Incidental Mutation 'R7282:Slitrk3'
ID 565707
Institutional Source Beutler Lab
Gene Symbol Slitrk3
Ensembl Gene ENSMUSG00000048304
Gene Name SLIT and NTRK-like family, member 3
Synonyms ST3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R7282 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 72954598-72965136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72957798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 325 (V325I)
Ref Sequence ENSEMBL: ENSMUSP00000088561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059407] [ENSMUST00000192477]
AlphaFold Q810B9
Predicted Effect possibly damaging
Transcript: ENSMUST00000059407
AA Change: V325I

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000088561
Gene: ENSMUSG00000048304
AA Change: V325I

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 possibly damaging
Transcript: ENSMUST00000192477
AA Change: V325I

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141236
Gene: ENSMUSG00000048304
AA Change: V325I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C A 11: 58,316,582 (GRCm39) D187E probably damaging Het
Abl2 T C 1: 156,457,630 (GRCm39) Y299H probably damaging Het
Acsl3 T A 1: 78,659,709 (GRCm39) N120K probably damaging Het
Aldh1a1 A G 19: 20,606,434 (GRCm39) K255R possibly damaging Het
Baz2b C T 2: 59,750,781 (GRCm39) R1205H probably benign Het
Btbd8 G T 5: 107,655,062 (GRCm39) V954L probably benign Het
Btbd8 A G 5: 107,658,371 (GRCm39) D1647G probably damaging Het
Carmil1 A G 13: 24,197,387 (GRCm39) S1350P probably benign Het
Cecr2 A T 6: 120,738,582 (GRCm39) N325I Het
Cep120 C T 18: 53,873,161 (GRCm39) A57T probably damaging Het
Chst8 T C 7: 34,447,628 (GRCm39) probably null Het
Cntn4 A T 6: 106,502,421 (GRCm39) I393F probably damaging Het
Crocc T C 4: 140,749,652 (GRCm39) D1494G probably damaging Het
Cwc25 T C 11: 97,638,832 (GRCm39) E364G possibly damaging Het
Dnah7a C A 1: 53,724,059 (GRCm39) probably null Het
Drg2 A G 11: 60,345,519 (GRCm39) E5G probably benign Het
Ehd4 T C 2: 119,921,729 (GRCm39) H509R probably damaging Het
Enam A T 5: 88,650,186 (GRCm39) N565I probably damaging Het
Evi2a G T 11: 79,418,249 (GRCm39) N120K probably benign Het
Faim A G 9: 98,874,179 (GRCm39) T2A probably benign Het
Fcgbpl1 A G 7: 27,843,833 (GRCm39) N907S probably benign Het
Fmnl1 T C 11: 103,087,091 (GRCm39) V836A unknown Het
Fosb T C 7: 19,039,113 (GRCm39) I224V possibly damaging Het
Frem3 A T 8: 81,338,660 (GRCm39) T318S probably damaging Het
Gm9972 G A 11: 42,927,631 (GRCm39) G93R unknown Het
Gtf2a1 A T 12: 91,534,609 (GRCm39) I215N possibly damaging Het
Hs3st3b1 A G 11: 63,812,397 (GRCm39) V106A probably benign Het
Igkv19-93 T C 6: 68,713,485 (GRCm39) D48G probably benign Het
Itgb8 A T 12: 119,201,443 (GRCm39) W31R probably benign Het
Kmt2d A T 15: 98,751,985 (GRCm39) W1995R unknown Het
Lama3 G T 18: 12,572,449 (GRCm39) Q551H probably damaging Het
Lama5 T C 2: 179,843,588 (GRCm39) Y453C probably damaging Het
Lbhd2 G A 12: 111,376,724 (GRCm39) R57H probably damaging Het
Lcmt2 A G 2: 120,969,271 (GRCm39) V384A probably damaging Het
Lgsn T G 1: 31,242,452 (GRCm39) L178R probably damaging Het
Lhcgr C T 17: 89,065,811 (GRCm39) V193I probably benign Het
Lta4h T C 10: 93,289,373 (GRCm39) M1T probably null Het
Ly6l T C 15: 75,321,345 (GRCm39) S14P probably damaging Het
Met C A 6: 17,547,011 (GRCm39) C881* probably null Het
Mettl21e A T 1: 44,249,399 (GRCm39) Y86N probably damaging Het
Mgam A T 6: 40,633,446 (GRCm39) N251Y possibly damaging Het
Mgam A G 6: 40,740,045 (GRCm39) T1673A probably benign Het
Mmp27 T A 9: 7,578,231 (GRCm39) V357D probably damaging Het
Muc2 A G 7: 141,306,481 (GRCm39) E740G Het
Myoc C A 1: 162,476,413 (GRCm39) S372R probably benign Het
Ncor2 A T 5: 125,097,104 (GRCm39) M1358K Het
Nol6 A G 4: 41,119,468 (GRCm39) S613P probably benign Het
Nuggc T A 14: 65,855,072 (GRCm39) I334N probably damaging Het
Nxnl2 C T 13: 51,325,542 (GRCm39) P62S probably damaging Het
Ogfod1 C T 8: 94,764,067 (GRCm39) H51Y possibly damaging Het
Olfml1 T A 7: 107,189,530 (GRCm39) D198E possibly damaging Het
Or2t26 A C 11: 49,039,945 (GRCm39) N287T probably damaging Het
Ovch2 C T 7: 107,393,577 (GRCm39) R183H possibly damaging Het
Plxnd1 A T 6: 115,937,798 (GRCm39) L1516Q probably damaging Het
Pramel27 A G 4: 143,578,451 (GRCm39) N237S possibly damaging Het
Prrc2c A G 1: 162,507,543 (GRCm39) V2448A possibly damaging Het
Rexo5 C T 7: 119,417,636 (GRCm39) T212I probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rnf213 T G 11: 119,328,818 (GRCm39) I2030S Het
Rtf1 C T 2: 119,505,580 (GRCm39) A11V unknown Het
Setdb1 T G 3: 95,245,985 (GRCm39) T647P probably damaging Het
Shisa6 G C 11: 66,393,480 (GRCm39) P272R possibly damaging Het
Slc25a54 G T 3: 109,023,817 (GRCm39) G471* probably null Het
Slc30a1 A G 1: 191,641,544 (GRCm39) T397A probably benign Het
Slc7a14 A G 3: 31,281,302 (GRCm39) F336S possibly damaging Het
Sptan1 A G 2: 29,876,941 (GRCm39) Y361C probably damaging Het
Stard9 A G 2: 120,528,984 (GRCm39) D1747G probably benign Het
Taf3 T C 2: 9,956,253 (GRCm39) E638G probably damaging Het
Tbc1d8 T C 1: 39,411,614 (GRCm39) D1074G probably benign Het
Tecrl G A 5: 83,502,754 (GRCm39) H32Y probably benign Het
Tgm3 T A 2: 129,866,481 (GRCm39) M133K probably benign Het
Tmem131 A G 1: 36,880,685 (GRCm39) F195S probably damaging Het
Tmem82 T C 4: 141,342,261 (GRCm39) I314V possibly damaging Het
Trappc10 T C 10: 78,043,327 (GRCm39) E555G probably damaging Het
Ubn2 A T 6: 38,429,811 (GRCm39) K176* probably null Het
Ucp1 G A 8: 84,020,531 (GRCm39) G114R probably benign Het
Unc5c A G 3: 141,383,751 (GRCm39) D43G probably damaging Het
Vmn2r3 C T 3: 64,168,825 (GRCm39) V571M possibly damaging Het
Vwa3a A T 7: 120,385,688 (GRCm39) I677L probably benign Het
Wdr48 T C 9: 119,740,147 (GRCm39) S319P probably damaging 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
R4580:Slitrk3 UTSW 3 72,958,539 (GRCm39) missense probably damaging 0.96
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
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'- TGCATGTACACCCAGTAGGAC -3'
(R):5'- GGCTGGAGCGAATACCTTACAC -3'

Sequencing Primer
(F):5'- TGTACACCCAGTAGGACATATAATGG -3'
(R):5'- GAGACATTACCTGTGAGACACCTTTC -3'
Posted On 2019-06-26