Mutagenetix > Incidental Mutation

Incidental Mutation 'R2385:Cd180'

247685

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) question?

Stock #

R2385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102830055-102843139 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102841691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 246 (T246A)

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: T246A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: T246A

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	C	15: 41,732,749 (GRCm39)	T106A	probably damaging	Het
Adgra3	A	T	5: 50,136,908 (GRCm39)	I595N	possibly damaging	Het
Aox3	A	G	1: 58,177,448 (GRCm39)	E221G	probably damaging	Het
Arpc1a	T	A	5: 145,041,333 (GRCm39)		probably null	Het
Cep250	A	G	2: 155,816,261 (GRCm39)	E672G	probably damaging	Het
Cyp2d12	A	T	15: 82,442,696 (GRCm39)	I380F	probably benign	Het
Dock3	A	T	9: 106,868,324 (GRCm39)	D653E	probably damaging	Het
Fbxw22	A	G	9: 109,211,210 (GRCm39)	S364P	probably damaging	Het
Ift122	T	C	6: 115,889,483 (GRCm39)	Y823H	probably benign	Het
Kif20b	T	C	19: 34,936,819 (GRCm39)	S1365P	probably damaging	Het
Nol11	C	T	11: 107,080,032 (GRCm39)	G18R	probably benign	Het
Or8k3	A	T	2: 86,058,817 (GRCm39)	L166*	probably null	Het
Pde8a	T	G	7: 80,932,740 (GRCm39)	M134R	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Polr3gl	A	G	3: 96,485,862 (GRCm39)	F135L	probably damaging	Het
Sdr16c6	T	A	4: 4,062,671 (GRCm39)	I216F	probably damaging	Het
Slc23a2	T	C	2: 131,931,121 (GRCm39)	D126G	probably benign	Het
Snx13	A	T	12: 35,169,792 (GRCm39)	Y579F	probably benign	Het
Vcan	T	C	13: 89,837,568 (GRCm39)	T1699A	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
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'- AGCTGAAGGTCCTGGATTTTCAG -3'
(R):5'- GCTGTTAGGTCCAGTTCCTG -3'

Sequencing Primer
(F):5'- GGTCCTGGATTTTCAGAATAATGC -3'
(R):5'- AGTTCCTGGAGGCCACTGAAG -3'

Posted On

2014-11-11