Incidental Mutation 'IGL02593:Lnx2'
ID 299786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lnx2
Ensembl Gene ENSMUSG00000016520
Gene Name ligand of numb-protein X 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02593
Quality Score
Status
Chromosome 5
Chromosomal Location 147016655-147076586 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 147033015 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 238 (S238P)
Ref Sequence ENSEMBL: ENSMUSP00000016664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016664]
AlphaFold Q91XL2
Predicted Effect possibly damaging
Transcript: ENSMUST00000016664
AA Change: S238P

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: S238P

DomainStartEndE-ValueType
RING 51 88 2.06e-6 SMART
low complexity region 103 114 N/A INTRINSIC
PDZ 242 317 2.25e-17 SMART
PDZ 348 421 2.97e-17 SMART
PDZ 474 553 7.37e-13 SMART
PDZ 606 683 1.27e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg G T 16: 22,892,328 probably null Het
Bbs4 C T 9: 59,328,597 D232N probably damaging Het
Cdh23 A T 10: 60,465,995 probably benign Het
Cntn5 T C 9: 9,833,499 N554S probably damaging Het
Fn1 T C 1: 71,602,432 I1652V probably benign Het
Gm17677 T A 9: 35,742,142 C81S possibly damaging Het
Gm364 G A X: 57,421,960 D245N probably benign Het
Golga4 T C 9: 118,555,566 probably benign Het
Idh3a T A 9: 54,596,193 probably benign Het
Jph2 T C 2: 163,397,246 Y94C probably damaging Het
Loxhd1 A G 18: 77,410,539 I56V possibly damaging Het
Myo9b A C 8: 71,290,773 E159D probably damaging Het
Nkiras1 A G 14: 18,278,475 N63S possibly damaging Het
Nnmt A G 9: 48,604,803 probably null Het
Olfr535 G A 7: 140,493,331 R231H probably benign Het
P2ry10 T C X: 107,102,696 I79T possibly damaging Het
Padi2 A G 4: 140,949,842 H647R probably damaging Het
Ptchd4 A G 17: 42,317,146 D166G probably benign Het
Scml2 T C X: 161,187,309 V125A probably benign Het
Senp2 A G 16: 22,044,271 D556G probably damaging Het
Serpina3a G T 12: 104,118,432 V29L probably benign Het
Sgcz A T 8: 37,523,278 I307N probably damaging Het
Slc25a13 C T 6: 6,042,265 V638I probably benign Het
Snx7 G A 3: 117,839,960 L84F probably damaging Het
Ticrr A G 7: 79,695,466 D1693G probably damaging Het
Vmn2r7 C T 3: 64,693,022 C485Y probably damaging Het
Vmn2r-ps129 C T 17: 22,992,796 noncoding transcript Het
Zfyve9 A G 4: 108,682,223 V951A possibly damaging Het
Other mutations in Lnx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Lnx2 APN 5 147028174 missense probably damaging 1.00
IGL02820:Lnx2 APN 5 147042067 missense probably damaging 0.98
R0051:Lnx2 UTSW 5 147029353 missense probably damaging 0.96
R0389:Lnx2 UTSW 5 147019040 missense possibly damaging 0.51
R0482:Lnx2 UTSW 5 147018961 missense probably damaging 0.99
R1601:Lnx2 UTSW 5 147033519 missense probably damaging 0.99
R1604:Lnx2 UTSW 5 147029325 missense probably benign 0.02
R1647:Lnx2 UTSW 5 147027342 missense probably benign 0.04
R3001:Lnx2 UTSW 5 147019015 missense probably benign 0.00
R3002:Lnx2 UTSW 5 147019015 missense probably benign 0.00
R4734:Lnx2 UTSW 5 147029137 missense probably damaging 1.00
R4960:Lnx2 UTSW 5 147019040 missense probably benign 0.09
R5387:Lnx2 UTSW 5 147028154 missense probably benign 0.00
R5689:Lnx2 UTSW 5 147029151 missense probably damaging 1.00
R5950:Lnx2 UTSW 5 147024350 critical splice donor site probably null
R6161:Lnx2 UTSW 5 147042026 splice site probably null
R6623:Lnx2 UTSW 5 147024487 missense probably damaging 1.00
R7086:Lnx2 UTSW 5 147020178 splice site probably null
R7320:Lnx2 UTSW 5 147020133 missense possibly damaging 0.71
R7701:Lnx2 UTSW 5 147024523 missense probably damaging 1.00
R7887:Lnx2 UTSW 5 147019043 missense probably damaging 1.00
R8153:Lnx2 UTSW 5 147028096 missense probably benign
R8267:Lnx2 UTSW 5 147029091 missense probably damaging 1.00
R8298:Lnx2 UTSW 5 147024517 missense probably benign 0.05
R8384:Lnx2 UTSW 5 147029328 missense probably benign 0.01
R8446:Lnx2 UTSW 5 147033359 missense probably benign
R8971:Lnx2 UTSW 5 147033426 missense probably benign
R9378:Lnx2 UTSW 5 147024370 missense probably benign 0.16
Posted On 2015-04-16