Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01023:Robo3'

53785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Robo3

Ensembl Gene

ENSMUSG00000032128

Gene Name

roundabout guidance receptor 3

Synonyms

Robo3a, Rbig1, Rig1, Rig-1, Robo3b

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01023

Quality Score

Status

Chromosome

Chromosomal Location

37327341-37344730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37340847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 120 (T120A)

Ref Sequence

ENSEMBL: ENSMUSP00000034643 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034643
AA Change: T120A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034643
Gene: ENSMUSG00000032128
AA Change: T120A

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

probably damaging
Transcript: ENSMUST00000115038
AA Change: T142A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110690
Gene: ENSMUSG00000032128
AA Change: T142A

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

possibly damaging
Transcript: ENSMUST00000170512
AA Change: T120A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,471,649 (GRCm39)	L1472P	probably damaging	Het
Col18a1	C	T	10: 76,906,809 (GRCm39)	V1151M	probably damaging	Het
Crmp1	A	T	5: 37,433,657 (GRCm39)	D286V	probably damaging	Het
Ddx60	A	T	8: 62,395,548 (GRCm39)	I162F	probably damaging	Het
Fam24b	A	T	7: 130,927,903 (GRCm39)	C95*	probably null	Het
Fsd1	A	G	17: 56,295,245 (GRCm39)	Y78C	probably damaging	Het
Galc	C	T	12: 98,197,681 (GRCm39)	V343I	probably benign	Het
Glis2	C	T	16: 4,429,514 (GRCm39)	R214C	probably damaging	Het
Gm14406	A	T	2: 177,261,032 (GRCm39)	C416S	probably damaging	Het
Gnat3	T	C	5: 18,208,826 (GRCm39)	S177P	probably damaging	Het
Higd1a	C	T	9: 121,678,749 (GRCm39)	G80D	possibly damaging	Het
Hp1bp3	T	C	4: 137,967,940 (GRCm39)	V421A	possibly damaging	Het
Ipo11	A	T	13: 107,033,767 (GRCm39)	F238L	probably benign	Het
Med26	A	T	8: 73,249,718 (GRCm39)	F460L	possibly damaging	Het
Or5as1	T	A	2: 86,980,169 (GRCm39)	T279S	possibly damaging	Het
Osbp2	T	C	11: 3,813,387 (GRCm39)	I161V	probably benign	Het
Prr5	T	C	15: 84,583,856 (GRCm39)	V152A	possibly damaging	Het
Prx	T	A	7: 27,218,844 (GRCm39)	I1115K	probably benign	Het
Ptpn22	A	G	3: 103,810,690 (GRCm39)	I708M	probably benign	Het
Setd2	C	A	9: 110,376,581 (GRCm39)	S132*	probably null	Het
Slc9a1	A	G	4: 133,149,454 (GRCm39)	E760G	probably benign	Het
Slco1a7	A	G	6: 141,700,155 (GRCm39)	S126P	probably benign	Het
Stx16	A	T	2: 173,934,202 (GRCm39)	H135L	probably damaging	Het
Tas2r131	A	T	6: 132,934,764 (GRCm39)	L15Q	probably damaging	Het
Thoc2l	T	A	5: 104,668,366 (GRCm39)	W963R	probably damaging	Het
Tmcc1	A	G	6: 116,019,988 (GRCm39)	L128P	probably damaging	Het
Tmem269	C	A	4: 119,066,511 (GRCm39)	M182I	probably benign	Het
Tnfaip8l2	A	G	3: 95,047,726 (GRCm39)	S46P	probably damaging	Het
Trim30c	A	G	7: 104,032,179 (GRCm39)		probably benign	Het
Unc13a	C	T	8: 72,114,469 (GRCm39)	E184K	probably benign	Het
Wfs1	A	T	5: 37,125,261 (GRCm39)	C467*	probably null	Het
Zfp78	G	A	7: 6,378,587 (GRCm39)	G77D	possibly damaging	Het

Other mutations in Robo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Robo3	APN	9	37,339,050 (GRCm39)	critical splice donor site	probably null
IGL01431:Robo3	APN	9	37,330,407 (GRCm39)	unclassified	probably benign
IGL01993:Robo3	APN	9	37,335,949 (GRCm39)	missense	probably damaging	1.00
IGL02256:Robo3	APN	9	37,336,649 (GRCm39)	missense	probably damaging	1.00
IGL02323:Robo3	APN	9	37,333,497 (GRCm39)	missense	probably benign	0.05
IGL02561:Robo3	APN	9	37,338,387 (GRCm39)	missense	possibly damaging	0.84
IGL02866:Robo3	APN	9	37,333,602 (GRCm39)	missense	possibly damaging	0.89
IGL02897:Robo3	APN	9	37,338,798 (GRCm39)	nonsense	probably null
IGL03003:Robo3	APN	9	37,330,587 (GRCm39)	missense	probably damaging	1.00
IGL03307:Robo3	APN	9	37,333,860 (GRCm39)	missense	probably damaging	0.96
IGL03097:Robo3	UTSW	9	37,333,824 (GRCm39)	critical splice donor site	probably null
R0137:Robo3	UTSW	9	37,336,640 (GRCm39)	missense	probably benign	0.00
R0266:Robo3	UTSW	9	37,333,936 (GRCm39)	missense	probably damaging	0.96
R0390:Robo3	UTSW	9	37,333,473 (GRCm39)	missense	probably benign	0.00
R0505:Robo3	UTSW	9	37,328,055 (GRCm39)	unclassified	probably benign
R0815:Robo3	UTSW	9	37,333,479 (GRCm39)	missense	probably damaging	1.00
R0924:Robo3	UTSW	9	37,340,778 (GRCm39)	splice site	probably benign
R1167:Robo3	UTSW	9	37,335,203 (GRCm39)	nonsense	probably null
R1203:Robo3	UTSW	9	37,329,978 (GRCm39)	missense	probably damaging	1.00
R1451:Robo3	UTSW	9	37,329,007 (GRCm39)	missense	probably benign	0.01
R1575:Robo3	UTSW	9	37,340,957 (GRCm39)	missense	probably damaging	1.00
R1596:Robo3	UTSW	9	37,335,928 (GRCm39)	critical splice donor site	probably null
R1660:Robo3	UTSW	9	37,340,440 (GRCm39)	missense	probably damaging	1.00
R1677:Robo3	UTSW	9	37,329,005 (GRCm39)	missense	possibly damaging	0.75
R1839:Robo3	UTSW	9	37,333,623 (GRCm39)	missense	probably benign	0.00
R1878:Robo3	UTSW	9	37,333,461 (GRCm39)	missense	probably damaging	1.00
R1891:Robo3	UTSW	9	37,339,351 (GRCm39)	missense	probably damaging	1.00
R2040:Robo3	UTSW	9	37,338,760 (GRCm39)	missense	probably damaging	1.00
R2859:Robo3	UTSW	9	37,339,400 (GRCm39)	nonsense	probably null
R3786:Robo3	UTSW	9	37,333,521 (GRCm39)	missense	probably damaging	1.00
R3886:Robo3	UTSW	9	37,333,477 (GRCm39)	nonsense	probably null
R3888:Robo3	UTSW	9	37,333,477 (GRCm39)	nonsense	probably null
R3910:Robo3	UTSW	9	37,330,591 (GRCm39)	missense	probably damaging	1.00
R4212:Robo3	UTSW	9	37,333,194 (GRCm39)	missense	probably damaging	1.00
R4213:Robo3	UTSW	9	37,333,194 (GRCm39)	missense	probably damaging	1.00
R4691:Robo3	UTSW	9	37,336,514 (GRCm39)	missense	probably damaging	0.99
R4979:Robo3	UTSW	9	37,334,640 (GRCm39)	missense	probably damaging	1.00
R5238:Robo3	UTSW	9	37,328,175 (GRCm39)	missense	probably damaging	0.99
R5570:Robo3	UTSW	9	37,336,571 (GRCm39)	missense	possibly damaging	0.81
R5629:Robo3	UTSW	9	37,330,507 (GRCm39)	nonsense	probably null
R5770:Robo3	UTSW	9	37,330,497 (GRCm39)	missense	possibly damaging	0.87
R5837:Robo3	UTSW	9	37,341,112 (GRCm39)	critical splice acceptor site	probably null
R6021:Robo3	UTSW	9	37,333,829 (GRCm39)	nonsense	probably null
R6129:Robo3	UTSW	9	37,334,589 (GRCm39)	missense	probably benign
R6232:Robo3	UTSW	9	37,332,225 (GRCm39)	missense	probably damaging	1.00
R6233:Robo3	UTSW	9	37,332,225 (GRCm39)	missense	probably damaging	1.00
R6235:Robo3	UTSW	9	37,332,225 (GRCm39)	missense	probably damaging	1.00
R6326:Robo3	UTSW	9	37,338,323 (GRCm39)	missense	probably damaging	1.00
R6354:Robo3	UTSW	9	37,328,513 (GRCm39)	unclassified	probably benign
R6355:Robo3	UTSW	9	37,330,235 (GRCm39)	missense	possibly damaging	0.71
R6475:Robo3	UTSW	9	37,334,586 (GRCm39)	missense	probably damaging	0.99
R6937:Robo3	UTSW	9	37,341,176 (GRCm39)	missense	probably benign	0.16
R7201:Robo3	UTSW	9	37,335,626 (GRCm39)	nonsense	probably null
R7208:Robo3	UTSW	9	37,336,020 (GRCm39)	missense	probably damaging	0.99
R7249:Robo3	UTSW	9	37,336,129 (GRCm39)	missense	probably benign
R7376:Robo3	UTSW	9	37,344,212 (GRCm39)	missense	probably damaging	1.00
R7380:Robo3	UTSW	9	37,329,852 (GRCm39)	missense	probably damaging	1.00
R7448:Robo3	UTSW	9	37,336,111 (GRCm39)	missense	possibly damaging	0.89
R7475:Robo3	UTSW	9	37,336,674 (GRCm39)	missense	probably benign	0.01
R7496:Robo3	UTSW	9	37,339,121 (GRCm39)	missense	probably damaging	1.00
R7587:Robo3	UTSW	9	37,340,942 (GRCm39)	missense	probably damaging	1.00
R7694:Robo3	UTSW	9	37,329,816 (GRCm39)	missense	probably benign	0.14
R8381:Robo3	UTSW	9	37,341,056 (GRCm39)	missense	probably damaging	1.00
R8464:Robo3	UTSW	9	37,332,726 (GRCm39)	missense	probably damaging	1.00
R8495:Robo3	UTSW	9	37,336,664 (GRCm39)	missense	probably damaging	1.00
R8886:Robo3	UTSW	9	37,328,768 (GRCm39)	missense	probably damaging	0.99
R9422:Robo3	UTSW	9	37,329,789 (GRCm39)	missense	probably benign	0.03
R9563:Robo3	UTSW	9	37,340,900 (GRCm39)	missense	probably damaging	1.00
R9564:Robo3	UTSW	9	37,340,900 (GRCm39)	missense	probably damaging	1.00
R9681:Robo3	UTSW	9	37,339,087 (GRCm39)	missense	probably benign	0.45
R9681:Robo3	UTSW	9	37,334,558 (GRCm39)	missense	possibly damaging	0.75
X0024:Robo3	UTSW	9	37,339,151 (GRCm39)	missense	probably damaging	1.00
X0027:Robo3	UTSW	9	37,339,121 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28