Mutagenetix > Incidental Mutation

Incidental Mutation 'R1065:Clec2m'

85961

Institutional Source

Beutler Lab

Gene Symbol

Clec2m

Ensembl Gene

ENSMUSG00000047720

Gene Name

C-type lectin domain family 2, member m

Synonyms

4922502D21Rik

MMRRC Submission

039151-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1065 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129299127-129308759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129300013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 155 (I155T)

Ref Sequence

ENSEMBL: ENSMUSP00000062024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051283]

AlphaFold

Q8C634

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051283
AA Change: I155T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062024
Gene: ENSMUSG00000047720
AA Change: I155T

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
CLECT	71	183	1.32e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203159

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd300ld2	T	C	11: 114,904,586 (GRCm39)	T94A	probably damaging	Het
Cdc42bpg	G	A	19: 6,372,856 (GRCm39)	S1515N	probably damaging	Het
Ckb	T	C	12: 111,637,681 (GRCm39)	E150G	probably benign	Het
Cobl	T	A	11: 12,204,327 (GRCm39)	M785L	possibly damaging	Het
Col6a5	T	C	9: 105,758,982 (GRCm39)	N2075D	probably damaging	Het
Commd7	G	C	2: 153,461,447 (GRCm39)		probably benign	Het
Corin	G	A	5: 72,458,993 (GRCm39)	R927*	probably null	Het
Dync2i1	C	T	12: 116,219,696 (GRCm39)	R82H	probably damaging	Het
Ift122	A	T	6: 115,852,286 (GRCm39)		probably null	Het
Il1b	G	A	2: 129,209,927 (GRCm39)	T83I	probably benign	Het
Ints4	T	C	7: 97,157,099 (GRCm39)		probably null	Het
Msh6	T	G	17: 88,295,891 (GRCm39)		probably benign	Het
Mtmr3	T	C	11: 4,442,859 (GRCm39)	K392E	probably damaging	Het
Or5t9	A	G	2: 86,659,888 (GRCm39)	H264R	probably damaging	Het
Pde3a	T	C	6: 141,422,458 (GRCm39)		probably benign	Het
Pde6h	A	C	6: 136,936,368 (GRCm39)	K37T	probably damaging	Het
Plat	C	A	8: 23,266,879 (GRCm39)	D290E	probably damaging	Het
Polk	A	C	13: 96,644,760 (GRCm39)	L122R	probably damaging	Het
Ppp1r3g	T	A	13: 36,153,418 (GRCm39)	D279E	probably benign	Het
Ptpru	T	C	4: 131,535,651 (GRCm39)	E370G	possibly damaging	Het
Ralgapa2	T	C	2: 146,292,478 (GRCm39)	Y187C	probably benign	Het
Rps6ka2	C	T	17: 7,549,157 (GRCm39)		probably benign	Het
Slit3	T	C	11: 35,012,462 (GRCm39)	S41P	possibly damaging	Het
Smarca5	A	T	8: 81,431,343 (GRCm39)	L958Q	probably damaging	Het
Snx9	T	C	17: 5,952,636 (GRCm39)		probably benign	Het
Stkld1	A	T	2: 26,830,050 (GRCm39)	N72I	probably damaging	Het
Strc	C	A	2: 121,197,132 (GRCm39)	D1532Y	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Svil	T	G	18: 5,063,777 (GRCm39)		probably benign	Het
Traf3ip1	T	A	1: 91,428,506 (GRCm39)	D122E	unknown	Het
Vmn2r7	A	T	3: 64,614,559 (GRCm39)	D509E	possibly damaging	Het
Vps52	C	A	17: 34,180,213 (GRCm39)	Q306K	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp418	C	A	7: 7,184,561 (GRCm39)	Q175K	probably benign	Het
Zxdc	T	C	6: 90,355,885 (GRCm39)	S465P	probably damaging	Het

Other mutations in Clec2m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Clec2m	APN	6	129,303,725 (GRCm39)	missense	probably benign	0.00
IGL02298:Clec2m	APN	6	129,308,527 (GRCm39)	start codon destroyed	probably benign	0.09
IGL03350:Clec2m	APN	6	129,307,986 (GRCm39)	missense	probably benign	0.07
R0178:Clec2m	UTSW	6	129,303,786 (GRCm39)	missense	probably benign	0.01
R0270:Clec2m	UTSW	6	129,302,571 (GRCm39)	nonsense	probably null
R0414:Clec2m	UTSW	6	129,303,813 (GRCm39)	unclassified	probably benign
R0648:Clec2m	UTSW	6	129,307,932 (GRCm39)	missense	probably benign	0.03
R2075:Clec2m	UTSW	6	129,303,666 (GRCm39)	missense	probably benign	0.01
R6163:Clec2m	UTSW	6	129,303,710 (GRCm39)	missense	probably benign	0.00
R7092:Clec2m	UTSW	6	129,299,963 (GRCm39)	missense	probably benign	0.12
R7107:Clec2m	UTSW	6	129,299,915 (GRCm39)	missense	probably damaging	1.00
R7360:Clec2m	UTSW	6	129,303,710 (GRCm39)	missense	probably benign	0.00
R7369:Clec2m	UTSW	6	129,308,496 (GRCm39)	missense	possibly damaging	0.68
R7414:Clec2m	UTSW	6	129,302,596 (GRCm39)	missense	probably benign	0.17
R7937:Clec2m	UTSW	6	129,307,974 (GRCm39)	missense	possibly damaging	0.84
R8345:Clec2m	UTSW	6	129,302,593 (GRCm39)	missense	probably damaging	1.00
R8402:Clec2m	UTSW	6	129,300,007 (GRCm39)	missense	possibly damaging	0.94
R8814:Clec2m	UTSW	6	129,302,567 (GRCm39)	intron	probably benign
R8862:Clec2m	UTSW	6	129,308,494 (GRCm39)	missense	probably benign	0.00
X0026:Clec2m	UTSW	6	129,303,656 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGATGCAGCAGTACCACGCCAAG -3'
(R):5'- AGGAAACGCCAGTTATACTCTCCCC -3'

Sequencing Primer
(F):5'- ATTAGACTTAAAGTGATGTCGATGG -3'
(R):5'- GAATTTCATCCCTCTGTGAATGG -3'

Posted On

2013-11-18