Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:Robo1'

502598

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72308306-73046095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72933808 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 266 (S266P)

Ref Sequence

ENSEMBL: ENSMUSP00000023600 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023600
AA Change: S266P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: S266P

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: S275P

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably damaging	Het

Other mutations in Robo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01766:Robo1	APN	16	73004665	missense	probably benign	0.00
IGL01937:Robo1	APN	16	72962226	missense	probably damaging	1.00
IGL01945:Robo1	APN	16	72962226	missense	probably damaging	1.00
IGL02151:Robo1	APN	16	72989616	missense	probably benign	0.00
IGL02232:Robo1	APN	16	72971984	missense	possibly damaging	0.59
IGL02282:Robo1	APN	16	72742138	missense	probably damaging	1.00
IGL02590:Robo1	APN	16	73043132	missense	probably benign	0.06
IGL02874:Robo1	APN	16	73012918	missense	probably damaging	0.96
IGL02974:Robo1	APN	16	73006862	missense	probably benign	0.09
IGL03233:Robo1	APN	16	72970193	missense	probably damaging	0.99
PIT4378001:Robo1	UTSW	16	73004535	missense	probably damaging	1.00
R0079:Robo1	UTSW	16	72933342	splice site	probably benign
R0254:Robo1	UTSW	16	72664170	missense	probably benign	0.00
R0366:Robo1	UTSW	16	72742245	missense	possibly damaging	0.52
R0410:Robo1	UTSW	16	72971984	missense	possibly damaging	0.59
R0511:Robo1	UTSW	16	73013125	critical splice donor site	probably null
R0563:Robo1	UTSW	16	72972286	missense	probably benign	0.01
R0637:Robo1	UTSW	16	73001951	missense	probably benign	0.29
R1239:Robo1	UTSW	16	73024542	splice site	probably null
R1773:Robo1	UTSW	16	73004511	missense	probably benign	0.00
R1777:Robo1	UTSW	16	73004667	missense	probably benign
R1901:Robo1	UTSW	16	72960204	missense	probably null	1.00
R1902:Robo1	UTSW	16	72960204	missense	probably null	1.00
R1903:Robo1	UTSW	16	72960204	missense	probably null	1.00
R1996:Robo1	UTSW	16	72970179	missense	probably benign	0.40
R2040:Robo1	UTSW	16	72933742	missense	probably damaging	1.00
R2266:Robo1	UTSW	16	72978772	missense	probably benign
R2269:Robo1	UTSW	16	72978772	missense	probably benign
R2433:Robo1	UTSW	16	72970239	missense	probably benign	0.01
R3084:Robo1	UTSW	16	73004737	missense	probably benign	0.02
R3085:Robo1	UTSW	16	73002010	missense	possibly damaging	0.81
R3150:Robo1	UTSW	16	72970269	missense	possibly damaging	0.57
R3418:Robo1	UTSW	16	73035917	missense	probably benign	0.00
R3610:Robo1	UTSW	16	72983770	missense	probably benign	0.00
R3940:Robo1	UTSW	16	73009743	missense	probably benign
R3953:Robo1	UTSW	16	73024338	missense	probably damaging	1.00
R4692:Robo1	UTSW	16	72960202	missense	probably damaging	1.00
R4726:Robo1	UTSW	16	72972043	missense	probably damaging	1.00
R4814:Robo1	UTSW	16	72972035	missense	probably benign	0.11
R4884:Robo1	UTSW	16	72904751	missense	probably damaging	1.00
R4992:Robo1	UTSW	16	72979868	missense	probably damaging	0.98
R5150:Robo1	UTSW	16	72972304	missense	possibly damaging	0.79
R5183:Robo1	UTSW	16	72742150	missense	probably benign	0.03
R5360:Robo1	UTSW	16	72935777	missense	probably damaging	0.96
R5629:Robo1	UTSW	16	72983710	missense	probably benign	0.33
R5804:Robo1	UTSW	16	73043189	critical splice donor site	probably null
R6107:Robo1	UTSW	16	72983829	missense	probably benign	0.00
R6127:Robo1	UTSW	16	73013068	missense	probably benign
R6128:Robo1	UTSW	16	73013068	missense	probably benign
R6129:Robo1	UTSW	16	73013068	missense	probably benign
R6357:Robo1	UTSW	16	72970302	missense	probably benign	0.00
R6408:Robo1	UTSW	16	72972046	missense	probably benign	0.00
R6516:Robo1	UTSW	16	73024353	missense	probably benign	0.14
R6600:Robo1	UTSW	16	72989655	missense	probably damaging	1.00
R6802:Robo1	UTSW	16	72933313	missense	probably benign	0.17
R7105:Robo1	UTSW	16	72742161	missense	probably damaging	1.00
R7189:Robo1	UTSW	16	72960151	nonsense	probably null
R7290:Robo1	UTSW	16	73004520	missense	probably benign	0.03
R7296:Robo1	UTSW	16	72989631	nonsense	probably null
R7576:Robo1	UTSW	16	72970181	missense	probably damaging	0.99
R7605:Robo1	UTSW	16	73024301	missense	probably benign	0.14
R7607:Robo1	UTSW	16	72563738	missense
R7634:Robo1	UTSW	16	73042978	splice site	probably null
R7636:Robo1	UTSW	16	72563727	missense
R7857:Robo1	UTSW	16	72970211	missense	probably damaging	1.00
R7966:Robo1	UTSW	16	72983872	missense	possibly damaging	0.62
R7997:Robo1	UTSW	16	72904693	missense	probably damaging	1.00
R8101:Robo1	UTSW	16	72978581	missense	probably benign	0.03
R8191:Robo1	UTSW	16	72933254	missense	probably damaging	1.00
R8218:Robo1	UTSW	16	72989790	missense	possibly damaging	0.91
R8228:Robo1	UTSW	16	73012880	missense	probably benign	0.30
R8292:Robo1	UTSW	16	72972532	missense	possibly damaging	0.61
R8298:Robo1	UTSW	16	72972132	intron	probably benign
R8332:Robo1	UTSW	16	72978578	missense	probably damaging	1.00
R8402:Robo1	UTSW	16	73024497	missense	probably benign	0.16
R8492:Robo1	UTSW	16	73013023	missense	probably benign	0.06
Z1176:Robo1	UTSW	16	72977800	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GTCCTTACTGAACATCCTAAGGG -3'
(R):5'- GCTGGAGACAAGATGGTACC -3'

Sequencing Primer
(F):5'- CCTAAGGGATTTTCCATTCATTCATC -3'
(R):5'- CTGGAGACAAGATGGTACCCTTCTG -3'

Posted On

2018-02-27