Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03139:Cd180'

410643

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 #

IGL03139

Quality Score

Status

Chromosome

Chromosomal Location

102693558-102739629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102706416 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 657 (K657E)

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 damaging
Transcript: ENSMUST00000022124
AA Change: K657E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
AA Change: K657E

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,243,208	F97L	probably benign	Het
Acad10	T	C	5: 121,626,082	Y928C	probably benign	Het
Aqp7	A	G	4: 41,045,326	M18T	probably benign	Het
Atxn7	T	C	14: 14,052,994	V144A	probably damaging	Het
Baiap2l2	T	A	15: 79,271,553	N107I	probably damaging	Het
Cep192	T	C	18: 67,828,476		probably null	Het
Cma2	A	G	14: 55,973,799	I183V	probably damaging	Het
Col18a1	C	A	10: 77,113,343	A112S	possibly damaging	Het
Ctu2	A	G	8: 122,478,707	D100G	possibly damaging	Het
Defb29	T	C	2: 152,538,892	K66E	probably damaging	Het
Dis3l	T	A	9: 64,311,950	D566V	probably damaging	Het
Dtx1	C	A	5: 120,694,890	R161L	probably damaging	Het
Efcab6	T	A	15: 83,952,221	L436F	probably benign	Het
Fip1l1	A	G	5: 74,571,115	I254V	possibly damaging	Het
Gid8	C	A	2: 180,714,708	A46E	probably damaging	Het
Gm4951	T	C	18: 60,246,149	V252A	probably benign	Het
Grm8	G	T	6: 27,618,650	Q398K	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Kcnt1	T	C	2: 25,894,468		probably benign	Het
Lrrc8a	T	C	2: 30,255,671	S166P	probably damaging	Het
Map2k6	A	T	11: 110,496,473		probably benign	Het
Mmab	A	G	5: 114,433,344	L157P	probably damaging	Het
Mmrn1	A	T	6: 60,976,340	E535V	probably damaging	Het
Mup4	T	C	4: 59,958,482		probably benign	Het
Nup210	A	G	6: 91,020,239	S820P	probably benign	Het
Olfr547	A	G	7: 102,535,310	K188E	possibly damaging	Het
Pik3cg	T	C	12: 32,192,223	I963V	probably damaging	Het
Plcg1	T	C	2: 160,748,129		probably null	Het
Plscr1	T	C	9: 92,266,385		probably benign	Het
Prss36	C	T	7: 127,933,611	G202E	probably damaging	Het
Psen2	A	T	1: 180,240,785	V101E	probably damaging	Het
Saxo1	T	C	4: 86,487,762	M67V	possibly damaging	Het
Sfrp4	G	A	13: 19,623,558	M42I	probably damaging	Het
Strn3	C	A	12: 51,652,850		probably benign	Het
Tgfb1i1	C	A	7: 128,249,304	P197Q	possibly damaging	Het
Thsd4	A	G	9: 59,997,173	V580A	probably benign	Het
Tjp1	C	A	7: 65,340,434		probably benign	Het
Tprn	C	T	2: 25,264,054	A456V	probably benign	Het
Ttc34	T	C	4: 154,861,270	Y763H	probably benign	Het
Ttn	T	C	2: 76,771,163	T18686A	probably benign	Het
Uggt2	T	A	14: 119,095,310	T71S	probably benign	Het
Vmn2r120	T	A	17: 57,524,742	Y349F	probably benign	Het
Zbtb41	A	G	1: 139,423,838	T230A	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
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

2016-08-02