Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01691:Clec2d'

104108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec2d

Ensembl Gene

ENSMUSG00000030157

Gene Name

C-type lectin domain family 2, member d

Synonyms

Clr-b, Clrb, Ocil

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01691

Quality Score

Status

Chromosome

Chromosomal Location

129157578-129163497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129161185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 94 (F94S)

Ref Sequence

ENSEMBL: ENSMUSP00000032260 (fasta)

Gene Model

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

AlphaFold

Q91V08

Predicted Effect

probably damaging
Transcript: ENSMUST00000032260
AA Change: F94S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032260
Gene: ENSMUSG00000030157
AA Change: F94S

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

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	T	A	3: 32,774,349 (GRCm39)	M282K	possibly damaging	Het
Adam22	T	C	5: 8,142,742 (GRCm39)	N831S	probably damaging	Het
Adamdec1	C	T	14: 68,810,556 (GRCm39)	R200Q	probably damaging	Het
Asb15	A	G	6: 24,567,271 (GRCm39)	I531V	probably benign	Het
Btrc	T	A	19: 45,501,117 (GRCm39)	D223E	probably benign	Het
Ccdc30	T	A	4: 119,250,761 (GRCm39)	E161V	probably damaging	Het
Cd38	G	A	5: 44,060,928 (GRCm39)		probably benign	Het
Cwf19l1	C	T	19: 44,109,311 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,430,269 (GRCm39)	N96K	probably benign	Het
Ephb6	G	A	6: 41,591,449 (GRCm39)	R202H	probably benign	Het
Gm43191	T	A	3: 116,471,616 (GRCm39)	I218L	probably benign	Het
Gm7168	G	A	17: 14,169,140 (GRCm39)	S169N	probably damaging	Het
Gm7964	T	C	7: 83,405,344 (GRCm39)		noncoding transcript	Het
Kif20b	T	C	19: 34,913,143 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,702,089 (GRCm39)	T906A	probably benign	Het
Mboat2	A	G	12: 25,004,221 (GRCm39)	N341D	probably damaging	Het
Msh6	T	C	17: 88,292,907 (GRCm39)	V554A	probably benign	Het
Ndc80	T	C	17: 71,815,634 (GRCm39)	T384A	possibly damaging	Het
Or1af1	G	T	2: 37,110,038 (GRCm39)	C179F	probably damaging	Het
Or8g18	G	A	9: 39,149,315 (GRCm39)	T135I	probably benign	Het
Ptpn5	G	T	7: 46,732,906 (GRCm39)	H312Q	probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rgs20	T	C	1: 4,987,145 (GRCm39)	T124A	probably benign	Het
Sox18	T	C	2: 181,313,143 (GRCm39)	S58G	possibly damaging	Het
Togaram2	A	G	17: 72,036,485 (GRCm39)	M1012V	probably null	Het
Usp48	A	T	4: 137,350,583 (GRCm39)		probably null	Het

Other mutations in Clec2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Clec2d	APN	6	129,161,192 (GRCm39)	missense	possibly damaging	0.89
IGL03071:Clec2d	APN	6	129,160,165 (GRCm39)	missense	probably benign	0.30
R0626:Clec2d	UTSW	6	129,160,090 (GRCm39)	missense	probably damaging	0.98
R0900:Clec2d	UTSW	6	129,160,076 (GRCm39)	missense	probably benign	0.00
R2077:Clec2d	UTSW	6	129,160,153 (GRCm39)	missense	possibly damaging	0.80
R2200:Clec2d	UTSW	6	129,161,831 (GRCm39)	missense	possibly damaging	0.80
R2227:Clec2d	UTSW	6	129,161,214 (GRCm39)	missense	probably benign	0.44
R4826:Clec2d	UTSW	6	129,161,122 (GRCm39)	missense	probably benign	0.00
R5040:Clec2d	UTSW	6	129,161,793 (GRCm39)	missense	probably damaging	1.00
R6763:Clec2d	UTSW	6	129,161,107 (GRCm39)	missense	probably benign	0.06
R8121:Clec2d	UTSW	6	129,161,847 (GRCm39)	missense	probably benign	0.04

Posted On

2014-01-21