Incidental Mutation 'IGL03031:Cd180'
| ID |
408433 |
| 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)
|
| Stock # |
IGL03031
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
102830055-102843139 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102841535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 194
(S194G)
|
| 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: S194G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: S194G
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170878
|
| SMART Domains |
Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,183 (GRCm39) |
D753G |
probably benign |
Het |
| Adat2 |
T |
C |
10: 13,432,590 (GRCm39) |
|
probably benign |
Het |
| Ahsa2 |
A |
G |
11: 23,440,426 (GRCm39) |
L275S |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,837,828 (GRCm39) |
D118N |
possibly damaging |
Het |
| Bicra |
A |
T |
7: 15,709,726 (GRCm39) |
H1097Q |
probably benign |
Het |
| C4b |
T |
C |
17: 34,950,104 (GRCm39) |
T1389A |
possibly damaging |
Het |
| Chgb |
C |
A |
2: 132,635,434 (GRCm39) |
Q459K |
probably benign |
Het |
| Clvs1 |
G |
T |
4: 9,449,385 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,492,923 (GRCm39) |
G186R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,553,975 (GRCm39) |
|
probably benign |
Het |
| Epsti1 |
G |
A |
14: 78,212,021 (GRCm39) |
R249K |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,952,025 (GRCm39) |
Y90* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,504,980 (GRCm39) |
R274G |
probably damaging |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Hectd4 |
C |
T |
5: 121,486,857 (GRCm39) |
T3284M |
possibly damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,892,522 (GRCm39) |
M245T |
probably damaging |
Het |
| Lpar6 |
T |
C |
14: 73,476,882 (GRCm39) |
V281A |
possibly damaging |
Het |
| Med18 |
G |
T |
4: 132,186,924 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,208,704 (GRCm39) |
V3A |
probably benign |
Het |
| Mpped2 |
G |
T |
2: 106,613,968 (GRCm39) |
|
probably benign |
Het |
| Ms4a10 |
A |
G |
19: 10,946,035 (GRCm39) |
V32A |
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,968,601 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,097,213 (GRCm39) |
Q422L |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,085,721 (GRCm39) |
Q819L |
possibly damaging |
Het |
| Ncoa1 |
G |
A |
12: 4,324,818 (GRCm39) |
T921I |
possibly damaging |
Het |
| Or10d4b |
A |
G |
9: 39,534,694 (GRCm39) |
I92V |
probably damaging |
Het |
| Or6c214 |
A |
G |
10: 129,591,238 (GRCm39) |
L27P |
possibly damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,361 (GRCm39) |
T81P |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,734 (GRCm39) |
S1742P |
probably benign |
Het |
| Plxdc2 |
G |
A |
2: 16,655,043 (GRCm39) |
|
probably null |
Het |
| Poc5 |
A |
G |
13: 96,538,123 (GRCm39) |
T263A |
probably benign |
Het |
| Prss41 |
T |
A |
17: 24,061,396 (GRCm39) |
I132F |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,195 (GRCm39) |
I329T |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,466,464 (GRCm39) |
|
probably null |
Het |
| Rnps1-ps |
T |
C |
6: 7,982,857 (GRCm39) |
|
noncoding transcript |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,411 (GRCm39) |
V882E |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,996,249 (GRCm39) |
E776G |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,449,638 (GRCm39) |
I207V |
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,817,664 (GRCm39) |
F123L |
probably benign |
Het |
| Spats2 |
A |
G |
15: 99,078,569 (GRCm39) |
T211A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,656,148 (GRCm39) |
M1K |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,225,585 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tecta |
A |
C |
9: 42,256,789 (GRCm39) |
M1629R |
probably benign |
Het |
| Ufsp2 |
T |
A |
8: 46,437,137 (GRCm39) |
I101N |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,368 (GRCm39) |
C892S |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,874,361 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,208,381 (GRCm39) |
V167E |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,862,608 (GRCm39) |
L588P |
probably damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,621,595 (GRCm39) |
T267A |
probably damaging |
Het |
|
| Other mutations in Cd180 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2016-08-02 |
Incidental Mutation