Incidental Mutation 'R6815:Cd180'
| ID |
537298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd180
|
| Ensembl Gene |
ENSMUSG00000021624 |
| Gene Name |
CD180 antigen |
| Synonyms |
Ly78, RP105 |
| MMRRC Submission |
044927-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
102830055-102843139 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102841937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 328
(L328F)
|
| 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: L328F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: L328F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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 |
|---|
| 4931414P19Rik |
T |
G |
14: 54,828,610 (GRCm39) |
N297T |
probably damaging |
Het |
| 6820408C15Rik |
A |
G |
2: 152,282,975 (GRCm39) |
N251S |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,152,380 (GRCm39) |
T1389A |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,958,526 (GRCm39) |
T265A |
probably benign |
Het |
| Ace3 |
C |
T |
11: 105,888,084 (GRCm39) |
Q302* |
probably null |
Het |
| Aip |
A |
T |
19: 4,166,066 (GRCm39) |
H128Q |
probably benign |
Het |
| Akr1b7 |
A |
T |
6: 34,389,269 (GRCm39) |
|
probably null |
Het |
| Arid4a |
T |
A |
12: 71,063,856 (GRCm39) |
|
probably null |
Het |
| Armh1 |
T |
A |
4: 117,087,134 (GRCm39) |
H177L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,407,880 (GRCm39) |
T2256A |
probably benign |
Het |
| Bco1 |
A |
T |
8: 117,840,261 (GRCm39) |
M260L |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,395,024 (GRCm39) |
N305S |
probably benign |
Het |
| Ccdc158 |
T |
A |
5: 92,760,345 (GRCm39) |
Y1035F |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,039,503 (GRCm39) |
L1121P |
probably damaging |
Het |
| Cyp2u1 |
A |
C |
3: 131,091,659 (GRCm39) |
I287S |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,570,950 (GRCm39) |
M2195I |
probably benign |
Het |
| Dnajc21 |
C |
T |
15: 10,447,777 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
T |
1: 80,516,576 (GRCm39) |
V1398M |
possibly damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,449,272 (GRCm39) |
I44F |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,941,299 (GRCm39) |
I139T |
probably damaging |
Het |
| Gpr4 |
T |
A |
7: 18,956,560 (GRCm39) |
F161I |
probably damaging |
Het |
| Gucy2e |
A |
C |
11: 69,122,827 (GRCm39) |
L516R |
possibly damaging |
Het |
| Hdhd5 |
A |
G |
6: 120,498,170 (GRCm39) |
V143A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,026,501 (GRCm39) |
Q252L |
probably damaging |
Het |
| Heatr5a |
T |
G |
12: 52,002,291 (GRCm39) |
D215A |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,795,777 (GRCm39) |
A164D |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,243 (GRCm39) |
I46V |
probably benign |
Het |
| Iqgap1 |
C |
T |
7: 80,416,632 (GRCm39) |
|
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,602,010 (GRCm39) |
L281P |
probably damaging |
Het |
| Or10p22 |
A |
G |
10: 128,826,191 (GRCm39) |
S137G |
probably benign |
Het |
| Or7g32 |
G |
T |
9: 19,389,061 (GRCm39) |
H159N |
probably benign |
Het |
| Pcdha7 |
A |
G |
18: 37,108,174 (GRCm39) |
T400A |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,618,573 (GRCm39) |
T629A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,426,051 (GRCm39) |
D3204G |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,577,718 (GRCm39) |
F57S |
probably benign |
Het |
| Prr15l |
T |
C |
11: 96,825,433 (GRCm39) |
V21A |
probably damaging |
Het |
| Rag2 |
T |
A |
2: 101,460,900 (GRCm39) |
N403K |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
A |
12: 109,560,937 (GRCm39) |
D301Y |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,770,051 (GRCm39) |
N215S |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,024,824 (GRCm39) |
D1061E |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,574,324 (GRCm39) |
|
probably null |
Het |
| Stox2 |
A |
T |
8: 47,646,136 (GRCm39) |
D441E |
probably damaging |
Het |
| Tmem52b |
G |
A |
6: 129,493,705 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,292 (GRCm39) |
E62G |
probably benign |
Het |
| Trim54 |
G |
T |
5: 31,291,424 (GRCm39) |
V182L |
probably damaging |
Het |
| Trmt6 |
A |
C |
2: 132,651,778 (GRCm39) |
V214G |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,057,134 (GRCm39) |
S613G |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,718,508 (GRCm39) |
R120S |
possibly damaging |
Het |
| Wdr41 |
A |
T |
13: 95,154,682 (GRCm39) |
K354N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,640,230 (GRCm39) |
K52* |
probably null |
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 |
|
R6784:Cd180
|
UTSW |
13 |
102,839,213 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CTGTGAAATGTCTGTGGAGAGC -3'
(R):5'- GCTCAAGTTCAGGCTCTGTAAG -3'
Sequencing Primer
(F):5'- TGTCTGTGGAGAGCATCAACCTAC -3'
(R):5'- TCAAGTTCAGGCTCTGTAAGTGAGAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation