Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03081:Clec2i'

417846

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec2i

Ensembl Gene

ENSMUSG00000030365

Gene Name

C-type lectin domain family 2, member i

Synonyms

Clrg, OCILrP2, Dcl1, Clr-g

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03081

Quality Score

Status

Chromosome

Chromosomal Location

128864551-128875130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128871728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 113 (Y113F)

Ref Sequence

ENSEMBL: ENSMUSP00000123804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032519] [ENSMUST00000159866] [ENSMUST00000160290] [ENSMUST00000160867] [ENSMUST00000162666] [ENSMUST00000178918]

AlphaFold

Q9WVF9

PDB Structure

Mouse C-type lectin-related protein Clrg [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032519
AA Change: Y109F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032519
Gene: ENSMUSG00000030365
AA Change: Y109F

Domain	Start	End	E-Value	Type
transmembrane domain	54	76	N/A	INTRINSIC
CLECT	92	203	3.78e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159080

Predicted Effect

probably damaging
Transcript: ENSMUST00000159866
AA Change: Y113F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123804
Gene: ENSMUSG00000030365
AA Change: Y113F

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
CLECT	96	207	3.78e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160290

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160867
AA Change: Y48F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145115
Gene: ENSMUSG00000030365
AA Change: Y48F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CLECT	31	142	1.9e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162666
AA Change: Y138F

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124910
Gene: ENSMUSG00000030365
AA Change: Y138F

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
CLECT	121	232	3.78e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178918

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	C	A	19: 43,770,841 (GRCm39)		probably benign	Het
Acan	T	G	7: 78,748,291 (GRCm39)	S1021A	probably benign	Het
Adamts6	A	G	13: 104,581,464 (GRCm39)		probably benign	Het
Apc2	A	G	10: 80,148,086 (GRCm39)	K1018E	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Atp2b1	T	C	10: 98,830,675 (GRCm39)		probably benign	Het
Cct6b	A	T	11: 82,654,995 (GRCm39)	L20*	probably null	Het
Cd300ld2	G	A	11: 114,903,368 (GRCm39)		probably benign	Het
Cdc23	T	G	18: 34,769,757 (GRCm39)	K454T	probably damaging	Het
Cdh20	A	T	1: 104,868,982 (GRCm39)	I158F	probably damaging	Het
Cdk14	C	T	5: 4,999,527 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,458 (GRCm39)	S239T	probably damaging	Het
Dnah8	T	C	17: 30,905,347 (GRCm39)		probably benign	Het
Exoc2	A	G	13: 31,084,885 (GRCm39)	Y359H	probably benign	Het
Eya1	A	T	1: 14,253,415 (GRCm39)	F520L	possibly damaging	Het
Fgfr1op2	A	T	6: 146,498,817 (GRCm39)	I217F	probably damaging	Het
Gm12258	A	G	11: 58,749,085 (GRCm39)	N87D	probably benign	Het
Gp6	A	G	7: 4,374,647 (GRCm39)	S225P	probably benign	Het
Hdac7	T	C	15: 97,696,187 (GRCm39)	Y619C	probably damaging	Het
Lars1	A	G	18: 42,343,156 (GRCm39)	I1087T	probably benign	Het
Lrrc37a	G	T	11: 103,347,421 (GRCm39)	H3091Q	unknown	Het
Mcm3ap	T	C	10: 76,306,150 (GRCm39)	S88P	possibly damaging	Het
Mrps23	G	A	11: 88,101,043 (GRCm39)	R117Q	probably benign	Het
Nbea	T	C	3: 55,987,339 (GRCm39)	S384G	probably damaging	Het
Ndufs4	A	T	13: 114,444,373 (GRCm39)	I135N	possibly damaging	Het
Noto	T	C	6: 85,401,091 (GRCm39)	F40S	probably damaging	Het
Nr5a1	A	T	2: 38,600,544 (GRCm39)	V41D	possibly damaging	Het
Or8b50	C	T	9: 38,518,166 (GRCm39)	A135V	probably benign	Het
Papola	T	A	12: 105,785,114 (GRCm39)	H415Q	probably damaging	Het
Pcm1	C	T	8: 41,728,097 (GRCm39)	T557I	probably damaging	Het
Pde11a	A	T	2: 75,906,274 (GRCm39)		probably benign	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Pygm	T	C	19: 6,438,851 (GRCm39)	S226P	possibly damaging	Het
Rnf17	T	A	14: 56,671,828 (GRCm39)	S273R	probably benign	Het
Scamp2	T	C	9: 57,494,410 (GRCm39)	V261A	possibly damaging	Het
Slc7a12	T	A	3: 14,546,315 (GRCm39)	F153L	probably benign	Het
Smchd1	A	T	17: 71,667,186 (GRCm39)	D1735E	probably damaging	Het
Stk40	A	G	4: 126,017,507 (GRCm39)		probably null	Het
Tas2r124	C	T	6: 132,732,497 (GRCm39)	L269F	possibly damaging	Het
Tmem260	A	C	14: 48,733,750 (GRCm39)	I216L	probably benign	Het
Ubr1	C	A	2: 120,791,637 (GRCm39)	A116S	possibly damaging	Het
Unc13a	T	C	8: 72,102,193 (GRCm39)	K991R	probably damaging	Het
Vmn2r66	T	C	7: 84,657,138 (GRCm39)	Y89C	probably benign	Het
Vps13b	A	C	15: 35,875,966 (GRCm39)	I2784L	probably damaging	Het
Zbtb26	T	A	2: 37,326,612 (GRCm39)	K141N	possibly damaging	Het
Zranb1	T	A	7: 132,552,126 (GRCm39)	M259K	probably damaging	Het

Other mutations in Clec2i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02618:Clec2i	APN	6	128,873,464 (GRCm39)	missense	probably damaging	1.00
R0464:Clec2i	UTSW	6	128,872,386 (GRCm39)	missense	probably damaging	1.00
R0508:Clec2i	UTSW	6	128,870,663 (GRCm39)	missense	probably damaging	1.00
R1763:Clec2i	UTSW	6	128,872,388 (GRCm39)	nonsense	probably null
R1779:Clec2i	UTSW	6	128,865,069 (GRCm39)	critical splice donor site	probably null
R5020:Clec2i	UTSW	6	128,870,621 (GRCm39)	missense	probably benign	0.00
R6035:Clec2i	UTSW	6	128,870,587 (GRCm39)	missense	probably benign	0.01
R6035:Clec2i	UTSW	6	128,870,587 (GRCm39)	missense	probably benign	0.01
R6522:Clec2i	UTSW	6	128,870,692 (GRCm39)	missense	probably damaging	0.96
R6804:Clec2i	UTSW	6	128,872,384 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02