Incidental Mutation 'P0025:Slit2'
ID |
7770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slit2
|
Ensembl Gene |
ENSMUSG00000031558 |
Gene Name |
slit guidance ligand 2 |
Synonyms |
E030015M03Rik, Drad-1, b2b1200.1Clo, Slil3, E130320P19Rik |
MMRRC Submission |
038278-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
P0025 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
48140480-48465075 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48461377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 1458
(Y1458H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033967]
[ENSMUST00000170109]
[ENSMUST00000173107]
[ENSMUST00000173686]
[ENSMUST00000174313]
[ENSMUST00000174421]
|
AlphaFold |
Q9R1B9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033967
|
SMART Domains |
Protein: ENSMUSP00000033967 Gene: ENSMUSG00000031558
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
LRR
|
53 |
77 |
1.41e2 |
SMART |
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
LRR
|
102 |
125 |
2.45e0 |
SMART |
LRR
|
126 |
149 |
9.96e-1 |
SMART |
LRR
|
154 |
173 |
1.29e2 |
SMART |
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
LRRNT
|
272 |
304 |
4.55e-8 |
SMART |
LRR
|
298 |
322 |
3e1 |
SMART |
LRR_TYP
|
323 |
346 |
1.95e-3 |
SMART |
LRR_TYP
|
347 |
370 |
2.24e-3 |
SMART |
LRR
|
371 |
394 |
1.31e0 |
SMART |
LRR
|
395 |
418 |
2.49e-1 |
SMART |
LRRCT
|
430 |
479 |
1.88e-6 |
SMART |
LRRNT
|
497 |
529 |
1.45e-6 |
SMART |
LRR_TYP
|
549 |
572 |
1.38e-3 |
SMART |
LRR
|
597 |
620 |
9.96e-1 |
SMART |
LRR_TYP
|
621 |
644 |
2.71e-2 |
SMART |
LRRCT
|
656 |
705 |
3.56e-7 |
SMART |
LRRNT
|
718 |
750 |
3.69e-8 |
SMART |
LRR
|
768 |
791 |
7.36e0 |
SMART |
LRR_TYP
|
792 |
815 |
5.59e-4 |
SMART |
LRR_TYP
|
816 |
839 |
7.9e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170109
AA Change: Y1466H
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127615 Gene: ENSMUSG00000031558 AA Change: Y1466H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
LRR
|
53 |
77 |
1.41e2 |
SMART |
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
LRR
|
102 |
125 |
2.45e0 |
SMART |
LRR
|
126 |
149 |
9.96e-1 |
SMART |
LRR
|
154 |
173 |
1.29e2 |
SMART |
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
LRRNT
|
272 |
304 |
4.55e-8 |
SMART |
LRR
|
298 |
322 |
3e1 |
SMART |
LRR_TYP
|
323 |
346 |
1.95e-3 |
SMART |
LRR_TYP
|
347 |
370 |
2.24e-3 |
SMART |
LRR
|
371 |
394 |
1.31e0 |
SMART |
LRR
|
395 |
418 |
2.49e-1 |
SMART |
LRRCT
|
430 |
479 |
1.88e-6 |
SMART |
LRRNT
|
497 |
529 |
1.45e-6 |
SMART |
LRR_TYP
|
549 |
572 |
1.38e-3 |
SMART |
LRR
|
597 |
620 |
9.96e-1 |
SMART |
LRR_TYP
|
621 |
644 |
2.71e-2 |
SMART |
LRRCT
|
656 |
705 |
3.56e-7 |
SMART |
LRRNT
|
718 |
750 |
3.69e-8 |
SMART |
LRR
|
768 |
791 |
7.36e0 |
SMART |
LRR_TYP
|
792 |
815 |
5.59e-4 |
SMART |
LRR_TYP
|
816 |
839 |
7.9e-4 |
SMART |
LRRCT
|
851 |
900 |
3.9e-13 |
SMART |
EGF
|
913 |
947 |
3.73e-5 |
SMART |
EGF
|
952 |
988 |
4.35e-6 |
SMART |
EGF_CA
|
990 |
1026 |
2.21e-7 |
SMART |
FOLN
|
993 |
1015 |
5.84e1 |
SMART |
EGF
|
1031 |
1066 |
1.07e-5 |
SMART |
EGF_CA
|
1068 |
1104 |
3.97e-9 |
SMART |
FOLN
|
1116 |
1138 |
2.22e0 |
SMART |
EGF
|
1116 |
1149 |
1.62e-5 |
SMART |
LamG
|
1172 |
1308 |
4.82e-39 |
SMART |
EGF
|
1327 |
1360 |
3.68e-4 |
SMART |
EGF
|
1366 |
1399 |
3.88e-3 |
SMART |
FOLN
|
1407 |
1429 |
3.34e0 |
SMART |
EGF
|
1407 |
1440 |
4.46e-3 |
SMART |
CT
|
1451 |
1520 |
4.23e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173107
AA Change: Y1454H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133840 Gene: ENSMUSG00000031558 AA Change: Y1454H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
LRR
|
53 |
77 |
1.41e2 |
SMART |
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
LRR
|
102 |
125 |
2.45e0 |
SMART |
LRR
|
126 |
149 |
9.96e-1 |
SMART |
LRR
|
154 |
173 |
1.29e2 |
SMART |
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
LRRNT
|
272 |
304 |
4.55e-8 |
SMART |
LRR
|
298 |
322 |
3e1 |
SMART |
LRR_TYP
|
323 |
346 |
1.95e-3 |
SMART |
LRR_TYP
|
347 |
370 |
2.24e-3 |
SMART |
LRR
|
371 |
394 |
1.31e0 |
SMART |
LRR
|
395 |
418 |
2.49e-1 |
SMART |
LRRCT
|
430 |
479 |
1.88e-6 |
SMART |
LRRNT
|
505 |
537 |
1.45e-6 |
SMART |
LRR_TYP
|
557 |
580 |
1.38e-3 |
SMART |
LRR
|
605 |
628 |
9.96e-1 |
SMART |
LRR_TYP
|
629 |
652 |
2.71e-2 |
SMART |
LRRCT
|
664 |
713 |
3.56e-7 |
SMART |
LRRNT
|
726 |
758 |
3.69e-8 |
SMART |
LRR
|
776 |
799 |
7.36e0 |
SMART |
LRR_TYP
|
800 |
823 |
5.59e-4 |
SMART |
LRR_TYP
|
824 |
847 |
7.9e-4 |
SMART |
LRRCT
|
859 |
908 |
3.9e-13 |
SMART |
EGF
|
921 |
955 |
3.73e-5 |
SMART |
EGF
|
960 |
996 |
4.35e-6 |
SMART |
EGF_CA
|
998 |
1034 |
2.21e-7 |
SMART |
FOLN
|
1001 |
1023 |
5.84e1 |
SMART |
EGF
|
1039 |
1074 |
1.07e-5 |
SMART |
EGF_CA
|
1076 |
1112 |
3.97e-9 |
SMART |
FOLN
|
1124 |
1146 |
2.22e0 |
SMART |
EGF
|
1124 |
1157 |
1.62e-5 |
SMART |
LamG
|
1180 |
1316 |
4.82e-39 |
SMART |
EGF
|
1335 |
1368 |
3.68e-4 |
SMART |
EGF
|
1374 |
1407 |
3.88e-3 |
SMART |
FOLN
|
1415 |
1437 |
3.34e0 |
SMART |
EGF
|
1415 |
1448 |
4.46e-3 |
SMART |
CT
|
1459 |
1528 |
4.23e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173686
|
SMART Domains |
Protein: ENSMUSP00000133382 Gene: ENSMUSG00000031558
Domain | Start | End | E-Value | Type |
EGF
|
1 |
31 |
2.05e-2 |
SMART |
EGF
|
43 |
76 |
1.62e-5 |
SMART |
Pfam:Laminin_G_2
|
107 |
149 |
1.4e-6 |
PFAM |
Pfam:Laminin_G_1
|
107 |
150 |
5e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174313
AA Change: Y1458H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133912 Gene: ENSMUSG00000031558 AA Change: Y1458H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
LRR
|
53 |
77 |
1.41e2 |
SMART |
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
LRR
|
102 |
125 |
2.45e0 |
SMART |
LRR
|
126 |
149 |
9.96e-1 |
SMART |
LRR
|
154 |
173 |
1.29e2 |
SMART |
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
LRRNT
|
276 |
308 |
4.55e-8 |
SMART |
LRR
|
302 |
326 |
3e1 |
SMART |
LRR_TYP
|
327 |
350 |
1.95e-3 |
SMART |
LRR_TYP
|
351 |
374 |
2.24e-3 |
SMART |
LRR
|
375 |
398 |
1.31e0 |
SMART |
LRR
|
399 |
422 |
2.49e-1 |
SMART |
LRRCT
|
434 |
483 |
1.88e-6 |
SMART |
LRRNT
|
501 |
533 |
1.45e-6 |
SMART |
LRR_TYP
|
553 |
576 |
1.38e-3 |
SMART |
LRR
|
601 |
624 |
9.96e-1 |
SMART |
LRR_TYP
|
625 |
648 |
2.71e-2 |
SMART |
LRRCT
|
660 |
709 |
3.56e-7 |
SMART |
LRRNT
|
722 |
754 |
3.69e-8 |
SMART |
LRR
|
772 |
795 |
7.36e0 |
SMART |
LRR_TYP
|
796 |
819 |
5.59e-4 |
SMART |
LRR_TYP
|
820 |
843 |
7.9e-4 |
SMART |
LRRCT
|
855 |
904 |
3.9e-13 |
SMART |
EGF
|
917 |
951 |
3.73e-5 |
SMART |
EGF
|
956 |
992 |
4.35e-6 |
SMART |
EGF_CA
|
994 |
1030 |
2.21e-7 |
SMART |
FOLN
|
997 |
1019 |
5.84e1 |
SMART |
EGF
|
1035 |
1070 |
1.07e-5 |
SMART |
EGF_CA
|
1072 |
1108 |
3.97e-9 |
SMART |
FOLN
|
1120 |
1142 |
2.22e0 |
SMART |
EGF
|
1120 |
1153 |
1.62e-5 |
SMART |
LamG
|
1176 |
1312 |
4.82e-39 |
SMART |
EGF
|
1331 |
1364 |
3.68e-4 |
SMART |
EGF
|
1370 |
1403 |
3.88e-3 |
SMART |
FOLN
|
1411 |
1433 |
3.34e0 |
SMART |
EGF
|
1411 |
1444 |
4.46e-3 |
SMART |
CT
|
1455 |
1524 |
4.23e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174421
AA Change: Y1475H
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134263 Gene: ENSMUSG00000031558 AA Change: Y1475H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
LRR
|
53 |
77 |
1.41e2 |
SMART |
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
LRR
|
102 |
125 |
2.45e0 |
SMART |
LRR
|
126 |
149 |
9.96e-1 |
SMART |
LRR
|
154 |
173 |
1.29e2 |
SMART |
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
LRRNT
|
276 |
308 |
4.55e-8 |
SMART |
LRR
|
302 |
326 |
3e1 |
SMART |
LRR_TYP
|
327 |
350 |
1.95e-3 |
SMART |
LRR_TYP
|
351 |
374 |
2.24e-3 |
SMART |
LRR
|
375 |
398 |
1.31e0 |
SMART |
LRR
|
399 |
422 |
2.49e-1 |
SMART |
LRRCT
|
434 |
483 |
1.88e-6 |
SMART |
LRRNT
|
509 |
541 |
1.45e-6 |
SMART |
LRR_TYP
|
561 |
584 |
1.38e-3 |
SMART |
LRR
|
609 |
632 |
9.96e-1 |
SMART |
LRR_TYP
|
633 |
656 |
2.71e-2 |
SMART |
LRRCT
|
668 |
717 |
3.56e-7 |
SMART |
LRRNT
|
730 |
762 |
3.69e-8 |
SMART |
LRR
|
780 |
803 |
7.36e0 |
SMART |
LRR_TYP
|
804 |
827 |
5.59e-4 |
SMART |
LRR_TYP
|
828 |
851 |
7.9e-4 |
SMART |
LRRCT
|
863 |
912 |
3.9e-13 |
SMART |
EGF
|
925 |
959 |
3.73e-5 |
SMART |
EGF
|
964 |
1000 |
4.35e-6 |
SMART |
EGF_CA
|
1002 |
1047 |
4.74e-7 |
SMART |
FOLN
|
1005 |
1027 |
5.84e1 |
SMART |
EGF
|
1052 |
1087 |
1.07e-5 |
SMART |
EGF_CA
|
1089 |
1125 |
3.97e-9 |
SMART |
FOLN
|
1137 |
1159 |
2.22e0 |
SMART |
EGF
|
1137 |
1170 |
1.62e-5 |
SMART |
LamG
|
1193 |
1329 |
4.82e-39 |
SMART |
EGF
|
1348 |
1381 |
3.68e-4 |
SMART |
EGF
|
1387 |
1420 |
3.88e-3 |
SMART |
FOLN
|
1428 |
1450 |
3.34e0 |
SMART |
EGF
|
1428 |
1461 |
4.46e-3 |
SMART |
CT
|
1472 |
1541 |
4.23e-4 |
SMART |
|
Meta Mutation Damage Score |
0.0704 |
Coding Region Coverage |
- 1x: 71.1%
- 3x: 60.8%
- 10x: 33.8%
- 20x: 15.1%
|
Validation Efficiency |
90% (95/106) |
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the Slit family of secreted glycoproteins, which function as ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. In mammals, members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Mice deficient for this gene exhibit abnormal axonal projections in the embryonic forebrain and develop supernumerary uretic buds that maintain improper connections to the nephric duct. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygous mutants display perinatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and hydroureter. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(4)
|
Other mutations in this stock |
Total: 4 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Dnah6 |
A |
T |
6: 73,140,487 (GRCm39) |
D896E |
probably benign |
Het |
Emp2 |
T |
C |
16: 10,103,469 (GRCm39) |
|
probably benign |
Het |
Nefm |
G |
T |
14: 68,358,414 (GRCm39) |
|
probably benign |
Homo |
Zfhx4 |
A |
T |
3: 5,464,648 (GRCm39) |
H1627L |
probably benign |
Het |
|
Other mutations in Slit2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00791:Slit2
|
APN |
5 |
48,461,374 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL00809:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00811:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00813:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00815:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00816:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00817:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00819:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00820:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00822:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01077:Slit2
|
APN |
5 |
48,374,785 (GRCm39) |
splice site |
probably null |
|
IGL01375:Slit2
|
APN |
5 |
48,439,056 (GRCm39) |
splice site |
probably benign |
|
IGL01481:Slit2
|
APN |
5 |
48,460,273 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01934:Slit2
|
APN |
5 |
48,395,747 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01992:Slit2
|
APN |
5 |
48,395,759 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02315:Slit2
|
APN |
5 |
48,145,213 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02328:Slit2
|
APN |
5 |
48,387,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02366:Slit2
|
APN |
5 |
48,461,410 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02526:Slit2
|
APN |
5 |
48,461,565 (GRCm39) |
nonsense |
probably null |
|
IGL02852:Slit2
|
APN |
5 |
48,402,014 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Slit2
|
APN |
5 |
48,374,816 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03123:Slit2
|
APN |
5 |
48,368,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03182:Slit2
|
APN |
5 |
48,377,395 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0032:Slit2
|
UTSW |
5 |
48,414,198 (GRCm39) |
missense |
probably damaging |
0.99 |
R0032:Slit2
|
UTSW |
5 |
48,414,198 (GRCm39) |
missense |
probably damaging |
0.99 |
R0055:Slit2
|
UTSW |
5 |
48,439,068 (GRCm39) |
nonsense |
probably null |
|
R0055:Slit2
|
UTSW |
5 |
48,439,068 (GRCm39) |
nonsense |
probably null |
|
R0267:Slit2
|
UTSW |
5 |
48,339,673 (GRCm39) |
splice site |
probably benign |
|
R0552:Slit2
|
UTSW |
5 |
48,395,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R0610:Slit2
|
UTSW |
5 |
48,433,016 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0883:Slit2
|
UTSW |
5 |
48,402,915 (GRCm39) |
splice site |
probably benign |
|
R1390:Slit2
|
UTSW |
5 |
48,374,832 (GRCm39) |
missense |
probably benign |
0.06 |
R1442:Slit2
|
UTSW |
5 |
48,395,725 (GRCm39) |
missense |
probably damaging |
0.96 |
R1453:Slit2
|
UTSW |
5 |
48,414,393 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1508:Slit2
|
UTSW |
5 |
48,349,591 (GRCm39) |
missense |
probably damaging |
0.98 |
R1639:Slit2
|
UTSW |
5 |
48,416,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Slit2
|
UTSW |
5 |
48,346,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R1828:Slit2
|
UTSW |
5 |
48,461,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Slit2
|
UTSW |
5 |
48,395,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Slit2
|
UTSW |
5 |
48,439,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R1919:Slit2
|
UTSW |
5 |
48,348,358 (GRCm39) |
unclassified |
probably benign |
|
R1982:Slit2
|
UTSW |
5 |
48,407,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Slit2
|
UTSW |
5 |
48,459,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Slit2
|
UTSW |
5 |
48,461,567 (GRCm39) |
missense |
probably benign |
0.03 |
R2655:Slit2
|
UTSW |
5 |
48,346,917 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3402:Slit2
|
UTSW |
5 |
48,440,763 (GRCm39) |
missense |
probably damaging |
0.98 |
R3724:Slit2
|
UTSW |
5 |
48,414,225 (GRCm39) |
critical splice donor site |
probably null |
|
R4176:Slit2
|
UTSW |
5 |
48,394,586 (GRCm39) |
splice site |
probably null |
|
R4306:Slit2
|
UTSW |
5 |
48,460,125 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4397:Slit2
|
UTSW |
5 |
48,377,423 (GRCm39) |
critical splice donor site |
probably null |
|
R4525:Slit2
|
UTSW |
5 |
48,407,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Slit2
|
UTSW |
5 |
48,414,345 (GRCm39) |
splice site |
probably null |
|
R5026:Slit2
|
UTSW |
5 |
48,414,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R5138:Slit2
|
UTSW |
5 |
48,439,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R5465:Slit2
|
UTSW |
5 |
48,407,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Slit2
|
UTSW |
5 |
48,346,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R5699:Slit2
|
UTSW |
5 |
48,378,333 (GRCm39) |
critical splice donor site |
probably null |
|
R5735:Slit2
|
UTSW |
5 |
48,416,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R5834:Slit2
|
UTSW |
5 |
48,416,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R5967:Slit2
|
UTSW |
5 |
48,142,506 (GRCm39) |
missense |
probably damaging |
0.99 |
R6150:Slit2
|
UTSW |
5 |
48,461,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R6219:Slit2
|
UTSW |
5 |
48,459,770 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6344:Slit2
|
UTSW |
5 |
48,377,023 (GRCm39) |
missense |
probably benign |
0.07 |
R6408:Slit2
|
UTSW |
5 |
48,142,328 (GRCm39) |
unclassified |
probably benign |
|
R6479:Slit2
|
UTSW |
5 |
48,389,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R6526:Slit2
|
UTSW |
5 |
48,461,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R6959:Slit2
|
UTSW |
5 |
48,395,727 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7139:Slit2
|
UTSW |
5 |
48,402,025 (GRCm39) |
missense |
probably benign |
0.19 |
R7201:Slit2
|
UTSW |
5 |
48,394,627 (GRCm39) |
missense |
probably null |
0.85 |
R7472:Slit2
|
UTSW |
5 |
48,414,180 (GRCm39) |
missense |
probably damaging |
0.97 |
R7491:Slit2
|
UTSW |
5 |
48,377,336 (GRCm39) |
missense |
probably benign |
0.18 |
R7566:Slit2
|
UTSW |
5 |
48,407,239 (GRCm39) |
missense |
probably damaging |
0.99 |
R7622:Slit2
|
UTSW |
5 |
48,142,547 (GRCm39) |
missense |
probably damaging |
0.98 |
R7831:Slit2
|
UTSW |
5 |
48,402,025 (GRCm39) |
missense |
probably benign |
0.19 |
R7870:Slit2
|
UTSW |
5 |
48,459,649 (GRCm39) |
missense |
probably damaging |
0.99 |
R7899:Slit2
|
UTSW |
5 |
48,404,527 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7969:Slit2
|
UTSW |
5 |
48,461,378 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7984:Slit2
|
UTSW |
5 |
48,333,465 (GRCm39) |
intron |
probably benign |
|
R8021:Slit2
|
UTSW |
5 |
48,459,834 (GRCm39) |
nonsense |
probably null |
|
R8253:Slit2
|
UTSW |
5 |
48,433,013 (GRCm39) |
missense |
probably benign |
0.00 |
R8321:Slit2
|
UTSW |
5 |
48,387,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R8426:Slit2
|
UTSW |
5 |
48,382,105 (GRCm39) |
missense |
probably benign |
0.00 |
R8513:Slit2
|
UTSW |
5 |
48,382,050 (GRCm39) |
nonsense |
probably null |
|
R8756:Slit2
|
UTSW |
5 |
48,459,829 (GRCm39) |
nonsense |
probably null |
|
R8796:Slit2
|
UTSW |
5 |
48,460,190 (GRCm39) |
missense |
probably benign |
0.01 |
R8799:Slit2
|
UTSW |
5 |
48,461,524 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8947:Slit2
|
UTSW |
5 |
48,407,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Slit2
|
UTSW |
5 |
48,459,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9173:Slit2
|
UTSW |
5 |
48,377,285 (GRCm39) |
missense |
probably damaging |
0.98 |
R9310:Slit2
|
UTSW |
5 |
48,349,568 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9365:Slit2
|
UTSW |
5 |
48,461,534 (GRCm39) |
missense |
probably benign |
0.04 |
Z1088:Slit2
|
UTSW |
5 |
48,459,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Protein Function and Prediction |
Slit2 is a secreted protein that signals via a ROBO receptors (Robo1, Robo2, and Robo3) and functions as a chemoreplellant to cause axons or migrating cells to turn away from the source of Slit2 (1-4). For example, by direct binding to the Robo1 and Robo2 receptors, Slit2 can mediate a repulsive activity that prevents axons from growing toward the ventral midline (5-7). Slit2 stimulates the formation of axon collateral branches by NGF-responsive neurons of the dorsal root ganglia (DRG) (2;8). Bielle et al. showed that Slit2 is a major determinant in the orientation of mouse corridor neuron migration (9). Also, two forms (full-length and a shorter form) of Slit2 can be purified from brain extracts and are proposed to be the product of proteolytic processing of the full-length Slit2 (4).
|
Expression/Localization |
Northern blot analysis revealed expression of SLIT2 primarily in the spinal cord (10).
|
Background |
Slit2tm1Matl/tm1Matl; MGI:2179460
involves: 129S2/SvPas
Homozygous mutants display perinatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and hydroureter (1).
|
References |
1. Grieshammer, U., Le, M., Plump, A. S., Wang, F., Tessier-Lavigne, M., and Martin, G. R. (2004) SLIT2-Mediated ROBO2 Signaling Restricts Kidney Induction to a Single Site. Dev Cell. 6, 709-717.
3. Cariboni, A., Andrews, W. D., Memi, F., Ypsilanti, A. R., Zelina, P., Chedotal, A., and Parnavelas, J. G. (2012) Slit2 and Robo3 Modulate the Migration of GnRH-Secreting Neurons. Development. 139, 3326-3331.
6. Lopez-Bendito, G., Flames, N., Ma, L., Fouquet, C., Di Meglio, T., Chedotal, A., Tessier-Lavigne, M., and Marin, O. (2007) Robo1 and Robo2 Cooperate to Control the Guidance of Major Axonal Tracts in the Mammalian Forebrain. J Neurosci. 27, 3395-3407.
7. Bagri, A., Marin, O., Plump, A. S., Mak, J., Pleasure, S. J., Rubenstein, J. L., and Tessier-Lavigne, M. (2002) Slit Proteins Prevent Midline Crossing and Determine the Dorsoventral Position of Major Axonal Pathways in the Mammalian Forebrain. Neuron. 33, 233-248.
8. Wang, K. H., Brose, K., Arnott, D., Kidd, T., Goodman, C. S., Henzel, W., and Tessier-Lavigne, M. (1999) Biochemical Purification of a Mammalian Slit Protein as a Positive Regulator of Sensory Axon Elongation and Branching. Cell. 96, 771-784.
9. Bielle, F., Marcos-Mondejar, P., Keita, M., Mailhes, C., Verney, C., Nguyen Ba-Charvet, K., Tessier-Lavigne, M., Lopez-Bendito, G., and Garel, S. (2011) Slit2 Activity in the Migration of Guidepost Neurons Shapes Thalamic Projections during Development and Evolution. Neuron. 69, 1085-1098.
|
Posted On |
2012-10-29 |
Science Writer |
Anne Murray |