Mutagenetix > Incidental Mutation

Incidental Mutation 'P4748:Clec4n'

26537

Institutional Source

Beutler Lab

Gene Symbol

Clec4n

Ensembl Gene

ENSMUSG00000023349

Gene Name

C-type lectin domain family 4, member n

Synonyms

Clecsf10, Nkcl, dectin-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P4748 () of strain 712

Quality Score

222

Status

Validated (trace)

Chromosome

Chromosomal Location

123206802-123223980 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123221499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 114 (Q114H)

Ref Sequence

ENSEMBL: ENSMUSP00000113733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024118] [ENSMUST00000112554] [ENSMUST00000117130] [ENSMUST00000151714] [ENSMUST00000205129]

AlphaFold

Q9JKF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000024118
AA Change: Q144H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349
AA Change: Q144H

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
CLECT	79	203	5.89e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112554
AA Change: Q110H

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108173
Gene: ENSMUSG00000023349
AA Change: Q110H

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
CLECT	45	169	5.89e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117130
AA Change: Q114H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349
AA Change: Q114H

Domain	Start	End	E-Value	Type
CLECT	49	173	5.89e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151714

SMART Domains

Protein: ENSMUSP00000120043
Gene: ENSMUSG00000023349

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205129

SMART Domains

Protein: ENSMUSP00000145023
Gene: ENSMUSG00000023349

Domain	Start	End	E-Value	Type
Blast:CLECT	26	72	3e-13	BLAST

Meta Mutation Damage Score

0.1590

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 94.5%

Validation Efficiency

87% (26/30)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele have defective responses to Candida albicans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930556J24Rik	A	T	11: 3,888,178 (GRCm39)		probably null	Het
Acoxl	T	C	2: 127,928,264 (GRCm39)		probably benign	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Akap10	A	G	11: 61,763,846 (GRCm39)	L662P	possibly damaging	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Ccr4	C	T	9: 114,321,906 (GRCm39)	G53D	probably damaging	Het
Cdc25a	T	C	9: 109,713,176 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,210,983 (GRCm39)		probably benign	Het
Depdc1a	T	C	3: 159,228,184 (GRCm39)	V312A	probably damaging	Het
Ephb6	C	T	6: 41,594,219 (GRCm39)	P583L	probably damaging	Het
Klra8	A	T	6: 130,099,007 (GRCm39)	D185E	possibly damaging	Het
Meis2	T	A	2: 115,694,961 (GRCm39)	Q394L	probably benign	Het
Or2t47	G	A	11: 58,442,348 (GRCm39)	T239I	probably damaging	Het
Pzp	C	T	6: 128,467,052 (GRCm39)	G1107D	probably damaging	Het
Ralgapa2	C	T	2: 146,188,731 (GRCm39)	W1350*	probably null	Het
Scand1	C	A	2: 156,153,865 (GRCm39)	R135L	probably damaging	Het
Spopl	A	T	2: 23,401,455 (GRCm39)	M351K	probably benign	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Ube2e2	A	G	14: 18,630,297 (GRCm38)		probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp51	GATGCAT	GAT	X: 151,791,227 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,031 (GRCm39)	D425E	probably damaging	Het

Other mutations in Clec4n

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Clec4n	APN	6	123,221,433 (GRCm39)	intron	probably benign
IGL02248:Clec4n	APN	6	123,207,527 (GRCm39)	missense	probably damaging	0.99
IGL03181:Clec4n	APN	6	123,207,474 (GRCm39)	missense	possibly damaging	0.90
IGL03293:Clec4n	APN	6	123,209,105 (GRCm39)	missense	probably benign	0.10
P4717OSA:Clec4n	UTSW	6	123,221,499 (GRCm39)	missense	probably damaging	0.97
R1137:Clec4n	UTSW	6	123,223,526 (GRCm39)	missense	possibly damaging	0.80
R1445:Clec4n	UTSW	6	123,212,475 (GRCm39)	missense	probably benign	0.01
R1538:Clec4n	UTSW	6	123,206,992 (GRCm39)	missense	possibly damaging	0.66
R1804:Clec4n	UTSW	6	123,206,981 (GRCm39)	missense	possibly damaging	0.46
R1960:Clec4n	UTSW	6	123,207,505 (GRCm39)	missense	probably damaging	0.99
R2046:Clec4n	UTSW	6	123,223,463 (GRCm39)	missense	probably benign	0.00
R4097:Clec4n	UTSW	6	123,207,700 (GRCm39)	missense	possibly damaging	0.66
R4657:Clec4n	UTSW	6	123,209,155 (GRCm39)	critical splice donor site	probably null
R4967:Clec4n	UTSW	6	123,209,066 (GRCm39)	missense	probably benign	0.41
R5471:Clec4n	UTSW	6	123,209,145 (GRCm39)	missense	probably benign	0.06
R6703:Clec4n	UTSW	6	123,212,553 (GRCm39)	missense	probably null	1.00
R7411:Clec4n	UTSW	6	123,209,145 (GRCm39)	missense	probably benign	0.06
R7877:Clec4n	UTSW	6	123,209,063 (GRCm39)	missense	probably benign	0.02
R9127:Clec4n	UTSW	6	123,212,447 (GRCm39)	missense	probably damaging	1.00
R9259:Clec4n	UTSW	6	123,212,424 (GRCm39)	missense	probably damaging	1.00
R9375:Clec4n	UTSW	6	123,207,662 (GRCm39)	missense	probably benign	0.27
R9454:Clec4n	UTSW	6	123,212,532 (GRCm39)	missense	possibly damaging	0.93
R9471:Clec4n	UTSW	6	123,221,505 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CCAATGACCTTTCCTTTCACTTCTGCT -3'
(R):5'- TTTCAATGTAACGCACTAGATTACATGAGGAT -3'

Sequencing Primer
(F):5'- CTGCTTTTTTCTATTCCAATGGC -3'
(R):5'- gaactctgcctgcctctg -3'

Posted On

2013-04-16