kif5b	A	G	18: 6,224,047 (GRCm39)	V247A	probably benign	Het
Klhl22	T	C	16: 17,589,612 (GRCm39)	V91A	probably damaging	Het
Ldhd	T	C	8: 112,356,894 (GRCm39)	S17G	probably benign	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mecom	T	C	3: 30,034,639 (GRCm39)	I346V	probably benign	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek4	C	T	14: 30,704,471 (GRCm39)	T662M	probably benign	Het
Or10g3b	T	A	14: 52,586,768 (GRCm39)	H245L	probably damaging	Het
Or2y1b	C	T	11: 49,209,155 (GRCm39)	P261S	possibly damaging	Het
Or4c117	T	A	2: 88,956,024 (GRCm39)	Q17L	possibly damaging	Het
Or4k42	A	G	2: 111,320,411 (GRCm39)	F31L	probably benign	Het
Or5ac19	A	T	16: 59,089,263 (GRCm39)	F256I	probably benign	Het
Or8c18	C	T	9: 38,203,343 (GRCm39)	T34I	probably benign	Het
Phc3	G	A	3: 31,020,007 (GRCm39)	T19I	possibly damaging	Het
Pla2g4e	T	A	2: 120,007,282 (GRCm39)	Q472L	probably benign	Het
Plcg2	C	T	8: 118,342,002 (GRCm39)	T1121I		Het
Plin2	T	C	4: 86,580,324 (GRCm39)	T146A	probably benign	Het
Pum1	T	G	4: 130,474,393 (GRCm39)	S488A	probably benign	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Sbno2	A	T	10: 79,896,049 (GRCm39)	V939E	probably damaging	Het
Scarf1	A	T	11: 75,406,069 (GRCm39)	T118S	possibly damaging	Het
Sdcbp2	G	A	2: 151,429,113 (GRCm39)	V171M	probably benign	Het
Sh3pxd2b	T	C	11: 32,361,571 (GRCm39)	I261T	probably damaging	Het
Slc4a9	A	G	18: 36,673,787 (GRCm39)		probably null	Het
Smpdl3a	A	G	10: 57,683,977 (GRCm39)	Y245C	probably damaging	Het
Stk39	T	C	2: 68,222,462 (GRCm39)	I201V	probably damaging	Het
Timm44	A	G	8: 4,324,204 (GRCm39)	L25P	possibly damaging	Het
Tinf2	T	C	14: 55,917,859 (GRCm39)	H210R	probably benign	Het
Tmem168	A	T	6: 13,591,446 (GRCm39)	Y457N	probably benign	Het
Topbp1	T	C	9: 103,200,727 (GRCm39)	S587P	probably benign	Het
Tpp1	T	A	7: 105,398,156 (GRCm39)	I336F	probably benign	Het
Ttc28	G	A	5: 111,424,896 (GRCm39)	V1574I	probably benign	Het
Tut4	A	G	4: 108,400,029 (GRCm39)	K1277E	probably damaging	Het
Vmn2r52	A	T	7: 9,905,181 (GRCm39)	D219E	probably benign	Het
Zbtb40	G	T	4: 136,745,904 (GRCm39)	A43E	probably damaging	Het
Zfp970	G	A	2: 177,167,010 (GRCm39)	A195T	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
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
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'- GGCAGAGTTAAGCAAGAGAACTTTC -3'
(R):5'- ATAAAGACCCGCTTGGCAGC -3'

Sequencing Primer
(F):5'- GCAAGAGAACTTTCTATTCTCAGAG -3'
(R):5'- AGCAGCATCCGGTGTGAG -3'

Posted On

2022-04-13