Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03307:Robo3'

416430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Robo3

Ensembl Gene

ENSMUSG00000032128

Gene Name

roundabout guidance receptor 3

Synonyms

Rig1, Rig-1, Robo3b, Robo3a, Rbig1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03307

Quality Score

Status

Chromosome

Chromosomal Location

37415669-37433246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37422564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 658 (V658D)

Ref Sequence

ENSEMBL: ENSMUSP00000150639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034643] [ENSMUST00000115038] [ENSMUST00000170512]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034643
AA Change: V658D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034643
Gene: ENSMUSG00000032128
AA Change: V658D

Domain	Start	End	E-Value	Type
IGc2	54	128	9.7e-11	SMART
IGc2	156	221	1.44e-4	SMART
IGc2	248	311	1.89e-13	SMART
IGc2	337	409	9.84e-12	SMART
IGc2	441	506	2.09e-15	SMART
FN3	534	616	4.24e-14	SMART
FN3	648	731	3.06e0	SMART
FN3	747	832	1.97e-9	SMART
low complexity region	870	890	N/A	INTRINSIC
low complexity region	1055	1082	N/A	INTRINSIC
low complexity region	1131	1149	N/A	INTRINSIC
low complexity region	1155	1169	N/A	INTRINSIC
low complexity region	1193	1206	N/A	INTRINSIC
low complexity region	1245	1256	N/A	INTRINSIC
low complexity region	1268	1281	N/A	INTRINSIC
low complexity region	1336	1376	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115038
AA Change: V680D

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110690
Gene: ENSMUSG00000032128
AA Change: V680D

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
IGc2	76	150	9.7e-11	SMART
IGc2	178	243	1.44e-4	SMART
IGc2	270	333	1.89e-13	SMART
IGc2	359	431	9.84e-12	SMART
IGc2	463	528	2.09e-15	SMART
FN3	556	638	4.24e-14	SMART
FN3	670	753	3.06e0	SMART
FN3	769	854	1.97e-9	SMART
low complexity region	892	912	N/A	INTRINSIC
low complexity region	1077	1104	N/A	INTRINSIC
low complexity region	1153	1171	N/A	INTRINSIC
low complexity region	1177	1191	N/A	INTRINSIC
low complexity region	1215	1228	N/A	INTRINSIC
low complexity region	1267	1278	N/A	INTRINSIC
low complexity region	1290	1303	N/A	INTRINSIC
low complexity region	1358	1398	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167216

Predicted Effect

probably damaging
Transcript: ENSMUST00000170512
AA Change: V658D

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171467

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,459,053	I417T	possibly damaging	Het
Arrdc1	A	T	2: 24,926,342	I205N	probably damaging	Het
Atp6v1a	A	G	16: 44,111,559	V122A	possibly damaging	Het
Atp8a2	A	G	14: 60,015,872		probably null	Het
Cdh18	A	G	15: 23,226,786	H111R	probably damaging	Het
Cpsf3	T	A	12: 21,296,714	I196N	possibly damaging	Het
Cyp2b9	C	T	7: 26,199,051	S277L	probably benign	Het
Grik3	T	C	4: 125,641,554	M248T	possibly damaging	Het
Gusb	T	C	5: 130,000,031	*145W	probably null	Het
Il18rap	T	C	1: 40,543,067	Y383H	probably benign	Het
Lama4	T	C	10: 39,017,383	V162A	probably benign	Het
Macc1	A	T	12: 119,446,420	M308L	probably benign	Het
Olfr591	C	T	7: 103,173,416	V74I	probably benign	Het
Olfr944	A	T	9: 39,218,013	I219F	probably benign	Het
Postn	A	G	3: 54,375,127	D503G	probably benign	Het
Scrn1	G	A	6: 54,548,337	R16*	probably null	Het
Setd1b	C	A	5: 123,148,671	D593E	unknown	Het
Slc2a13	C	T	15: 91,276,114	V546M	probably damaging	Het
Spock1	T	C	13: 57,429,347	D423G	probably null	Het
Stox2	T	C	8: 47,194,030	T132A	probably damaging	Het
Tcrg-C1	A	G	13: 19,214,358		probably benign	Het
Tle2	T	C	10: 81,590,240	S703P	probably damaging	Het
Ttc41	T	C	10: 86,744,440	I750T	possibly damaging	Het
Vmn2r107	A	T	17: 20,356,776	K345N	probably benign	Het
Vmn2r60	T	C	7: 42,116,547	V26A	probably benign	Het
Vmn2r98	G	A	17: 19,065,980	V247I	possibly damaging	Het
Zan	A	G	5: 137,474,025	V153A	probably damaging	Het

Other mutations in Robo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Robo3	APN	9	37427754	critical splice donor site	probably null
IGL01023:Robo3	APN	9	37429551	missense	probably damaging	1.00
IGL01431:Robo3	APN	9	37419111	unclassified	probably benign
IGL01993:Robo3	APN	9	37424653	missense	probably damaging	1.00
IGL02256:Robo3	APN	9	37425353	missense	probably damaging	1.00
IGL02323:Robo3	APN	9	37422201	missense	probably benign	0.05
IGL02561:Robo3	APN	9	37427091	missense	possibly damaging	0.84
IGL02866:Robo3	APN	9	37422306	missense	possibly damaging	0.89
IGL02897:Robo3	APN	9	37427502	nonsense	probably null
IGL03003:Robo3	APN	9	37419291	missense	probably damaging	1.00
IGL03097:Robo3	UTSW	9	37422528	critical splice donor site	probably null
R0137:Robo3	UTSW	9	37425344	missense	probably benign	0.00
R0266:Robo3	UTSW	9	37422640	missense	probably damaging	0.96
R0390:Robo3	UTSW	9	37422177	missense	probably benign	0.00
R0505:Robo3	UTSW	9	37416759	unclassified	probably benign
R0815:Robo3	UTSW	9	37422183	missense	probably damaging	1.00
R0924:Robo3	UTSW	9	37429482	splice site	probably benign
R1167:Robo3	UTSW	9	37423907	nonsense	probably null
R1203:Robo3	UTSW	9	37418682	missense	probably damaging	1.00
R1451:Robo3	UTSW	9	37417711	missense	probably benign	0.01
R1575:Robo3	UTSW	9	37429661	missense	probably damaging	1.00
R1596:Robo3	UTSW	9	37424632	critical splice donor site	probably null
R1660:Robo3	UTSW	9	37429144	missense	probably damaging	1.00
R1677:Robo3	UTSW	9	37417709	missense	possibly damaging	0.75
R1839:Robo3	UTSW	9	37422327	missense	probably benign	0.00
R1878:Robo3	UTSW	9	37422165	missense	probably damaging	1.00
R1891:Robo3	UTSW	9	37428055	missense	probably damaging	1.00
R2040:Robo3	UTSW	9	37427464	missense	probably damaging	1.00
R2859:Robo3	UTSW	9	37428104	nonsense	probably null
R3786:Robo3	UTSW	9	37422225	missense	probably damaging	1.00
R3886:Robo3	UTSW	9	37422181	nonsense	probably null
R3888:Robo3	UTSW	9	37422181	nonsense	probably null
R3910:Robo3	UTSW	9	37419295	missense	probably damaging	1.00
R4212:Robo3	UTSW	9	37421898	missense	probably damaging	1.00
R4213:Robo3	UTSW	9	37421898	missense	probably damaging	1.00
R4691:Robo3	UTSW	9	37425218	missense	probably damaging	0.99
R4979:Robo3	UTSW	9	37423344	missense	probably damaging	1.00
R5238:Robo3	UTSW	9	37416879	missense	probably damaging	0.99
R5570:Robo3	UTSW	9	37425275	missense	possibly damaging	0.81
R5629:Robo3	UTSW	9	37419211	nonsense	probably null
R5770:Robo3	UTSW	9	37419201	missense	possibly damaging	0.87
R5837:Robo3	UTSW	9	37429816	critical splice acceptor site	probably null
R6021:Robo3	UTSW	9	37422533	nonsense	probably null
R6129:Robo3	UTSW	9	37423293	missense	probably benign
R6232:Robo3	UTSW	9	37420929	missense	probably damaging	1.00
R6233:Robo3	UTSW	9	37420929	missense	probably damaging	1.00
R6235:Robo3	UTSW	9	37420929	missense	probably damaging	1.00
R6326:Robo3	UTSW	9	37427027	missense	probably damaging	1.00
R6354:Robo3	UTSW	9	37417217	unclassified	probably benign
R6355:Robo3	UTSW	9	37418939	missense	possibly damaging	0.71
R6475:Robo3	UTSW	9	37423290	missense	probably damaging	0.99
R6937:Robo3	UTSW	9	37429880	missense	probably benign	0.16
R7201:Robo3	UTSW	9	37424330	nonsense	probably null
R7208:Robo3	UTSW	9	37424724	missense	probably damaging	0.99
R7249:Robo3	UTSW	9	37424833	missense	probably benign
R7376:Robo3	UTSW	9	37432916	missense	probably damaging	1.00
R7380:Robo3	UTSW	9	37418556	missense	probably damaging	1.00
R7448:Robo3	UTSW	9	37424815	missense	possibly damaging	0.89
R7475:Robo3	UTSW	9	37425378	missense	probably benign	0.01
R7496:Robo3	UTSW	9	37427825	missense	probably damaging	1.00
R7587:Robo3	UTSW	9	37429646	missense	probably damaging	1.00
R7694:Robo3	UTSW	9	37418520	missense	probably benign	0.14
R8381:Robo3	UTSW	9	37429760	missense	probably damaging	1.00
R8464:Robo3	UTSW	9	37421430	missense	probably damaging	1.00
R8495:Robo3	UTSW	9	37425368	missense	probably damaging	1.00
R8886:Robo3	UTSW	9	37417472	missense	probably damaging	0.99
R9422:Robo3	UTSW	9	37418493	missense	probably benign	0.03
R9563:Robo3	UTSW	9	37429604	missense	probably damaging	1.00
R9564:Robo3	UTSW	9	37429604	missense	probably damaging	1.00
R9681:Robo3	UTSW	9	37423262	missense	possibly damaging	0.75
R9681:Robo3	UTSW	9	37427791	missense	probably benign	0.45
X0024:Robo3	UTSW	9	37427855	missense	probably damaging	1.00
X0027:Robo3	UTSW	9	37427825	missense	probably damaging	1.00

Posted On

2016-08-02