Incidental Mutation 'R6784:Cd180'
| ID |
531574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd180
|
| Ensembl Gene |
ENSMUSG00000021624 |
| Gene Name |
CD180 antigen |
| Synonyms |
Ly78, RP105 |
| MMRRC Submission |
044898-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6784 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
102830055-102843139 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102839213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 32
(E32G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022124]
[ENSMUST00000167144]
[ENSMUST00000170878]
[ENSMUST00000171267]
[ENSMUST00000172138]
|
| AlphaFold |
Q62192 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022124
AA Change: E32G
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: E32G
| 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 damaging
Transcript: ENSMUST00000170878
AA Change: E32G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624
AA Change: E32G
| 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 |
possibly damaging
Transcript: ENSMUST00000171267
AA Change: E32G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129096
Gene: ENSMUSG00000021624
AA Change: E32G
| 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
|
| Meta Mutation Damage Score |
0.1260 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.2%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
T |
6: 23,093,895 (GRCm39) |
S142N |
probably null |
Het |
| Aida |
A |
G |
1: 183,103,346 (GRCm39) |
Y275C |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,398,594 (GRCm39) |
I74T |
probably benign |
Het |
| C1ql4 |
A |
G |
15: 98,985,290 (GRCm39) |
V107A |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,360,884 (GRCm39) |
V284A |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,808,174 (GRCm39) |
D1680G |
probably damaging |
Het |
| Cog7 |
A |
T |
7: 121,563,516 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,741 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,319,084 (GRCm39) |
V116E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,854,890 (GRCm39) |
K1932E |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,780,926 (GRCm39) |
S2086P |
probably damaging |
Het |
| Espl1 |
C |
G |
15: 102,207,660 (GRCm39) |
R375G |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,443,275 (GRCm39) |
S526L |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gigyf2 |
G |
T |
1: 87,371,396 (GRCm39) |
V1170L |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,009,133 (GRCm39) |
T41K |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,990,086 (GRCm39) |
|
probably null |
Het |
| H2bc4 |
T |
C |
13: 23,868,483 (GRCm39) |
I90T |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,322 (GRCm39) |
|
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Klra1 |
T |
C |
6: 130,349,817 (GRCm39) |
D207G |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,680,240 (GRCm39) |
N57D |
probably benign |
Het |
| Map2k4 |
T |
C |
11: 65,582,577 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
G |
T |
15: 80,096,401 (GRCm39) |
Q409H |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,892,974 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,105,396 (GRCm39) |
L1062Q |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,439,725 (GRCm39) |
K183* |
probably null |
Het |
| Npat |
G |
C |
9: 53,469,458 (GRCm39) |
D315H |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,912,766 (GRCm39) |
V63A |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,379,846 (GRCm39) |
E129D |
probably damaging |
Het |
| Or10ag2 |
C |
T |
2: 87,248,796 (GRCm39) |
R135C |
probably benign |
Het |
| Or1e29 |
T |
G |
11: 73,667,676 (GRCm39) |
H159P |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,722 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,989 (GRCm39) |
D296V |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,407,764 (GRCm39) |
Y1153C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,698 (GRCm39) |
D105E |
probably benign |
Het |
| Pwwp4c |
C |
T |
X: 73,684,021 (GRCm39) |
R355H |
probably damaging |
Homo |
| Rbm27 |
T |
C |
18: 42,434,929 (GRCm39) |
M331T |
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,505,710 (GRCm39) |
Y295H |
probably damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Sla2 |
C |
T |
2: 156,725,589 (GRCm39) |
S3N |
unknown |
Het |
| Slc10a6 |
A |
G |
5: 103,776,896 (GRCm39) |
I68T |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,460 (GRCm39) |
F493S |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,263,845 (GRCm39) |
Y847N |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,805,015 (GRCm39) |
|
probably null |
Het |
| Vps8 |
C |
A |
16: 21,381,957 (GRCm39) |
Q1130K |
probably benign |
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 |
|
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 |
|
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'- CCAGTCCTTGGCTAATGAAGTG -3'
(R):5'- CAAGGAACTGAAATACCTACCTGG -3'
Sequencing Primer
(F):5'- CAGAGTTCTCTGATGGACCAC -3'
(R):5'- TGGTTAAATCCAGGAAGGTGAGATTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation