Mutagenetix > Incidental Mutations

Incidental Mutation 'R4826:Clec2d'

374145

Institutional Source

Beutler Lab

Gene Symbol

Clec2d

Ensembl Gene

ENSMUSG00000030157

Gene Name

C-type lectin domain family 2, member d

Synonyms

Clr-b, Clrb, Ocil

MMRRC Submission

042442-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129180615-129186534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129184159 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 73 (V73A)

Ref Sequence

ENSEMBL: ENSMUSP00000032260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032260]

Predicted Effect

probably benign
Transcript: ENSMUST00000032260
AA Change: V73A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032260
Gene: ENSMUSG00000030157
AA Change: V73A

Domain	Start	End	E-Value	Type
low complexity region	51	66	N/A	INTRINSIC
CLECT	80	191	8.47e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183692

Meta Mutation Damage Score

0.0552

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

PHENOTYPE: Enhanced osteoclastic activity in the bone of homozygous null mice leads to osteopenia and high serum calcium levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	T	18: 12,185,779		probably benign	Het
Abca14	A	T	7: 120,216,247	R239S	probably damaging	Het
Acin1	A	G	14: 54,664,617	S573P	probably damaging	Het
Acta2	A	T	19: 34,251,823	Y55*	probably null	Het
Aifm2	T	C	10: 61,725,989	M38T	probably benign	Het
Ank2	C	A	3: 126,956,001	V460L	probably benign	Het
Ap1b1	T	C	11: 5,018,043	S185P	probably benign	Het
Arsj	A	G	3: 126,438,802	Y399C	probably damaging	Het
Cntln	T	G	4: 85,005,044	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,518,344	P8L	probably benign	Het
Dip2b	A	G	15: 100,169,281	N555D	probably damaging	Het
Dusp4	T	A	8: 34,818,517	F311I	probably damaging	Het
Eif4g3	T	C	4: 138,177,945	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,214,995	R23H	possibly damaging	Het
Ext2	T	C	2: 93,762,630	T410A	probably benign	Het
Fam193a	A	G	5: 34,436,531	E124G	probably damaging	Het
Fat4	T	A	3: 38,982,957	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,601,297	S611P	probably damaging	Het
Gcn1l1	A	G	5: 115,593,693	T956A	probably benign	Het
Gm10549	C	A	18: 33,470,785	T107K	unknown	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Herc6	T	A	6: 57,647,087	M614K	probably benign	Het
Hspg2	T	C	4: 137,565,395	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,576	I463T	possibly damaging	Het
Icam5	C	T	9: 21,037,803	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,701,353	D1366E	probably damaging	Het
Ints7	G	A	1: 191,611,906	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,763,275	I92F	probably damaging	Het
Itgb1	T	A	8: 128,720,308	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,743,308	M216V	probably benign	Het
Mgam	T	C	6: 40,680,648	V979A	possibly damaging	Het
Myh9	A	T	15: 77,788,946	Y400*	probably null	Het
Narfl	A	G	17: 25,780,332	H240R	probably damaging	Het
Nbeal1	A	G	1: 60,251,342	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,345,598		probably benign	Het
Nlrp1c-ps	A	G	11: 71,242,517		noncoding transcript	Het
Nt5c1a	T	C	4: 123,208,572	V97A	probably damaging	Het
Olfr1154	T	A	2: 87,903,349	D109V	probably damaging	Het
Olfr358	A	G	2: 37,005,333	Y94H	probably damaging	Het
Olfr43	A	G	11: 74,206,331	M295T	possibly damaging	Het
Olfr46	T	A	7: 140,610,319	M51K	probably benign	Het
Olfr683	G	T	7: 105,143,968	N108K	probably damaging	Het
Pde4a	T	A	9: 21,192,380		probably null	Het
Pkn2	T	C	3: 142,809,509	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,308,679	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,764,606	S73P	possibly damaging	Het
Prr27	A	C	5: 87,850,966		probably benign	Het
Rad54b	G	T	4: 11,599,753	W319L	probably damaging	Het
Rassf8	T	A	6: 145,816,550	L349H	probably damaging	Het
Rnf113a2	T	A	12: 84,417,614	N93K	probably benign	Het
Sapcd2	C	T	2: 25,372,756	A109V	probably benign	Het
Slamf9	C	A	1: 172,476,441	H118N	probably benign	Het
Slc37a1	A	G	17: 31,322,173	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,159,150	D580G	probably benign	Het
Slc7a2	T	A	8: 40,911,046	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,689,837	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,535,115	P391L	unknown	Het
Tdrd12	A	C	7: 35,504,157	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,380,773	L246S	probably benign	Het

Other mutations in Clec2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Clec2d	APN	6	129184222	missense	probably damaging	1.00
IGL01984:Clec2d	APN	6	129184229	missense	possibly damaging	0.89
IGL03071:Clec2d	APN	6	129183202	missense	probably benign	0.30
R0626:Clec2d	UTSW	6	129183127	missense	probably damaging	0.98
R0900:Clec2d	UTSW	6	129183113	missense	probably benign	0.00
R2077:Clec2d	UTSW	6	129183190	missense	possibly damaging	0.80
R2200:Clec2d	UTSW	6	129184868	missense	possibly damaging	0.80
R2227:Clec2d	UTSW	6	129184251	missense	probably benign	0.44
R5040:Clec2d	UTSW	6	129184830	missense	probably damaging	1.00
R6763:Clec2d	UTSW	6	129184144	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACTGACAGTGAGCACCTGAG -3'
(R):5'- CCTCAGGCCTCATCTGTAAC -3'

Sequencing Primer
(F):5'- CAGTGAGCACCTGAGAGAGAATG -3'
(R):5'- ATCTGTAACTCTCTATCTCAAGGC -3'

Posted On

2016-03-01