Mutagenetix > Incidental Mutations

Incidental Mutation 'R4908:Clec4a2'

379186

Institutional Source

Beutler Lab

Gene Symbol

Clec4a2

Ensembl Gene

ENSMUSG00000030148

Gene Name

C-type lectin domain family 4, member a2

Synonyms

Dcir1, dendritic cell immunoreceptor, DCIR, Clecsf6

MMRRC Submission

042510-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123106428-123143999 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123142503 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 238 (L238S)

Ref Sequence

ENSEMBL: ENSMUSP00000124615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032248] [ENSMUST00000041779] [ENSMUST00000161365]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032248
AA Change: L262S

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

SMART Domains

Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: L262S

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	131	256	1.18e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000041779
AA Change: L238S

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

SMART Domains

Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: L238S

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
CLECT	107	232	1.18e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161365
AA Change: L238S

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

SMART Domains

Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: L238S

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
CLECT	107	232	1.18e-30	SMART

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 member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased IgG2a, IgG2b and IgG3 levels, increased B cell proliferation, enlarged lymph nodes and degeneration of seminiferous tubules. [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
Cd84	A	G	1: 171,872,865	D183G	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
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 Clec4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Clec4a2	APN	6	123139078	intron	probably benign
IGL01384:Clec4a2	APN	6	123127988	missense	probably damaging	1.00
IGL01481:Clec4a2	APN	6	123142500	missense	probably benign	0.30
IGL02159:Clec4a2	APN	6	123139326	missense	probably benign	0.04
IGL02436:Clec4a2	APN	6	123140678	missense	possibly damaging	0.79
IGL03140:Clec4a2	APN	6	123140776	splice site	probably benign
R0485:Clec4a2	UTSW	6	123123629	missense	probably damaging	0.99
R1852:Clec4a2	UTSW	6	123139125	nonsense	probably null
R3431:Clec4a2	UTSW	6	123139411	splice site	probably null
R4436:Clec4a2	UTSW	6	123128054	critical splice donor site	probably null
R4524:Clec4a2	UTSW	6	123125084	missense	probably damaging	1.00
R4736:Clec4a2	UTSW	6	123140663	missense	probably damaging	1.00
R4740:Clec4a2	UTSW	6	123140663	missense	probably damaging	1.00
R6516:Clec4a2	UTSW	6	123139406	missense	probably damaging	1.00
R7394:Clec4a2	UTSW	6	123139120	missense	unknown
R7454:Clec4a2	UTSW	6	123142452	missense	probably damaging	0.98
R7644:Clec4a2	UTSW	6	123125015	missense	probably benign	0.10
X0024:Clec4a2	UTSW	6	123139081	intron	probably benign
X0025:Clec4a2	UTSW	6	123139355	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TAGGAATCACCCTGATGTTCTTTCC -3'
(R):5'- TTCCATGTGTGTCCATAAGGG -3'

Sequencing Primer
(F):5'- CTCCCTTTCAGATTCTGGCACAATG -3'
(R):5'- CCATAAGGGACTCTGTATACTCTGTG -3'

Posted On

2016-04-15