Incidental Mutation 'R4580:Slitrk3'
ID 343571
Institutional Source Beutler Lab
Gene Symbol Slitrk3
Ensembl Gene ENSMUSG00000048304
Gene Name SLIT and NTRK-like family, member 3
Synonyms ST3
MMRRC Submission 041599-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R4580 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 72954598-72965136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72958539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 78 (S78P)
Ref Sequence ENSEMBL: ENSMUSP00000141236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059407] [ENSMUST00000192477]
AlphaFold Q810B9
Predicted Effect probably damaging
Transcript: ENSMUST00000059407
AA Change: S78P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088561
Gene: ENSMUSG00000048304
AA Change: S78P

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Blast:LRRNT 44 79 3e-11 BLAST
LRR 101 124 2.08e1 SMART
LRR 125 148 6.05e0 SMART
LRR 149 172 3.97e0 SMART
LRR_TYP 173 196 1.67e-2 SMART
LRR 197 220 2.69e2 SMART
LRRCT 233 283 4.56e-5 SMART
low complexity region 332 350 N/A INTRINSIC
LRRNT 373 411 4.17e0 SMART
LRR 432 455 1.62e0 SMART
LRR_TYP 456 479 2.61e-4 SMART
LRR 480 503 2.82e0 SMART
LRR_TYP 504 527 6.99e-5 SMART
LRRCT 563 613 3.22e-5 SMART
transmembrane domain 658 680 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
low complexity region 836 843 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
low complexity region 870 888 N/A INTRINSIC
Blast:LRRCT 906 943 2e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000192477
AA Change: S78P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141236
Gene: ENSMUSG00000048304
AA Change: S78P

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Blast:LRRNT 44 79 3e-11 BLAST
LRR 101 124 2.08e1 SMART
LRR 125 148 6.05e0 SMART
LRR 149 172 3.97e0 SMART
LRR_TYP 173 196 1.67e-2 SMART
LRR 197 220 2.69e2 SMART
LRRCT 233 283 4.56e-5 SMART
low complexity region 332 350 N/A INTRINSIC
LRRNT 373 411 4.17e0 SMART
LRR 432 455 1.62e0 SMART
LRR_TYP 456 479 2.61e-4 SMART
LRR 480 503 2.82e0 SMART
LRR_TYP 504 527 6.99e-5 SMART
LRRCT 563 613 3.22e-5 SMART
transmembrane domain 658 680 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
low complexity region 836 843 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
low complexity region 870 888 N/A INTRINSIC
Blast:LRRCT 906 943 2e-16 BLAST
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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 family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out mice exhibit reduced inhibitory synapse density, decreased miniature inhibitory postsynaptic current frequency and increased susceptibility to spontaneous and pharmacologically-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,791,237 (GRCm39) Y114C probably damaging Het
Abcc2 T C 19: 43,799,558 (GRCm39) S556P probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp6v1g1 A G 4: 63,468,269 (GRCm39) N91D probably benign Het
BC005537 G T 13: 24,987,394 (GRCm39) A11S probably benign Het
Bltp1 A T 3: 37,084,174 (GRCm39) T3864S probably benign Het
Bub1 A C 2: 127,671,596 (GRCm39) probably null Het
Ccdc162 T C 10: 41,437,136 (GRCm39) T1758A probably benign Het
Cdh15 T C 8: 123,591,897 (GRCm39) L594P probably damaging Het
Cobll1 C T 2: 64,981,417 (GRCm39) V90I probably benign Het
Cog2 T C 8: 125,271,875 (GRCm39) V463A probably benign Het
Cpeb4 T A 11: 31,877,757 (GRCm39) probably null Het
Creb5 G A 6: 53,581,519 (GRCm39) M172I possibly damaging Het
Cyp4a32 T C 4: 115,460,126 (GRCm39) silent Het
Dnah8 T A 17: 30,881,026 (GRCm39) S588T probably benign Het
Ecpas T C 4: 58,840,751 (GRCm39) Y669C probably damaging Het
Esd T C 14: 74,979,517 (GRCm39) V120A possibly damaging Het
Fbxo5 T C 10: 5,755,255 (GRCm39) probably null Het
Gm4922 T C 10: 18,659,432 (GRCm39) D430G probably benign Het
Golga4 C A 9: 118,386,327 (GRCm39) Q1150K probably benign Het
Grb14 T C 2: 64,783,947 (GRCm39) N60S probably benign Het
Grk4 A G 5: 34,818,325 (GRCm39) N2S probably damaging Het
Henmt1 T A 3: 108,850,081 (GRCm39) S21R probably benign Het
Ifngr2 A G 16: 91,354,906 (GRCm39) K113E probably benign Het
Ighv15-2 T A 12: 114,528,590 (GRCm39) T15S probably benign Het
Kif24 A G 4: 41,395,287 (GRCm39) S529P probably damaging Het
Large2 T C 2: 92,200,957 (GRCm39) N51S possibly damaging Het
Lmtk2 A G 5: 144,111,599 (GRCm39) E773G possibly damaging Het
Lrfn3 A T 7: 30,059,467 (GRCm39) C253S probably damaging Het
Maea T C 5: 33,517,832 (GRCm39) V130A possibly damaging Het
Marchf11 A T 15: 26,311,189 (GRCm39) I222F probably damaging Het
Mast4 A T 13: 102,873,766 (GRCm39) Y1699* probably null Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mpzl3 T A 9: 44,979,529 (GRCm39) V160E possibly damaging Het
Myh15 T C 16: 48,885,388 (GRCm39) S88P possibly damaging Het
Myl2 A T 5: 122,244,801 (GRCm39) H157L probably benign Het
Myo9b A G 8: 71,767,779 (GRCm39) N284S probably damaging Het
Nphp1 A G 2: 127,610,089 (GRCm39) probably null Het
Nrcam T C 12: 44,609,323 (GRCm39) probably null Het
Nt5c3b G T 11: 100,323,885 (GRCm39) F134L probably damaging Het
Or4c120 T A 2: 89,001,544 (GRCm39) Q4L probably benign Het
Otog A G 7: 45,937,225 (GRCm39) R1645G possibly damaging Het
Pask T C 1: 93,249,830 (GRCm39) I523M probably benign Het
Pcdhb7 T A 18: 37,475,188 (GRCm39) L108Q probably damaging Het
Pdp2 C A 8: 105,321,576 (GRCm39) T475K probably damaging Het
Pgbd1 G C 13: 21,612,499 (GRCm39) P113A probably benign Het
Plk5 C T 10: 80,196,301 (GRCm39) H291Y possibly damaging Het
Pmpca G T 2: 26,283,347 (GRCm39) S382I probably damaging Het
Prl3b1 A G 13: 27,433,450 (GRCm39) T202A possibly damaging Het
Ptgs2 A T 1: 149,979,845 (GRCm39) T317S possibly damaging Het
Ptprc C T 1: 137,998,989 (GRCm39) M1020I probably benign Het
Rhbdl3 T C 11: 80,244,471 (GRCm39) Y393H probably damaging Het
Sema3e T C 5: 14,283,717 (GRCm39) L482P probably damaging Het
Setd2 C T 9: 110,403,311 (GRCm39) T1984I probably benign Het
Slc17a1 T C 13: 24,071,960 (GRCm39) Y393H probably damaging Het
Slc9a3 C T 13: 74,307,005 (GRCm39) R377* probably null Het
Smim35 G T 9: 45,155,426 (GRCm39) probably null Het
Specc1 T A 11: 62,110,157 (GRCm39) V1054E probably damaging Het
Tbc1d4 T C 14: 101,696,219 (GRCm39) T847A probably benign Het
Tcf7l2 G A 19: 55,907,468 (GRCm39) G343R probably damaging Het
Tex36 A C 7: 133,189,111 (GRCm39) Y154D possibly damaging Het
Topaz1 T A 9: 122,576,580 (GRCm39) M57K probably null Het
Trav6-4 T C 14: 53,692,156 (GRCm39) Y85H probably damaging Het
Trim30d A G 7: 104,121,765 (GRCm39) Y327H possibly damaging Het
Ttn A G 2: 76,781,740 (GRCm39) V1056A probably benign Het
Usp32 C A 11: 84,949,953 (GRCm39) probably null Het
Vmn1r59 A T 7: 5,457,136 (GRCm39) M208K probably damaging Het
Vmn2r25 T C 6: 123,799,982 (GRCm39) T787A possibly damaging Het
Vps39 A T 2: 120,169,814 (GRCm39) I246N probably benign Het
Xab2 T C 8: 3,660,162 (GRCm39) D855G probably damaging Het
Xpc A G 6: 91,476,993 (GRCm39) S369P probably benign Het
Ythdc2 T A 18: 44,991,265 (GRCm39) C758S possibly damaging Het
Zfp62 A G 11: 49,107,099 (GRCm39) I397V possibly damaging Het
Zscan4d A G 7: 10,896,435 (GRCm39) S312P probably benign Het
Other mutations in Slitrk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Slitrk3 APN 3 72,958,436 (GRCm39) missense probably damaging 1.00
IGL00857:Slitrk3 APN 3 72,957,174 (GRCm39) missense probably damaging 1.00
IGL00990:Slitrk3 APN 3 72,957,414 (GRCm39) missense probably damaging 1.00
IGL01010:Slitrk3 APN 3 72,956,606 (GRCm39) missense probably benign 0.14
IGL01299:Slitrk3 APN 3 72,956,349 (GRCm39) missense probably benign 0.43
IGL01609:Slitrk3 APN 3 72,957,570 (GRCm39) missense probably damaging 1.00
IGL01881:Slitrk3 APN 3 72,956,639 (GRCm39) missense probably benign 0.00
IGL01941:Slitrk3 APN 3 72,958,404 (GRCm39) missense possibly damaging 0.72
IGL02183:Slitrk3 APN 3 72,957,312 (GRCm39) missense probably damaging 0.97
IGL02187:Slitrk3 APN 3 72,957,605 (GRCm39) missense probably damaging 1.00
IGL02478:Slitrk3 APN 3 72,958,046 (GRCm39) missense probably damaging 0.96
IGL02512:Slitrk3 APN 3 72,957,735 (GRCm39) missense probably benign 0.28
IGL02720:Slitrk3 APN 3 72,958,101 (GRCm39) missense probably damaging 1.00
IGL03113:Slitrk3 APN 3 72,957,723 (GRCm39) missense probably benign 0.00
IGL03224:Slitrk3 APN 3 72,957,263 (GRCm39) missense possibly damaging 0.72
wee UTSW 3 72,958,118 (GRCm39) missense probably damaging 1.00
R0233:Slitrk3 UTSW 3 72,955,910 (GRCm39) missense probably benign 0.00
R0233:Slitrk3 UTSW 3 72,955,910 (GRCm39) missense probably benign 0.00
R0639:Slitrk3 UTSW 3 72,956,982 (GRCm39) missense probably benign 0.02
R1448:Slitrk3 UTSW 3 72,957,674 (GRCm39) missense probably damaging 0.99
R1656:Slitrk3 UTSW 3 72,957,672 (GRCm39) missense probably damaging 0.98
R1713:Slitrk3 UTSW 3 72,957,024 (GRCm39) missense probably benign 0.00
R1992:Slitrk3 UTSW 3 72,957,104 (GRCm39) missense possibly damaging 0.80
R1999:Slitrk3 UTSW 3 72,957,297 (GRCm39) missense probably benign 0.13
R2359:Slitrk3 UTSW 3 72,956,678 (GRCm39) missense possibly damaging 0.56
R3083:Slitrk3 UTSW 3 72,955,928 (GRCm39) missense probably benign 0.00
R3153:Slitrk3 UTSW 3 72,956,315 (GRCm39) nonsense probably null
R3821:Slitrk3 UTSW 3 72,956,549 (GRCm39) missense possibly damaging 0.94
R4208:Slitrk3 UTSW 3 72,958,490 (GRCm39) missense possibly damaging 0.67
R4323:Slitrk3 UTSW 3 72,958,118 (GRCm39) missense probably damaging 1.00
R4730:Slitrk3 UTSW 3 72,956,852 (GRCm39) missense probably benign 0.08
R4742:Slitrk3 UTSW 3 72,955,898 (GRCm39) missense probably benign 0.00
R4979:Slitrk3 UTSW 3 72,957,129 (GRCm39) missense possibly damaging 0.95
R5018:Slitrk3 UTSW 3 72,957,845 (GRCm39) missense probably benign 0.31
R5023:Slitrk3 UTSW 3 72,957,981 (GRCm39) missense probably benign 0.24
R5057:Slitrk3 UTSW 3 72,957,981 (GRCm39) missense probably benign 0.24
R5156:Slitrk3 UTSW 3 72,956,592 (GRCm39) missense probably benign
R5500:Slitrk3 UTSW 3 72,957,680 (GRCm39) missense probably damaging 1.00
R5582:Slitrk3 UTSW 3 72,957,737 (GRCm39) missense probably benign 0.09
R5797:Slitrk3 UTSW 3 72,955,962 (GRCm39) missense probably damaging 0.99
R5963:Slitrk3 UTSW 3 72,958,046 (GRCm39) missense probably benign 0.30
R5985:Slitrk3 UTSW 3 72,958,233 (GRCm39) missense probably damaging 1.00
R6123:Slitrk3 UTSW 3 72,957,095 (GRCm39) missense probably damaging 1.00
R6393:Slitrk3 UTSW 3 72,957,247 (GRCm39) missense possibly damaging 0.79
R6529:Slitrk3 UTSW 3 72,958,551 (GRCm39) missense probably benign 0.02
R6584:Slitrk3 UTSW 3 72,956,558 (GRCm39) missense probably damaging 0.99
R6645:Slitrk3 UTSW 3 72,957,194 (GRCm39) missense probably benign 0.13
R7001:Slitrk3 UTSW 3 72,957,942 (GRCm39) nonsense probably null
R7282:Slitrk3 UTSW 3 72,957,798 (GRCm39) missense possibly damaging 0.70
R7534:Slitrk3 UTSW 3 72,957,440 (GRCm39) missense probably damaging 0.98
R7577:Slitrk3 UTSW 3 72,958,448 (GRCm39) missense probably damaging 0.99
R7757:Slitrk3 UTSW 3 72,958,172 (GRCm39) missense probably damaging 1.00
R8251:Slitrk3 UTSW 3 72,956,729 (GRCm39) missense possibly damaging 0.67
R8354:Slitrk3 UTSW 3 72,956,513 (GRCm39) missense probably benign 0.08
R8454:Slitrk3 UTSW 3 72,956,513 (GRCm39) missense probably benign 0.08
R8488:Slitrk3 UTSW 3 72,958,520 (GRCm39) missense probably benign 0.02
R8491:Slitrk3 UTSW 3 72,958,592 (GRCm39) missense possibly damaging 0.89
R8843:Slitrk3 UTSW 3 72,956,164 (GRCm39) missense probably benign 0.04
R9140:Slitrk3 UTSW 3 72,957,792 (GRCm39) missense probably benign 0.02
R9451:Slitrk3 UTSW 3 72,958,616 (GRCm39) missense possibly damaging 0.83
R9511:Slitrk3 UTSW 3 72,958,272 (GRCm39) missense possibly damaging 0.46
R9575:Slitrk3 UTSW 3 72,956,127 (GRCm39) missense probably benign 0.00
R9589:Slitrk3 UTSW 3 72,957,981 (GRCm39) missense probably benign 0.24
R9603:Slitrk3 UTSW 3 72,958,649 (GRCm39) missense probably benign 0.00
X0022:Slitrk3 UTSW 3 72,957,599 (GRCm39) missense probably damaging 1.00
Z1176:Slitrk3 UTSW 3 72,956,103 (GRCm39) missense probably benign 0.09
Z1177:Slitrk3 UTSW 3 72,956,475 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCAAGGAAGGTGTCATTTCTG -3'
(R):5'- TGCTGTGGATAATTCTTCTAAGCAC -3'

Sequencing Primer
(F):5'- GGAAGGTGTCATTTCTGAAGACATC -3'
(R):5'- GCACAATTGCTCTAGGATGGACTAC -3'
Posted On 2015-09-24