Mutagenetix > Incidental Mutation

Incidental Mutation 'R9567:Clec1b'

721680

Institutional Source

Beutler Lab

Gene Symbol

Clec1b

Ensembl Gene

ENSMUSG00000030159

Gene Name

C-type lectin domain family 1, member b

Synonyms

Clec-2, 1810061I13Rik, Clec2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129374260-129382376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129382201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 226 (D226V)

Ref Sequence

ENSEMBL: ENSMUSP00000032262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032262] [ENSMUST00000058352] [ENSMUST00000088075] [ENSMUST00000112079] [ENSMUST00000112081] [ENSMUST00000164513] [ENSMUST00000204860]

AlphaFold

Q9JL99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032262
AA Change: D226V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032262
Gene: ENSMUSG00000030159
AA Change: D226V

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
CLECT	102	217	1.59e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000058352

SMART Domains

Protein: ENSMUSP00000056625
Gene: ENSMUSG00000046080

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
CLECT	137	256	8.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088075

SMART Domains

Protein: ENSMUSP00000085394
Gene: ENSMUSG00000046080

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
CLECT	111	230	8.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112079

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112081
AA Change: D194V

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107712
Gene: ENSMUSG00000030159
AA Change: D194V

Domain	Start	End	E-Value	Type
CLECT	70	185	1.59e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164513

SMART Domains

Protein: ENSMUSP00000128622
Gene: ENSMUSG00000046080

Domain	Start	End	E-Value	Type
CLECT	110	229	8.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204860

SMART Domains

Protein: ENSMUSP00000144990
Gene: ENSMUSG00000046080

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit congestion and hemorrhages during embryogenesis with prenatal and postnatal lethality. Mice homozygous for another knock-out allele exhibit blood-lymph mixing, impaired PDPN-Fc-mediated platelet activation, and intestinal edema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,602,793 (GRCm39)	P52S	probably damaging	Het
6820408C15Rik	C	A	2: 152,270,867 (GRCm39)	P30Q	probably damaging	Het
Adam18	C	T	8: 25,118,210 (GRCm39)	V569I	probably benign	Het
Adnp2	A	T	18: 80,174,133 (GRCm39)	L92Q	probably damaging	Het
Ahi1	C	T	10: 20,857,300 (GRCm39)	H632Y	possibly damaging	Het
Akap9	A	G	5: 4,127,311 (GRCm39)	N3720D	possibly damaging	Het
Alpk3	T	C	7: 80,742,687 (GRCm39)	S835P	possibly damaging	Het
Amer3	C	T	1: 34,627,836 (GRCm39)	L692F	probably benign	Het
Anks6	T	A	4: 47,044,880 (GRCm39)	D342V	unknown	Het
Arap2	G	T	5: 62,761,841 (GRCm39)	F1628L	probably benign	Het
Arhgap21	T	G	2: 20,896,953 (GRCm39)	I108L	possibly damaging	Het
Cacna1h	T	C	17: 25,612,487 (GRCm39)	I404V	probably damaging	Het
Cacna2d3	G	T	14: 28,627,268 (GRCm39)	A1077E	probably benign	Het
Cacng6	T	C	7: 3,483,281 (GRCm39)	V203A	probably benign	Het
Crb1	A	C	1: 139,171,208 (GRCm39)	S727R	probably benign	Het
Dars1	T	C	1: 128,343,112 (GRCm39)	I35V		Het
Ddo	T	A	10: 40,523,913 (GRCm39)	V301D	probably damaging	Het
Diablo	C	A	5: 123,662,196 (GRCm39)		probably benign	Het
Dipk1a	T	A	5: 108,057,368 (GRCm39)	K397*	probably null	Het
Dnhd1	C	A	7: 105,353,473 (GRCm39)	H2875Q	probably benign	Het
E230025N22Rik	A	G	18: 36,820,336 (GRCm39)	L282P		Het
Ebna1bp2	A	G	4: 118,478,190 (GRCm39)	Q21R	probably benign	Het
Exoc7	C	T	11: 116,195,724 (GRCm39)	V93I	probably benign	Het
Foxk1	T	A	5: 142,387,713 (GRCm39)	Y145*	probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fsip2	C	T	2: 82,798,173 (GRCm39)	T489M	probably benign	Het
Gbf1	C	T	19: 46,260,046 (GRCm39)	T1067I		Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Guf1	T	A	5: 69,721,951 (GRCm39)	V370E	possibly damaging	Het
Hmg20a	A	G	9: 56,384,472 (GRCm39)	S81G	probably benign	Het
Igf2r	G	A	17: 12,905,641 (GRCm39)	T2230I	probably damaging	Het
Ighmbp2	A	T	19: 3,332,785 (GRCm39)	M1K	probably null	Het
Klhdc9	T	C	1: 171,187,914 (GRCm39)	T106A	probably benign	Het
Kti12	T	C	4: 108,705,935 (GRCm39)	M283T	possibly damaging	Het
Lrig3	C	T	10: 125,845,964 (GRCm39)	P798S	probably benign	Het
Lrp8	T	C	4: 107,711,469 (GRCm39)	F333L	probably damaging	Het
Lyn	T	A	4: 3,746,757 (GRCm39)	D178E	probably benign	Het
Magi1	G	A	6: 93,655,431 (GRCm39)	A1405V	probably damaging	Het
Magi1	A	C	6: 93,659,931 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,076,569 (GRCm39)	P68S	probably damaging	Het
Mfsd8	T	C	3: 40,793,933 (GRCm39)	S25G	probably benign	Het
Mgat1	C	A	11: 49,152,694 (GRCm39)	S392R	probably benign	Het
Mtmr2	C	T	9: 13,713,301 (GRCm39)	Q493*	probably null	Het
Myocd	A	T	11: 65,078,410 (GRCm39)	S462T	probably damaging	Het
Ndnf	A	G	6: 65,681,164 (GRCm39)	Y481C	probably damaging	Het
Neb	G	T	2: 52,065,138 (GRCm39)	R6258S	probably damaging	Het
Nlrp4c	A	G	7: 6,063,624 (GRCm39)	M11V	probably benign	Het
Nup93	T	C	8: 95,035,604 (GRCm39)	S658P	possibly damaging	Het
Obox2	T	A	7: 15,130,771 (GRCm39)	M1K	probably null	Het
Or10ag55-ps1	T	A	2: 87,115,037 (GRCm39)	Y134*	probably null	Het
Or10g9	T	A	9: 39,912,367 (GRCm39)	H52L	possibly damaging	Het
Or1e20-ps1	G	T	11: 73,324,789 (GRCm39)	H88N	unknown	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Pcdh18	T	A	3: 49,710,884 (GRCm39)	I144F	possibly damaging	Het
Pcdhgb5	C	T	18: 37,864,982 (GRCm39)	T259I	probably damaging	Het
Pclo	A	G	5: 14,763,436 (GRCm39)	T685A		Het
Pecam1	T	C	11: 106,588,121 (GRCm39)	T139A	possibly damaging	Het
Pi15	T	A	1: 17,695,178 (GRCm39)	L265Q	probably damaging	Het
Pkd1l3	T	A	8: 110,394,173 (GRCm39)	F2053L	probably damaging	Het
Ppp1r36	A	G	12: 76,485,900 (GRCm39)	I353V	probably benign	Het
Ppp1r9a	A	G	6: 5,157,004 (GRCm39)	S961G	probably benign	Het
Rbm42	T	C	7: 30,345,395 (GRCm39)	R151G	possibly damaging	Het
Rnf224	T	C	2: 25,126,354 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Slc17a5	T	A	9: 78,445,562 (GRCm39)	Q457L	possibly damaging	Het
Slc5a4a	A	T	10: 76,022,396 (GRCm39)	D577V	probably benign	Het
Stim2	A	G	5: 54,232,707 (GRCm39)	D123G	probably damaging	Het
Stxbp5l	A	G	16: 37,061,734 (GRCm39)	F359L	probably benign	Het
Syne1	T	C	10: 5,196,386 (GRCm39)	D3882G	possibly damaging	Het
Synj1	G	T	16: 90,790,912 (GRCm39)	S83Y	possibly damaging	Het
Tfip11	C	T	5: 112,479,029 (GRCm39)	T199I	probably damaging	Het
Thoc2l	T	A	5: 104,669,644 (GRCm39)	S1389T	probably benign	Het
Tiam1	T	A	16: 89,591,653 (GRCm39)	D1349V	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ucn3	T	A	13: 3,991,313 (GRCm39)	D113V	probably damaging	Het
Ugt3a1	A	G	15: 9,306,370 (GRCm39)	D173G	possibly damaging	Het
Uimc1	C	A	13: 55,188,427 (GRCm39)	R544L	possibly damaging	Het
Unc13c	T	C	9: 73,536,485 (GRCm39)	S1623G	probably damaging	Het
Vmn2r41	T	C	7: 8,141,391 (GRCm39)	N691S	probably benign	Het
Wdr24	T	A	17: 26,043,190 (GRCm39)	M4K	probably damaging	Het
Wdr48	T	C	9: 119,741,454 (GRCm39)	F332L	probably benign	Het
Xpo7	A	G	14: 70,903,466 (GRCm39)	V1080A	probably benign	Het
Zc3h3	A	T	15: 75,651,261 (GRCm39)	I653N	probably damaging	Het
Zfp1005	A	T	2: 150,109,517 (GRCm39)	H69L	possibly damaging	Het
Zfp362	T	A	4: 128,688,681 (GRCm39)	M1L	unknown	Het
Zfp503	A	G	14: 22,036,041 (GRCm39)	C292R	possibly damaging	Het

Other mutations in Clec1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01785:Clec1b	APN	6	129,380,525 (GRCm39)	missense	probably damaging	1.00
IGL01950:Clec1b	APN	6	129,377,043 (GRCm39)	missense	probably damaging	1.00
IGL02288:Clec1b	APN	6	129,374,586 (GRCm39)	missense	probably damaging	1.00
IGL02411:Clec1b	APN	6	129,378,804 (GRCm39)	missense	probably damaging	1.00
R0471:Clec1b	UTSW	6	129,378,570 (GRCm39)	splice site	probably benign
R4028:Clec1b	UTSW	6	129,378,774 (GRCm39)	missense	probably benign
R4674:Clec1b	UTSW	6	129,377,097 (GRCm39)	missense	probably damaging	0.99
R6211:Clec1b	UTSW	6	129,378,440 (GRCm39)	missense	possibly damaging	0.78
R8777:Clec1b	UTSW	6	129,380,537 (GRCm39)	missense	probably benign	0.05
R8777-TAIL:Clec1b	UTSW	6	129,380,537 (GRCm39)	missense	probably benign	0.05
R8887:Clec1b	UTSW	6	129,378,703 (GRCm39)	critical splice acceptor site	probably null
R8915:Clec1b	UTSW	6	129,382,212 (GRCm39)	makesense	probably null
R8979:Clec1b	UTSW	6	129,380,537 (GRCm39)	missense	probably benign
R9546:Clec1b	UTSW	6	129,382,167 (GRCm39)	missense	probably benign	0.01
R9717:Clec1b	UTSW	6	129,374,603 (GRCm39)	missense	probably benign	0.20
R9740:Clec1b	UTSW	6	129,380,549 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAAAACACTCATGTCCTTTGCTTC -3'
(R):5'- TGGAAAAGCTAGAGATCTACTGAC -3'

Sequencing Primer
(F):5'- ATGTCCTTTGCTTCCTTGTCTATTTG -3'
(R):5'- GCTAGAGATCTACTGACATGCTG -3'

Posted On

2022-08-09