Mutagenetix > Incidental Mutations

Incidental Mutation 'R4018:Cd300ld2'

312030

Institutional Source

Beutler Lab

Gene Symbol

Cd300ld2

Ensembl Gene

ENSMUSG00000089753

Gene Name

CD300 molecule like family member D2

Synonyms

Gm11709

MMRRC Submission

040848-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115010335-115016193 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 115012504 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092463] [ENSMUST00000106578]

Predicted Effect

probably benign
Transcript: ENSMUST00000092463

SMART Domains

Protein: ENSMUSP00000090120
Gene: ENSMUSG00000089753

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	25	124	2.11e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000106578
AA Change: P172T

SMART Domains

Protein: ENSMUSP00000102188
Gene: ENSMUSG00000089753
AA Change: P172T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	25	124	2.11e-2	SMART
low complexity region	131	201	N/A	INTRINSIC
low complexity region	202	222	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 92.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	A	G	8: 53,523,191	K319R	probably benign	Het
Brip1	G	T	11: 86,138,851	T619K	possibly damaging	Het
Cd300lg	A	G	11: 102,041,594	R2G	probably damaging	Het
Celsr2	C	T	3: 108,394,965	V2616I	possibly damaging	Het
Edem3	C	T	1: 151,804,826		probably benign	Het
Endou	T	A	15: 97,718,937	K235M	probably damaging	Het
Gm5431	T	A	11: 48,889,168	N309I	probably damaging	Het
Il4	T	A	11: 53,613,979		probably benign	Het
Iws1	C	A	18: 32,070,152	S27*	probably null	Het
Kdm5d	T	C	Y: 910,441		probably benign	Het
Ldb3	T	C	14: 34,552,171		probably benign	Het
Llgl2	A	G	11: 115,847,612	T284A	probably benign	Het
Maml1	A	T	11: 50,265,784	N521K	probably damaging	Het
Mlxipl	T	C	5: 135,132,672	Y482H	probably damaging	Het
Notch2	G	T	3: 98,104,565	C633F	probably damaging	Het
Oc90	T	C	15: 65,887,608	D232G	probably benign	Het
Olfr1453	T	C	19: 13,027,825	E168G	probably benign	Het
Polr2a	T	C	11: 69,735,059	Y1717C	unknown	Het
Prkca	T	A	11: 107,939,602	I221F	probably damaging	Het
Rab3c	T	A	13: 110,084,194	K144N	probably damaging	Het
Ryr2	T	A	13: 11,918,414	N57I	probably damaging	Het
Scyl3	A	G	1: 163,936,499	T145A	possibly damaging	Het
Sept4	G	A	11: 87,585,121	R162Q	probably damaging	Het
Slc25a39	A	T	11: 102,405,024	L127H	probably damaging	Het
Slc9a9	T	C	9: 94,685,163	V95A	probably benign	Het
Tsc2	T	C	17: 24,625,281	I279V	probably damaging	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r6	T	C	3: 64,556,472	I314V	probably benign	Het
Wdr66	A	G	5: 123,322,454	I1160V	probably benign	Het

Other mutations in Cd300ld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Cd300ld2	APN	11	115012297	missense	probably benign	0.23
IGL01450:Cd300ld2	APN	11	115012543	unclassified	probably benign
IGL01452:Cd300ld2	APN	11	115012602	unclassified	probably benign
IGL02086:Cd300ld2	APN	11	115012558	unclassified	probably benign
IGL02111:Cd300ld2	APN	11	115012393	unclassified	probably benign
IGL02505:Cd300ld2	APN	11	115013687	missense	probably benign	0.11
IGL02517:Cd300ld2	APN	11	115010423	missense	possibly damaging	0.53
IGL02836:Cd300ld2	APN	11	115013750	missense	probably benign	0.07
IGL03081:Cd300ld2	APN	11	115012542	unclassified	probably benign
PIT4486001:Cd300ld2	UTSW	11	115012431	small deletion	probably benign
R0579:Cd300ld2	UTSW	11	115012299	missense	probably benign	0.23
R1065:Cd300ld2	UTSW	11	115013760	missense	probably damaging	1.00
R1393:Cd300ld2	UTSW	11	115012578	unclassified	probably benign
R1481:Cd300ld2	UTSW	11	115012633	missense	probably benign	0.36
R1583:Cd300ld2	UTSW	11	115013777	missense	probably benign	0.06
R1755:Cd300ld2	UTSW	11	115013775	missense	probably benign	0.01
R1865:Cd300ld2	UTSW	11	115012618	unclassified	probably benign
R5516:Cd300ld2	UTSW	11	115012444	unclassified	probably benign
R6065:Cd300ld2	UTSW	11	115012602	unclassified	probably benign
R6927:Cd300ld2	UTSW	11	115013793	missense	probably damaging	1.00
R7874:Cd300ld2	UTSW	11	115012431	small deletion	probably benign
R7883:Cd300ld2	UTSW	11	115012431	small deletion	probably benign
R8044:Cd300ld2	UTSW	11	115013719	nonsense	probably null
R8263:Cd300ld2	UTSW	11	115012366	missense	unknown
R8306:Cd300ld2	UTSW	11	115013822	missense	probably benign	0.04
R8424:Cd300ld2	UTSW	11	115012431	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCAATGCTCTCCATGGTTG -3'
(R):5'- TCGAGCTCCTTAATTCCTAGGG -3'

Sequencing Primer
(F):5'- CAATGCTCTCCATGGTTGGTGTTG -3'
(R):5'- TTCCTAGGGAAAGAACTTTAGGCC -3'

Posted On

2015-04-29