Mutagenetix > Incidental Mutations

Incidental Mutation 'R7338:Cd180'

569663

Institutional Source

Beutler Lab

Gene Symbol

Cd180

Ensembl Gene

ENSMUSG00000021624

Gene Name

CD180 antigen

Synonyms

Ly78, RP105

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102693558-102739629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102706428 bp

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]

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: 24,376,743	S357P	possibly damaging	Het
Arhgap28	T	C	17: 67,896,111	R166G	probably damaging	Het
Bcan	T	A	3: 87,994,243	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,508,708	N1137S	probably benign	Het
Caprin1	A	G	2: 103,779,423	L170S	probably benign	Het
Card6	C	T	15: 5,099,872	E681K	probably benign	Het
Catsperb	G	A	12: 101,480,984	V248I	probably benign	Het
Ccnj	T	A	19: 40,837,033	H62Q	probably damaging	Het
Cdk11b	A	G	4: 155,647,551	R473G	unknown	Het
Cep126	T	C	9: 8,099,798	T912A	possibly damaging	Het
Chek2	T	A	5: 110,873,514	V530E	probably benign	Het
Chga	G	T	12: 102,562,841	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,054,657	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,842,947	Q458L	probably damaging	Het
Cyp2j11	T	A	4: 96,307,287	T391S	possibly damaging	Het
Dhx16	T	C	17: 35,888,144	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,674,504	T580A	probably benign	Het
Elmo1	A	T	13: 20,280,812	I184L	probably benign	Het
Gabra1	C	T	11: 42,182,294	G51S	unknown	Het
Gabrr3	C	A	16: 59,448,076	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,538,025	N111I	probably damaging	Het
Gjd2	C	T	2: 114,011,102	R298H	probably damaging	Het
Gm5930	T	C	14: 44,336,457	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238	N511K	probably benign	Het
Hdac7	T	C	15: 97,810,022	D122G	probably benign	Het
Ifi204	G	A	1: 173,760,137	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,463,531		probably null	Het
Med21	T	A	6: 146,642,584		probably benign	Het
Mmp19	A	T	10: 128,799,083	T523S	probably benign	Het
Nav3	G	A	10: 109,769,212	T1000I	probably benign	Het
Nin	T	C	12: 70,044,064	D859G		Het
Nip7	T	G	8: 107,057,284	L52R	possibly damaging	Het
Olfr1039	A	T	2: 86,131,382	F94I	probably damaging	Het
Olfr524	A	T	7: 140,202,533	V79E	probably benign	Het
Olfr934	A	G	9: 38,982,520	Y175H	probably damaging	Het
Otop1	T	A	5: 38,300,203	Y435*	probably null	Het
Pak4	A	G	7: 28,564,956	S174P	probably benign	Het
Pcsk7	G	A	9: 45,925,989	R537Q	probably benign	Het
Podxl	G	A	6: 31,529,006	S34F	unknown	Het
Prr36	G	A	8: 4,216,212	R113C	probably damaging	Het
Ptk7	T	C	17: 46,579,599	I436V	probably benign	Het
Slc13a5	C	T	11: 72,266,484	V28I	probably benign	Het
Slc9a3r2	T	A	17: 24,650,208		probably benign	Het
Slco6d1	A	T	1: 98,421,372	D56V	probably benign	Het
Spg11	G	A	2: 122,055,377	R2317W	probably damaging	Het
Stom	T	A	2: 35,323,748		probably null	Het
Svs5	T	C	2: 164,332,808	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,621,614	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,459,819	L181P	probably damaging	Het
Tnni3	A	G	7: 4,521,380	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,193,984	I548V	probably benign	Het
Twf2	A	G	9: 106,203,939		probably benign	Het
Wnt5b	C	A	6: 119,448,131		probably null	Het
Wrap73	A	G	4: 154,152,586	D210G	probably benign	Het
Yipf4	T	G	17: 74,489,776	S21A	probably benign	Het
Zscan20	A	G	4: 128,588,150	M573T	probably benign	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
R0565:Cd180	UTSW	13	102702874	intron	probably benign
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
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'- GACACTCTTTGCGAAAATCCC -3'
(R):5'- CAGATGGGTAGAGCTGACTGTG -3'

Sequencing Primer
(F):5'- GAAAATCCCCCATTGCTGAGGG -3'
(R):5'- GTGTCTCACAGCCATGTCTGG -3'

Posted On

2019-09-13