Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:Clec4n'

221953

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

MMRRC Submission

040053-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123206802-123223980 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123223463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 153 (N153K)

Ref Sequence

ENSEMBL: ENSMUSP00000113733 (fasta)

Gene Model

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

AlphaFold

Q9JKF4

Predicted Effect

probably benign
Transcript: ENSMUST00000024118
AA Change: N183K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349
AA Change: N183K

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: N149K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108173
Gene: ENSMUSG00000023349
AA Change: N149K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117130
AA Change: N153K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349
AA Change: N153K

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,553 (GRCm39)	D84V	probably damaging	Het
Abcc5	A	T	16: 20,218,567 (GRCm39)	S272T	possibly damaging	Het
Adgre4	A	G	17: 56,085,847 (GRCm39)	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,227,212 (GRCm39)	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,680,895 (GRCm39)	E678D	probably benign	Het
Arid2	G	A	15: 96,267,268 (GRCm39)	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,570,985 (GRCm39)	S184T	probably benign	Het
Bend3	T	C	10: 43,387,842 (GRCm39)	F745S	probably damaging	Het
Card10	A	T	15: 78,671,673 (GRCm39)	V597E	possibly damaging	Het
Casp3	T	A	8: 47,082,761 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,316,629 (GRCm39)	V340A	probably benign	Het
Cdkl3	G	T	11: 51,917,677 (GRCm39)	V325L	probably benign	Het
Crtac1	C	T	19: 42,322,492 (GRCm39)	V83I	probably damaging	Het
Cul9	C	A	17: 46,854,659 (GRCm39)	L14F	probably damaging	Het
Dgka	T	C	10: 128,559,404 (GRCm39)	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,699,040 (GRCm39)	K314T	possibly damaging	Het
Dnaaf9	T	A	2: 130,652,837 (GRCm39)	I42L	possibly damaging	Het
Dnah10	G	T	5: 124,873,405 (GRCm39)	K2542N	probably benign	Het
Dock5	A	T	14: 68,049,591 (GRCm39)	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,334,455 (GRCm39)	H571L	probably damaging	Het
Dzip1	A	T	14: 119,159,890 (GRCm39)	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,281,889 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,799 (GRCm39)	Y70C	probably damaging	Het
Eps15	T	C	4: 109,227,793 (GRCm39)	F344S	probably damaging	Het
Erbb4	C	T	1: 68,337,482 (GRCm39)	R612Q	probably benign	Het
Fam83h	T	C	15: 75,874,787 (GRCm39)	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604 (GRCm39)	C484R	probably damaging	Het
Fzd9	A	G	5: 135,278,538 (GRCm39)	I449T	probably damaging	Het
Gm10647	A	G	9: 66,705,519 (GRCm39)		probably benign	Het
Iigp1c	T	A	18: 60,378,571 (GRCm39)	H35Q	probably benign	Het
Itga11	C	T	9: 62,634,979 (GRCm39)	L86F	probably damaging	Het
Lamc2	C	T	1: 153,017,511 (GRCm39)	R492H	probably benign	Het
Marchf6	A	G	15: 31,486,580 (GRCm39)	V325A	probably benign	Het
Myo5b	A	T	18: 74,710,526 (GRCm39)	I47F	probably benign	Het
Nek9	T	A	12: 85,367,481 (GRCm39)		probably benign	Het
Nelfb	T	A	2: 25,096,323 (GRCm39)	N262I	probably damaging	Het
Neurl4	A	G	11: 69,799,523 (GRCm39)	D942G	probably damaging	Het
Nipbl	G	A	15: 8,353,951 (GRCm39)	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807 (GRCm39)	T468A	possibly damaging	Het
Nrm	G	A	17: 36,175,109 (GRCm39)	V146I	probably benign	Het
Or8h9	C	A	2: 86,789,077 (GRCm39)	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,125,618 (GRCm39)	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 117,726,694 (GRCm39)	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,096,428 (GRCm39)	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,103 (GRCm39)	E273G	probably benign	Het
Psme4	A	G	11: 30,767,723 (GRCm39)		probably benign	Het
Pus7l	T	C	15: 94,438,666 (GRCm39)	I60V	probably benign	Het
Pygo2	T	A	3: 89,340,455 (GRCm39)	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,741,945 (GRCm39)	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,205,742 (GRCm39)	G198E	probably benign	Het
Reln	T	C	5: 22,147,625 (GRCm39)	I2442V	probably benign	Het
Rmi1	T	C	13: 58,555,772 (GRCm39)	V7A	probably benign	Het
Rsf1	T	C	7: 97,310,884 (GRCm39)	L538P	probably benign	Het
Rsph4a	T	G	10: 33,790,539 (GRCm39)		probably benign	Het
Sardh	A	T	2: 27,105,094 (GRCm39)	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,914 (GRCm39)	M892V	probably benign	Het
Slc38a11	A	G	2: 65,188,529 (GRCm39)	F80S	probably damaging	Het
Slc6a2	C	A	8: 93,699,554 (GRCm39)	S194*	probably null	Het
Slco2b1	A	G	7: 99,339,686 (GRCm39)	F86L	probably damaging	Het
Smc3	G	A	19: 53,627,845 (GRCm39)	D875N	probably benign	Het
Sp100	G	A	1: 85,636,786 (GRCm39)	E575K	possibly damaging	Het
Spns2	A	G	11: 72,349,866 (GRCm39)	L196P	possibly damaging	Het
Taf8	A	G	17: 47,801,201 (GRCm39)	S261P	probably benign	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Ttn	C	A	2: 76,738,138 (GRCm39)	V4134F	probably benign	Het
Ush2a	A	G	1: 188,089,124 (GRCm39)	T360A	probably benign	Het
Usp28	T	A	9: 48,950,375 (GRCm39)	C935S	probably damaging	Het
Vps37d	T	A	5: 135,102,831 (GRCm39)	M134L	probably benign	Het
Vwa2	T	G	19: 56,894,010 (GRCm39)	V329G	probably benign	Het
Zfp110	A	G	7: 12,583,349 (GRCm39)	R666G	probably benign	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
P4748: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
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'- GCAAAACTGCCCATATTTGGC -3'
(R):5'- AGAACGGCCTCTGTCAGATG -3'

Sequencing Primer
(F):5'- GAGAAAATGCTGGAATGTTCTCTC -3'
(R):5'- CTCTGTCAGATGTACAGGCCAAG -3'

Posted On

2014-08-25