Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Clec4a2'

701656

Institutional Source

Beutler Lab

Gene Symbol

Clec4a2

Ensembl Gene

ENSMUSG00000030148

Gene Name

C-type lectin domain family 4, member a2

Synonyms

dendritic cell immunoreceptor, Clecsf6, DCIR, Dcir1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123099627-123119891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 123100608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 21 (T21N)

Ref Sequence

ENSEMBL: ENSMUSP00000032248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032248] [ENSMUST00000041779] [ENSMUST00000159891] [ENSMUST00000161365] [ENSMUST00000161636]

AlphaFold

Q9QZ15

Predicted Effect

probably damaging
Transcript: ENSMUST00000032248
AA Change: T21N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: T21N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041779
AA Change: T21N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: T21N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159891
AA Change: T21N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161365
AA Change: T21N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: T21N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161636
AA Change: T21N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123973
Gene: ENSMUSG00000030148
AA Change: T21N

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Adh4	A	T	3: 138,129,860 (GRCm39)	I229F	probably damaging	Het
Ajm1	T	C	2: 25,467,172 (GRCm39)	H913R	possibly damaging	Het
Aldh3b1	T	A	19: 3,965,315 (GRCm39)	S399C	probably damaging	Het
Arhgef28	C	T	13: 98,124,779 (GRCm39)	G501D	probably benign	Het
Asb1	C	A	1: 91,468,551 (GRCm39)	T6N	unknown	Het
Asb18	C	T	1: 89,882,185 (GRCm39)	V382I	probably benign	Het
AU041133	T	C	10: 81,987,220 (GRCm39)	I291T	probably benign	Het
B4galnt2	C	T	11: 95,759,176 (GRCm39)		silent	Het
Bcl7c	T	C	7: 127,306,403 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,711,083 (GRCm39)	N375S	possibly damaging	Het
C6	A	G	15: 4,764,679 (GRCm39)	Q125R	probably benign	Het
Card14	T	C	11: 119,212,759 (GRCm39)	S108P	probably benign	Het
Cntnap2	C	T	6: 45,978,112 (GRCm39)	L256F	probably benign	Het
Cobll1	G	A	2: 64,981,503 (GRCm39)	T29I	probably benign	Het
Coq4	A	T	2: 29,685,433 (GRCm39)	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698 (GRCm39)	L91S	probably benign	Het
Fat2	T	A	11: 55,201,397 (GRCm39)	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 100,836,917 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,676,407 (GRCm39)	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,378 (GRCm39)	S146P	probably damaging	Het
Heatr5b	A	G	17: 79,135,423 (GRCm39)	V236A	probably benign	Het
Hjv	T	C	3: 96,435,710 (GRCm39)	S323P	probably benign	Het
Hmgcr	C	T	13: 96,796,645 (GRCm39)	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,789,632 (GRCm39)	A57S	probably benign	Het
Lilrb4b	G	A	10: 51,357,863 (GRCm39)	V186I	probably damaging	Het
Map1a	T	C	2: 121,132,823 (GRCm39)	V1213A	probably benign	Het
Marf1	T	C	16: 13,935,172 (GRCm39)	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,279,264 (GRCm39)	Y174C	probably damaging	Het
Miga2	T	A	2: 30,261,239 (GRCm39)	V178E	probably benign	Het
Myh11	T	A	16: 14,074,359 (GRCm39)	I174F		Het
Ndufv1	G	T	19: 4,059,412 (GRCm39)	A211E	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrp1	T	C	8: 129,229,144 (GRCm39)	V874A	possibly damaging	Het
Nsf	C	T	11: 103,804,142 (GRCm39)	G197S	probably null	Het
Or10al2	A	T	17: 37,983,637 (GRCm39)	H241L	probably benign	Het
Or2t26	T	C	11: 49,039,822 (GRCm39)	M246T	probably damaging	Het
Pacs2	A	G	12: 113,014,137 (GRCm39)	D196G	probably benign	Het
Pbxip1	A	G	3: 89,351,012 (GRCm39)	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,554,529 (GRCm39)		probably benign	Het
Pgk2	C	T	17: 40,519,233 (GRCm39)	G65D	probably damaging	Het
Plcd3	T	C	11: 102,970,460 (GRCm39)	D193G	probably benign	Het
Plcl2	T	G	17: 50,915,127 (GRCm39)	M712R	probably damaging	Het
Plxna1	G	A	6: 89,334,522 (GRCm39)	Q36*	probably null	Het
Plxnb2	A	G	15: 89,052,015 (GRCm39)	V68A	probably benign	Het
Polr2b	A	G	5: 77,493,224 (GRCm39)	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,111,973 (GRCm39)	T200A	probably benign	Het
Rspry1	T	A	8: 95,349,621 (GRCm39)	V3D	probably damaging	Het
Serpinb6d	T	C	13: 33,855,205 (GRCm39)	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,680,913 (GRCm39)	R72G	probably benign	Het
Smarca5	A	C	8: 81,446,344 (GRCm39)	L452W	probably damaging	Het
Srcin1	T	C	11: 97,416,377 (GRCm39)	K952E	probably damaging	Het
Synpo2l	G	T	14: 20,716,738 (GRCm39)	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,773,803 (GRCm39)	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,930,644 (GRCm39)	T206A	probably damaging	Het
Ttn	T	A	2: 76,562,951 (GRCm39)	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,645,817 (GRCm39)	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,960 (GRCm39)	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,129,582 (GRCm39)	S824R	probably damaging	Het
Vps54	G	A	11: 21,258,771 (GRCm39)	V733I	probably benign	Het
Zfp518b	G	T	5: 38,829,601 (GRCm39)	D801E	probably benign	Het
Zgrf1	C	A	3: 127,392,428 (GRCm39)	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,739,463 (GRCm39)		probably benign	Het

Other mutations in Clec4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Clec4a2	APN	6	123,116,037 (GRCm39)	intron	probably benign
IGL01384:Clec4a2	APN	6	123,104,947 (GRCm39)	missense	probably damaging	1.00
IGL01481:Clec4a2	APN	6	123,119,459 (GRCm39)	missense	probably benign	0.30
IGL02159:Clec4a2	APN	6	123,116,285 (GRCm39)	missense	probably benign	0.04
IGL02436:Clec4a2	APN	6	123,117,637 (GRCm39)	missense	possibly damaging	0.79
IGL03140:Clec4a2	APN	6	123,117,735 (GRCm39)	splice site	probably benign
R0485:Clec4a2	UTSW	6	123,100,588 (GRCm39)	missense	probably damaging	0.99
R1852:Clec4a2	UTSW	6	123,116,084 (GRCm39)	nonsense	probably null
R3431:Clec4a2	UTSW	6	123,116,370 (GRCm39)	splice site	probably null
R4436:Clec4a2	UTSW	6	123,105,013 (GRCm39)	critical splice donor site	probably null
R4524:Clec4a2	UTSW	6	123,102,043 (GRCm39)	missense	probably damaging	1.00
R4736:Clec4a2	UTSW	6	123,117,622 (GRCm39)	missense	probably damaging	1.00
R4740:Clec4a2	UTSW	6	123,117,622 (GRCm39)	missense	probably damaging	1.00
R4908:Clec4a2	UTSW	6	123,119,462 (GRCm39)	missense	probably damaging	1.00
R6516:Clec4a2	UTSW	6	123,116,365 (GRCm39)	missense	probably damaging	1.00
R7394:Clec4a2	UTSW	6	123,116,079 (GRCm39)	missense	unknown
R7454:Clec4a2	UTSW	6	123,119,411 (GRCm39)	missense	probably damaging	0.98
R7644:Clec4a2	UTSW	6	123,101,974 (GRCm39)	missense	probably benign	0.10
R8053:Clec4a2	UTSW	6	123,104,998 (GRCm39)	missense	probably benign	0.00
R8162:Clec4a2	UTSW	6	123,117,711 (GRCm39)	missense	probably damaging	1.00
R8482:Clec4a2	UTSW	6	123,100,630 (GRCm39)	critical splice donor site	probably null
R9127:Clec4a2	UTSW	6	123,116,218 (GRCm39)	missense	probably damaging	1.00
R9341:Clec4a2	UTSW	6	123,104,955 (GRCm39)	missense	probably benign	0.06
R9343:Clec4a2	UTSW	6	123,104,955 (GRCm39)	missense	probably benign	0.06
R9597:Clec4a2	UTSW	6	123,116,291 (GRCm39)	missense	probably benign	0.41
R9671:Clec4a2	UTSW	6	123,101,942 (GRCm39)	missense	possibly damaging	0.68
X0024:Clec4a2	UTSW	6	123,116,040 (GRCm39)	intron	probably benign
X0025:Clec4a2	UTSW	6	123,116,314 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TCGCCCTGGTGATTCTATGC -3'
(R):5'- TACAACTCTACAGCTCTTCAAGTC -3'

Sequencing Primer
(F):5'- CATCTCGTTTATCCTAGTGAGACATG -3'
(R):5'- CTACAGCTCTTCAAGTCAATTTACAG -3'

Posted On

2022-03-25