Incidental Mutation 'R5027:Slitrk1'
ID 391468
Institutional Source Beutler Lab
Gene Symbol Slitrk1
Ensembl Gene ENSMUSG00000075478
Gene Name SLIT and NTRK-like family, member 1
Synonyms 3200001I04Rik
MMRRC Submission 042618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5027 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 109147420-109151671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109149740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 324 (P324S)
Ref Sequence ENSEMBL: ENSMUSP00000097897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100322]
AlphaFold Q810C1
Predicted Effect probably benign
Transcript: ENSMUST00000100322
AA Change: P324S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: P324S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (97/100)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T G 7: 119,911,505 (GRCm39) I1363R probably benign Het
Abcc1 T C 16: 14,221,917 (GRCm39) probably null Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Afg3l1 T C 8: 124,216,553 (GRCm39) M264T probably benign Het
Ankle1 T C 8: 71,861,623 (GRCm39) S434P probably damaging Het
Apoe C T 7: 19,430,940 (GRCm39) A101T probably damaging Het
Apol11a G T 15: 77,401,153 (GRCm39) K213N probably damaging Het
Asap2 A G 12: 21,254,082 (GRCm39) M198V probably damaging Het
Atg4b C T 1: 93,714,297 (GRCm39) A360V probably benign Het
B3gnt5 T A 16: 19,588,444 (GRCm39) V221D probably damaging Het
Baz2b A T 2: 59,928,988 (GRCm39) probably benign Het
Cep350 C A 1: 155,809,100 (GRCm39) W492L probably benign Het
Cln6 A G 9: 62,754,375 (GRCm39) Y139C probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cul9 C T 17: 46,811,708 (GRCm39) E2507K probably damaging Het
Dgkz A T 2: 91,775,888 (GRCm39) V125D probably benign Het
Dnah17 T C 11: 117,993,365 (GRCm39) M1127V probably benign Het
Dnajb1 C A 8: 84,336,732 (GRCm39) D67E probably benign Het
Dync1li1 A G 9: 114,542,612 (GRCm39) D258G probably damaging Het
Egflam G T 15: 7,283,125 (GRCm39) P311T probably benign Het
Fbxw11 T A 11: 32,602,811 (GRCm39) probably benign Het
Fn3krp T G 11: 121,320,274 (GRCm39) D206E probably benign Het
Fsip2 A G 2: 82,819,477 (GRCm39) H5070R possibly damaging Het
Gm6605 T C 7: 38,149,683 (GRCm39) noncoding transcript Het
Gna14 C A 19: 16,580,636 (GRCm39) T158K probably benign Het
Gstt2 A T 10: 75,667,726 (GRCm39) I243N probably damaging Het
Haus6 C T 4: 86,523,933 (GRCm39) D50N possibly damaging Het
Hcrtr2 A G 9: 76,230,578 (GRCm39) I70T probably benign Het
Herc1 G A 9: 66,380,811 (GRCm39) V3563I probably benign Het
Herc1 A T 9: 66,411,900 (GRCm39) I4707F probably damaging Het
Hic2 C T 16: 17,076,611 (GRCm39) A480V possibly damaging Het
Hsd17b3 A G 13: 64,210,720 (GRCm39) Y212H probably damaging Het
Hspa5 A G 2: 34,665,827 (GRCm39) K557R probably damaging Het
Iqch T C 9: 63,432,294 (GRCm39) E367G possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lars2 A G 9: 123,270,560 (GRCm39) M551V probably benign Het
Lbp T C 2: 158,150,646 (GRCm39) I57T possibly damaging Het
Liat1 A G 11: 75,891,047 (GRCm39) K54E probably damaging Het
Litaf T C 16: 10,778,868 (GRCm39) Q142R possibly damaging Het
Lpar5 G C 6: 125,059,110 (GRCm39) R277P possibly damaging Het
Muc6 T A 7: 141,216,349 (GRCm39) I2710F probably benign Het
Myo7b T A 18: 32,108,265 (GRCm39) I1199F probably benign Het
Naca A C 10: 127,883,990 (GRCm39) E2140D possibly damaging Het
Nup214 G T 2: 31,881,329 (GRCm39) G396C probably damaging Het
Or2v1 A T 11: 49,025,451 (GRCm39) Q144L probably benign Het
Or5aq7 T A 2: 86,938,150 (GRCm39) I194F probably benign Het
Or5j3 G A 2: 86,128,540 (GRCm39) V127I possibly damaging Het
Or7g33 A G 9: 19,448,573 (GRCm39) Y218H probably damaging Het
Or8b57 A T 9: 40,003,690 (GRCm39) S187T probably damaging Het
P4htm A G 9: 108,456,492 (GRCm39) V436A probably benign Het
Pfkm A G 15: 98,017,307 (GRCm39) I117V possibly damaging Het
Phlpp1 T G 1: 106,209,201 (GRCm39) V518G probably damaging Het
Piwil4 G A 9: 14,621,240 (GRCm39) L598F probably damaging Het
Polr1b T G 2: 128,965,803 (GRCm39) I815R possibly damaging Het
Ppef2 T C 5: 92,382,150 (GRCm39) N515S probably damaging Het
Prp2rt A G 13: 97,235,648 (GRCm39) I33T probably benign Het
Prpsap2 G T 11: 61,631,830 (GRCm39) probably null Het
Rab27a A G 9: 73,002,695 (GRCm39) D208G probably benign Het
Ralgds A G 2: 28,442,102 (GRCm39) probably null Het
Raph1 C A 1: 60,535,436 (GRCm39) C540F probably damaging Het
Rbsn A G 6: 92,175,231 (GRCm39) L281P probably damaging Het
Rigi T A 4: 40,208,845 (GRCm39) M756L probably benign Het
Rmdn1 G T 4: 19,588,533 (GRCm39) G110* probably null Het
Rph3a T A 5: 121,092,512 (GRCm39) E363V possibly damaging Het
Serpina16 G T 12: 103,641,262 (GRCm39) Y154* probably null Het
Sh2d3c G A 2: 32,634,814 (GRCm39) E198K possibly damaging Het
Shank2 C A 7: 143,812,842 (GRCm39) Y663* probably null Het
Sharpin T C 15: 76,234,225 (GRCm39) probably benign Het
Sorbs2 T A 8: 46,199,571 (GRCm39) probably null Het
Spag16 C T 1: 69,962,963 (GRCm39) probably benign Het
Sycp2l A T 13: 41,283,247 (GRCm39) probably null Het
Synj1 A T 16: 90,737,407 (GRCm39) probably null Het
Sytl1 T C 4: 132,983,530 (GRCm39) probably benign Het
Tkfc A T 19: 10,570,023 (GRCm39) probably null Het
Tnn T C 1: 159,972,781 (GRCm39) T274A probably damaging Het
Trav14-2 T A 14: 53,878,505 (GRCm39) W35R probably damaging Het
Trim72 T C 7: 127,607,137 (GRCm39) M222T probably damaging Het
Trim9 A G 12: 70,393,482 (GRCm39) V154A probably damaging Het
Ttc7b T C 12: 100,268,001 (GRCm39) Y266C probably damaging Het
Uchl3 T A 14: 101,903,982 (GRCm39) I43K possibly damaging Het
Vdac1 T A 11: 52,279,305 (GRCm39) N269K possibly damaging Het
Wdr72 T A 9: 74,053,258 (GRCm39) W187R probably damaging Het
Zfp30 T A 7: 29,492,491 (GRCm39) C248* probably null Het
Zfp940 A T 7: 29,550,381 (GRCm39) probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign 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
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
R7102:Slitrk1 UTSW 14 109,150,061 (GRCm39) missense probably benign 0.01
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'- TTGCCCAGATCCAACAGAATG -3'
(R):5'- AGTGGATTCTAGTCTCCCGG -3'

Sequencing Primer
(F):5'- CCAGATCCAACAGAATGAGGTTCTTG -3'
(R):5'- GATTCTAGTCTCCCGGCTCCC -3'
Posted On 2016-06-06