Mutagenetix > Incidental Mutations

Incidental Mutation 'R0565:Cd180'

46150

Institutional Source

Beutler Lab

Gene Symbol

Cd180

Ensembl Gene

ENSMUSG00000021624

Gene Name

CD180 antigen

Synonyms

Ly78, RP105

MMRRC Submission

038756-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102693558-102739629 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 102702874 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022124] [ENSMUST00000167144] [ENSMUST00000170878] [ENSMUST00000171267] [ENSMUST00000172138]

Predicted Effect

probably benign
Transcript: ENSMUST00000022124

SMART Domains

Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624

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: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,864,336	H1010L	probably benign	Het
A2ml1	C	A	6: 128,568,743	E474*	probably null	Het
Agtr1b	T	C	3: 20,315,674	H256R	probably damaging	Het
Amacr	C	T	15: 10,981,946	A46V	possibly damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Caskin2	T	C	11: 115,801,016	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,461,042		probably benign	Het
Cemip	G	A	7: 83,964,110	H627Y	probably damaging	Het
Cep131	G	T	11: 120,073,762	H289Q	probably damaging	Het
Cep350	G	A	1: 155,961,195		probably benign	Het
Cfap52	A	T	11: 67,949,599	C169S	probably benign	Het
Cps1	A	T	1: 67,166,449	T544S	possibly damaging	Het
Cul7	T	C	17: 46,652,003	S187P	probably damaging	Het
Dhx40	C	A	11: 86,771,167	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,306,917	Q174K	probably benign	Het
Efna5	T	C	17: 62,881,036	Y32C	probably damaging	Het
Ethe1	A	G	7: 24,607,889	H176R	probably benign	Het
Exoc3	A	G	13: 74,182,275		probably null	Het
Fam135b	T	A	15: 71,490,837	N232Y	possibly damaging	Het
Fam214b	A	T	4: 43,034,647		probably benign	Het
Fndc9	C	T	11: 46,238,157	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,624,021	A286V	probably damaging	Het
Gm609	T	A	16: 45,444,173		probably benign	Het
Immt	T	A	6: 71,846,483		probably benign	Het
Ipo7	T	C	7: 110,049,593		probably benign	Het
Ipo8	A	T	6: 148,786,723	L747H	probably damaging	Het
Ireb2	A	T	9: 54,899,983	N610Y	probably damaging	Het
Irs2	A	G	8: 11,004,592	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,595,264	M458K	probably benign	Het
Kl	A	G	5: 150,980,944	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,684,286		probably benign	Het
Lamb1	A	C	12: 31,298,915	I649L	probably benign	Het
Lipm	A	C	19: 34,116,506	L274F	probably benign	Het
Lrfn3	A	G	7: 30,360,791	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,607,028	D223A	probably damaging	Het
Ltn1	C	A	16: 87,416,010	K554N	probably benign	Het
Mertk	T	C	2: 128,771,483	I473T	probably benign	Het
Mfsd12	C	A	10: 81,361,409	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705	D89G	probably damaging	Het
Myo5a	T	A	9: 75,180,112	N1083K	probably benign	Het
Ncapd3	C	T	9: 27,087,998	A1290V	probably benign	Het
Nefm	A	G	14: 68,124,621	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,897,625	R220H	probably damaging	Het
Olfr1189	T	A	2: 88,592,009	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,759,444	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,320,767	S67P	possibly damaging	Het
Per3	A	T	4: 151,033,952	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,980,117		probably benign	Het
Ppp1r15b	G	T	1: 133,136,653		probably benign	Het
Psmd2	G	T	16: 20,660,426	L678F	probably null	Het
Ptch2	A	G	4: 117,106,143		probably benign	Het
Ranbp2	T	A	10: 58,476,336	D959E	probably benign	Het
Rph3al	C	T	11: 75,833,401		probably null	Het
Sec31b	T	A	19: 44,524,553	E499V	probably damaging	Het
Sel1l	T	C	12: 91,811,889	I667M	probably benign	Het
Sel1l	C	A	12: 91,813,945	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,352,069	I123F	probably damaging	Het
Smarca2	G	A	19: 26,681,875	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,536,358		probably benign	Het
Spink12	C	A	18: 44,104,688	S11*	probably null	Het
Sstr2	A	T	11: 113,625,619	I342F	probably benign	Het
Stxbp1	T	C	2: 32,819,848	T78A	probably benign	Het
Trim11	T	A	11: 58,990,584	S434R	probably damaging	Het
Ubr2	T	C	17: 46,955,886	E1113G	probably damaging	Het
Upb1	T	A	10: 75,428,354		probably benign	Het
Vit	T	A	17: 78,624,837	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,411,166	I22V	probably benign	Het
Vps25	T	C	11: 101,258,905		probably benign	Het
Wbp2	G	T	11: 116,082,385	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,217,306	D980G	probably benign	Het
Xkr8	A	C	4: 132,730,917		probably null	Het

Other mutations in Cd180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Cd180	APN	13	102705409	missense	probably benign
IGL00949:Cd180	APN	13	102693760	missense	possibly damaging	0.89
IGL01864:Cd180	APN	13	102706033	missense	possibly damaging	0.93
IGL01901:Cd180	APN	13	102706428	missense	probably benign	0.04
IGL01934:Cd180	APN	13	102702858	missense	probably damaging	1.00
IGL01998:Cd180	APN	13	102705214	missense	probably damaging	0.99
IGL02336:Cd180	APN	13	102705313	missense	probably damaging	0.98
IGL03031:Cd180	APN	13	102705027	missense	probably benign	0.00
IGL03139:Cd180	APN	13	102706416	missense	probably damaging	1.00
Volte_face	UTSW	13	102704923	missense	probably damaging	0.99
H8562:Cd180	UTSW	13	102705418	missense	probably benign	0.02
R0004:Cd180	UTSW	13	102702708	missense	probably benign	0.00
R0393:Cd180	UTSW	13	102705900	missense	probably damaging	0.99
R1080:Cd180	UTSW	13	102706220	nonsense	probably null
R1223:Cd180	UTSW	13	102706222	missense	possibly damaging	0.49
R1669:Cd180	UTSW	13	102705490	missense	probably damaging	1.00
R1772:Cd180	UTSW	13	102706242	missense	probably benign	0.11
R1784:Cd180	UTSW	13	102705859	missense	probably damaging	1.00
R1865:Cd180	UTSW	13	102706009	missense	probably benign
R2252:Cd180	UTSW	13	102706398	nonsense	probably null
R2385:Cd180	UTSW	13	102705183	missense	probably benign	0.00
R4653:Cd180	UTSW	13	102704908	missense	probably damaging	1.00
R4695:Cd180	UTSW	13	102705760	missense	probably benign	0.01
R4790:Cd180	UTSW	13	102702822	missense	probably damaging	0.98
R4934:Cd180	UTSW	13	102739164	critical splice acceptor site	probably null
R5052:Cd180	UTSW	13	102704895	missense	probably benign
R5154:Cd180	UTSW	13	102705774	missense	probably damaging	1.00
R5469:Cd180	UTSW	13	102704834	missense	probably benign	0.37
R5493:Cd180	UTSW	13	102706141	missense	probably benign	0.07
R5615:Cd180	UTSW	13	102706203	missense	probably benign	0.34
R5905:Cd180	UTSW	13	102706033	missense	possibly damaging	0.93
R6282:Cd180	UTSW	13	102693757	missense	possibly damaging	0.90
R6433:Cd180	UTSW	13	102705633	missense	probably benign	0.00
R6456:Cd180	UTSW	13	102702836	missense	probably damaging	1.00
R6784:Cd180	UTSW	13	102702705	missense	probably damaging	0.97
R6815:Cd180	UTSW	13	102705429	missense	probably damaging	1.00
R6838:Cd180	UTSW	13	102702731	missense	probably benign	0.38
R6941:Cd180	UTSW	13	102706191	missense	probably benign	0.23
R7048:Cd180	UTSW	13	102704923	missense	probably damaging	0.99
R7338:Cd180	UTSW	13	102706428	missense	probably benign	0.04
R7466:Cd180	UTSW	13	102704995	missense	probably damaging	1.00
R7647:Cd180	UTSW	13	102705943	missense	probably damaging	1.00
R8179:Cd180	UTSW	13	102705633	missense	probably benign	0.00
R8252:Cd180	UTSW	13	102705996	missense	probably benign	0.00
R8300:Cd180	UTSW	13	102704793	missense	probably benign	0.01
R8460:Cd180	UTSW	13	102702846	missense	probably damaging	1.00
Z1176:Cd180	UTSW	13	102705766	missense	probably damaging	1.00
Z1177:Cd180	UTSW	13	102706032	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCTTCTCCCATCAGAAAGAAGTCAAC -3'
(R):5'- GTGACAGCCAACTCTATTAACAGGCAG -3'

Sequencing Primer
(F):5'- GAAGTCAACAAAACATACAACTGTG -3'
(R):5'- cccacaggatgagaaccac -3'

Posted On

2013-06-11