Incidental Mutation 'IGL03273:Slitrk2'
ID 415327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk2
Ensembl Gene ENSMUSG00000036790
Gene Name SLIT and NTRK-like family, member 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL03273
Quality Score
Status
Chromosome X
Chromosomal Location 65692924-65704999 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65697602 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q810C0
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
Aaas A G 15: 102,258,430 (GRCm39) I29T probably damaging Het
Adam32 T A 8: 25,411,356 (GRCm39) I102F probably damaging Het
Aldoart1 T C 4: 72,770,346 (GRCm39) K154R probably benign Het
Cdin1 A G 2: 115,462,472 (GRCm39) Y68C probably damaging Het
Cep63 T C 9: 102,479,666 (GRCm39) K349E probably benign Het
Col28a1 A G 6: 8,103,484 (GRCm39) probably benign Het
Dennd4c A G 4: 86,696,033 (GRCm39) N130S probably damaging Het
Dnah5 T G 15: 28,458,795 (GRCm39) F4477L probably damaging Het
Fbln7 A T 2: 128,737,390 (GRCm39) T402S probably benign Het
Frem2 A C 3: 53,444,930 (GRCm39) Y2400* probably null Het
Gm11937 C T 11: 99,500,627 (GRCm39) probably benign Het
Guca1a T C 17: 47,706,098 (GRCm39) D127G probably benign Het
Hrh3 T A 2: 179,742,441 (GRCm39) T396S possibly damaging Het
Map1a A G 2: 121,130,719 (GRCm39) N512D probably damaging Het
Mysm1 A C 4: 94,853,955 (GRCm39) S215A probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nup93 T A 8: 95,032,905 (GRCm39) D556E probably benign Het
Ofcc1 T A 13: 40,334,001 (GRCm39) K363N probably damaging Het
Psme4 T A 11: 30,798,130 (GRCm39) S1374R probably damaging Het
Samt2b A T X: 153,122,697 (GRCm39) F114L probably benign Het
Stk40 A G 4: 126,017,599 (GRCm39) N42S possibly damaging Het
Tarbp1 A G 8: 127,180,574 (GRCm39) L600P probably damaging Het
Tjp1 T C 7: 64,949,547 (GRCm39) S1692G probably damaging Het
Tmem63c G T 12: 87,128,576 (GRCm39) V534L probably damaging Het
Vmn2r77 A G 7: 86,460,494 (GRCm39) K607E probably damaging Het
Zfp292 A T 4: 34,806,163 (GRCm39) S2299T probably benign Het
Other mutations in Slitrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Slitrk2 APN X 65,699,248 (GRCm39) missense probably damaging 1.00
R2069:Slitrk2 UTSW X 65,698,235 (GRCm39) missense probably damaging 1.00
R2219:Slitrk2 UTSW X 65,698,754 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02