Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Robo1'

559518

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

045238-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72105194-72842983 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 72757039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 333 (C333*)

Ref Sequence

ENSEMBL: ENSMUSP00000023600 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023600
AA Change: C333*

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: C333*

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
AA Change: C342*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (57/60)

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
Abtb2	G	T	2: 103,397,861 (GRCm39)	A264S	probably benign	Het
Atosa	T	C	9: 74,911,633 (GRCm39)	C42R	probably damaging	Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bmp4	A	G	14: 46,621,456 (GRCm39)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,773,590 (GRCm39)	A2077S	unknown	Het
Chrna7	T	C	7: 62,755,775 (GRCm39)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,118,780 (GRCm39)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,444,824 (GRCm39)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,372,817 (GRCm39)	I534K	unknown	Het
Cyp3a25	A	T	5: 145,939,870 (GRCm39)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,281,302 (GRCm39)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,290,074 (GRCm39)	E301G	probably damaging	Het
Efcab3	T	C	11: 104,986,690 (GRCm39)	S30P	probably benign	Het
Elk4	A	G	1: 131,947,127 (GRCm39)	I373V	probably damaging	Het
Fam161b	T	C	12: 84,395,420 (GRCm39)	S508G	probably damaging	Het
Fgf10	A	G	13: 118,925,659 (GRCm39)	E146G	probably benign	Het
Fsip2	A	G	2: 82,823,581 (GRCm39)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,758,982 (GRCm39)	P101S	probably benign	Het
Gask1b	T	A	3: 79,794,114 (GRCm39)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hfm1	A	G	5: 107,049,569 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,989,416 (GRCm39)	S1956P	probably damaging	Het
Hrh2	A	G	13: 54,375,270 (GRCm39)	S369G	unknown	Het
Hspg2	T	C	4: 137,260,872 (GRCm39)		probably null	Het
Hsph1	T	C	5: 149,553,925 (GRCm39)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 53,201,145 (GRCm39)		probably null	Het
Kctd1	C	T	18: 15,195,700 (GRCm39)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,060,103 (GRCm39)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,467,963 (GRCm39)	G107R	probably benign	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lepr	T	C	4: 101,671,961 (GRCm39)	V995A	probably benign	Het
Mfsd4a	A	T	1: 131,980,131 (GRCm39)	V375E	probably damaging	Het
Mgl2	G	T	11: 70,027,869 (GRCm39)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,414,798 (GRCm39)	Y2581*	probably null	Het
Nol10	G	T	12: 17,423,562 (GRCm39)		probably null	Het
Or4k47	T	A	2: 111,451,538 (GRCm39)	M294L	probably benign	Het
Or52n3	A	T	7: 104,530,348 (GRCm39)	K145*	probably null	Het
Otud3	C	T	4: 138,636,865 (GRCm39)	V99M	probably damaging	Het
Parvb	T	C	15: 84,187,672 (GRCm39)		probably null	Het
Pclo	C	A	5: 14,571,932 (GRCm39)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,419,302 (GRCm39)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,748,581 (GRCm39)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,483,366 (GRCm39)	R1559L	possibly damaging	Het
Ppp2r3d	T	A	9: 101,003,621 (GRCm39)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,685,610 (GRCm39)	Y423*	probably null	Het
Ryr2	A	T	13: 11,898,009 (GRCm39)	Y129N	probably damaging	Het
Schip1	A	T	3: 68,525,032 (GRCm39)	K359M	probably damaging	Het
Schip1	G	T	3: 68,525,033 (GRCm39)	K359N	probably damaging	Het
Sh2d2a	T	A	3: 87,755,668 (GRCm39)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 84,875,906 (GRCm39)	M588I	probably benign	Het
Stim2	T	A	5: 54,273,470 (GRCm39)	C567S	probably benign	Het
Syne1	C	A	10: 5,374,295 (GRCm39)	A171S	probably benign	Het
Tigd3	A	G	19: 5,943,050 (GRCm39)	S27P	probably benign	Het
Vipr1	C	A	9: 121,493,620 (GRCm39)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,614,475 (GRCm39)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,404,125 (GRCm39)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,340,472 (GRCm39)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,352,307 (GRCm39)	F20S	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
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
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'- CCTTGAAGCAGCTCTCAGTG -3'
(R):5'- AGGCACTGACAATGGCTCTG -3'

Sequencing Primer
(F):5'- GCTCAAGAATTCTTCTAAATGTGAGG -3'
(R):5'- GAAAATGGTTATACCTGACTCC -3'

Posted On

2019-06-26