Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01934:Cd180'

180552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd180

Ensembl Gene

ENSMUSG00000021624

Gene Name

CD180 antigen

Synonyms

Ly78, RP105

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

102693558-102739629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102702858 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 83 (D83V)

Ref Sequence

ENSEMBL: ENSMUSP00000129096 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022124
AA Change: D83V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: D83V

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 damaging
Transcript: ENSMUST00000170878
AA Change: D83V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624
AA Change: D83V

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 damaging
Transcript: ENSMUST00000171267
AA Change: D83V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129096
Gene: ENSMUSG00000021624
AA Change: D83V

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

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,585,655	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 91,055,865	T128S	probably damaging	Het
Aars	T	A	8: 111,048,018	I593N	probably damaging	Het
Abca6	A	T	11: 110,188,655	N1224K	probably benign	Het
Abcc5	A	T	16: 20,422,441		probably benign	Het
Adam7	A	G	14: 68,532,599	L35P	probably damaging	Het
Ahnak	T	A	19: 9,002,657	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,552,531	E620G	possibly damaging	Het
Ap3d1	A	T	10: 80,709,258	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,051,546	I712F	possibly damaging	Het
Bco1	T	A	8: 117,096,045	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,308,768	S794C	probably damaging	Het
Camk2d	T	C	3: 126,834,655		probably null	Het
Capn15	T	C	17: 25,963,024	T604A	probably damaging	Het
Ces1a	C	A	8: 93,032,650	R286L	probably damaging	Het
Col6a6	A	G	9: 105,698,659		probably null	Het
Crnkl1	A	G	2: 145,931,282	V148A	probably benign	Het
Epas1	A	T	17: 86,823,729	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,822,606	S148G	probably damaging	Het
Fig4	T	C	10: 41,228,112	T791A	probably benign	Het
Galnt9	A	T	5: 110,602,636	I340F	possibly damaging	Het
Gfap	G	A	11: 102,894,460	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm454	T	C	5: 138,207,162		noncoding transcript	Het
Il24	A	T	1: 130,883,877	L115Q	probably damaging	Het
Ipp	C	A	4: 116,510,655	N28K	probably damaging	Het
Kalrn	A	T	16: 34,198,512		probably null	Het
Klf10	C	T	15: 38,297,284	V171M	probably benign	Het
Man1b1	T	C	2: 25,345,511	S350P	probably benign	Het
Mfsd4a	T	C	1: 132,046,311	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,410,729		probably benign	Het
Myo7b	A	G	18: 32,001,341		probably null	Het
Nbas	T	C	12: 13,289,879		probably benign	Het
Nisch	A	G	14: 31,176,739		probably benign	Het
Olfr494	A	G	7: 108,368,161	I224V	probably damaging	Het
Olfr619	T	C	7: 103,603,975	F107S	probably damaging	Het
Olfr97	A	T	17: 37,231,548	V274D	probably damaging	Het
Parva	T	A	7: 112,588,553	C352*	probably null	Het
Ptf1a	T	A	2: 19,446,620	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,236,535	R1062L	probably benign	Het
Rnf44	A	G	13: 54,681,950	V407A	probably damaging	Het
Shank3	T	C	15: 89,549,846	L1598P	probably damaging	Het
Slit2	T	C	5: 48,238,405	S717P	possibly damaging	Het
Svs1	A	T	6: 48,988,761	I568F	probably damaging	Het
Tdpoz4	A	G	3: 93,797,472	K359E	probably damaging	Het
Tmtc4	A	T	14: 122,927,635	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,065,187	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,834,510		probably benign	Het
Tnpo3	A	T	6: 29,575,020	L382M	probably benign	Het
Tut1	T	C	19: 8,953,991	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,914,775	S229P	probably benign	Het
Usp22	T	C	11: 61,155,288	E476G	probably damaging	Het
Vill	G	T	9: 119,066,809	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,893,937	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,740,116	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,319,833		probably null	Het
Zfp236	A	T	18: 82,633,120	V889E	probably damaging	Het
Zscan20	T	C	4: 128,592,484	D141G	possibly 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
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
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

Posted On

2014-05-07