Incidental Mutation 'IGL02336:Cd180'
ID288843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd180
Ensembl Gene ENSMUSG00000021624
Gene NameCD180 antigen
SynonymsLy78, RP105
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02336
Quality Score
Status
Chromosome13
Chromosomal Location102693558-102739629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102705313 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 289 (I289N)
Ref Sequence ENSEMBL: ENSMUSP00000022124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022124] [ENSMUST00000167144] [ENSMUST00000170878] [ENSMUST00000171267] [ENSMUST00000172138]
PDB Structure
Crystal structure of mouse RP105/MD-1 complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000022124
AA Change: I289N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: I289N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LRR 76 99 1.07e0 SMART
LRR 193 221 1.76e2 SMART
LRR 297 320 1.66e1 SMART
Pfam:LRR_8 321 382 4.2e-13 PFAM
LRR 395 418 3e1 SMART
LRR 444 467 3.09e1 SMART
LRR 495 518 4.97e0 SMART
LRR 519 542 2.4e1 SMART
low complexity region 555 567 N/A INTRINSIC
LRRCT 577 626 5.11e-8 SMART
transmembrane domain 628 650 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167144
SMART Domains Protein: ENSMUSP00000133015
Gene: ENSMUSG00000021624

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170878
SMART Domains Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDB:3T6Q|B 21 86 3e-38 PDB
SCOP:d1m0za_ 35 84 4e-4 SMART
Blast:LRR 51 75 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171267
SMART Domains Protein: ENSMUSP00000129096
Gene: ENSMUSG00000021624

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDB:3T6Q|B 21 86 2e-38 PDB
SCOP:d1m0za_ 35 84 9e-4 SMART
Blast:LRR 51 75 7e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172138
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation showed impaired proliferative and humoral immune responses of B cells to lipopolysaccharides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,289,032 V2127A probably damaging Het
Accsl A G 2: 93,865,908 V119A possibly damaging Het
Adamts12 T A 15: 11,311,245 M1196K probably benign Het
Adgre1 T A 17: 57,411,024 C345* probably null Het
Adrb2 T C 18: 62,179,007 E249G probably benign Het
Amdhd1 T A 10: 93,524,429 I423F probably benign Het
Ankhd1 A G 18: 36,594,814 N501S probably damaging Het
Chst5 T A 8: 111,890,317 I224F probably damaging Het
Cox6a2 A G 7: 128,205,931 I60T possibly damaging Het
Dnajc6 C T 4: 101,614,286 probably null Het
Dpp6 G A 5: 27,469,411 E179K probably benign Het
Fasn G A 11: 120,813,736 T1341I possibly damaging Het
Fat1 C T 8: 44,951,583 T457I probably benign Het
Filip1l A T 16: 57,571,733 probably null Het
Gje1 A T 10: 14,716,669 I123N probably damaging Het
Gli3 A G 13: 15,720,289 T683A probably damaging Het
Gm29326 C A 7: 29,561,408 noncoding transcript Het
Gm5460 A G 14: 34,043,952 probably benign Het
Hspa4 C T 11: 53,262,373 S739N probably benign Het
Ighv1-42 T A 12: 114,937,265 I67F probably damaging Het
Iqgap1 A G 7: 80,752,293 V408A probably benign Het
Kdm7a A T 6: 39,170,264 W250R probably damaging Het
Kif5a A G 10: 127,242,696 I360T possibly damaging Het
Maml1 T C 11: 50,258,165 N916S probably benign Het
Mier2 A T 10: 79,548,350 probably benign Het
Mpst A T 15: 78,410,274 T69S probably benign Het
Nlk C A 11: 78,586,937 V327F probably damaging Het
Nme5 A T 18: 34,578,677 S4T probably benign Het
Notch2 A G 3: 98,138,395 I1625M possibly damaging Het
Nup210l T C 3: 90,181,552 probably null Het
Oas1d A G 5: 120,919,048 E239G probably damaging Het
Olfm4 T C 14: 80,006,321 S110P probably damaging Het
Olfr589 T C 7: 103,155,565 M61V probably benign Het
Parn T A 16: 13,566,703 I499F probably damaging Het
Ppargc1a G A 5: 51,495,726 Q165* probably null Het
Ppp1r12b T A 1: 134,886,506 E353V probably damaging Het
Prkdc A G 16: 15,785,978 Q2952R possibly damaging Het
Prkdc G T 16: 15,785,979 Q2952H probably benign Het
Qars G T 9: 108,514,986 E143* probably null Het
Reln A G 5: 21,929,134 Y2599H probably damaging Het
Rnf123 T C 9: 108,061,842 E803G probably damaging Het
Rnf141 G A 7: 110,837,198 Q8* probably null Het
Rnf167 A G 11: 70,650,126 I193V probably benign Het
Rprd2 A T 3: 95,787,310 M137K probably benign Het
Rtf1 T G 2: 119,728,745 probably benign Het
Serpina1d T A 12: 103,764,796 R308* probably null Het
Smg7 T C 1: 152,843,279 Y899C probably benign Het
Tbr1 C A 2: 61,804,992 H95Q possibly damaging Het
Tcf19 A T 17: 35,514,483 probably null Het
Timm44 T A 8: 4,267,692 R210W probably damaging Het
Trnau1ap C A 4: 132,314,020 E194* probably null Het
Trp63 G A 16: 25,820,442 G127S probably damaging Het
Trrap C T 5: 144,798,390 A989V probably benign Het
Ttn T C 2: 76,769,982 D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,179,952 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn1r80 A G 7: 12,193,254 Y97C probably benign Het
Vmn2r77 G A 7: 86,802,016 C370Y probably damaging Het
Xntrpc C A 7: 102,084,285 A147D probably damaging Het
Zc3h4 C T 7: 16,425,777 S424F unknown Het
Zcwpw1 T A 5: 137,810,114 S275T probably damaging Het
Zfp979 C T 4: 147,615,351 C44Y probably damaging Het
Zscan20 T C 4: 128,585,794 H968R probably damaging Het
Zswim3 T C 2: 164,820,377 V259A probably damaging Het
Zzz3 T G 3: 152,428,059 D251E possibly damaging Het
Other mutations in Cd180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Cd180 APN 13 102705409 missense probably benign
IGL00949:Cd180 APN 13 102693760 missense possibly damaging 0.89
IGL01864:Cd180 APN 13 102706033 missense possibly damaging 0.93
IGL01901:Cd180 APN 13 102706428 missense probably benign 0.04
IGL01934:Cd180 APN 13 102702858 missense probably damaging 1.00
IGL01998:Cd180 APN 13 102705214 missense probably damaging 0.99
IGL03031:Cd180 APN 13 102705027 missense probably benign 0.00
IGL03139:Cd180 APN 13 102706416 missense probably damaging 1.00
Volte_face UTSW 13 102704923 missense probably damaging 0.99
H8562:Cd180 UTSW 13 102705418 missense probably benign 0.02
R0004:Cd180 UTSW 13 102702708 missense probably benign 0.00
R0393:Cd180 UTSW 13 102705900 missense probably damaging 0.99
R0565:Cd180 UTSW 13 102702874 intron probably benign
R1080:Cd180 UTSW 13 102706220 nonsense probably null
R1223:Cd180 UTSW 13 102706222 missense possibly damaging 0.49
R1669:Cd180 UTSW 13 102705490 missense probably damaging 1.00
R1772:Cd180 UTSW 13 102706242 missense probably benign 0.11
R1784:Cd180 UTSW 13 102705859 missense probably damaging 1.00
R1865:Cd180 UTSW 13 102706009 missense probably benign
R2252:Cd180 UTSW 13 102706398 nonsense probably null
R2385:Cd180 UTSW 13 102705183 missense probably benign 0.00
R4653:Cd180 UTSW 13 102704908 missense probably damaging 1.00
R4695:Cd180 UTSW 13 102705760 missense probably benign 0.01
R4790:Cd180 UTSW 13 102702822 missense probably damaging 0.98
R4934:Cd180 UTSW 13 102739164 critical splice acceptor site probably null
R5052:Cd180 UTSW 13 102704895 missense probably benign
R5154:Cd180 UTSW 13 102705774 missense probably damaging 1.00
R5469:Cd180 UTSW 13 102704834 missense probably benign 0.37
R5493:Cd180 UTSW 13 102706141 missense probably benign 0.07
R5615:Cd180 UTSW 13 102706203 missense probably benign 0.34
R5905:Cd180 UTSW 13 102706033 missense possibly damaging 0.93
R6282:Cd180 UTSW 13 102693757 missense possibly damaging 0.90
R6433:Cd180 UTSW 13 102705633 missense probably benign 0.00
R6456:Cd180 UTSW 13 102702836 missense probably damaging 1.00
R6784:Cd180 UTSW 13 102702705 missense probably damaging 0.97
R6815:Cd180 UTSW 13 102705429 missense probably damaging 1.00
R6838:Cd180 UTSW 13 102702731 missense probably benign 0.38
R6941:Cd180 UTSW 13 102706191 missense probably benign 0.23
R7048:Cd180 UTSW 13 102704923 missense probably damaging 0.99
R7338:Cd180 UTSW 13 102706428 missense probably benign 0.04
R7466:Cd180 UTSW 13 102704995 missense probably damaging 1.00
R7647:Cd180 UTSW 13 102705943 missense probably damaging 1.00
Posted On2015-04-16