Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03071:Clec2d'

417501

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 #

IGL03071

Quality Score

Status

Chromosome

Chromosomal Location

129157578-129163497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129160165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 60 (S60P)

Ref Sequence

ENSEMBL: ENSMUSP00000032260 (fasta)

Gene Model

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

AlphaFold

Q91V08

Predicted Effect

probably benign
Transcript: ENSMUST00000032260
AA Change: S60P

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032260
Gene: ENSMUSG00000030157
AA Change: S60P

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 41,278,104 (GRCm39)	L165H	probably benign	Het
Ahnak	T	C	19: 8,989,282 (GRCm39)	I3522T	possibly damaging	Het
Anks1	G	A	17: 28,227,173 (GRCm39)	A609T	probably benign	Het
Apaf1	T	C	10: 90,833,117 (GRCm39)	D1138G	possibly damaging	Het
Appl2	T	C	10: 83,476,970 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,313 (GRCm39)	I385F	possibly damaging	Het
Cby3	A	G	11: 50,250,343 (GRCm39)	D183G	probably damaging	Het
Ccdc134	G	A	15: 82,018,826 (GRCm39)	V119M	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Cts6	A	T	13: 61,350,064 (GRCm39)	F6I	probably damaging	Het
Cyyr1	G	A	16: 85,262,449 (GRCm39)	H103Y	probably damaging	Het
Dop1a	T	A	9: 86,371,668 (GRCm39)	S120T	possibly damaging	Het
Dot1l	T	C	10: 80,624,513 (GRCm39)	S994P	probably benign	Het
Eya4	T	G	10: 23,198,971 (GRCm39)	D3A	probably benign	Het
Fhip2b	A	G	14: 70,823,649 (GRCm39)	C574R	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gria1	A	T	11: 56,902,936 (GRCm39)		probably null	Het
Hectd1	T	C	12: 51,815,957 (GRCm39)	T1377A	probably benign	Het
Magi3	T	G	3: 103,923,202 (GRCm39)	K1172Q	possibly damaging	Het
Map3k1	A	C	13: 111,892,059 (GRCm39)	D1065E	possibly damaging	Het
Mindy4b-ps	A	T	3: 58,717,158 (GRCm39)	V242D	probably damaging	Het
Mrgpra3	T	C	7: 47,238,929 (GRCm39)		probably benign	Het
Mroh9	C	A	1: 162,866,766 (GRCm39)	G657C	probably damaging	Het
Ogfod1	T	C	8: 94,784,395 (GRCm39)	W318R	probably damaging	Het
Or10j5	A	G	1: 172,784,502 (GRCm39)	T47A	probably benign	Het
Pacsin3	G	A	2: 91,090,837 (GRCm39)	R48H	probably damaging	Het
Plcb1	A	G	2: 135,229,722 (GRCm39)	E1114G	probably damaging	Het
Prkdc	T	G	16: 15,617,848 (GRCm39)	D3226E	probably benign	Het
Prl4a1	A	T	13: 28,204,246 (GRCm39)	E96V	probably benign	Het
Robo4	T	C	9: 37,315,580 (GRCm39)		probably benign	Het
Scn7a	G	A	2: 66,530,291 (GRCm39)	L685F	possibly damaging	Het
Spata1	A	G	3: 146,181,089 (GRCm39)	Y290H	possibly damaging	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tifa	T	G	3: 127,590,728 (GRCm39)	Y166*	probably null	Het
Tnfsf10	G	A	3: 27,389,769 (GRCm39)	D277N	probably damaging	Het
Tram1	A	T	1: 13,649,998 (GRCm39)	Y75*	probably null	Het
Vmn1r60	T	A	7: 5,547,368 (GRCm39)	N244I	probably damaging	Het
Xpo4	A	G	14: 57,855,685 (GRCm39)	I248T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,589,182 (GRCm39)		probably benign	Het
Zfp386	T	A	12: 116,022,760 (GRCm39)	H124Q	probably benign	Het

Other mutations in Clec2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Clec2d	APN	6	129,161,185 (GRCm39)	missense	probably damaging	1.00
IGL01984:Clec2d	APN	6	129,161,192 (GRCm39)	missense	possibly damaging	0.89
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

2016-08-02