Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Cd180'

187484

Institutional Source

Beutler Lab

Gene Symbol

Cd180

Ensembl Gene

ENSMUSG00000021624

Gene Name

CD180 antigen

Synonyms

Ly78, RP105

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102830055-102843139 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102841998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 348 (T348I)

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 damaging
Transcript: ENSMUST00000022124
AA Change: T348I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: T348I

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

Meta Mutation Damage Score

0.5079

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	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
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
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'- GTGGAGAGCATCAACCTACAGAAGC -3'
(R):5'- GCTCAGGGGTTCATTGTAGCTCAAG -3'

Sequencing Primer
(F):5'- GCATCAACCTACAGAAGCATTATTTC -3'
(R):5'- AGCTCAAGTTCAGGCTCTGTAAG -3'

Posted On

2014-05-09