Incidental Mutation 'R5629:Robo1'
ID |
501350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Robo1
|
Ensembl Gene |
ENSMUSG00000022883 |
Gene Name |
roundabout guidance receptor 1 |
Synonyms |
DUTT1 |
MMRRC Submission |
043280-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5629 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72780598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 776
(V776A)
|
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: V776A
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000023600 Gene: ENSMUSG00000022883 AA Change: V776A
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: ENSMUST00000231566
|
Predicted Effect |
unknown
Transcript: ENSMUST00000232205
AA Change: V785A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232264
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232545
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
G |
A |
5: 36,014,507 (GRCm39) |
D189N |
probably benign |
Het |
Adamts9 |
A |
T |
6: 92,775,114 (GRCm39) |
V1052D |
probably damaging |
Het |
Apob |
T |
C |
12: 8,057,847 (GRCm39) |
Y2077H |
probably damaging |
Het |
Apol7e |
A |
T |
15: 77,602,276 (GRCm39) |
K291N |
probably benign |
Het |
Arsk |
A |
T |
13: 76,242,027 (GRCm39) |
I82N |
probably damaging |
Het |
Art1 |
A |
G |
7: 101,756,286 (GRCm39) |
Q159R |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,598,159 (GRCm39) |
V733A |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,666,130 (GRCm39) |
|
probably null |
Het |
Catsper1 |
C |
T |
19: 5,386,165 (GRCm39) |
P133S |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,726,266 (GRCm39) |
D3165G |
probably benign |
Het |
Cldn19 |
T |
A |
4: 119,114,116 (GRCm39) |
V86E |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,382,802 (GRCm39) |
D649E |
probably benign |
Het |
Cttnbp2 |
A |
G |
6: 18,405,217 (GRCm39) |
I1094T |
probably damaging |
Het |
Ddx24 |
T |
C |
12: 103,391,806 (GRCm39) |
|
probably benign |
Het |
Ern2 |
T |
A |
7: 121,769,389 (GRCm39) |
H879L |
probably damaging |
Het |
Etv4 |
T |
A |
11: 101,662,751 (GRCm39) |
H277L |
probably damaging |
Het |
Faap100 |
G |
T |
11: 120,267,837 (GRCm39) |
A312D |
probably damaging |
Het |
Glipr1l1 |
G |
A |
10: 111,914,308 (GRCm39) |
C223Y |
possibly damaging |
Het |
Gna14 |
T |
C |
19: 16,414,097 (GRCm39) |
S14P |
possibly damaging |
Het |
Hapln1 |
A |
G |
13: 89,749,634 (GRCm39) |
T60A |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,921,719 (GRCm39) |
Y273* |
probably null |
Het |
Ighv5-6 |
A |
T |
12: 113,589,242 (GRCm39) |
Y79* |
probably null |
Het |
Iqgap2 |
T |
A |
13: 95,768,682 (GRCm39) |
N1406I |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,860,304 (GRCm39) |
T215A |
possibly damaging |
Het |
Krtap13-1 |
T |
A |
16: 88,526,047 (GRCm39) |
S90R |
probably benign |
Het |
Mettl8 |
T |
C |
2: 70,795,913 (GRCm39) |
I372V |
probably benign |
Het |
Mfn1 |
A |
T |
3: 32,615,659 (GRCm39) |
T341S |
possibly damaging |
Het |
Mocos |
T |
A |
18: 24,797,142 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,036 (GRCm39) |
S2661P |
possibly damaging |
Het |
Myo15a |
C |
T |
11: 60,370,578 (GRCm39) |
P1113S |
probably benign |
Het |
Myo5a |
A |
T |
9: 75,111,127 (GRCm39) |
I1540F |
possibly damaging |
Het |
Myoc |
T |
C |
1: 162,476,156 (GRCm39) |
Y287H |
probably damaging |
Het |
Napepld |
A |
G |
5: 21,880,901 (GRCm39) |
F165L |
probably benign |
Het |
Ndufb10 |
T |
C |
17: 24,941,656 (GRCm39) |
E102G |
probably damaging |
Het |
Nrros |
T |
A |
16: 31,963,223 (GRCm39) |
I265F |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,897,460 (GRCm39) |
F891I |
possibly damaging |
Het |
Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
Oas2 |
G |
A |
5: 120,876,516 (GRCm39) |
Q476* |
probably null |
Het |
Or51f5 |
A |
T |
7: 102,423,847 (GRCm39) |
I39F |
possibly damaging |
Het |
Pcnx2 |
C |
A |
8: 126,624,780 (GRCm39) |
W14L |
probably damaging |
Het |
Pip4p1 |
T |
C |
14: 51,165,373 (GRCm39) |
H278R |
probably benign |
Het |
Piwil2 |
C |
T |
14: 70,660,416 (GRCm39) |
V70M |
probably damaging |
Het |
Prss23 |
A |
C |
7: 89,159,400 (GRCm39) |
V223G |
probably damaging |
Het |
Rarres2 |
A |
T |
6: 48,547,194 (GRCm39) |
L122Q |
probably benign |
Het |
Robo3 |
G |
A |
9: 37,330,507 (GRCm39) |
Q1008* |
probably null |
Het |
Robo4 |
G |
A |
9: 37,319,658 (GRCm39) |
C636Y |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,395,464 (GRCm39) |
M196V |
probably benign |
Het |
Septin7 |
T |
A |
9: 25,199,589 (GRCm39) |
Y163N |
probably damaging |
Het |
Skint6 |
G |
A |
4: 112,870,176 (GRCm39) |
T594I |
possibly damaging |
Het |
Slc23a1 |
T |
C |
18: 35,759,545 (GRCm39) |
H13R |
probably benign |
Het |
Slc25a39 |
A |
C |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
Slc8a3 |
G |
A |
12: 81,246,405 (GRCm39) |
R883C |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,987,435 (GRCm39) |
Y1575F |
probably benign |
Het |
Spdye4c |
T |
A |
2: 128,438,705 (GRCm39) |
I321N |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,614,576 (GRCm39) |
P311S |
probably damaging |
Het |
Svs3a |
T |
A |
2: 164,132,040 (GRCm39) |
S203T |
probably benign |
Het |
Taf3 |
A |
T |
2: 9,922,989 (GRCm39) |
I45N |
probably damaging |
Het |
Taf7 |
T |
C |
18: 37,776,555 (GRCm39) |
N4S |
probably benign |
Het |
Tial1 |
T |
A |
7: 128,046,421 (GRCm39) |
D87V |
probably damaging |
Het |
Tmem120a |
T |
A |
5: 135,770,904 (GRCm39) |
E78V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,183,165 (GRCm39) |
F137L |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trim30d |
T |
C |
7: 104,137,136 (GRCm39) |
K23E |
possibly damaging |
Het |
Ubxn7 |
C |
A |
16: 32,151,117 (GRCm39) |
H4Q |
unknown |
Het |
Usp40 |
C |
T |
1: 87,908,731 (GRCm39) |
R590H |
probably benign |
Het |
Vmn1r90 |
A |
G |
7: 14,296,011 (GRCm39) |
M22T |
possibly damaging |
Het |
Vmn2r1 |
G |
A |
3: 64,012,538 (GRCm39) |
V800M |
possibly damaging |
Het |
Vps11 |
A |
T |
9: 44,267,673 (GRCm39) |
I313N |
probably damaging |
Het |
Zhx1 |
A |
G |
15: 57,918,207 (GRCm39) |
V13A |
probably damaging |
Het |
Zic4 |
G |
A |
9: 91,260,805 (GRCm39) |
R20H |
probably benign |
Het |
Zp3r |
C |
T |
1: 130,510,616 (GRCm39) |
V369M |
probably damaging |
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 |
|
R0563:Robo1
|
UTSW |
16 |
72,769,174 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- CATGAGAGAACATAAGAGCTATTGC -3'
(R):5'- GACAAATCACGTGACGCTTAC -3'
Sequencing Primer
(F):5'- GCTATTGCTGATATTCAACGTGAC -3'
(R):5'- ACGTGACGCTTACCTAACTGGATG -3'
|
Posted On |
2017-12-01 |