Incidental Mutation 'IGL01515:Slitrk2'
ID 89347
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 # IGL01515
Quality Score
Status
Chromosome X
Chromosomal Location 65692924-65704999 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65699248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 580 (P580S)
Ref Sequence ENSEMBL: ENSMUSP00000130057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036043] [ENSMUST00000166241]
AlphaFold Q810C0
Predicted Effect probably damaging
Transcript: ENSMUST00000036043
AA Change: P580S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044094
Gene: ENSMUSG00000036790
AA Change: P580S

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 damaging
Transcript: ENSMUST00000166241
AA Change: P580S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130057
Gene: ENSMUSG00000036790
AA Change: P580S

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,047,289 (GRCm39) V588E probably damaging Het
Ar C T X: 97,295,453 (GRCm39) probably benign Het
B4galt7 C A 13: 55,757,035 (GRCm39) Q243K probably damaging Het
Cdhr2 A T 13: 54,866,051 (GRCm39) T284S probably benign Het
Chdh G A 14: 29,758,843 (GRCm39) R596H probably damaging Het
Cyp2r1 T C 7: 114,151,947 (GRCm39) probably benign Het
Cyp3a44 A T 5: 145,736,228 (GRCm39) L74* probably null Het
Dnah8 A T 17: 30,867,459 (GRCm39) I304L probably benign Het
Fam171b G A 2: 83,710,577 (GRCm39) E750K probably damaging Het
Fbxo38 T A 18: 62,651,642 (GRCm39) E554D probably benign Het
Fnd3c2 T C X: 105,282,093 (GRCm39) K721E probably damaging Het
Gpam A G 19: 55,075,883 (GRCm39) L243P probably damaging Het
Heph A G X: 95,601,706 (GRCm39) E1032G probably damaging Het
Igf1r T A 7: 67,857,200 (GRCm39) V1054E probably damaging Het
Inpp4b A G 8: 82,679,340 (GRCm39) S331G possibly damaging Het
Ints11 A T 4: 155,959,689 (GRCm39) I99F probably damaging Het
Jak3 G A 8: 72,133,206 (GRCm39) probably null Het
Ky A G 9: 102,419,304 (GRCm39) Y437C probably benign Het
Lin28a A G 4: 133,746,020 (GRCm39) probably null Het
Macc1 A C 12: 119,414,106 (GRCm39) K761Q probably damaging Het
Myom2 A G 8: 15,172,655 (GRCm39) D1194G probably benign Het
Naga C A 15: 82,214,360 (GRCm39) V384F probably benign Het
Necab3 A T 2: 154,396,611 (GRCm39) S72T probably damaging Het
Or4a27 G A 2: 88,559,352 (GRCm39) T197I probably benign Het
Or51i2 A G 7: 103,689,183 (GRCm39) Y60C probably benign Het
Ptpn13 C T 5: 103,703,979 (GRCm39) S1337L probably benign Het
Tpsg1 A G 17: 25,592,936 (GRCm39) D67G probably damaging Het
Tsc22d1 T C 14: 76,742,739 (GRCm39) probably null Het
Other mutations in Slitrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03273:Slitrk2 APN X 65,697,602 (GRCm39) missense probably benign
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 2013-12-03