Incidental Mutation 'IGL02478:Slitrk3'
ID 295032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk3
Ensembl Gene ENSMUSG00000048304
Gene Name SLIT and NTRK-like family, member 3
Synonyms ST3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # IGL02478
Quality Score
Status
Chromosome 3
Chromosomal Location 72954598-72965136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 72958046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 242 (V242G)
Ref Sequence ENSEMBL: ENSMUSP00000141236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059407] [ENSMUST00000192477]
AlphaFold Q810B9
Predicted Effect probably damaging
Transcript: ENSMUST00000059407
AA Change: V242G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088561
Gene: ENSMUSG00000048304
AA Change: V242G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Blast:LRRNT 44 79 3e-11 BLAST
LRR 101 124 2.08e1 SMART
LRR 125 148 6.05e0 SMART
LRR 149 172 3.97e0 SMART
LRR_TYP 173 196 1.67e-2 SMART
LRR 197 220 2.69e2 SMART
LRRCT 233 283 4.56e-5 SMART
low complexity region 332 350 N/A INTRINSIC
LRRNT 373 411 4.17e0 SMART
LRR 432 455 1.62e0 SMART
LRR_TYP 456 479 2.61e-4 SMART
LRR 480 503 2.82e0 SMART
LRR_TYP 504 527 6.99e-5 SMART
LRRCT 563 613 3.22e-5 SMART
transmembrane domain 658 680 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
low complexity region 836 843 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
low complexity region 870 888 N/A INTRINSIC
Blast:LRRCT 906 943 2e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000192477
AA Change: V242G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141236
Gene: ENSMUSG00000048304
AA Change: V242G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Blast:LRRNT 44 79 3e-11 BLAST
LRR 101 124 2.08e1 SMART
LRR 125 148 6.05e0 SMART
LRR 149 172 3.97e0 SMART
LRR_TYP 173 196 1.67e-2 SMART
LRR 197 220 2.69e2 SMART
LRRCT 233 283 4.56e-5 SMART
low complexity region 332 350 N/A INTRINSIC
LRRNT 373 411 4.17e0 SMART
LRR 432 455 1.62e0 SMART
LRR_TYP 456 479 2.61e-4 SMART
LRR 480 503 2.82e0 SMART
LRR_TYP 504 527 6.99e-5 SMART
LRRCT 563 613 3.22e-5 SMART
transmembrane domain 658 680 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
low complexity region 836 843 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
low complexity region 870 888 N/A INTRINSIC
Blast:LRRCT 906 943 2e-16 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Slitrk family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out mice exhibit reduced inhibitory synapse density, decreased miniature inhibitory postsynaptic current frequency and increased susceptibility to spontaneous and pharmacologically-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,856,018 (GRCm39) A42E probably damaging Het
Agmo T A 12: 37,451,985 (GRCm39) F247L probably damaging Het
Arap1 C A 7: 101,049,332 (GRCm39) probably null Het
Arid1a T C 4: 133,408,585 (GRCm39) D1974G unknown Het
Asxl3 C T 18: 22,656,070 (GRCm39) A1360V possibly damaging Het
Celsr1 T A 15: 85,825,337 (GRCm39) T1599S possibly damaging Het
Chrdl2 T C 7: 99,670,190 (GRCm39) probably null Het
Csmd3 T C 15: 47,701,794 (GRCm39) probably benign Het
Dis3l C T 9: 64,222,055 (GRCm39) E452K probably benign Het
Dnajc2 A T 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Eps8 G A 6: 137,499,840 (GRCm39) P213L probably benign Het
Erbb3 T A 10: 128,407,227 (GRCm39) R978* probably null Het
Exoc2 A T 13: 31,111,403 (GRCm39) C142S probably benign Het
Fam184b T C 5: 45,695,039 (GRCm39) E735G probably damaging Het
Fancm T C 12: 65,123,864 (GRCm39) V174A probably damaging Het
Fat4 T C 3: 38,942,364 (GRCm39) L419P probably damaging Het
Fsip2 G T 2: 82,814,736 (GRCm39) V3490L probably benign Het
Ftcd A T 10: 76,417,255 (GRCm39) R255* probably null Het
Galc T C 12: 98,179,391 (GRCm39) N506S possibly damaging Het
Gm20441 G T 10: 75,608,644 (GRCm39) A26E probably damaging Het
Gm21969 T G 4: 139,367,999 (GRCm39) probably null Het
Ifitm3 T A 7: 140,589,787 (GRCm39) M89L possibly damaging Het
Ift25 T A 4: 107,132,449 (GRCm39) S79T probably benign Het
Inmt T C 6: 55,150,355 (GRCm39) E94G probably damaging Het
Insrr G A 3: 87,716,719 (GRCm39) G649D probably benign Het
Ivd T C 2: 118,692,572 (GRCm39) L24P probably benign Het
Kcnc1 A G 7: 46,084,593 (GRCm39) N506D probably benign Het
Krt39 T A 11: 99,411,723 (GRCm39) D121V probably benign Het
Lcp1 A G 14: 75,461,536 (GRCm39) I510V probably benign Het
Mkx C T 18: 7,002,418 (GRCm39) V43M probably damaging Het
Mmp2 A G 8: 93,579,235 (GRCm39) N108S possibly damaging Het
Mob1b T C 5: 88,903,947 (GRCm39) probably benign Het
Morc3 A G 16: 93,661,844 (GRCm39) probably benign Het
Myh13 T G 11: 67,260,204 (GRCm39) S1881A probably benign Het
Nalcn T C 14: 123,558,717 (GRCm39) E843G probably benign Het
Ngef A G 1: 87,408,301 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,344 (GRCm39) I158N probably damaging Het
Osm A G 11: 4,189,507 (GRCm39) Y97C probably damaging Het
Pclo T A 5: 14,816,792 (GRCm39) L4556Q unknown Het
Pcyox1l T C 18: 61,830,780 (GRCm39) D364G probably benign Het
Plekha6 T A 1: 133,211,031 (GRCm39) V467E probably benign Het
Qrsl1 A T 10: 43,758,158 (GRCm39) S312T probably damaging Het
Ripk1 T A 13: 34,194,572 (GRCm39) L70Q probably damaging Het
Rnaseh1 A T 12: 28,705,662 (GRCm39) Y162F probably damaging Het
Ror2 T A 13: 53,275,703 (GRCm39) T195S probably damaging Het
Sh3bp2 T C 5: 34,709,006 (GRCm39) L33P probably damaging Het
Skil T A 3: 31,151,968 (GRCm39) C163* probably null Het
Slc25a37 A T 14: 69,486,883 (GRCm39) N133K probably benign Het
Sra1 A G 18: 36,801,845 (GRCm39) S82P probably benign Het
Synj2 A G 17: 6,088,199 (GRCm39) N1417D probably benign Het
Tas2r122 A G 6: 132,688,578 (GRCm39) V105A possibly damaging Het
Tasor2 T C 13: 3,624,661 (GRCm39) E1763G probably benign Het
Ttc21b T C 2: 66,018,624 (GRCm39) N1261S probably benign Het
Vmn2r69 A G 7: 85,055,889 (GRCm39) S750P probably damaging Het
Wdr95 A G 5: 149,519,786 (GRCm39) T568A probably benign Het
Zfp319 T A 8: 96,055,721 (GRCm39) I161F possibly damaging Het
Other mutations in Slitrk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Slitrk3 APN 3 72,958,436 (GRCm39) missense probably damaging 1.00
IGL00857:Slitrk3 APN 3 72,957,174 (GRCm39) missense probably damaging 1.00
IGL00990:Slitrk3 APN 3 72,957,414 (GRCm39) missense probably damaging 1.00
IGL01010:Slitrk3 APN 3 72,956,606 (GRCm39) missense probably benign 0.14
IGL01299:Slitrk3 APN 3 72,956,349 (GRCm39) missense probably benign 0.43
IGL01609:Slitrk3 APN 3 72,957,570 (GRCm39) missense probably damaging 1.00
IGL01881:Slitrk3 APN 3 72,956,639 (GRCm39) missense probably benign 0.00
IGL01941:Slitrk3 APN 3 72,958,404 (GRCm39) missense possibly damaging 0.72
IGL02183:Slitrk3 APN 3 72,957,312 (GRCm39) missense probably damaging 0.97
IGL02187:Slitrk3 APN 3 72,957,605 (GRCm39) missense probably damaging 1.00
IGL02512:Slitrk3 APN 3 72,957,735 (GRCm39) missense probably benign 0.28
IGL02720:Slitrk3 APN 3 72,958,101 (GRCm39) missense probably damaging 1.00
IGL03113:Slitrk3 APN 3 72,957,723 (GRCm39) missense probably benign 0.00
IGL03224:Slitrk3 APN 3 72,957,263 (GRCm39) missense possibly damaging 0.72
wee UTSW 3 72,958,118 (GRCm39) missense probably damaging 1.00
R0233:Slitrk3 UTSW 3 72,955,910 (GRCm39) missense probably benign 0.00
R0233:Slitrk3 UTSW 3 72,955,910 (GRCm39) missense probably benign 0.00
R0639:Slitrk3 UTSW 3 72,956,982 (GRCm39) missense probably benign 0.02
R1448:Slitrk3 UTSW 3 72,957,674 (GRCm39) missense probably damaging 0.99
R1656:Slitrk3 UTSW 3 72,957,672 (GRCm39) missense probably damaging 0.98
R1713:Slitrk3 UTSW 3 72,957,024 (GRCm39) missense probably benign 0.00
R1992:Slitrk3 UTSW 3 72,957,104 (GRCm39) missense possibly damaging 0.80
R1999:Slitrk3 UTSW 3 72,957,297 (GRCm39) missense probably benign 0.13
R2359:Slitrk3 UTSW 3 72,956,678 (GRCm39) missense possibly damaging 0.56
R3083:Slitrk3 UTSW 3 72,955,928 (GRCm39) missense probably benign 0.00
R3153:Slitrk3 UTSW 3 72,956,315 (GRCm39) nonsense probably null
R3821:Slitrk3 UTSW 3 72,956,549 (GRCm39) missense possibly damaging 0.94
R4208:Slitrk3 UTSW 3 72,958,490 (GRCm39) missense possibly damaging 0.67
R4323:Slitrk3 UTSW 3 72,958,118 (GRCm39) missense probably damaging 1.00
R4580:Slitrk3 UTSW 3 72,958,539 (GRCm39) missense probably damaging 0.96
R4730:Slitrk3 UTSW 3 72,956,852 (GRCm39) missense probably benign 0.08
R4742:Slitrk3 UTSW 3 72,955,898 (GRCm39) missense probably benign 0.00
R4979:Slitrk3 UTSW 3 72,957,129 (GRCm39) missense possibly damaging 0.95
R5018:Slitrk3 UTSW 3 72,957,845 (GRCm39) missense probably benign 0.31
R5023:Slitrk3 UTSW 3 72,957,981 (GRCm39) missense probably benign 0.24
R5057:Slitrk3 UTSW 3 72,957,981 (GRCm39) missense probably benign 0.24
R5156:Slitrk3 UTSW 3 72,956,592 (GRCm39) missense probably benign
R5500:Slitrk3 UTSW 3 72,957,680 (GRCm39) missense probably damaging 1.00
R5582:Slitrk3 UTSW 3 72,957,737 (GRCm39) missense probably benign 0.09
R5797:Slitrk3 UTSW 3 72,955,962 (GRCm39) missense probably damaging 0.99
R5963:Slitrk3 UTSW 3 72,958,046 (GRCm39) missense probably benign 0.30
R5985:Slitrk3 UTSW 3 72,958,233 (GRCm39) missense probably damaging 1.00
R6123:Slitrk3 UTSW 3 72,957,095 (GRCm39) missense probably damaging 1.00
R6393:Slitrk3 UTSW 3 72,957,247 (GRCm39) missense possibly damaging 0.79
R6529:Slitrk3 UTSW 3 72,958,551 (GRCm39) missense probably benign 0.02
R6584:Slitrk3 UTSW 3 72,956,558 (GRCm39) missense probably damaging 0.99
R6645:Slitrk3 UTSW 3 72,957,194 (GRCm39) missense probably benign 0.13
R7001:Slitrk3 UTSW 3 72,957,942 (GRCm39) nonsense probably null
R7282:Slitrk3 UTSW 3 72,957,798 (GRCm39) missense possibly damaging 0.70
R7534:Slitrk3 UTSW 3 72,957,440 (GRCm39) missense probably damaging 0.98
R7577:Slitrk3 UTSW 3 72,958,448 (GRCm39) missense probably damaging 0.99
R7757:Slitrk3 UTSW 3 72,958,172 (GRCm39) missense probably damaging 1.00
R8251:Slitrk3 UTSW 3 72,956,729 (GRCm39) missense possibly damaging 0.67
R8354:Slitrk3 UTSW 3 72,956,513 (GRCm39) missense probably benign 0.08
R8454:Slitrk3 UTSW 3 72,956,513 (GRCm39) missense probably benign 0.08
R8488:Slitrk3 UTSW 3 72,958,520 (GRCm39) missense probably benign 0.02
R8491:Slitrk3 UTSW 3 72,958,592 (GRCm39) missense possibly damaging 0.89
R8843:Slitrk3 UTSW 3 72,956,164 (GRCm39) missense probably benign 0.04
R9140:Slitrk3 UTSW 3 72,957,792 (GRCm39) missense probably benign 0.02
R9451:Slitrk3 UTSW 3 72,958,616 (GRCm39) missense possibly damaging 0.83
R9511:Slitrk3 UTSW 3 72,958,272 (GRCm39) missense possibly damaging 0.46
R9575:Slitrk3 UTSW 3 72,956,127 (GRCm39) missense probably benign 0.00
R9589:Slitrk3 UTSW 3 72,957,981 (GRCm39) missense probably benign 0.24
R9603:Slitrk3 UTSW 3 72,958,649 (GRCm39) missense probably benign 0.00
X0022:Slitrk3 UTSW 3 72,957,599 (GRCm39) missense probably damaging 1.00
Z1176:Slitrk3 UTSW 3 72,956,103 (GRCm39) missense probably benign 0.09
Z1177:Slitrk3 UTSW 3 72,956,475 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16