Incidental Mutation 'IGL01612:Lrfn2'
ID92149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrfn2
Ensembl Gene ENSMUSG00000040490
Gene Nameleucine rich repeat and fibronectin type III domain containing 2
Synonyms5730420O05Rik, SALM1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01612
Quality Score
Status
Chromosome17
Chromosomal Location48932379-49097588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 49070397 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 169 (V169L)
Ref Sequence ENSEMBL: ENSMUSP00000047573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046254]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046254
AA Change: V169L

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: V169L

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
LRRNT 20 56 2.9e0 SMART
LRR 75 98 7.36e0 SMART
LRR_TYP 99 122 1.1e-2 SMART
LRR_TYP 123 146 2.2e-2 SMART
LRR 148 171 4.45e1 SMART
LRR_TYP 172 195 1.56e-2 SMART
LRR 196 220 1.06e1 SMART
LRRCT 242 287 5.53e-4 SMART
IGc2 301 366 8e-12 SMART
low complexity region 401 415 N/A INTRINSIC
FN3 420 500 1.52e-1 SMART
transmembrane domain 533 555 N/A INTRINSIC
low complexity region 613 654 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit small spleens, small or no thymi, impaired T cell development, and decreased T cell proliferation in response to mitogen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,031 T1326A possibly damaging Het
Afg3l1 C T 8: 123,494,853 R484C probably benign Het
Atg2a C A 19: 6,252,484 Q946K probably benign Het
Cdh20 T C 1: 104,994,170 Y731H probably benign Het
Cdk15 A G 1: 59,289,773 D282G possibly damaging Het
Ctnnd2 T C 15: 31,005,018 S1073P probably damaging Het
Dnah2 T C 11: 69,465,063 probably benign Het
Evi2a T A 11: 79,527,152 R211W probably damaging Het
Fmo1 T A 1: 162,833,599 I372F probably benign Het
Glyctk T C 9: 106,155,272 D514G probably damaging Het
Gmnc G A 16: 26,960,319 Q313* probably null Het
Grik1 T C 16: 87,946,735 T520A probably damaging Het
Gtsf2 A T 15: 103,444,913 C9S probably damaging Het
Ift80 T G 3: 68,963,663 N200T possibly damaging Het
Ints1 A G 5: 139,756,292 S1771P probably benign Het
Lrba A G 3: 86,776,177 T2769A possibly damaging Het
Mei1 G A 15: 82,089,552 R80H probably damaging Het
Nbeal2 A T 9: 110,644,678 V31E probably damaging Het
Ncapd2 G T 6: 125,177,872 P546T probably benign Het
Olfr685 A G 7: 105,180,722 V212A probably damaging Het
Pan3 T C 5: 147,453,242 probably benign Het
Rab3b T A 4: 108,924,026 probably null Het
Rabl2 T C 15: 89,583,412 K119E probably benign Het
Reln A G 5: 21,896,930 V3334A probably damaging Het
Rfx1 A G 8: 84,092,972 probably null Het
Rhod T C 19: 4,426,219 Y168C probably damaging Het
Sag T C 1: 87,805,349 I13T probably damaging Het
Sat2 T C 11: 69,622,963 probably null Het
Scn5a A T 9: 119,486,025 D1872E possibly damaging Het
Sh2b2 T G 5: 136,231,802 I187L probably benign Het
Slit3 G A 11: 35,700,384 G1341D possibly damaging Het
Tmed11 A T 5: 108,779,884 S95T possibly damaging Het
Tmem186 A G 16: 8,635,869 V176A possibly damaging Het
Trim12c A T 7: 104,348,215 S45T possibly damaging Het
Ube4b C A 4: 149,383,818 R167L probably damaging Het
Zfp335 A T 2: 164,910,620 probably null Het
Other mutations in Lrfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Lrfn2 APN 17 49071085 missense probably damaging 1.00
IGL03324:Lrfn2 APN 17 49070887 missense probably damaging 1.00
IGL02991:Lrfn2 UTSW 17 49070704 missense probably damaging 1.00
R0306:Lrfn2 UTSW 17 49096255 missense probably damaging 0.99
R0539:Lrfn2 UTSW 17 49071044 missense probably damaging 1.00
R1245:Lrfn2 UTSW 17 49096249 critical splice acceptor site probably null
R1414:Lrfn2 UTSW 17 49070829 missense probably benign 0.01
R1437:Lrfn2 UTSW 17 49071225 missense probably damaging 0.97
R1670:Lrfn2 UTSW 17 49096577 missense probably benign 0.01
R2358:Lrfn2 UTSW 17 49071160 missense possibly damaging 0.92
R3711:Lrfn2 UTSW 17 49071160 missense possibly damaging 0.92
R3712:Lrfn2 UTSW 17 49071160 missense possibly damaging 0.92
R4521:Lrfn2 UTSW 17 49069894 start codon destroyed probably null 0.02
R4532:Lrfn2 UTSW 17 49070536 missense probably damaging 1.00
R4724:Lrfn2 UTSW 17 49070434 missense probably damaging 1.00
R5062:Lrfn2 UTSW 17 49070500 missense probably damaging 1.00
R5066:Lrfn2 UTSW 17 49096420 missense probably damaging 1.00
R5348:Lrfn2 UTSW 17 49096690 missense probably benign
R5673:Lrfn2 UTSW 17 49096597 missense probably benign 0.02
R5900:Lrfn2 UTSW 17 49070263 missense possibly damaging 0.82
R6014:Lrfn2 UTSW 17 49069906 missense possibly damaging 0.96
R6087:Lrfn2 UTSW 17 49071126 missense probably benign
R6224:Lrfn2 UTSW 17 49096351 missense probably damaging 1.00
R6229:Lrfn2 UTSW 17 49097132 missense possibly damaging 0.88
R6342:Lrfn2 UTSW 17 49097000 missense probably benign 0.27
R6408:Lrfn2 UTSW 17 49070626 missense probably damaging 1.00
R7026:Lrfn2 UTSW 17 49096977 missense probably benign 0.00
Posted On2013-12-09