Incidental Mutation 'R7102:Slitrk1'
ID 550947
Institutional Source Beutler Lab
Gene Symbol Slitrk1
Ensembl Gene ENSMUSG00000075478
Gene Name SLIT and NTRK-like family, member 1
Synonyms 3200001I04Rik
MMRRC Submission 045194-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7102 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 109147420-109151671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109150061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 217 (T217S)
Ref Sequence ENSEMBL: ENSMUSP00000097897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100322]
AlphaFold Q810C1
Predicted Effect probably benign
Transcript: ENSMUST00000100322
AA Change: T217S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: T217S

DomainStartEndE-ValueType
LRR 81 104 1.37e2 SMART
LRR 105 128 1.37e1 SMART
LRR 129 152 4.57e0 SMART
LRR_TYP 153 176 2.75e-3 SMART
LRR 180 200 1.92e2 SMART
LRRCT 212 262 3.45e-5 SMART
LRRNT 340 376 4.28e0 SMART
LRR 374 397 1.86e1 SMART
LRR 398 421 1.49e1 SMART
LRR 422 445 2.68e1 SMART
LRR 446 469 4.98e-1 SMART
LRR_TYP 470 493 6.52e-5 SMART
LRR 494 517 3.46e2 SMART
LRRCT 529 579 3.91e-4 SMART
transmembrane domain 621 643 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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 protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display hypoactivity, reduced male body weight, elevated anxiety- and depression-like behavior, increased norepinephrine content in brain, and partial postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,285,215 (GRCm39) H3283L probably damaging Het
Abcb1a T G 5: 8,744,072 (GRCm39) S233A probably benign Het
Actr10 T C 12: 70,999,805 (GRCm39) probably null Het
Acvr2b C T 9: 119,261,619 (GRCm39) A380V probably damaging Het
Adcy5 A G 16: 35,119,995 (GRCm39) E1168G probably damaging Het
Akap12 C T 10: 4,303,226 (GRCm39) T117I probably damaging Het
Alox5 T A 6: 116,390,429 (GRCm39) Y516F probably benign Het
Amigo2 T C 15: 97,143,741 (GRCm39) N227S probably damaging Het
Anpep C A 7: 79,486,061 (GRCm39) V554L probably benign Het
Ap5b1 T A 19: 5,620,215 (GRCm39) V545E possibly damaging Het
Bbs9 C T 9: 22,490,849 (GRCm39) L326F probably damaging Het
Bltp1 T G 3: 36,994,947 (GRCm39) Y990D probably damaging Het
Cadps C T 14: 12,603,738 (GRCm38) G361R probably damaging Het
Ccdc57 C A 11: 120,812,557 (GRCm39) E66* probably null Het
Ccr6 G A 17: 8,475,019 (GRCm39) V75I probably benign Het
Cdk6 T C 5: 3,570,709 (GRCm39) F300S probably damaging Het
Cenpb A C 2: 131,020,799 (GRCm39) V333G probably damaging Het
Clca4a T C 3: 144,667,670 (GRCm39) I434V probably benign Het
Coro2b T A 9: 62,328,667 (GRCm39) D447V possibly damaging Het
Cpeb3 T C 19: 37,152,119 (GRCm39) S86G probably benign Het
Cry2 C A 2: 92,243,438 (GRCm39) A468S probably damaging Het
Csf2rb2 T C 15: 78,181,272 (GRCm39) Y40C probably damaging Het
Ddx49 T A 8: 70,753,726 (GRCm39) T48S probably damaging Het
Dennd10 T A 19: 60,821,034 (GRCm39) M272K probably damaging Het
Dip2c A G 13: 9,654,572 (GRCm39) T727A probably benign Het
Dnai3 A T 3: 145,761,459 (GRCm39) S632R possibly damaging Het
Ebf4 A T 2: 130,151,651 (GRCm39) I183F probably benign Het
Elavl3 G T 9: 21,930,025 (GRCm39) P293Q possibly damaging Het
Esyt1 A T 10: 128,352,105 (GRCm39) L768Q probably damaging Het
Fat2 G A 11: 55,174,260 (GRCm39) P2151L probably damaging Het
Fgfbp3 G T 19: 36,896,606 (GRCm39) A4E possibly damaging Het
Flg T A 3: 93,200,335 (GRCm39) V277D unknown Het
Fndc3b T C 3: 27,524,383 (GRCm39) D459G possibly damaging Het
Fras1 A G 5: 96,718,900 (GRCm39) Q438R probably benign Het
Glipr1l2 A T 10: 111,928,330 (GRCm39) probably null Het
Gm7347 T A 5: 26,262,382 (GRCm39) probably null Het
Grm6 G A 11: 50,753,804 (GRCm39) V703I possibly damaging Het
Gtf2h1 T A 7: 46,468,550 (GRCm39) V496E probably benign Het
Ifna12 A G 4: 88,521,388 (GRCm39) L53P probably damaging Het
Invs T A 4: 48,407,674 (GRCm39) S550T probably benign Het
Irak2 G T 6: 113,663,810 (GRCm39) C453F probably damaging Het
Itih2 G T 2: 10,110,574 (GRCm39) Q506K probably benign Het
Kidins220 T C 12: 25,107,662 (GRCm39) I1614T probably benign Het
Krtap5-3 T A 7: 141,755,992 (GRCm39) C276* probably null Het
Lama3 T A 18: 12,685,870 (GRCm39) M1128K possibly damaging Het
Lhfpl4 C T 6: 113,171,106 (GRCm39) A27T possibly damaging Het
Lyplal1 A G 1: 185,832,524 (GRCm39) V77A probably damaging Het
Malrd1 A T 2: 16,147,114 (GRCm39) E1985D unknown Het
Mlx A C 11: 100,979,802 (GRCm39) Q161P probably benign Het
Mroh2b T A 15: 4,977,485 (GRCm39) M1279K probably benign Het
Myh7b A G 2: 155,464,119 (GRCm39) E540G probably damaging Het
Neb T A 2: 52,194,067 (GRCm39) D653V probably damaging Het
Nek10 T A 14: 14,828,517 (GRCm38) L113Q probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nscme3l T A 19: 5,553,623 (GRCm39) T53S probably benign Het
Ntpcr T A 8: 126,456,794 (GRCm39) C5S unknown Het
Nwd1 A G 8: 73,421,957 (GRCm39) D1001G probably damaging Het
Or12j5 T A 7: 140,084,229 (GRCm39) T48S probably benign Het
Or14a256 C T 7: 86,265,475 (GRCm39) C126Y probably benign Het
Or4p22 T A 2: 88,317,492 (GRCm39) C139S probably damaging Het
Or6c208 A C 10: 129,224,036 (GRCm39) D178A probably damaging Het
Osbpl3 T A 6: 50,297,115 (GRCm39) S564C probably damaging Het
Pax6 C A 2: 105,522,604 (GRCm39) P264T probably damaging Het
Plppr4 T C 3: 117,116,832 (GRCm39) R342G probably damaging Het
Prg4 C T 1: 150,328,005 (GRCm39) C220Y probably damaging Het
Prune2 T A 19: 17,098,577 (GRCm39) D1360E probably benign Het
Ranbp2 T A 10: 58,299,772 (GRCm39) S469T probably damaging Het
Rbfox1 A T 16: 7,187,698 (GRCm39) K43N probably benign Het
Rgs22 T C 15: 36,122,459 (GRCm39) D25G probably damaging Het
Rnf113a2 G A 12: 84,464,545 (GRCm39) G146S probably damaging Het
Sbpl T A 17: 24,173,608 (GRCm39) K55* probably null Het
Scel G A 14: 103,781,268 (GRCm39) W138* probably null Het
Scgb2b19 T C 7: 32,979,711 (GRCm39) I12V probably null Het
Scn9a T A 2: 66,379,359 (GRCm39) M358L probably damaging Het
Sdk2 C A 11: 113,733,516 (GRCm39) E924* probably null Het
Sipa1l3 T C 7: 29,048,012 (GRCm39) Q1292R possibly damaging Het
Skint4 G A 4: 111,975,298 (GRCm39) G86D probably damaging Het
Slc28a3 C T 13: 58,736,028 (GRCm39) V57I probably benign Het
Slc9a4 T C 1: 40,662,559 (GRCm39) S609P probably damaging Het
Slc9a4 C T 1: 40,619,799 (GRCm39) P42S probably benign Het
Spindoc C T 19: 7,335,807 (GRCm39) R327H probably benign Het
Stk36 T C 1: 74,661,382 (GRCm39) S470P probably benign Het
Sypl1 C T 12: 33,024,254 (GRCm39) P196L probably benign Het
Tekt4 T A 17: 25,693,718 (GRCm39) I285N probably damaging Het
Tgm5 T A 2: 120,876,979 (GRCm39) I686F possibly damaging Het
Thsd4 C A 9: 59,883,587 (GRCm39) R933L probably damaging Het
Treml1 T A 17: 48,673,700 (GRCm39) I237N probably damaging Het
Txndc16 T C 14: 45,442,839 (GRCm39) I119V probably benign Het
Ubr3 C A 2: 69,728,166 (GRCm39) N176K probably damaging Het
Vit A G 17: 78,932,426 (GRCm39) Y511C probably damaging Het
Vwa5b2 G A 16: 20,422,984 (GRCm39) G994D probably benign Het
Wnk1 T C 6: 119,925,268 (GRCm39) T1648A unknown Het
Ythdf1 G A 2: 180,553,315 (GRCm39) T300I probably damaging Het
Zan A G 5: 137,452,462 (GRCm39) probably null Het
Zbbx A G 3: 75,019,401 (GRCm39) L103P probably benign Het
Zfp105 A G 9: 122,758,869 (GRCm39) D180G probably damaging Het
Zfp114 T A 7: 23,880,083 (GRCm39) L144Q possibly damaging Het
Zfp128 T C 7: 12,624,399 (GRCm39) C256R probably damaging Het
Other mutations in Slitrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Slitrk1 APN 14 109,149,269 (GRCm39) missense probably damaging 1.00
IGL00949:Slitrk1 APN 14 109,149,241 (GRCm39) missense probably damaging 0.98
IGL01556:Slitrk1 APN 14 109,150,450 (GRCm39) missense probably damaging 1.00
IGL01924:Slitrk1 APN 14 109,148,671 (GRCm39) missense probably benign 0.08
IGL02389:Slitrk1 APN 14 109,149,754 (GRCm39) missense probably benign
IGL02619:Slitrk1 APN 14 109,149,349 (GRCm39) missense probably benign 0.09
IGL02828:Slitrk1 APN 14 109,149,048 (GRCm39) missense possibly damaging 0.63
R0070:Slitrk1 UTSW 14 109,150,749 (GRCm39) start gained probably benign
R0135:Slitrk1 UTSW 14 109,149,061 (GRCm39) missense probably benign 0.00
R0627:Slitrk1 UTSW 14 109,149,671 (GRCm39) missense probably damaging 1.00
R1529:Slitrk1 UTSW 14 109,150,709 (GRCm39) start codon destroyed probably benign 0.33
R1661:Slitrk1 UTSW 14 109,149,359 (GRCm39) missense probably damaging 1.00
R1711:Slitrk1 UTSW 14 109,150,528 (GRCm39) missense probably benign 0.21
R1960:Slitrk1 UTSW 14 109,149,622 (GRCm39) missense probably damaging 0.96
R1961:Slitrk1 UTSW 14 109,149,622 (GRCm39) missense probably damaging 0.96
R4247:Slitrk1 UTSW 14 109,149,994 (GRCm39) missense possibly damaging 0.95
R4394:Slitrk1 UTSW 14 109,148,735 (GRCm39) missense probably benign 0.01
R5027:Slitrk1 UTSW 14 109,149,740 (GRCm39) missense probably benign
R5241:Slitrk1 UTSW 14 109,150,444 (GRCm39) missense probably benign 0.27
R5599:Slitrk1 UTSW 14 109,149,244 (GRCm39) missense probably benign 0.00
R5835:Slitrk1 UTSW 14 109,149,004 (GRCm39) missense possibly damaging 0.94
R6224:Slitrk1 UTSW 14 109,149,454 (GRCm39) missense probably damaging 1.00
R6489:Slitrk1 UTSW 14 109,148,735 (GRCm39) missense possibly damaging 0.63
R6504:Slitrk1 UTSW 14 109,149,129 (GRCm39) missense probably benign 0.14
R7346:Slitrk1 UTSW 14 109,150,591 (GRCm39) missense possibly damaging 0.89
R7413:Slitrk1 UTSW 14 109,149,357 (GRCm39) nonsense probably null
R8005:Slitrk1 UTSW 14 109,150,697 (GRCm39) missense probably benign 0.30
R8258:Slitrk1 UTSW 14 109,148,653 (GRCm39) missense probably benign 0.05
R8259:Slitrk1 UTSW 14 109,148,653 (GRCm39) missense probably benign 0.05
R8906:Slitrk1 UTSW 14 109,149,139 (GRCm39) missense probably damaging 0.99
R9136:Slitrk1 UTSW 14 109,148,981 (GRCm39) missense
R9150:Slitrk1 UTSW 14 109,149,101 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGCGAAGGTTTCTTCCTGG -3'
(R):5'- GCCTTCCAGGACTTGAACAAG -3'

Sequencing Primer
(F):5'- TGAGGTCTTTACCCTGGAG -3'
(R):5'- CTTGAACAAGTTGGAAGTCCTC -3'
Posted On 2019-05-15