Incidental Mutation 'R5615:Cd180'
ID 438211
Institutional Source Beutler Lab
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 # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 102830055-102843139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102842711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 586 (I586F)
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 benign
Transcript: ENSMUST00000022124
AA Change: I586F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: I586F

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
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N probably 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
IGL02336:Cd180 APN 13 102,841,821 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ACAGGCTGACATCCAGTAGC -3'
(R):5'- CTGCCTTCTCTGGAAATCTTGAG -3'

Sequencing Primer
(F):5'- ATCCAGTAGCATTGAGGCTC -3'
(R):5'- CTCTGGAAATCTTGAGCTAAATGTG -3'
Posted On 2016-10-26