Incidental Mutation 'IGL03273:Slitrk2'
ID415327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk2
Ensembl Gene ENSMUSG00000036790
Gene NameSLIT and NTRK-like family, member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL03273
Quality Score
Status
ChromosomeX
Chromosomal Location66649318-66661393 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66653996 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
Ref Sequence ENSEMBL: ENSMUSP00000130057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036043] [ENSMUST00000166241]
Predicted Effect probably benign
Transcript: ENSMUST00000036043
AA Change: I31T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044094
Gene: ENSMUSG00000036790
AA Change: I31T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 28 64 2.98e0 SMART
LRR 89 108 2.92e1 SMART
LRR_TYP 109 132 2.53e-2 SMART
LRR 133 156 3.97e0 SMART
LRR 157 180 3.78e-1 SMART
LRR 181 204 8.49e1 SMART
LRRCT 216 264 9.77e-5 SMART
low complexity region 267 279 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
LRRNT 340 377 6.84e-3 SMART
LRR 399 422 7.16e0 SMART
LRR_TYP 423 446 4.72e-2 SMART
LRR 447 470 8.67e-1 SMART
LRR_TYP 471 494 5.59e-4 SMART
LRR 495 518 2.76e1 SMART
LRRCT 530 580 1.04e-8 SMART
transmembrane domain 623 645 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166241
AA Change: I31T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130057
Gene: ENSMUSG00000036790
AA Change: I31T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 28 64 2.98e0 SMART
LRR 89 108 2.92e1 SMART
LRR_TYP 109 132 2.53e-2 SMART
LRR 133 156 3.97e0 SMART
LRR 157 180 3.78e-1 SMART
LRR 181 204 8.49e1 SMART
LRRCT 216 264 9.77e-5 SMART
low complexity region 267 279 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
LRRNT 340 377 6.84e-3 SMART
LRR 399 422 7.16e0 SMART
LRR_TYP 423 446 4.72e-2 SMART
LRR 447 470 8.67e-1 SMART
LRR_TYP 471 494 5.59e-4 SMART
LRR 495 518 2.76e1 SMART
LRRCT 530 580 1.04e-8 SMART
transmembrane domain 623 645 N/A INTRINSIC
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 an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524N10Rik A T X: 154,339,701 F114L probably benign Het
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam32 T A 8: 24,921,340 I102F probably damaging Het
Aldoart1 T C 4: 72,852,109 K154R probably benign Het
BC052040 A G 2: 115,631,991 Y68C probably damaging Het
Cep63 T C 9: 102,602,467 K349E probably benign Het
Col28a1 A G 6: 8,103,484 probably benign Het
Dennd4c A G 4: 86,777,796 N130S probably damaging Het
Dnah5 T G 15: 28,458,649 F4477L probably damaging Het
Fbln7 A T 2: 128,895,470 T402S probably benign Het
Frem2 A C 3: 53,537,509 Y2400* probably null Het
Gm11937 C T 11: 99,609,801 probably benign Het
Guca1a T C 17: 47,395,173 D127G probably benign Het
Hrh3 T A 2: 180,100,648 T396S possibly damaging Het
Map1a A G 2: 121,300,238 N512D probably damaging Het
Mysm1 A C 4: 94,965,718 S215A probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nup93 T A 8: 94,306,277 D556E probably benign Het
Ofcc1 T A 13: 40,180,525 K363N probably damaging Het
Psme4 T A 11: 30,848,130 S1374R probably damaging Het
Stk40 A G 4: 126,123,806 N42S possibly damaging Het
Tarbp1 A G 8: 126,453,835 L600P probably damaging Het
Tjp1 T C 7: 65,299,799 S1692G probably damaging Het
Tmem63c G T 12: 87,081,802 V534L probably damaging Het
Vmn2r77 A G 7: 86,811,286 K607E probably damaging Het
Zfp292 A T 4: 34,806,163 S2299T probably benign Het
Other mutations in Slitrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Slitrk2 APN X 66655642 missense probably damaging 1.00
R2069:Slitrk2 UTSW X 66654629 missense probably damaging 1.00
R2219:Slitrk2 UTSW X 66655148 missense probably damaging 0.99
Posted On2016-08-02