Incidental Mutation 'IGL01998:Cd180'
ID |
182946 |
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 # |
IGL01998
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
102830055-102843139 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102841722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 256
(E256G)
|
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: E256G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022124 Gene: ENSMUSG00000021624 AA Change: E256G
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arpc3 |
T |
C |
5: 122,541,470 (GRCm39) |
C78R |
probably damaging |
Het |
Atp6v0b |
A |
G |
4: 117,743,263 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
A |
G |
7: 25,328,203 (GRCm39) |
Y211C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,886,880 (GRCm39) |
I736T |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,011,165 (GRCm39) |
S1788P |
possibly damaging |
Het |
Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
C3ar1 |
A |
T |
6: 122,827,899 (GRCm39) |
M106K |
probably damaging |
Het |
C9orf72 |
A |
T |
4: 35,194,179 (GRCm39) |
D205E |
probably benign |
Het |
Cab39l |
T |
A |
14: 59,734,344 (GRCm39) |
L21Q |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,303,043 (GRCm39) |
I166F |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,887 (GRCm39) |
T519A |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,435,622 (GRCm39) |
L233Q |
probably damaging |
Het |
Crlf3 |
G |
A |
11: 79,948,845 (GRCm39) |
|
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,102,495 (GRCm39) |
|
probably benign |
Het |
Drc7 |
T |
A |
8: 95,785,821 (GRCm39) |
C226S |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,232,593 (GRCm39) |
D807V |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,187,021 (GRCm39) |
L1275P |
probably benign |
Het |
Fv1 |
T |
C |
4: 147,953,784 (GRCm39) |
C117R |
possibly damaging |
Het |
Ighg2b |
C |
A |
12: 113,270,709 (GRCm39) |
M140I |
unknown |
Het |
Klra5 |
A |
T |
6: 129,883,676 (GRCm39) |
Y60* |
probably null |
Het |
Lmtk2 |
C |
T |
5: 144,112,883 (GRCm39) |
T1201I |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
Ncapd2 |
A |
T |
6: 125,146,896 (GRCm39) |
L1230H |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,353 (GRCm39) |
I708N |
probably damaging |
Het |
Notch2 |
A |
T |
3: 98,050,422 (GRCm39) |
D1899V |
probably damaging |
Het |
Npepl1 |
T |
A |
2: 173,957,993 (GRCm39) |
|
probably benign |
Het |
Nps |
T |
A |
7: 134,870,481 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,408,162 (GRCm39) |
S24G |
probably damaging |
Het |
Or1j20 |
A |
G |
2: 36,759,658 (GRCm39) |
N27D |
probably benign |
Het |
Or2ag16 |
G |
A |
7: 106,351,758 (GRCm39) |
T279M |
possibly damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,403 (GRCm39) |
Y136* |
probably null |
Het |
Or4k2 |
C |
A |
14: 50,424,105 (GRCm39) |
V190L |
probably benign |
Het |
Pigx |
G |
T |
16: 31,903,428 (GRCm39) |
T211K |
probably benign |
Het |
Pink1 |
A |
G |
4: 138,048,053 (GRCm39) |
I223T |
probably damaging |
Het |
Plat |
G |
A |
8: 23,257,163 (GRCm39) |
A15T |
probably benign |
Het |
Ptges2 |
G |
A |
2: 32,291,542 (GRCm39) |
A310T |
possibly damaging |
Het |
Rsl1d1 |
A |
G |
16: 11,012,509 (GRCm39) |
S306P |
possibly damaging |
Het |
Rxfp1 |
T |
C |
3: 79,567,403 (GRCm39) |
K316E |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,438,742 (GRCm39) |
I1708T |
probably damaging |
Het |
Sdk2 |
A |
T |
11: 113,729,358 (GRCm39) |
F1073Y |
probably damaging |
Het |
Sp100 |
A |
G |
1: 85,594,650 (GRCm39) |
D170G |
probably benign |
Het |
Spock1 |
A |
T |
13: 57,583,994 (GRCm39) |
|
probably benign |
Het |
Strbp |
A |
G |
2: 37,515,297 (GRCm39) |
L243P |
probably damaging |
Het |
Tex55 |
A |
T |
16: 38,648,586 (GRCm39) |
D174E |
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,882,920 (GRCm39) |
T446S |
probably damaging |
Het |
Tmem59l |
C |
T |
8: 70,937,431 (GRCm39) |
V239I |
probably benign |
Het |
Trav8-1 |
A |
T |
14: 53,707,662 (GRCm39) |
T101S |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,594,350 (GRCm39) |
D27G |
probably damaging |
Het |
Vmn2r54 |
T |
C |
7: 12,349,227 (GRCm39) |
E785G |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,862,350 (GRCm39) |
|
probably null |
Het |
Wwp2 |
C |
T |
8: 108,276,153 (GRCm39) |
R64C |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,024,890 (GRCm39) |
H1460R |
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 |
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 |
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 |
2014-05-07 |