Mutagenetix > Incidental Mutation

Incidental Mutation 'R0563:Robo1'

46030

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

038754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0563 (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 72769174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 531 (T531I)

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: T531I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: T531I

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: T540I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232545

Meta Mutation Damage Score

0.2243

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,635 (GRCm39)	P146T	probably damaging	Het
Ambn	A	C	5: 88,611,309 (GRCm39)	N163T	probably benign	Het
Ankrd36	A	T	11: 5,579,322 (GRCm39)	E870D	probably benign	Het
Cdc123	T	C	2: 5,803,212 (GRCm39)	N269S	probably benign	Het
Cdc7	A	T	5: 107,120,776 (GRCm39)		probably benign	Het
Cdh2	A	T	18: 16,762,738 (GRCm39)	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dcdc5	G	A	2: 106,180,035 (GRCm39)		noncoding transcript	Het
Eif4g3	T	C	4: 137,903,151 (GRCm39)		probably benign	Het
Elovl4	C	T	9: 83,667,087 (GRCm39)		probably null	Het
Fhl5	T	G	4: 25,213,610 (GRCm39)	I109L	probably damaging	Het
Gm16181	A	G	17: 35,442,872 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,585,483 (GRCm39)	Y287C	probably benign	Het
Greb1	A	T	12: 16,730,268 (GRCm39)	C1720S	probably benign	Het
Gypa	T	A	8: 81,236,089 (GRCm39)	S165T	probably benign	Het
Hephl1	T	C	9: 14,993,241 (GRCm39)	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,226,692 (GRCm39)	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,617,684 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,352,020 (GRCm39)	E914G	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,195,135 (GRCm39)	N225S	probably damaging	Het
Lysmd4	T	A	7: 66,875,925 (GRCm39)	L196Q	probably benign	Het
Megf8	T	C	7: 25,041,820 (GRCm39)	C1245R	probably damaging	Het
Mgat4f	A	G	1: 134,317,777 (GRCm39)	K183R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mindy2	T	A	9: 70,538,334 (GRCm39)	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,705,539 (GRCm39)	S287P	probably damaging	Het
Ncor1	A	G	11: 62,234,056 (GRCm39)	I382T	probably damaging	Het
Nectin1	A	G	9: 43,702,342 (GRCm39)	T30A	probably benign	Het
Nelfe	A	G	17: 35,073,215 (GRCm39)	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,394,391 (GRCm39)	T767K	possibly damaging	Het
Or1i2	G	A	10: 78,448,467 (GRCm39)	P3S	probably benign	Het
Or1j18	A	T	2: 36,625,013 (GRCm39)	K227*	probably null	Het
Or4e5	T	A	14: 52,727,714 (GRCm39)	K236*	probably null	Het
Or5b111	A	G	19: 13,291,112 (GRCm39)	I179T	probably benign	Het
Pcnx1	A	G	12: 81,964,718 (GRCm39)	D295G	probably damaging	Het
Pex14	A	G	4: 149,046,003 (GRCm39)	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,600 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,573,333 (GRCm39)	D399G	possibly damaging	Het
Prim1	A	G	10: 127,862,423 (GRCm39)	D340G	probably damaging	Het
Rb1	A	G	14: 73,454,207 (GRCm39)	F564L	probably damaging	Het
Rcc1l	G	C	5: 134,205,394 (GRCm39)	R54G	probably benign	Het
Rnf151	G	A	17: 24,936,430 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,192,048 (GRCm39)	L398P	probably damaging	Het
Rps6ka2	A	T	17: 7,521,836 (GRCm39)	I198F	probably damaging	Het
Sgk2	T	C	2: 162,846,164 (GRCm39)	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,734,869 (GRCm39)	I281N	probably damaging	Het
Tnxb	A	T	17: 34,935,921 (GRCm39)	K2657N	probably benign	Het
Tor1aip1	G	A	1: 155,911,554 (GRCm39)	T143M	probably damaging	Het
Tpr	A	G	1: 150,284,609 (GRCm39)	D358G	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	Het
Wdr33	A	G	18: 32,019,792 (GRCm39)	K488R	possibly damaging	Het
Ythdc2	T	A	18: 44,997,915 (GRCm39)		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
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
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'- GCAAGTGAATGTGTTGCCCGAG -3'
(R):5'- TGCCCTCACCAGGAAAAGGTAAATG -3'

Sequencing Primer
(F):5'- TGTTGCCCGAGTTCCTG -3'
(R):5'- GGTTGCTCCTGAGTTCAAGT -3'

Posted On

2013-06-11