Incidental Mutation 'R7338:Cd180'
| ID |
569663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd180
|
| Ensembl Gene |
ENSMUSG00000021624 |
| Gene Name |
CD180 antigen |
| Synonyms |
Ly78, RP105 |
| MMRRC Submission |
045428-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7338 (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 C
at 102842936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 661
(I661L)
|
| 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: I661L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: I661L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,106 (GRCm39) |
R166G |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,901,550 (GRCm39) |
E384V |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,420,005 (GRCm39) |
N1137S |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,609,768 (GRCm39) |
L170S |
probably benign |
Het |
| Card6 |
C |
T |
15: 5,129,354 (GRCm39) |
E681K |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,447,243 (GRCm39) |
V248I |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,825,477 (GRCm39) |
H62Q |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,732,008 (GRCm39) |
R473G |
unknown |
Het |
| Cep126 |
T |
C |
9: 8,099,799 (GRCm39) |
T912A |
possibly damaging |
Het |
| Chek2 |
T |
A |
5: 111,021,380 (GRCm39) |
V530E |
probably benign |
Het |
| Chga |
G |
T |
12: 102,529,100 (GRCm39) |
S359I |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,004,657 (GRCm39) |
V69A |
probably damaging |
Het |
| Cyp2a5 |
A |
T |
7: 26,542,372 (GRCm39) |
Q458L |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,524 (GRCm39) |
T391S |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,199,036 (GRCm39) |
L794P |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,585,802 (GRCm39) |
T580A |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,464,982 (GRCm39) |
I184L |
probably benign |
Het |
| Gabra1 |
C |
T |
11: 42,073,121 (GRCm39) |
G51S |
unknown |
Het |
| Gabrr3 |
C |
A |
16: 59,268,439 (GRCm39) |
L351I |
possibly damaging |
Het |
| Gbp7 |
A |
T |
3: 142,243,786 (GRCm39) |
N111I |
probably damaging |
Het |
| Gjd2 |
C |
T |
2: 113,841,583 (GRCm39) |
R298H |
probably damaging |
Het |
| Gm5930 |
T |
C |
14: 44,573,914 (GRCm39) |
Y141C |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,771,238 (GRCm39) |
N511K |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,707,903 (GRCm39) |
D122G |
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,703 (GRCm39) |
T152I |
possibly damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,510,305 (GRCm39) |
|
probably null |
Het |
| Med21 |
T |
A |
6: 146,544,082 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,634,952 (GRCm39) |
T523S |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,605,073 (GRCm39) |
T1000I |
probably benign |
Het |
| Nherf2 |
T |
A |
17: 24,869,182 (GRCm39) |
|
probably benign |
Het |
| Nin |
T |
C |
12: 70,090,838 (GRCm39) |
D859G |
|
Het |
| Nip7 |
T |
G |
8: 107,783,916 (GRCm39) |
L52R |
possibly damaging |
Het |
| Or10d1c |
A |
G |
9: 38,893,816 (GRCm39) |
Y175H |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,726 (GRCm39) |
F94I |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,446 (GRCm39) |
V79E |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,457,547 (GRCm39) |
Y435* |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,264,381 (GRCm39) |
S174P |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,837,287 (GRCm39) |
R537Q |
probably benign |
Het |
| Podxl |
G |
A |
6: 31,505,941 (GRCm39) |
S34F |
unknown |
Het |
| Prr36 |
G |
A |
8: 4,266,212 (GRCm39) |
R113C |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,890,525 (GRCm39) |
I436V |
probably benign |
Het |
| Slc13a5 |
C |
T |
11: 72,157,310 (GRCm39) |
V28I |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,349,097 (GRCm39) |
D56V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,885,858 (GRCm39) |
R2317W |
probably damaging |
Het |
| Stom |
T |
A |
2: 35,213,760 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
C |
2: 164,174,728 (GRCm39) |
L8P |
possibly damaging |
Het |
| Tmem141 |
C |
A |
2: 25,511,626 (GRCm39) |
V39F |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,344,019 (GRCm39) |
L181P |
probably damaging |
Het |
| Tnni3 |
A |
G |
7: 4,524,379 (GRCm39) |
S40P |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,024,465 (GRCm39) |
I548V |
probably benign |
Het |
| Twf2 |
A |
G |
9: 106,081,138 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
C |
A |
6: 119,425,092 (GRCm39) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Yipf4 |
T |
G |
17: 74,796,771 (GRCm39) |
S21A |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,481,943 (GRCm39) |
M573T |
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 |
|
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 |
|
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'- GACACTCTTTGCGAAAATCCC -3'
(R):5'- CAGATGGGTAGAGCTGACTGTG -3'
Sequencing Primer
(F):5'- GAAAATCCCCCATTGCTGAGGG -3'
(R):5'- GTGTCTCACAGCCATGTCTGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation