Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Cd180'

699950

Institutional Source

Beutler Lab

Gene Symbol

Cd180

Ensembl Gene

ENSMUSG00000021624

Gene Name

CD180 antigen

Synonyms

Ly78, RP105

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9227 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

102830055-102843139 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

TA to TAA at 102841514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Adprhl1	C	T	8: 13,271,974 (GRCm39)	V1595I	probably benign	Het
Anxa6	A	G	11: 54,898,694 (GRCm39)	V160A	probably benign	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,499,750 (GRCm39)	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374 (GRCm39)	M300L	probably benign	Het
C1ra	T	C	6: 124,493,739 (GRCm39)	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chd7	C	T	4: 8,805,272 (GRCm39)	S777L	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fam186a	T	C	15: 99,853,384 (GRCm39)	T119A	unknown	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,502,564 (GRCm39)	H449R	probably benign	Het
Fyco1	A	T	9: 123,648,211 (GRCm39)	I1241N	probably damaging	Het
Gabpb2	A	T	3: 95,111,998 (GRCm39)	M77K	probably damaging	Het
Gfpt1	T	A	6: 87,027,906 (GRCm39)	I4K	probably damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Golga4	T	A	9: 118,385,941 (GRCm39)	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Inpp5e	C	T	2: 26,288,616 (GRCm39)	R588H	probably damaging	Het
Kif1b	A	C	4: 149,322,357 (GRCm39)	M854R	probably damaging	Het
Lcn6	A	T	2: 25,570,107 (GRCm39)	K91M	probably damaging	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Lrig1	C	A	6: 94,607,113 (GRCm39)	C160F	probably damaging	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,137,354 (GRCm39)	L175P	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Nim1k	C	A	13: 120,174,118 (GRCm39)	V259F	probably damaging	Het
Nme8	T	G	13: 19,874,384 (GRCm39)	I139L	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pcdha9	A	G	18: 37,131,954 (GRCm39)	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Poglut1	A	T	16: 38,355,168 (GRCm39)	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,534,078 (GRCm39)	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,066,110 (GRCm39)	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,664,498 (GRCm39)	T844A	probably benign	Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Rnf169	T	C	7: 99,574,699 (GRCm39)	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Setd5	T	C	6: 113,098,755 (GRCm39)	F796S	possibly damaging	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Thy1	C	T	9: 43,958,004 (GRCm39)	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,061,271 (GRCm39)	S324Y	probably benign	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,874,719 (GRCm39)	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Uba7	T	C	9: 107,853,001 (GRCm39)	V12A	possibly damaging	Het
Usp5	T	C	6: 124,795,599 (GRCm39)	D598G	probably damaging	Het
Vmn1r158	C	T	7: 22,489,469 (GRCm39)	V247I	probably benign	Het
Vpreb1b	A	G	16: 17,798,801 (GRCm39)	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,230,928 (GRCm39)	M87K	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
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
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'- AAGGCATTGAAGCATCTGTTC -3'
(R):5'- ATGTCCTCAAATGTCCCCAGC -3'

Sequencing Primer
(F):5'- AGCATCTGTTCTTCATCCAAACAGG -3'
(R):5'- GGATCGTAGAGTTCTTCAAACCC -3'

Posted On

2022-02-07