Incidental Mutation 'R8381:Robo3'
| ID |
646950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Robo3
|
| Ensembl Gene |
ENSMUSG00000032128 |
| Gene Name |
roundabout guidance receptor 3 |
| Synonyms |
Robo3a, Rbig1, Rig1, Rig-1, Robo3b |
| MMRRC Submission |
067748-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37327341-37344730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37341056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 72
(D72V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110690
(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: D50V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034643
Gene: ENSMUSG00000032128
AA Change: D50V
| 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: D72V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110690
Gene: ENSMUSG00000032128
AA Change: D72V
| 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 |
probably damaging
Transcript: ENSMUST00000170512
AA Change: D50V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,879,282 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Adam34 |
A |
G |
8: 44,104,847 (GRCm39) |
I266T |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,302,952 (GRCm39) |
N2507S |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,527,710 (GRCm39) |
D144G |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,177,470 (GRCm39) |
S346P |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,114 (GRCm39) |
F270S |
probably benign |
Het |
| Fnip2 |
T |
A |
3: 79,373,000 (GRCm39) |
D1026V |
probably damaging |
Het |
| Fubp3 |
G |
A |
2: 31,482,509 (GRCm39) |
|
probably null |
Het |
| Gjb6 |
T |
C |
14: 57,361,919 (GRCm39) |
E114G |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,949,930 (GRCm39) |
M1V |
probably null |
Het |
| Hey2 |
A |
G |
10: 30,709,986 (GRCm39) |
S256P |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,337,920 (GRCm39) |
H590Q |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,317,453 (GRCm39) |
H192Q |
probably damaging |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,501 (GRCm39) |
Q81L |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,325 (GRCm39) |
H51L |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,895 (GRCm39) |
V218E |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,438,991 (GRCm39) |
D1190G |
probably benign |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,447 (GRCm39) |
Y198H |
probably damaging |
Het |
| Nlrp6 |
C |
T |
7: 140,503,754 (GRCm39) |
A620V |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,146 (GRCm39) |
F164L |
|
Het |
| Or5h22 |
A |
G |
16: 58,895,225 (GRCm39) |
S73P |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,808,373 (GRCm39) |
I256V |
probably benign |
Het |
| Pcbp4 |
G |
A |
9: 106,338,488 (GRCm39) |
A138T |
probably damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,881 (GRCm39) |
T255I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Slc16a5 |
A |
G |
11: 115,360,716 (GRCm39) |
S300G |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,822,566 (GRCm39) |
R670W |
probably damaging |
Het |
| Smok3c |
C |
T |
5: 138,063,824 (GRCm39) |
T437I |
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,672,333 (GRCm39) |
I931V |
probably benign |
Het |
| Syk |
T |
C |
13: 52,787,085 (GRCm39) |
Y383H |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,225,972 (GRCm39) |
S886T |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,545,594 (GRCm39) |
M321V |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,132,166 (GRCm39) |
L598P |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,219,456 (GRCm39) |
I648L |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,447,676 (GRCm39) |
K1126T |
probably benign |
Het |
| Zfp729b |
T |
C |
13: 67,739,617 (GRCm39) |
T883A |
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 |
|
|
IGL01023:Robo3
|
APN |
9 |
37,340,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACACAGGTGTAGACAC -3'
(R):5'- TGTAGATGACTCTCTAGCAAAGG -3'
Sequencing Primer
(F):5'- TGTAGACACCCTCGTCAGG -3'
(R):5'- TGACTCTCTAGCAAAGGAAGCATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation