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)
|
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
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 |
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |