Incidental Mutation 'IGL01680:Slitrk5'
ID103760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk5
Ensembl Gene ENSMUSG00000033214
Gene NameSLIT and NTRK-like family, member 5
Synonyms2610019D03Rik
Accession Numbers

Ncbi RefSeq: NM_198865.1; MGI:2679448

Is this an essential gene? Possibly essential (E-score: 0.508) question?
Stock #IGL01680
Quality Score
Status
Chromosome14
Chromosomal Location111675097-111683141 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 111679000 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 19 (H19N)
Ref Sequence ENSEMBL: ENSMUSP00000041499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042767] [ENSMUST00000227891]
Predicted Effect probably benign
Transcript: ENSMUST00000042767
AA Change: H19N

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: H19N

DomainStartEndE-ValueType
Blast:LRRNT 47 85 3e-18 BLAST
low complexity region 86 96 N/A INTRINSIC
LRR 108 127 2.76e2 SMART
LRR_TYP 128 151 1.67e-2 SMART
LRR 152 175 2.67e-1 SMART
LRR 176 199 1.08e-1 SMART
LRR 202 223 7.38e1 SMART
LRRCT 235 285 2.13e-5 SMART
low complexity region 308 323 N/A INTRINSIC
LRRNT 373 410 9.53e-2 SMART
LRR 433 455 1.45e1 SMART
LRR_TYP 456 479 4.94e-5 SMART
LRR_TYP 480 503 7.78e-3 SMART
LRR_TYP 504 527 2.43e-4 SMART
LRR 528 551 1.86e2 SMART
LRRCT 563 613 3.59e-3 SMART
low complexity region 618 632 N/A INTRINSIC
transmembrane domain 666 688 N/A INTRINSIC
low complexity region 794 816 N/A INTRINSIC
low complexity region 818 823 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227891
AA Change: H19N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 4459459
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele have abnormal medium spiny neuron morphology and exhibit behavioral abnormalities. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,402,620 W121R unknown Het
Adprh C T 16: 38,450,216 G76S possibly damaging Het
Arhgap31 T C 16: 38,603,614 T697A probably benign Het
Ces2f T C 8: 104,954,073 M489T probably benign Het
Clec5a A G 6: 40,584,380 Y44H probably benign Het
Csmd3 T C 15: 47,970,030 H950R probably damaging Het
Dgkz G T 2: 91,935,865 P784T probably benign Het
Dok1 T C 6: 83,031,312 D463G possibly damaging Het
Eif4a2 C A 16: 23,109,191 Q94K probably benign Het
Epg5 T C 18: 78,012,741 L1710P probably damaging Het
Fam45a A G 19: 60,817,534 T86A possibly damaging Het
Fign A G 2: 63,978,644 probably benign Het
Gbp10 T C 5: 105,224,271 probably null Het
Gga2 G T 7: 121,998,076 D363E probably benign Het
Glis2 T A 16: 4,611,331 F133I possibly damaging Het
Isg20 A G 7: 78,916,585 D94G probably damaging Het
Kif23 T C 9: 61,931,814 D319G probably benign Het
Lbr C A 1: 181,836,194 R87L probably damaging Het
Map3k9 T C 12: 81,724,739 T715A probably benign Het
Mapk14 T C 17: 28,725,846 probably null Het
Mpp4 A C 1: 59,130,067 C341W probably benign Het
Mroh9 C T 1: 163,047,982 probably null Het
Myo16 T C 8: 10,272,630 V20A probably damaging Het
Olfr1120 T C 2: 87,357,905 S154P probably damaging Het
Olfr371 A T 8: 85,230,679 L61F probably benign Het
Olfr551 A T 7: 102,588,229 C171* probably null Het
Pofut2 C T 10: 77,263,293 R186W probably damaging Het
Ppp1r1b T A 11: 98,350,566 probably null Het
Slc34a2 A G 5: 53,060,876 I166V probably damaging Het
Slc4a2 A G 5: 24,432,930 T375A probably benign Het
Sptb T A 12: 76,630,682 Q126L probably damaging Het
Stoml1 T C 9: 58,256,713 V105A probably damaging Het
Stt3b C A 9: 115,246,261 probably benign Het
Thbs4 T C 13: 92,776,980 E144G probably benign Het
Tns3 A G 11: 8,548,937 Y49H probably damaging Het
Vmn2r87 C T 10: 130,479,717 W160* probably null Het
Zfp647 T A 15: 76,917,768 probably benign Het
Other mutations in Slitrk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Slitrk5 APN 14 111680665 missense probably benign 0.05
IGL01624:Slitrk5 APN 14 111681094 missense probably damaging 1.00
IGL03234:Slitrk5 APN 14 111679285 missense probably benign 0.00
P0019:Slitrk5 UTSW 14 111680594 missense possibly damaging 0.88
R0323:Slitrk5 UTSW 14 111681623 missense probably damaging 0.99
R0334:Slitrk5 UTSW 14 111680824 missense probably benign
R0392:Slitrk5 UTSW 14 111679033 missense probably benign 0.06
R0659:Slitrk5 UTSW 14 111680689 missense probably benign 0.00
R1344:Slitrk5 UTSW 14 111680389 missense probably benign 0.04
R1754:Slitrk5 UTSW 14 111680519 missense probably damaging 1.00
R1983:Slitrk5 UTSW 14 111680389 missense probably benign 0.04
R2070:Slitrk5 UTSW 14 111680189 missense probably damaging 0.99
R2071:Slitrk5 UTSW 14 111680189 missense probably damaging 0.99
R3001:Slitrk5 UTSW 14 111679582 missense probably damaging 1.00
R3002:Slitrk5 UTSW 14 111679582 missense probably damaging 1.00
R3003:Slitrk5 UTSW 14 111679582 missense probably damaging 1.00
R3885:Slitrk5 UTSW 14 111679797 nonsense probably null
R3886:Slitrk5 UTSW 14 111679797 nonsense probably null
R3888:Slitrk5 UTSW 14 111679797 nonsense probably null
R4962:Slitrk5 UTSW 14 111681247 missense probably benign 0.02
R4999:Slitrk5 UTSW 14 111680216 missense probably damaging 0.99
R5036:Slitrk5 UTSW 14 111680884 missense possibly damaging 0.87
R5190:Slitrk5 UTSW 14 111679420 missense probably damaging 1.00
R5237:Slitrk5 UTSW 14 111681686 missense possibly damaging 0.94
R5669:Slitrk5 UTSW 14 111681623 missense probably damaging 0.99
R5793:Slitrk5 UTSW 14 111679913 missense probably damaging 1.00
R5839:Slitrk5 UTSW 14 111679598 missense probably benign 0.00
R6083:Slitrk5 UTSW 14 111681725 missense probably benign 0.01
R6224:Slitrk5 UTSW 14 111679816 unclassified probably benign
R6225:Slitrk5 UTSW 14 111679816 unclassified probably benign
R6230:Slitrk5 UTSW 14 111679816 unclassified probably benign
R6337:Slitrk5 UTSW 14 111680252 missense probably damaging 0.96
R6666:Slitrk5 UTSW 14 111680102 missense probably damaging 0.96
R6818:Slitrk5 UTSW 14 111680294 missense probably benign 0.32
R6895:Slitrk5 UTSW 14 111681653 missense probably damaging 1.00
R7094:Slitrk5 UTSW 14 111680836 missense probably benign 0.02
R7385:Slitrk5 UTSW 14 111680699 missense probably benign 0.32
Posted On2014-01-21