Incidental Mutation 'R5615:Cd180'
ID |
438211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd180
|
Ensembl Gene |
ENSMUSG00000021624 |
Gene Name |
CD180 antigen |
Synonyms |
Ly78, RP105 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5615 (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 T
at 102842711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 586
(I586F)
|
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: I586F
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000022124 Gene: ENSMUSG00000021624 AA Change: I586F
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: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,346,218 (GRCm39) |
L884H |
probably damaging |
Het |
Ahr |
A |
G |
12: 35,553,884 (GRCm39) |
V745A |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,431,295 (GRCm39) |
S830T |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,136,125 (GRCm39) |
T1123A |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,629,792 (GRCm39) |
|
probably null |
Het |
Bcas3 |
T |
A |
11: 85,361,587 (GRCm39) |
C250S |
probably damaging |
Het |
Bckdk |
T |
C |
7: 127,506,489 (GRCm39) |
I272T |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,287,916 (GRCm39) |
K1897E |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,367,012 (GRCm39) |
D1121G |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,320,372 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,199,351 (GRCm39) |
K912N |
probably damaging |
Het |
Dock4 |
G |
T |
12: 40,699,479 (GRCm39) |
R231L |
probably benign |
Het |
Ell |
G |
A |
8: 71,043,382 (GRCm39) |
S505N |
probably benign |
Het |
Ephb6 |
A |
G |
6: 41,596,225 (GRCm39) |
T833A |
probably benign |
Het |
Hemk1 |
T |
A |
9: 107,208,023 (GRCm39) |
|
probably null |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hspa12a |
T |
C |
19: 58,793,082 (GRCm39) |
I368V |
possibly damaging |
Het |
Igkv3-3 |
A |
T |
6: 70,664,214 (GRCm39) |
T19S |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,465,561 (GRCm39) |
A2158T |
possibly damaging |
Het |
Lancl2 |
T |
C |
6: 57,699,496 (GRCm39) |
Y104H |
probably damaging |
Het |
Leng8 |
G |
T |
7: 4,147,957 (GRCm39) |
E634* |
probably null |
Het |
Lrrk1 |
A |
T |
7: 65,937,363 (GRCm39) |
C930S |
probably damaging |
Het |
Lvrn |
C |
T |
18: 46,983,395 (GRCm39) |
S46L |
possibly damaging |
Het |
Mcidas |
G |
A |
13: 113,133,959 (GRCm39) |
V148I |
probably benign |
Het |
Mprip |
A |
T |
11: 59,649,313 (GRCm39) |
T1006S |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,293,234 (GRCm39) |
M106L |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mtor |
G |
A |
4: 148,622,733 (GRCm39) |
V1938I |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,277,446 (GRCm39) |
D46G |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or10ag52 |
T |
A |
2: 87,044,083 (GRCm39) |
F282L |
probably benign |
Het |
Or6c215 |
A |
T |
10: 129,637,636 (GRCm39) |
C253S |
probably damaging |
Het |
Osbp2 |
C |
T |
11: 3,813,356 (GRCm39) |
G171D |
probably benign |
Het |
Otud6b |
A |
T |
4: 14,818,187 (GRCm39) |
M238K |
possibly damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,279,476 (GRCm39) |
G819R |
probably benign |
Het |
Pcdhac2 |
G |
T |
18: 37,279,477 (GRCm39) |
G819V |
probably benign |
Het |
Pcdhga12 |
T |
G |
18: 37,901,132 (GRCm39) |
S655A |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,356,842 (GRCm39) |
I756V |
probably benign |
Het |
Plekhd1 |
T |
A |
12: 80,767,364 (GRCm39) |
S251T |
probably damaging |
Het |
Ppp2r1a |
A |
T |
17: 21,179,249 (GRCm39) |
T96S |
probably benign |
Het |
Qser1 |
A |
C |
2: 104,620,039 (GRCm39) |
S258A |
possibly damaging |
Het |
Rsph4a |
G |
A |
10: 33,785,324 (GRCm39) |
A412T |
probably benign |
Het |
Sanbr |
A |
T |
11: 23,556,759 (GRCm39) |
L407H |
probably damaging |
Het |
Sass6 |
T |
A |
3: 116,401,135 (GRCm39) |
C159S |
probably benign |
Het |
Scaf4 |
T |
C |
16: 90,048,848 (GRCm39) |
Q322R |
unknown |
Het |
Sema6d |
C |
T |
2: 124,498,821 (GRCm39) |
H244Y |
probably damaging |
Het |
Sigirr |
T |
G |
7: 140,672,632 (GRCm39) |
L163F |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,183,078 (GRCm39) |
L207I |
possibly damaging |
Het |
Tacstd2 |
A |
G |
6: 67,512,033 (GRCm39) |
F220L |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tnxb |
C |
A |
17: 34,902,392 (GRCm39) |
Q1082K |
probably damaging |
Het |
Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,807,297 (GRCm39) |
R1014C |
probably damaging |
Het |
Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
T |
A |
7: 41,916,677 (GRCm39) |
M430K |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,917 (GRCm39) |
E779G |
probably damaging |
Het |
Zfp599 |
T |
C |
9: 22,165,165 (GRCm39) |
D70G |
probably benign |
Het |
Zmym1 |
A |
T |
4: 126,943,191 (GRCm39) |
I301N |
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 |
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 |
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'- ACAGGCTGACATCCAGTAGC -3'
(R):5'- CTGCCTTCTCTGGAAATCTTGAG -3'
Sequencing Primer
(F):5'- ATCCAGTAGCATTGAGGCTC -3'
(R):5'- CTCTGGAAATCTTGAGCTAAATGTG -3'
|
Posted On |
2016-10-26 |