Incidental Mutation 'R0004:Cd180'
| ID |
32412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd180
|
| Ensembl Gene |
ENSMUSG00000021624 |
| Gene Name |
CD180 antigen |
| Synonyms |
Ly78, RP105 |
| MMRRC Submission |
038300-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0004 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
102830055-102843139 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 102839216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 33
(V33G)
|
| 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: V33G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: V33G
| 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
AA Change: V33G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624
AA Change: V33G
| 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
AA Change: V33G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129096
Gene: ENSMUSG00000021624
AA Change: V33G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (63/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
T |
C |
2: 120,982,966 (GRCm39) |
I86T |
probably damaging |
Het |
| Aff3 |
T |
C |
1: 38,308,807 (GRCm39) |
D376G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,752,380 (GRCm39) |
H164Q |
possibly damaging |
Het |
| Akap12 |
A |
T |
10: 4,303,220 (GRCm39) |
D10V |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,063,294 (GRCm39) |
V101A |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,364,828 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,309,566 (GRCm39) |
D387G |
possibly damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,409,964 (GRCm39) |
Q261L |
probably damaging |
Het |
| Cd207 |
G |
A |
6: 83,651,230 (GRCm39) |
Q242* |
probably null |
Het |
| Cnp |
T |
C |
11: 100,467,633 (GRCm39) |
F192S |
probably damaging |
Het |
| Colec10 |
G |
T |
15: 54,274,271 (GRCm39) |
R33L |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,819,390 (GRCm39) |
M16L |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,803,966 (GRCm39) |
M98L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,950,918 (GRCm39) |
I2902V |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,646,635 (GRCm39) |
|
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,701 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,384,835 (GRCm39) |
M860L |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,530,381 (GRCm39) |
T77A |
probably damaging |
Het |
| Fgfbp3 |
A |
G |
19: 36,896,082 (GRCm39) |
S179P |
possibly damaging |
Het |
| Foxp2 |
A |
G |
6: 15,197,095 (GRCm39) |
T45A |
possibly damaging |
Het |
| Gckr |
A |
T |
5: 31,454,933 (GRCm39) |
|
probably benign |
Het |
| Glce |
T |
A |
9: 61,975,861 (GRCm39) |
Q213L |
probably damaging |
Het |
| Gm1965 |
A |
C |
6: 89,123,469 (GRCm39) |
H84P |
unknown |
Het |
| Hbegf |
A |
G |
18: 36,640,559 (GRCm39) |
V166A |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,944,886 (GRCm39) |
H217N |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,418,257 (GRCm39) |
L392P |
probably damaging |
Het |
| Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,300,650 (GRCm39) |
S240P |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,802,944 (GRCm39) |
R42* |
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,377,694 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
A |
T |
6: 38,566,169 (GRCm39) |
K52M |
probably damaging |
Het |
| Mecom |
G |
A |
3: 30,034,060 (GRCm39) |
P215S |
probably damaging |
Het |
| Myo1g |
T |
A |
11: 6,465,901 (GRCm39) |
T395S |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,364,475 (GRCm39) |
M384K |
probably benign |
Het |
| Ndufb2 |
C |
T |
6: 39,573,438 (GRCm39) |
T51I |
possibly damaging |
Het |
| Nell1 |
C |
A |
7: 50,210,507 (GRCm39) |
|
probably benign |
Het |
| Or51k1 |
A |
T |
7: 103,661,638 (GRCm39) |
N90K |
probably benign |
Het |
| Oxr1 |
G |
A |
15: 41,683,936 (GRCm39) |
S434N |
possibly damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,290 (GRCm39) |
S423R |
probably benign |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,012 (GRCm39) |
D29E |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,200,408 (GRCm39) |
T1053A |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,702,384 (GRCm39) |
H1184L |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,904,288 (GRCm39) |
R263Q |
probably null |
Het |
| Prmt9 |
A |
G |
8: 78,282,411 (GRCm39) |
I103V |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,135 (GRCm39) |
T678A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,680,805 (GRCm39) |
Y3180C |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,657,094 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
| Sec23b |
T |
C |
2: 144,406,482 (GRCm39) |
|
probably benign |
Het |
| Sf1 |
C |
A |
19: 6,424,221 (GRCm39) |
P417Q |
probably damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,533,653 (GRCm39) |
|
probably benign |
Het |
| Stk32a |
T |
C |
18: 43,438,121 (GRCm39) |
W207R |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,393,132 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
T |
9: 42,256,774 (GRCm39) |
V1634E |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,914,184 (GRCm39) |
F2450S |
probably damaging |
Het |
| Tgfb1 |
T |
C |
7: 25,391,791 (GRCm39) |
|
probably benign |
Het |
| Tpgs2 |
A |
G |
18: 25,291,295 (GRCm39) |
|
probably benign |
Het |
| Washc5 |
A |
G |
15: 59,239,316 (GRCm39) |
M149T |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,807,588 (GRCm39) |
V290D |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,370,626 (GRCm39) |
T688A |
possibly damaging |
Het |
| Zfp560 |
C |
T |
9: 20,259,263 (GRCm39) |
C533Y |
probably damaging |
Het |
| Zfp791 |
G |
A |
8: 85,837,495 (GRCm39) |
A123V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTTTGTTCACCTAGACGCATACC -3'
(R):5'- GGGCACTCAAGGAACTGAAATACCTAC -3'
Sequencing Primer
(F):5'- acctcctgtttctctctccc -3'
(R):5'- CCTACCTGGTTAAATCCAGGAAGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation