Incidental Mutation 'R4695:Cd180'
ID 355652
Institutional Source Beutler Lab
Gene Symbol Cd180
Ensembl Gene ENSMUSG00000021624
Gene Name CD180 antigen
Synonyms Ly78, RP105
MMRRC Submission 042016-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4695 (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 C at 102842268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 438 (Q438P)
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: Q438P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: Q438P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,750,713 (GRCm39) M251K possibly damaging Het
Adcy2 A T 13: 68,875,962 (GRCm39) H513Q possibly damaging Het
Afg2a T G 3: 37,512,474 (GRCm39) F713C probably damaging Het
Ahctf1 A G 1: 179,580,619 (GRCm39) L1861P possibly damaging Het
Apc2 C A 10: 80,146,877 (GRCm39) R615S probably damaging Het
Arhgap45 A C 10: 79,861,364 (GRCm39) D509A probably damaging Het
Atp6v1c2 T C 12: 17,351,208 (GRCm39) T108A probably benign Het
Blm T A 7: 80,143,976 (GRCm39) D821V probably damaging Het
C3 T A 17: 57,528,057 (GRCm39) I721L probably benign Het
Ccdc13 A T 9: 121,649,826 (GRCm39) V207E probably damaging Het
Ccndbp1 C T 2: 120,845,208 (GRCm39) probably benign Het
Cd248 C T 19: 5,118,473 (GRCm39) T107M probably damaging Het
Cdan1 G A 2: 120,558,864 (GRCm39) R445C probably damaging Het
Cic C A 7: 24,973,013 (GRCm39) H915N possibly damaging Het
Cox8c T C 12: 102,865,742 (GRCm39) S40P possibly damaging Het
Cyp2d34 A T 15: 82,501,092 (GRCm39) C347S probably benign Het
Dhx30 A T 9: 109,914,356 (GRCm39) F974I probably damaging Het
Dlec1 A T 9: 118,972,221 (GRCm39) T1414S probably benign Het
Dlg2 C A 7: 92,087,170 (GRCm39) probably null Het
Dynlt5 T A 4: 102,861,426 (GRCm39) I136K probably damaging Het
Dzip1l T A 9: 99,529,258 (GRCm39) M329K probably benign Het
Dzip3 A T 16: 48,771,924 (GRCm39) L582I probably damaging Het
Emilin2 T C 17: 71,559,773 (GRCm39) Y1068C probably damaging Het
Fam221b T A 4: 43,659,622 (GRCm39) probably null Het
Fbxw22 A G 9: 109,207,939 (GRCm39) I444T probably damaging Het
Flnc T A 6: 29,440,428 (GRCm39) N245K probably damaging Het
Fnip1 T A 11: 54,390,245 (GRCm39) I380N probably damaging Het
Gbf1 C T 19: 46,247,606 (GRCm39) R181* probably null Het
Igkv6-17 T A 6: 70,348,486 (GRCm39) F12I probably benign Het
Itln1 C A 1: 171,358,645 (GRCm39) G174V probably damaging Het
Lrrc52 A G 1: 167,293,660 (GRCm39) probably null Het
LTO1 T C 7: 144,482,715 (GRCm39) probably null Het
Matn2 A G 15: 34,403,071 (GRCm39) Y432C probably damaging Het
Metap1d A G 2: 71,355,305 (GRCm39) *336W probably null Het
Mgam2-ps T A 6: 40,779,489 (GRCm39) noncoding transcript Het
Mrps9 T A 1: 42,901,675 (GRCm39) V61D possibly damaging Het
Myh7b T C 2: 155,456,097 (GRCm39) Y161H probably damaging Het
Myh9 T A 15: 77,653,053 (GRCm39) D1428V probably damaging Het
N4bp3 A T 11: 51,535,306 (GRCm39) probably null Het
Nat9 T A 11: 115,075,416 (GRCm39) Q75L probably benign Het
Nop2 T C 6: 125,121,519 (GRCm39) V767A probably benign Het
Ntrk2 A G 13: 59,274,307 (GRCm39) K728E probably damaging Het
Or51e1 T G 7: 102,358,764 (GRCm39) C99W probably damaging Het
Or5p72 G A 7: 108,022,196 (GRCm39) M139I probably benign Het
Or7g21 T A 9: 19,032,306 (GRCm39) H15Q probably null Het
Pcdhgb2 A G 18: 37,825,375 (GRCm39) T789A probably benign Het
Pcyt2 T C 11: 120,502,000 (GRCm39) D321G probably benign Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rbbp8 A T 18: 11,854,839 (GRCm39) K355* probably null Het
Rhag T C 17: 41,147,358 (GRCm39) Y407H probably damaging Het
Robo4 G A 9: 37,314,495 (GRCm39) V161M probably damaging Het
Rpl27-ps3 C A 18: 6,332,922 (GRCm39) N97K probably benign Het
Slc45a4 A G 15: 73,453,924 (GRCm39) I691T possibly damaging Het
Slc9a9 A T 9: 94,818,502 (GRCm39) probably benign Het
Stard13 A G 5: 150,984,280 (GRCm39) F619L probably benign Het
Stt3b A T 9: 115,083,862 (GRCm39) V438E probably damaging Het
Tacr3 C T 3: 134,535,182 (GRCm39) T50I probably benign Het
Tacr3 G T 3: 134,635,690 (GRCm39) C298F probably damaging Het
Taok3 C T 5: 117,366,131 (GRCm39) T394M probably benign Het
Tgfb1i1 A G 7: 127,848,348 (GRCm39) D128G probably damaging Het
Tgfbr3l G T 8: 4,300,574 (GRCm39) V251L probably benign Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Top3a A G 11: 60,633,238 (GRCm39) S953P probably benign Het
Trappc10 T C 10: 78,033,697 (GRCm39) K957E probably damaging Het
Ttn T A 2: 76,565,668 (GRCm39) E28228V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vdr A T 15: 97,756,801 (GRCm39) probably null Het
Zfp42 A T 8: 43,749,168 (GRCm39) L111Q 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
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
Predicted Primers PCR Primer
(F):5'- CGGTACTGGCTGTTTAGAAAACC -3'
(R):5'- TCCCAGTGTCTGAAGTGAGTTG -3'

Sequencing Primer
(F):5'- TGACCTCAGCCATGATGACATTG -3'
(R):5'- AGTGAGTTGGTCTTTTGAATATTCCC -3'
Posted On 2015-10-21