Incidental Mutation 'R2266:Robo1'
ID |
242069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Robo1
|
Ensembl Gene |
ENSMUSG00000022883 |
Gene Name |
roundabout guidance receptor 1 |
Synonyms |
DUTT1 |
MMRRC Submission |
040266-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2266 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72775660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 728
(F728L)
|
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: F728L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023600 Gene: ENSMUSG00000022883 AA Change: F728L
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: F737L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232264
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232545
|
Meta Mutation Damage Score |
0.0584 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (68/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,992,323 (GRCm39) |
D1143V |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,390,479 (GRCm39) |
V317A |
probably damaging |
Het |
Cdh1 |
G |
A |
8: 107,388,635 (GRCm39) |
V564I |
probably benign |
Het |
Cep250 |
T |
C |
2: 155,818,090 (GRCm39) |
V814A |
probably benign |
Het |
Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
Cyb561d1 |
A |
T |
3: 108,106,720 (GRCm39) |
H166Q |
probably damaging |
Het |
Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
Dgkd |
A |
G |
1: 87,855,540 (GRCm39) |
|
probably benign |
Het |
Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
Dnajc28 |
T |
C |
16: 91,413,200 (GRCm39) |
N372S |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,830,332 (GRCm39) |
|
probably null |
Het |
Eid1 |
A |
G |
2: 125,515,344 (GRCm39) |
D78G |
possibly damaging |
Het |
Emid1 |
T |
A |
11: 5,094,331 (GRCm39) |
Q60L |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,067,878 (GRCm39) |
V801E |
probably benign |
Het |
Foxh1 |
A |
G |
15: 76,552,820 (GRCm39) |
V298A |
probably benign |
Het |
Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
Grid2ip |
C |
T |
5: 143,371,847 (GRCm39) |
P690L |
probably benign |
Het |
H2bc9 |
T |
C |
13: 23,727,162 (GRCm39) |
K121E |
possibly damaging |
Het |
Hdhd2 |
C |
T |
18: 77,052,866 (GRCm39) |
T172M |
probably benign |
Het |
Hr |
A |
T |
14: 70,795,547 (GRCm39) |
D393V |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,025,268 (GRCm39) |
Y253C |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klra10 |
A |
G |
6: 130,246,264 (GRCm39) |
V237A |
probably benign |
Het |
Klre1 |
A |
G |
6: 129,562,593 (GRCm39) |
K206R |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
Magi3 |
G |
A |
3: 103,928,382 (GRCm39) |
|
probably benign |
Het |
Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
Med23 |
T |
G |
10: 24,750,499 (GRCm39) |
S109A |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,420,067 (GRCm39) |
V1401A |
possibly damaging |
Het |
Ncapg2 |
A |
G |
12: 116,393,296 (GRCm39) |
E500G |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,282,575 (GRCm39) |
I775V |
probably benign |
Het |
Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
Polq |
C |
A |
16: 36,882,515 (GRCm39) |
Q1560K |
possibly damaging |
Het |
Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
Ptprm |
A |
T |
17: 67,032,846 (GRCm39) |
|
probably null |
Het |
Ripk2 |
A |
T |
4: 16,152,011 (GRCm39) |
S183T |
possibly damaging |
Het |
Rttn |
A |
G |
18: 89,082,295 (GRCm39) |
N1407S |
probably benign |
Het |
Sec14l1 |
A |
T |
11: 117,047,314 (GRCm39) |
H664L |
probably damaging |
Het |
Slc10a7 |
G |
A |
8: 79,236,264 (GRCm39) |
G21S |
probably benign |
Het |
Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
Spesp1 |
A |
T |
9: 62,180,834 (GRCm39) |
L25M |
probably damaging |
Het |
St6galnac1 |
G |
A |
11: 116,658,673 (GRCm39) |
Q264* |
probably null |
Het |
Tbc1d14 |
A |
G |
5: 36,700,561 (GRCm39) |
L269P |
possibly damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,300,506 (GRCm39) |
E228G |
probably benign |
Het |
Tlr5 |
T |
A |
1: 182,802,600 (GRCm39) |
S635T |
possibly damaging |
Het |
Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
Tnfsf13b |
A |
T |
8: 10,057,306 (GRCm39) |
R125S |
probably benign |
Het |
Tymp |
A |
T |
15: 89,258,011 (GRCm39) |
V378D |
probably damaging |
Het |
Vmn1r38 |
G |
T |
6: 66,753,433 (GRCm39) |
Q228K |
probably benign |
Het |
Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
Xrn1 |
A |
G |
9: 95,888,765 (GRCm39) |
D948G |
possibly damaging |
Het |
Zfp280d |
C |
A |
9: 72,209,052 (GRCm39) |
|
probably benign |
Het |
Zfp418 |
G |
A |
7: 7,185,807 (GRCm39) |
R590K |
probably benign |
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 |
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 |
R5629:Robo1
|
UTSW |
16 |
72,780,598 (GRCm39) |
missense |
probably benign |
0.33 |
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'- AAAATTCTCTACCGCCCATCTG -3'
(R):5'- AGGCACGACTAAAGCAAGTC -3'
Sequencing Primer
(F):5'- CATCTGGAGCCAGCCATG -3'
(R):5'- GCAAGTCACTTACGTTTACCAGAG -3'
|
Posted On |
2014-10-16 |