Incidental Mutation 'IGL02187:Lrfn3'
ID283710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrfn3
Ensembl Gene ENSMUSG00000036957
Gene Nameleucine rich repeat and fibronectin type III domain containing 3
SynonymsSALM4, A530045B06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02187
Quality Score
Status
Chromosome7
Chromosomal Location30355489-30362772 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30355964 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 519 (S519P)
Ref Sequence ENSEMBL: ENSMUSP00000037616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046351]
Predicted Effect probably damaging
Transcript: ENSMUST00000046351
AA Change: S519P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: S519P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 27 63 7.74e-2 SMART
LRR_TYP 82 105 5.81e-2 SMART
LRR_TYP 106 129 5.06e-2 SMART
LRR_TYP 130 153 6.42e-4 SMART
LRR 158 178 9.24e1 SMART
LRR 179 202 2.67e-1 SMART
LRR 203 226 1.12e1 SMART
LRRCT 249 294 2.72e-3 SMART
IGc2 308 373 2.23e-10 SMART
FN3 423 506 4e-1 SMART
transmembrane domain 538 560 N/A INTRINSIC
low complexity region 592 606 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208824
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased frequency of excitatory and inhibitory postsynaptic freuqency and synapse density, [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 113,713,194 E922D possibly damaging Het
Asxl3 T A 18: 22,524,978 M2015K probably damaging Het
C8a C A 4: 104,862,736 R15L probably damaging Het
Catsperg2 A G 7: 29,721,366 V47A probably benign Het
Ccdc84 C T 9: 44,410,787 probably benign Het
Cdhr2 C T 13: 54,733,710 T1081I possibly damaging Het
Cep85 T A 4: 134,131,305 M752L possibly damaging Het
Cxcr3 T A X: 101,732,877 S60C probably damaging Het
Cyp24a1 T A 2: 170,494,093 N208I probably damaging Het
Cyp2c38 A G 19: 39,436,205 I223T probably benign Het
Dennd6a A G 14: 26,606,926 I35V probably benign Het
Emb T G 13: 117,268,971 probably benign Het
Fbxo3 T C 2: 104,027,950 Y30H probably damaging Het
Fnbp1l G A 3: 122,568,800 R120* probably null Het
Galnt2 T C 8: 124,305,506 probably benign Het
Gckr T C 5: 31,307,424 probably benign Het
Gpr101 A G X: 57,501,481 F103S probably damaging Het
Gprasp1 T A X: 135,799,163 V35E probably damaging Het
Ift80 C A 3: 68,985,456 W133L probably damaging Het
Impdh1 C A 6: 29,207,087 probably benign Het
Ino80 T C 2: 119,445,457 probably benign Het
Kansl1 A T 11: 104,378,831 probably null Het
Klhl20 C T 1: 161,109,710 V32I probably benign Het
Mrpl51 A G 6: 125,193,331 N100S probably benign Het
Mybpc3 T C 2: 91,135,452 I1203T probably benign Het
Nbr1 A G 11: 101,569,359 I394V possibly damaging Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Olfr854 T A 9: 19,567,097 T96S probably benign Het
Pan3 T C 5: 147,526,588 I440T probably benign Het
Patz1 T C 11: 3,291,134 L174P probably damaging Het
Paxx A G 2: 25,460,656 L62P probably damaging Het
Plekhh1 T C 12: 79,072,818 S972P probably damaging Het
Ppp1r13b G T 12: 111,835,038 T404K probably damaging Het
Prkaa2 T C 4: 105,047,166 N238S probably benign Het
Prpf6 T C 2: 181,616,016 Y94H probably damaging Het
Rtn4 T C 11: 29,708,291 I815T possibly damaging Het
Slc44a5 A G 3: 154,262,917 T582A probably benign Het
Slitrk3 A G 3: 73,050,272 L389S probably damaging Het
Srp54b T A 12: 55,252,775 M297K probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zmym4 T A 4: 126,870,273 I1325L probably damaging Het
Zswim2 C A 2: 83,923,638 R226L probably damaging Het
Other mutations in Lrfn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0565:Lrfn3 UTSW 7 30360791 missense probably benign 0.01
R0826:Lrfn3 UTSW 7 30360251 missense probably benign 0.01
R1029:Lrfn3 UTSW 7 30355922 missense probably damaging 0.99
R1434:Lrfn3 UTSW 7 30355927 missense possibly damaging 0.79
R1442:Lrfn3 UTSW 7 30360044 missense probably benign 0.01
R2078:Lrfn3 UTSW 7 30360454 missense possibly damaging 0.93
R4580:Lrfn3 UTSW 7 30360042 missense probably damaging 0.99
R4883:Lrfn3 UTSW 7 30355813 missense possibly damaging 0.87
R4928:Lrfn3 UTSW 7 30360623 missense possibly damaging 0.77
R5000:Lrfn3 UTSW 7 30360380 missense possibly damaging 0.48
R5364:Lrfn3 UTSW 7 30355653 missense possibly damaging 0.91
R5732:Lrfn3 UTSW 7 30359606 missense probably benign 0.22
R5857:Lrfn3 UTSW 7 30359438 missense possibly damaging 0.94
X0064:Lrfn3 UTSW 7 30360461 missense probably benign 0.17
Z1088:Lrfn3 UTSW 7 30360201 missense probably damaging 1.00
Posted On2015-04-16