Incidental Mutation 'R8218:Robo1'
ID |
636513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Robo1
|
Ensembl Gene |
ENSMUSG00000022883 |
Gene Name |
roundabout guidance receptor 1 |
Synonyms |
DUTT1 |
MMRRC Submission |
067637-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8218 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 72786678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 897
(R897G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023600]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023600
AA Change: R897G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023600 Gene: ENSMUSG00000022883 AA Change: R897G
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
99% (72/73) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
G |
A |
15: 84,839,668 (GRCm39) |
H191Y |
probably damaging |
Het |
5730480H06Rik |
T |
A |
5: 48,536,769 (GRCm39) |
L155* |
probably null |
Het |
Ackr4 |
T |
C |
9: 103,976,410 (GRCm39) |
N179S |
probably benign |
Het |
Acp5 |
T |
C |
9: 22,040,902 (GRCm39) |
Y107C |
probably damaging |
Het |
Aff4 |
A |
T |
11: 53,289,084 (GRCm39) |
H411L |
probably damaging |
Het |
Atp5pb |
A |
G |
3: 105,866,502 (GRCm39) |
M1T |
probably null |
Het |
Atp8b5 |
G |
A |
4: 43,372,728 (GRCm39) |
|
probably null |
Het |
C1qtnf2 |
A |
G |
11: 43,381,775 (GRCm39) |
T166A |
possibly damaging |
Het |
Dctn2 |
A |
G |
10: 127,112,398 (GRCm39) |
D170G |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,384,622 (GRCm39) |
S10T |
probably benign |
Het |
Ehbp1 |
T |
C |
11: 22,046,096 (GRCm39) |
Y551C |
possibly damaging |
Het |
Eif4g2 |
A |
T |
7: 110,673,639 (GRCm39) |
D743E |
possibly damaging |
Het |
Esr1 |
G |
A |
10: 4,696,808 (GRCm39) |
|
probably null |
Het |
Exo1 |
A |
T |
1: 175,728,480 (GRCm39) |
I515L |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Garin1a |
T |
C |
6: 29,286,072 (GRCm39) |
I177T |
probably damaging |
Het |
Gcn1 |
G |
A |
5: 115,719,588 (GRCm39) |
S361N |
probably benign |
Het |
Gm6337 |
C |
T |
14: 6,050,613 (GRCm38) |
|
probably null |
Het |
Grk4 |
T |
A |
5: 34,826,540 (GRCm39) |
S47T |
probably benign |
Het |
Gstp2 |
C |
A |
19: 4,091,668 (GRCm39) |
M20I |
probably benign |
Het |
Harbi1 |
T |
C |
2: 91,543,237 (GRCm39) |
F233L |
probably benign |
Het |
Iqch |
C |
T |
9: 63,389,915 (GRCm39) |
V755I |
possibly damaging |
Het |
Iws1 |
T |
C |
18: 32,226,688 (GRCm39) |
F756L |
probably benign |
Het |
Kcnh6 |
T |
G |
11: 105,908,200 (GRCm39) |
V272G |
possibly damaging |
Het |
Kcnj10 |
C |
T |
1: 172,196,539 (GRCm39) |
R18C |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,488,104 (GRCm39) |
S4670A |
probably damaging |
Het |
Krt80 |
T |
G |
15: 101,267,884 (GRCm39) |
M18L |
probably benign |
Het |
Lbx1 |
A |
G |
19: 45,223,359 (GRCm39) |
V103A |
probably benign |
Het |
Marchf8 |
A |
T |
6: 116,315,059 (GRCm39) |
|
probably benign |
Het |
Muc16 |
T |
A |
9: 18,548,315 (GRCm39) |
T5993S |
possibly damaging |
Het |
Or10ag57 |
C |
T |
2: 87,218,922 (GRCm39) |
T291I |
probably damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,685 (GRCm39) |
T224A |
probably benign |
Het |
Or1o4 |
A |
G |
17: 37,590,711 (GRCm39) |
V200A |
probably benign |
Het |
Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
Pbxip1 |
A |
G |
3: 89,352,902 (GRCm39) |
I183V |
probably benign |
Het |
Pcdh20 |
T |
A |
14: 88,706,047 (GRCm39) |
I418F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,725,677 (GRCm39) |
F1512L |
unknown |
Het |
Phf2 |
G |
T |
13: 48,958,104 (GRCm39) |
T970K |
unknown |
Het |
Pidd1 |
A |
G |
7: 141,019,566 (GRCm39) |
V698A |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,491,996 (GRCm39) |
V198D |
possibly damaging |
Het |
Pip5k1c |
T |
A |
10: 81,142,250 (GRCm39) |
D153E |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,699,236 (GRCm39) |
D795G |
probably benign |
Het |
Pramel12 |
A |
T |
4: 143,145,706 (GRCm39) |
I392F |
probably benign |
Het |
Prkar2a |
C |
A |
9: 108,596,448 (GRCm39) |
A131D |
possibly damaging |
Het |
Pter |
A |
G |
2: 12,985,366 (GRCm39) |
D232G |
probably damaging |
Het |
Qser1 |
C |
T |
2: 104,593,268 (GRCm39) |
R1583Q |
probably damaging |
Het |
Rasal2 |
A |
C |
1: 156,984,951 (GRCm39) |
V932G |
probably damaging |
Het |
Rasgrf2 |
G |
A |
13: 92,130,796 (GRCm39) |
A154V |
|
Het |
Rbm4 |
A |
G |
19: 4,837,444 (GRCm39) |
Y347H |
probably damaging |
Het |
Rfxank |
C |
A |
8: 70,584,085 (GRCm39) |
|
probably null |
Het |
Sash1 |
G |
A |
10: 8,627,000 (GRCm39) |
T364I |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,696,471 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
T |
A |
11: 53,877,407 (GRCm39) |
M495L |
probably benign |
Het |
Slc39a8 |
G |
A |
3: 135,563,325 (GRCm39) |
V212I |
probably benign |
Het |
Slc40a1 |
A |
C |
1: 45,950,129 (GRCm39) |
V441G |
probably benign |
Het |
Slc7a11 |
A |
T |
3: 50,378,501 (GRCm39) |
Y246N |
probably damaging |
Het |
Spata9 |
T |
C |
13: 76,125,892 (GRCm39) |
V125A |
probably benign |
Het |
Svopl |
T |
A |
6: 37,991,741 (GRCm39) |
M380L |
probably benign |
Het |
Sycp2l |
T |
C |
13: 41,271,544 (GRCm39) |
Y23H |
probably damaging |
Het |
Syt11 |
A |
T |
3: 88,669,427 (GRCm39) |
V155E |
probably benign |
Het |
Syt5 |
T |
C |
7: 4,545,822 (GRCm39) |
Y147C |
probably damaging |
Het |
Thg1l |
T |
C |
11: 45,846,277 (GRCm39) |
T6A |
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,745,546 (GRCm39) |
L179P |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,232,984 (GRCm39) |
Y107N |
probably damaging |
Het |
Tspan32 |
A |
T |
7: 142,564,832 (GRCm39) |
Y114F |
probably benign |
Het |
Tube1 |
A |
C |
10: 39,023,375 (GRCm39) |
S341R |
possibly damaging |
Het |
Ubn2 |
T |
A |
6: 38,466,214 (GRCm39) |
V516D |
probably benign |
Het |
Vmn1r21 |
G |
T |
6: 57,820,910 (GRCm39) |
T178K |
noncoding transcript |
Het |
Vmn2r108 |
A |
G |
17: 20,683,465 (GRCm39) |
Y580H |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,857,342 (GRCm39) |
F546L |
probably damaging |
Het |
Yy1 |
A |
G |
12: 108,759,619 (GRCm39) |
D94G |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
Zfy2 |
T |
C |
Y: 2,133,421 (GRCm39) |
T9A |
unknown |
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 |
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 |
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'- ACCTTTCAGATTCTCACGGAAACC -3'
(R):5'- CAAAACCTAGGCAGTGGGTTC -3'
Sequencing Primer
(F):5'- AAACCCCGTGTCTCCCGAG -3'
(R):5'- GTTCTGAGGCTGACAAATTCG -3'
|
Posted On |
2020-07-13 |