Mutagenetix > Incidental Mutations

Incidental Mutation 'R4908:Cd84'

379155

Institutional Source

Beutler Lab

Gene Symbol

Cd84

Ensembl Gene

ENSMUSG00000038147

Gene Name

CD84 antigen

Synonyms

CDw84, A130013D22Rik, SLAMF5

MMRRC Submission

042510-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171839697-171890718 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171872865 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 183 (D183G)

Ref Sequence

ENSEMBL: ENSMUSP00000120881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042302] [ENSMUST00000136479] [ENSMUST00000155802]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042302
AA Change: D183G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047024
Gene: ENSMUSG00000038147
AA Change: D183G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	26	126	3.16e-1	SMART
IG_like	137	208	1.02e1	SMART
transmembrane domain	220	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128189

Predicted Effect

probably damaging
Transcript: ENSMUST00000136479
AA Change: D183G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122951
Gene: ENSMUSG00000038147
AA Change: D183G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	26	126	3.16e-1	SMART
IG_like	137	208	1.02e1	SMART
transmembrane domain	220	242	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155802
AA Change: D183G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120881
Gene: ENSMUSG00000038147
AA Change: D183G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	26	126	3.16e-1	SMART
IG_like	137	208	1.02e1	SMART
transmembrane domain	220	242	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele of this gene show defects in T follicular helper function and germinal center formation. Mice homozygous for a different knock-out allele display normal platelet physiology and thrombus formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,948,943	I79L	probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Acaa1a	G	A	9: 119,348,706	S218N	probably benign	Het
Acsm5	A	T	7: 119,538,091	I377F	probably damaging	Het
Ahnak2	T	C	12: 112,775,272	T789A	probably benign	Het
Ak9	A	T	10: 41,420,682	T1475S	unknown	Het
AU040320	A	T	4: 126,853,288	N1028Y	probably damaging	Het
Bahcc1	T	A	11: 120,287,754	S2380T	probably benign	Het
Cadps	A	G	14: 12,536,386	Y525H	probably damaging	Het
Casp8ap2	A	G	4: 32,639,905	T320A	possibly damaging	Het
Ccdc138	A	G	10: 58,544,995	N483D	possibly damaging	Het
Ccdc39	G	A	3: 33,839,093		probably null	Het
Cd300c2	T	C	11: 114,996,946	N210S	probably damaging	Het
Cep95	C	T	11: 106,811,346	P390S	probably damaging	Het
Chd9	A	T	8: 91,015,249	H1622L	possibly damaging	Het
Cilp	C	A	9: 65,278,020	Q466K	probably benign	Het
Cinp	T	A	12: 110,884,053	T5S	probably damaging	Het
Clec4a2	T	C	6: 123,142,503	L238S	probably damaging	Het
Cntrob	T	C	11: 69,320,906	Y164C	probably damaging	Het
Col6a3	A	G	1: 90,807,524	L1408P	probably damaging	Het
Cul3	G	A	1: 80,280,915	S468L	possibly damaging	Het
Dnah11	T	A	12: 118,126,883	D1081V	probably benign	Het
Dnah2	C	A	11: 69,521,147	V263L	probably benign	Het
Efna3	C	G	3: 89,315,498	R185P	probably damaging	Het
F5	A	T	1: 164,211,820	I2000F	probably damaging	Het
Fancm	G	A	12: 65,094,871	G422E	probably benign	Het
Gcnt2	A	T	13: 40,860,734	D127V	probably damaging	Het
Gm21798	G	T	15: 64,817,769		probably benign	Het
Gm340	T	A	19: 41,584,162	V452D	probably benign	Het
Gramd1a	A	C	7: 31,138,867	S320R	probably benign	Het
Grn	T	C	11: 102,436,518		probably benign	Het
Helq	A	T	5: 100,762,641		probably null	Het
Herc2	A	G	7: 56,177,912	I2914V	probably benign	Het
Hnrnph1	T	C	11: 50,378,410	V27A	probably damaging	Het
Hs1bp3	G	T	12: 8,324,007	G182C	probably damaging	Het
Idnk	C	T	13: 58,163,453	P78L	probably benign	Het
Il10ra	T	C	9: 45,255,621	D544G	probably benign	Het
Inpp5e	T	C	2: 26,400,906	D383G	probably damaging	Het
Jak1	A	T	4: 101,179,714	V243D	probably damaging	Het
Kcnma1	A	T	14: 23,309,152	S1036T	probably damaging	Het
Kif26a	G	A	12: 112,157,342	C127Y	probably damaging	Het
Kif2c	T	C	4: 117,166,411	E368G	probably damaging	Het
Lasp1	T	A	11: 97,833,704		probably null	Het
Lrrtm1	C	G	6: 77,244,678	H373D	probably benign	Het
Matr3	T	A	18: 35,572,701	D226E	probably damaging	Het
Mmp17	G	A	5: 129,605,666	W456*	probably null	Het
Mpp4	T	C	1: 59,125,589	E463G	probably damaging	Het
Myh6	A	C	14: 54,956,962	F737V	probably damaging	Het
Nars2	T	A	7: 97,023,741	D271E	probably benign	Het
Nav2	A	G	7: 49,604,510	E2352G	probably damaging	Het
Nckap1	A	G	2: 80,523,374		probably null	Het
Nckap5	A	T	1: 126,027,587	S477R	probably damaging	Het
Nek11	T	G	9: 105,298,289	I319L	probably benign	Het
Neto2	A	G	8: 85,669,764	I84T	probably damaging	Het
Nlrp9a	A	T	7: 26,550,944	I45F	probably damaging	Het
Numa1	G	A	7: 102,012,805	R548H	probably damaging	Het
Olfr1154	A	T	2: 87,903,189	N162K	probably damaging	Het
Olfr1186	T	A	2: 88,525,910	I109N	probably damaging	Het
Olfr1258	A	T	2: 89,930,579	M257L	probably benign	Het
Olfr1280	T	A	2: 111,316,229	F250Y	probably benign	Het
Olfr292	A	C	7: 86,695,187	I244L	probably benign	Het
Olfr694	A	T	7: 106,689,533	L66H	probably damaging	Het
Olfr713	A	C	7: 107,036,157	M1L	probably benign	Het
Olfr843	A	G	9: 19,248,853	V182A	probably benign	Het
Pcdhb16	T	A	18: 37,479,841		probably null	Het
Pdcd10	T	C	3: 75,541,246	T4A	probably damaging	Het
Pgc	A	T	17: 47,728,894	Y71F	probably damaging	Het
Phlpp1	G	A	1: 106,389,751	G1234E	probably damaging	Het
Prr27	T	C	5: 87,843,029	F167L	probably benign	Het
Prrc2b	T	A	2: 32,226,318	S1421T	possibly damaging	Het
Pxmp2	A	G	5: 110,283,652	V75A	probably benign	Het
Pygl	A	T	12: 70,197,033	M545K	probably null	Het
Ranbp9	A	G	13: 43,421,257	Y412H	possibly damaging	Het
Rcc1	A	G	4: 132,337,753	V140A	probably damaging	Het
Reln	A	G	5: 21,979,720	V1599A	probably benign	Het
Rhebl1	A	T	15: 98,879,022	D122E	probably damaging	Het
Rock2	C	T	12: 16,959,491	L676F	probably benign	Het
Scn9a	A	T	2: 66,526,743	D1062E	probably benign	Het
Sec63	T	C	10: 42,805,190	I390T	probably damaging	Het
Slc10a6	T	C	5: 103,606,627	E346G	probably benign	Het
Slc12a3	G	A	8: 94,348,588	V737M	possibly damaging	Het
Slc12a8	T	C	16: 33,606,259		probably null	Het
Slc25a38	T	A	9: 120,120,288	I102N	probably damaging	Het
Spg7	T	A	8: 123,080,655	V390E	probably damaging	Het
Tbc1d20	T	C	2: 152,302,308	V75A	probably benign	Het
Tesk1	T	A	4: 43,445,555	C243*	probably null	Het
Ttk	T	A	9: 83,843,686	N220K	possibly damaging	Het
Ttll5	A	G	12: 85,919,174	E651G	probably benign	Het
Tubd1	T	C	11: 86,567,053	Y426H	probably damaging	Het
Uba6	T	C	5: 86,140,434		silent	Het
Ube2ql1	G	A	13: 69,704,170	R263W	probably damaging	Het
Vmn2r117	C	T	17: 23,459,838	G804D	probably damaging	Het
Vmn2r25	C	T	6: 123,828,447	E484K	probably benign	Het
Vmn2r4	T	A	3: 64,389,055	I770F	possibly damaging	Het
Vmn2r82	G	A	10: 79,378,755	V191M	probably benign	Het
Zbtb45	C	T	7: 13,008,110	V74M	probably damaging	Het
Zfp366	T	C	13: 99,234,101	V443A	possibly damaging	Het
Zfyve1	A	T	12: 83,551,571	C628S	probably damaging	Het
Zfyve26	A	T	12: 79,249,695		probably null	Het

Other mutations in Cd84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Cd84	APN	1	171852137	critical splice donor site	probably null
IGL01371:Cd84	APN	1	171886370	missense	probably benign	0.36
IGL03035:Cd84	APN	1	171852034	missense	probably damaging	0.99
IGL03098:Cd84	APN	1	171872700	missense	possibly damaging	0.78
R0511:Cd84	UTSW	1	171872927	missense	probably benign	0.00
R1244:Cd84	UTSW	1	171851830	missense	probably damaging	0.99
R1438:Cd84	UTSW	1	171852118	missense	probably damaging	1.00
R1459:Cd84	UTSW	1	171851943	missense	probably benign	0.02
R1654:Cd84	UTSW	1	171884606	missense	possibly damaging	0.69
R1658:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1659:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1765:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1771:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1776:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1799:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1815:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1816:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R1982:Cd84	UTSW	1	171884585	splice site	probably null
R1990:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R2056:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R2057:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R2058:Cd84	UTSW	1	171872750	missense	possibly damaging	0.78
R2098:Cd84	UTSW	1	171885581	missense	probably benign	0.07
R4674:Cd84	UTSW	1	171873320	missense	possibly damaging	0.82
R4675:Cd84	UTSW	1	171873320	missense	possibly damaging	0.82
R4806:Cd84	UTSW	1	171852121	missense	probably benign	0.00
R4828:Cd84	UTSW	1	171872748	missense	probably damaging	0.97
R5366:Cd84	UTSW	1	171873305	missense	probably damaging	1.00
R5725:Cd84	UTSW	1	171873361	missense	probably benign	0.00
R5883:Cd84	UTSW	1	171872838	missense	possibly damaging	0.58
R6722:Cd84	UTSW	1	171872777	missense	probably damaging	0.98
R6966:Cd84	UTSW	1	171886409	missense	possibly damaging	0.93
R7513:Cd84	UTSW	1	171884618	missense	probably benign	0.01
R7733:Cd84	UTSW	1	171840659	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTCATATGTTTTCCCCTTATAGG -3'
(R):5'- ACACCCAGTGCTAGTCTCAC -3'

Sequencing Primer
(F):5'- TCCCCTTATAGGTCGACTTAAAAC -3'
(R):5'- GCTAGTCTCACTTTAAAGGAGGCAC -3'

Posted On

2016-04-15