Incidental Mutation 'IGL02336:Cd180'
ID 288843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd180
Ensembl Gene ENSMUSG00000021624
Gene Name CD180 antigen
Synonyms Ly78, RP105
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02336
Quality Score
Status
Chromosome 13
Chromosomal Location 102830055-102843139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102841821 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q62192
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
Accsl A G 2: 93,696,253 (GRCm39) V119A possibly damaging Het
Adamts12 T A 15: 11,311,331 (GRCm39) M1196K probably benign Het
Adgre1 T A 17: 57,718,024 (GRCm39) C345* probably null Het
Adrb2 T C 18: 62,312,078 (GRCm39) E249G probably benign Het
Amdhd1 T A 10: 93,360,291 (GRCm39) I423F probably benign Het
Ankhd1 A G 18: 36,727,867 (GRCm39) N501S probably damaging Het
Bltp2 T C 11: 78,179,858 (GRCm39) V2127A probably damaging Het
Chst5 T A 8: 112,616,949 (GRCm39) I224F probably damaging Het
Cox6a2 A G 7: 127,805,103 (GRCm39) I60T possibly damaging Het
Dnajc6 C T 4: 101,471,483 (GRCm39) probably null Het
Dpp6 G A 5: 27,674,409 (GRCm39) E179K probably benign Het
Fasn G A 11: 120,704,562 (GRCm39) T1341I possibly damaging Het
Fat1 C T 8: 45,404,620 (GRCm39) T457I probably benign Het
Filip1l A T 16: 57,392,096 (GRCm39) probably null Het
Gje1 A T 10: 14,592,413 (GRCm39) I123N probably damaging Het
Gli3 A G 13: 15,894,874 (GRCm39) T683A probably damaging Het
Gm29326 C A 7: 29,260,833 (GRCm39) noncoding transcript Het
Gm5460 A G 14: 33,765,909 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,200 (GRCm39) S739N probably benign Het
Ighv1-42 T A 12: 114,900,885 (GRCm39) I67F probably damaging Het
Iqgap1 A G 7: 80,402,041 (GRCm39) V408A probably benign Het
Kdm7a A T 6: 39,147,198 (GRCm39) W250R probably damaging Het
Kif5a A G 10: 127,078,565 (GRCm39) I360T possibly damaging Het
Maml1 T C 11: 50,148,992 (GRCm39) N916S probably benign Het
Mier2 A T 10: 79,384,184 (GRCm39) probably benign Het
Mpst A T 15: 78,294,474 (GRCm39) T69S probably benign Het
Nlk C A 11: 78,477,763 (GRCm39) V327F probably damaging Het
Nme5 A T 18: 34,711,730 (GRCm39) S4T probably benign Het
Notch2 A G 3: 98,045,711 (GRCm39) I1625M possibly damaging Het
Nup210l T C 3: 90,088,859 (GRCm39) probably null Het
Oas1d A G 5: 121,057,111 (GRCm39) E239G probably damaging Het
Olfm4 T C 14: 80,243,761 (GRCm39) S110P probably damaging Het
Or52e2 T C 7: 102,804,772 (GRCm39) M61V probably benign Het
Parn T A 16: 13,384,567 (GRCm39) I499F probably damaging Het
Ppargc1a G A 5: 51,653,068 (GRCm39) Q165* probably null Het
Ppp1r12b T A 1: 134,814,244 (GRCm39) E353V probably damaging Het
Prkdc A G 16: 15,603,842 (GRCm39) Q2952R possibly damaging Het
Prkdc G T 16: 15,603,843 (GRCm39) Q2952H probably benign Het
Qars1 G T 9: 108,392,185 (GRCm39) E143* probably null Het
Reln A G 5: 22,134,132 (GRCm39) Y2599H probably damaging Het
Rnf123 T C 9: 107,939,041 (GRCm39) E803G probably damaging Het
Rnf141 G A 7: 110,436,405 (GRCm39) Q8* probably null Het
Rnf167 A G 11: 70,540,952 (GRCm39) I193V probably benign Het
Rprd2 A T 3: 95,694,622 (GRCm39) M137K probably benign Het
Rtf1 T G 2: 119,559,226 (GRCm39) probably benign Het
Serpina1d T A 12: 103,731,055 (GRCm39) R308* probably null Het
Smg7 T C 1: 152,719,030 (GRCm39) Y899C probably benign Het
Tbr1 C A 2: 61,635,336 (GRCm39) H95Q possibly damaging Het
Tcf19 A T 17: 35,825,380 (GRCm39) probably null Het
Timm44 T A 8: 4,317,692 (GRCm39) R210W probably damaging Het
Trnau1ap C A 4: 132,041,331 (GRCm39) E194* probably null Het
Trp63 G A 16: 25,639,192 (GRCm39) G127S probably damaging Het
Trrap C T 5: 144,735,200 (GRCm39) A989V probably benign Het
Ttn T C 2: 76,600,326 (GRCm39) D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,229,952 (GRCm39) probably benign Het
Vmn1r77 G A 7: 11,775,223 (GRCm39) probably null Het
Vmn1r80 A G 7: 11,927,181 (GRCm39) Y97C probably benign Het
Vmn2r77 G A 7: 86,451,224 (GRCm39) C370Y probably damaging Het
Xntrpc C A 7: 101,733,492 (GRCm39) A147D probably damaging Het
Zc3h4 C T 7: 16,159,702 (GRCm39) S424F unknown Het
Zcwpw1 T A 5: 137,808,376 (GRCm39) S275T probably damaging Het
Zfp979 C T 4: 147,699,808 (GRCm39) C44Y probably damaging Het
Zscan20 T C 4: 128,479,587 (GRCm39) H968R probably damaging Het
Zswim3 T C 2: 164,662,297 (GRCm39) V259A probably damaging Het
Zzz3 T G 3: 152,133,696 (GRCm39) D251E possibly damaging Het
Other mutations in Cd180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Cd180 APN 13 102,841,917 (GRCm39) missense probably benign
IGL00949:Cd180 APN 13 102,830,268 (GRCm39) missense possibly damaging 0.89
IGL01864:Cd180 APN 13 102,842,541 (GRCm39) missense possibly damaging 0.93
IGL01901:Cd180 APN 13 102,842,936 (GRCm39) missense probably benign 0.04
IGL01934:Cd180 APN 13 102,839,366 (GRCm39) missense probably damaging 1.00
IGL01998:Cd180 APN 13 102,841,722 (GRCm39) missense probably damaging 0.99
IGL03031:Cd180 APN 13 102,841,535 (GRCm39) missense probably benign 0.00
IGL03139:Cd180 APN 13 102,842,924 (GRCm39) missense probably damaging 1.00
Volte_face UTSW 13 102,841,431 (GRCm39) missense probably damaging 0.99
H8562:Cd180 UTSW 13 102,841,926 (GRCm39) missense probably benign 0.02
R0004:Cd180 UTSW 13 102,839,216 (GRCm39) missense probably benign 0.00
R0393:Cd180 UTSW 13 102,842,408 (GRCm39) missense probably damaging 0.99
R0565:Cd180 UTSW 13 102,839,382 (GRCm39) intron probably benign
R1080:Cd180 UTSW 13 102,842,728 (GRCm39) nonsense probably null
R1223:Cd180 UTSW 13 102,842,730 (GRCm39) missense possibly damaging 0.49
R1669:Cd180 UTSW 13 102,841,998 (GRCm39) missense probably damaging 1.00
R1772:Cd180 UTSW 13 102,842,750 (GRCm39) missense probably benign 0.11
R1784:Cd180 UTSW 13 102,842,367 (GRCm39) missense probably damaging 1.00
R1865:Cd180 UTSW 13 102,842,517 (GRCm39) missense probably benign
R2252:Cd180 UTSW 13 102,842,906 (GRCm39) nonsense probably null
R2385:Cd180 UTSW 13 102,841,691 (GRCm39) missense probably benign 0.00
R4653:Cd180 UTSW 13 102,841,416 (GRCm39) missense probably damaging 1.00
R4695:Cd180 UTSW 13 102,842,268 (GRCm39) missense probably benign 0.01
R4790:Cd180 UTSW 13 102,839,330 (GRCm39) missense probably damaging 0.98
R4934:Cd180 UTSW 13 102,875,672 (GRCm39) critical splice acceptor site probably null
R5052:Cd180 UTSW 13 102,841,403 (GRCm39) missense probably benign
R5154:Cd180 UTSW 13 102,842,282 (GRCm39) missense probably damaging 1.00
R5469:Cd180 UTSW 13 102,841,342 (GRCm39) missense probably benign 0.37
R5493:Cd180 UTSW 13 102,842,649 (GRCm39) missense probably benign 0.07
R5615:Cd180 UTSW 13 102,842,711 (GRCm39) missense probably benign 0.34
R5905:Cd180 UTSW 13 102,842,541 (GRCm39) missense possibly damaging 0.93
R6282:Cd180 UTSW 13 102,830,265 (GRCm39) missense possibly damaging 0.90
R6433:Cd180 UTSW 13 102,842,141 (GRCm39) missense probably benign 0.00
R6456:Cd180 UTSW 13 102,839,344 (GRCm39) missense probably damaging 1.00
R6784:Cd180 UTSW 13 102,839,213 (GRCm39) missense probably damaging 0.97
R6815:Cd180 UTSW 13 102,841,937 (GRCm39) missense probably damaging 1.00
R6838:Cd180 UTSW 13 102,839,239 (GRCm39) missense probably benign 0.38
R6941:Cd180 UTSW 13 102,842,699 (GRCm39) missense probably benign 0.23
R7048:Cd180 UTSW 13 102,841,431 (GRCm39) missense probably damaging 0.99
R7338:Cd180 UTSW 13 102,842,936 (GRCm39) missense probably benign 0.04
R7466:Cd180 UTSW 13 102,841,503 (GRCm39) missense probably damaging 1.00
R7647:Cd180 UTSW 13 102,842,451 (GRCm39) missense probably damaging 1.00
R8179:Cd180 UTSW 13 102,842,141 (GRCm39) missense probably benign 0.00
R8252:Cd180 UTSW 13 102,842,504 (GRCm39) missense probably benign 0.00
R8300:Cd180 UTSW 13 102,841,301 (GRCm39) missense probably benign 0.01
R8460:Cd180 UTSW 13 102,839,354 (GRCm39) missense probably damaging 1.00
R9122:Cd180 UTSW 13 102,841,517 (GRCm39) missense probably damaging 0.97
R9227:Cd180 UTSW 13 102,841,514 (GRCm39) nonsense probably null
R9229:Cd180 UTSW 13 102,841,514 (GRCm39) nonsense probably null
R9230:Cd180 UTSW 13 102,841,514 (GRCm39) nonsense probably null
R9399:Cd180 UTSW 13 102,842,021 (GRCm39) missense probably benign 0.00
R9569:Cd180 UTSW 13 102,842,486 (GRCm39) missense possibly damaging 0.94
Z1176:Cd180 UTSW 13 102,842,274 (GRCm39) missense probably damaging 1.00
Z1177:Cd180 UTSW 13 102,842,540 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16