Incidental Mutation 'IGL02023:Cd99l2'
ID184034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd99l2
Ensembl Gene ENSMUSG00000035776
Gene NameCD99 antigen-like 2
SynonymsMic2l1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02023
Quality Score
Status
ChromosomeX
Chromosomal Location71420060-71492849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 71449946 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 64 (N64K)
Ref Sequence ENSEMBL: ENSMUSP00000042606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037391] [ENSMUST00000080035] [ENSMUST00000114586] [ENSMUST00000114587]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037391
AA Change: N64K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042606
Gene: ENSMUSG00000035776
AA Change: N64K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:CD99L2 30 215 9.7e-73 PFAM
low complexity region 228 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080035
SMART Domains Protein: ENSMUSP00000078944
Gene: ENSMUSG00000035776

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:CD99L2 30 192 1.3e-59 PFAM
low complexity region 205 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114586
SMART Domains Protein: ENSMUSP00000110234
Gene: ENSMUSG00000035776

DomainStartEndE-ValueType
Pfam:CD99L2 18 168 3.8e-52 PFAM
low complexity region 181 188 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114587
AA Change: N43K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110235
Gene: ENSMUSG00000035776
AA Change: N43K

DomainStartEndE-ValueType
Pfam:CD99L2 14 194 9.4e-59 PFAM
low complexity region 207 214 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128515
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous KO in endothelial cells hinders neutrophil and T cell extravasation and reduces the delayed-type (type IV) hypersensitivity reaction in inflamed tissue. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ahcyl1 A T 3: 107,667,694 N444K probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atf6b T C 17: 34,651,867 V401A possibly damaging Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Lsg1 T C 16: 30,585,676 H35R probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Nhsl2 A G X: 102,078,252 R554G probably damaging Het
Npdc1 T A 2: 25,408,020 probably benign Het
Olfr171 A T 16: 19,624,408 S231T probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Ppard A G 17: 28,298,897 H313R probably benign Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Cd99l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1088:Cd99l2 UTSW X 71441088 missense probably damaging 1.00
Z1088:Cd99l2 UTSW X 71441146 critical splice acceptor site probably null
Posted On2014-05-07