Mutagenetix > Incidental Mutations

Incidental Mutation 'R8252:Cd180'

640202

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 #

R8252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102693558-102739629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102705996 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 517 (T517A)

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: T517A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: T517A

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: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,971,272		probably benign	Het
Ano4	A	G	10: 88,981,019	I644T	probably damaging	Het
Arhgap18	T	A	10: 26,854,936	D203E	probably benign	Het
Ascc3	T	A	10: 50,642,610	M337K	probably benign	Het
Atg13	G	C	2: 91,680,354	P343A	probably benign	Het
Cacna1c	C	T	6: 118,657,374	V1058I		Het
Cd1d2	A	C	3: 86,987,068	I48L	probably benign	Het
Cdh19	C	T	1: 110,889,885	C709Y	probably benign	Het
Chst10	T	C	1: 38,884,352	D51G	probably benign	Het
Clec2g	G	A	6: 128,981,372	E184K	probably benign	Het
Col19a1	T	A	1: 24,279,967	H1014L	probably benign	Het
Fam135b	T	A	15: 71,533,023	H58L	probably benign	Het
Fam171b	A	G	2: 83,878,242	I363V	probably benign	Het
Hecw1	C	A	13: 14,340,840	G236W	probably damaging	Het
Htra3	A	G	5: 35,652,961	M459T	probably benign	Het
Iglc2	A	T	16: 19,198,770	C27*	probably null	Het
Il1f8	A	T	2: 24,158,813	T77S	possibly damaging	Het
Kif1b	A	T	4: 149,273,805	N135K	probably damaging	Het
Krt5	A	T	15: 101,712,359	I151N	probably damaging	Het
Lama4	A	T	10: 39,060,146	M606L	probably benign	Het
Lgr6	T	A	1: 135,003,477	S280C	probably null	Het
Msh3	T	A	13: 92,221,061	T967S	probably damaging	Het
Mum1	A	G	10: 80,241,860	I656V	probably benign	Het
Ndufb4	T	C	16: 37,654,275	T29A	probably benign	Het
Nfe2l1	T	C	11: 96,819,232	M724V	probably benign	Het
Nudt12	T	C	17: 59,011,094	Y52C	probably damaging	Het
Nutm1	G	T	2: 112,251,829	Q301K	probably damaging	Het
Olfr1189	A	G	2: 88,592,667	R288G	probably damaging	Het
Olfr325	T	A	11: 58,581,132	I96N	probably damaging	Het
Olfr469	A	G	7: 107,822,569	I300T	probably damaging	Het
Olfr49	T	A	14: 54,282,247	Y216F	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pcdha11	G	C	18: 37,007,537	V740L	possibly damaging	Het
Pkd1l2	T	C	8: 117,040,733	T1273A	probably benign	Het
Pla2g4a	T	C	1: 149,851,307	D574G	probably damaging	Het
Prrc2b	A	T	2: 32,219,380	Q1719L	possibly damaging	Het
Psap	A	G	10: 60,277,689		probably benign	Het
Rab11fip2	C	T	19: 59,936,990	S265N	probably benign	Het
Rnf10	A	T	5: 115,260,314	D53E	probably benign	Het
Scgb2b11	T	C	7: 32,209,339	E112G	probably benign	Het
Scml4	T	C	10: 42,924,104	Y85H	noncoding transcript	Het
Setd5	T	A	6: 113,150,955	Y1290N	probably benign	Het
Sgk1	T	A	10: 21,997,399	C375S	probably damaging	Het
Sik2	A	G	9: 50,917,115	V209A	possibly damaging	Het
Sipa1l2	A	T	8: 125,468,671	V776D	probably damaging	Het
Slamf1	T	A	1: 171,767,228	M1K	probably null	Het
Slc26a7	T	C	4: 14,621,415		probably benign	Het
Spg11	G	T	2: 122,088,339		probably benign	Het
Sry	C	A	Y: 2,663,298	A121S	possibly damaging	Het
Sspo	C	T	6: 48,485,452	T3719I	probably damaging	Het
Tcap	T	C	11: 98,384,345	S102P	probably benign	Het
Thap7	T	C	16: 17,528,622	R166G	probably benign	Het
Tmem229a	T	C	6: 24,955,581	Y58C	probably damaging	Het
Trim8	A	G	19: 46,515,620	Y537C	probably damaging	Het
Ubr4	T	A	4: 139,473,217	M4692K	unknown	Het
Uvssa	A	G	5: 33,392,179	S395G	probably benign	Het
Vgll4	G	T	6: 114,890,734	T52K	probably damaging	Het
Vmn2r7	A	G	3: 64,693,106	L548P	probably benign	Het
Vmn2r92	T	A	17: 18,166,872	S158T	probably damaging	Het
Wdr70	A	T	15: 8,042,856		probably benign	Het
Zbtb48	A	T	4: 152,020,887	C463S	probably damaging	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
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
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'- GAAGGTGCTGAATCTCTCCC -3'
(R):5'- AAGTGCAGTCAAGGGGATTTTG -3'

Sequencing Primer
(F):5'- TCCTTGACATCAGCAGTGAG -3'
(R):5'- GTCTTAAATTAATGGTCCTCTGCTG -3'

Posted On

2020-07-28