Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Clec4n'

714463

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123206802-123223980 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123212532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 116 (V116A)

Ref Sequence

ENSEMBL: ENSMUSP00000024118 (fasta)

Gene Model

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

AlphaFold

Q9JKF4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024118
AA Change: V116A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349
AA Change: V116A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112554
AA Change: V82A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108173
Gene: ENSMUSG00000023349
AA Change: V82A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117130
AA Change: V86A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349
AA Change: V86A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,952,067 (GRCm39)	H431Q	possibly damaging	Het
Adam25	A	T	8: 41,207,486 (GRCm39)	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,916,842 (GRCm39)	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,916,846 (GRCm39)	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789 (GRCm39)	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,870,153 (GRCm39)	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,308,236 (GRCm39)	S39*	probably null	Het
Aspm	G	A	1: 139,408,732 (GRCm39)	E2540K	probably benign	Het
Atp10a	T	C	7: 58,308,339 (GRCm39)	I46T	probably benign	Het
Atp13a5	C	A	16: 29,133,338 (GRCm39)	V483L	possibly damaging	Het
BC028528	T	C	3: 95,797,082 (GRCm39)	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,166,114 (GRCm39)	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,350,521 (GRCm39)	A199T	probably benign	Het
Cfap65	A	T	1: 74,944,210 (GRCm39)	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,665,899 (GRCm39)	E383*	probably null	Het
Cmc2	G	T	8: 117,616,550 (GRCm39)	D58E	unknown	Het
Cntn6	A	G	6: 104,781,308 (GRCm39)	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,661,059 (GRCm39)	A350V	probably damaging	Het
Cps1	A	G	1: 67,219,311 (GRCm39)	I884V	probably damaging	Het
E2f7	C	T	10: 110,620,542 (GRCm39)	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,346,860 (GRCm39)	Q114L	unknown	Het
Egfr	G	T	11: 16,837,155 (GRCm39)	G632V	probably damaging	Het
Fam98b	T	C	2: 117,080,250 (GRCm39)	M1T	probably null	Het
Fcgr2b	T	A	1: 170,788,657 (GRCm39)	I317F	probably damaging	Het
Galntl6	T	C	8: 58,411,435 (GRCm39)	D265G	probably damaging	Het
Gm4922	A	G	10: 18,660,329 (GRCm39)	L131P	probably damaging	Het
H1f7	T	C	15: 98,154,823 (GRCm39)	I109V	probably benign	Het
H2-Q1	A	T	17: 35,540,349 (GRCm39)	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Ica1	A	T	6: 8,667,288 (GRCm39)	S293T	probably benign	Het
Ift70a2	T	A	2: 75,806,812 (GRCm39)	I567F	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Magi2	G	T	5: 20,671,176 (GRCm39)	V507F	probably damaging	Het
Malrd1	T	C	2: 15,757,660 (GRCm39)	I978T	unknown	Het
Malrd1	G	A	2: 15,802,537 (GRCm39)	W1083*	probably null	Het
Mgarp	T	C	3: 51,303,902 (GRCm39)	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,538,612 (GRCm39)	I17V		Het
Muc5ac	C	T	7: 141,362,431 (GRCm39)	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,835,864 (GRCm39)	T73A	probably benign	Het
Or4b1	A	C	2: 89,979,820 (GRCm39)	C177G	probably damaging	Het
Or8k21	A	T	2: 86,145,178 (GRCm39)	Y151N	probably damaging	Het
Pclo	T	A	5: 14,762,452 (GRCm39)	S357T	probably benign	Het
Pkdrej	T	A	15: 85,702,420 (GRCm39)	N1172I	probably benign	Het
Psmb9	G	A	17: 34,402,078 (GRCm39)	R173C	probably benign	Het
Ralgapb	T	A	2: 158,315,072 (GRCm39)	H1146Q	probably benign	Het
Raph1	T	A	1: 60,528,753 (GRCm39)	Q836L	unknown	Het
Rcc1	A	G	4: 132,062,074 (GRCm39)	S280P	probably damaging	Het
Recql	T	C	6: 142,320,617 (GRCm39)	M144V	possibly damaging	Het
Rela	T	C	19: 5,695,368 (GRCm39)	I298T	probably damaging	Het
Rfc1	T	A	5: 65,431,774 (GRCm39)	I792F		Het
Rnf31	A	G	14: 55,833,609 (GRCm39)	E539G		Het
Rrp9	T	C	9: 106,360,840 (GRCm39)	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Scmh1	A	G	4: 120,372,276 (GRCm39)	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,990,420 (GRCm39)		probably null	Het
Shisa9	T	C	16: 11,802,523 (GRCm39)	S27P	probably benign	Het
Slc17a4	A	G	13: 24,085,910 (GRCm39)	V359A	probably benign	Het
Slfn5	C	A	11: 82,850,885 (GRCm39)	A394E	probably benign	Het
Sun3	A	G	11: 8,988,281 (GRCm39)	F14L	probably benign	Het
Surf1	A	T	2: 26,804,808 (GRCm39)	D148E	possibly damaging	Het
Syne2	A	T	12: 76,141,844 (GRCm39)	K1388*	probably null	Het
Syne2	A	G	12: 76,067,275 (GRCm39)	K4325E	probably damaging	Het
Tacr1	A	G	6: 82,531,853 (GRCm39)	M250V	probably damaging	Het
Tenm2	T	C	11: 36,112,286 (GRCm39)	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,520,041 (GRCm39)	A282S	probably benign	Het
Tmf1	T	C	6: 97,155,866 (GRCm39)	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,895,491 (GRCm39)		probably null	Het
Unc80	C	A	1: 66,734,749 (GRCm39)	H3325Q	possibly damaging	Het
Vamp9	C	T	5: 100,070,952 (GRCm39)	P76S	probably damaging	Het
Zfp142	A	G	1: 74,609,016 (GRCm39)	L1593S	probably damaging	Het
Zfp869	T	A	8: 70,159,241 (GRCm39)	Y444F	probably benign	Het
Zscan10	G	A	17: 23,826,619 (GRCm39)		probably null	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
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
R9471:Clec4n	UTSW	6	123,221,505 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- ATCTTATTTGTCTCATCTCATGGTCA -3'
(R):5'- GGGAAACTGATCAAAGAGCATTAT -3'

Sequencing Primer
(F):5'- GGTCAAACTTCTTGTTCATGTCACAG -3'
(R):5'- ATGAGTCTTGAGGACATCATGC -3'

Posted On

2022-06-15