Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01012:Cd300ld2'

53862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd300ld2

Ensembl Gene

ENSMUSG00000089753

Gene Name

CD300 molecule like family member D2

Synonyms

Gm11709

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

114901161-114907019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114903123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 241 (I241F)

Ref Sequence

ENSEMBL: ENSMUSP00000102188 (fasta)

Gene Model

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

AlphaFold

A2A7W0

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

probably benign
Transcript: ENSMUST00000106578
AA Change: I241F

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102188
Gene: ENSMUSG00000089753
AA Change: I241F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,972,772 (GRCm39)	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,260,426 (GRCm39)	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,918,693 (GRCm39)	E30G	probably damaging	Het
Aqp9	A	G	9: 71,037,831 (GRCm39)		probably benign	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Arhgef10	T	C	8: 15,029,977 (GRCm39)	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,514,749 (GRCm39)	I22T	probably damaging	Het
AY074887	C	T	9: 54,857,963 (GRCm39)		probably benign	Het
Bcl2l15	T	A	3: 103,740,730 (GRCm39)	D65E	probably damaging	Het
C2cd6	A	T	1: 59,036,507 (GRCm39)		probably benign	Het
Ccdc138	G	A	10: 58,376,737 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,904,838 (GRCm39)	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cep192	T	A	18: 67,945,477 (GRCm39)	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,967,341 (GRCm39)	K3174R	probably benign	Het
Dpy30	A	T	17: 74,614,749 (GRCm39)	L65I	probably damaging	Het
Eci2	A	T	13: 35,174,312 (GRCm39)	L83*	probably null	Het
F7	A	T	8: 13,083,409 (GRCm39)	E183V	probably damaging	Het
Gabrg1	T	C	5: 70,935,512 (GRCm39)	K214R	probably benign	Het
Galr2	A	T	11: 116,173,996 (GRCm39)	T209S	probably damaging	Het
Gimap9	T	C	6: 48,654,851 (GRCm39)		probably null	Het
Gip	C	A	11: 95,916,285 (GRCm39)	F28L	probably benign	Het
Gpd2	A	G	2: 57,254,542 (GRCm39)	N662S	probably benign	Het
Grik2	T	G	10: 49,149,052 (GRCm39)	D511A	probably damaging	Het
Ift122	T	A	6: 115,876,452 (GRCm39)	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,690,561 (GRCm39)		probably benign	Het
Islr	T	C	9: 58,064,511 (GRCm39)	E332G	probably damaging	Het
Itgb7	G	A	15: 102,136,020 (GRCm39)	S5L	probably benign	Het
Itpr2	G	A	6: 146,246,659 (GRCm39)	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,105,250 (GRCm39)	V66F	probably damaging	Het
Krt81	T	C	15: 101,358,900 (GRCm39)	D284G	probably benign	Het
Krtap4-8	T	A	11: 99,670,831 (GRCm39)		probably benign	Het
Map1s	C	A	8: 71,366,554 (GRCm39)	N486K	probably benign	Het
Med13l	G	A	5: 118,872,093 (GRCm39)	D842N	probably damaging	Het
Mef2c	T	A	13: 83,803,714 (GRCm39)	M306K	probably damaging	Het
Myb	C	T	10: 21,022,159 (GRCm39)	V377I	probably benign	Het
Myocd	C	T	11: 65,075,451 (GRCm39)	G558R	possibly damaging	Het
Nars1	G	T	18: 64,638,039 (GRCm39)	A305E	probably damaging	Het
Neb	A	T	2: 52,086,373 (GRCm39)	N5233K	probably benign	Het
Nipsnap2	T	C	5: 129,823,503 (GRCm39)	I181T	possibly damaging	Het
Or10d4b	A	T	9: 39,534,661 (GRCm39)	M81L	probably benign	Het
Or1s2	T	C	19: 13,758,937 (GRCm39)		probably benign	Het
P3h2	A	C	16: 25,805,998 (GRCm39)	C282G	probably damaging	Het
Pcgf5	T	A	19: 36,420,268 (GRCm39)	C167S	probably damaging	Het
Pck2	T	C	14: 55,781,526 (GRCm39)		probably benign	Het
Peli2	C	T	14: 48,490,187 (GRCm39)	R169*	probably null	Het
Pramel16	T	A	4: 143,676,784 (GRCm39)		probably benign	Het
Psme3ip1	G	A	8: 95,313,990 (GRCm39)	R104W	probably damaging	Het
Ralgapa2	T	A	2: 146,263,659 (GRCm39)	Q686L	possibly damaging	Het
Scap	C	A	9: 110,191,488 (GRCm39)	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,187,257 (GRCm39)	D125E	possibly damaging	Het
Slc25a38	T	C	9: 119,945,560 (GRCm39)		probably benign	Het
Slc35a5	A	G	16: 44,964,195 (GRCm39)	V346A	probably damaging	Het
Smad4	T	A	18: 73,808,880 (GRCm39)	N129I	probably damaging	Het
Sod2	C	T	17: 13,232,464 (GRCm39)	A163V	possibly damaging	Het
Spred3	T	A	7: 28,860,948 (GRCm39)		probably benign	Het
Stag1	C	A	9: 100,737,912 (GRCm39)	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,800,196 (GRCm39)	S261T	probably benign	Het
Stx3	T	C	19: 11,769,152 (GRCm39)	K58E	probably damaging	Het
Timm10b	C	A	7: 105,290,345 (GRCm39)	Y79*	probably null	Het
Tmem204	T	C	17: 25,289,329 (GRCm39)	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,202,885 (GRCm39)	V181A	probably benign	Het
Trim54	T	G	5: 31,294,302 (GRCm39)	S313A	probably benign	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,706,555 (GRCm39)	T462A	probably benign	Het
Wdr27	T	A	17: 15,146,509 (GRCm39)	H162L	probably damaging	Het

Other mutations in Cd300ld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Cd300ld2	APN	11	114,903,369 (GRCm39)	unclassified	probably benign
IGL01452:Cd300ld2	APN	11	114,903,428 (GRCm39)	unclassified	probably benign
IGL02086:Cd300ld2	APN	11	114,903,384 (GRCm39)	unclassified	probably benign
IGL02111:Cd300ld2	APN	11	114,903,219 (GRCm39)	unclassified	probably benign
IGL02505:Cd300ld2	APN	11	114,904,513 (GRCm39)	missense	probably benign	0.11
IGL02517:Cd300ld2	APN	11	114,901,249 (GRCm39)	missense	possibly damaging	0.53
IGL02836:Cd300ld2	APN	11	114,904,576 (GRCm39)	missense	probably benign	0.07
IGL03081:Cd300ld2	APN	11	114,903,368 (GRCm39)	unclassified	probably benign
PIT4486001:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign
R0579:Cd300ld2	UTSW	11	114,903,125 (GRCm39)	missense	probably benign	0.23
R1065:Cd300ld2	UTSW	11	114,904,586 (GRCm39)	missense	probably damaging	1.00
R1393:Cd300ld2	UTSW	11	114,903,404 (GRCm39)	unclassified	probably benign
R1481:Cd300ld2	UTSW	11	114,903,459 (GRCm39)	missense	probably benign	0.36
R1583:Cd300ld2	UTSW	11	114,904,603 (GRCm39)	missense	probably benign	0.06
R1755:Cd300ld2	UTSW	11	114,904,601 (GRCm39)	missense	probably benign	0.01
R1865:Cd300ld2	UTSW	11	114,903,444 (GRCm39)	unclassified	probably benign
R4018:Cd300ld2	UTSW	11	114,903,330 (GRCm39)	unclassified	probably benign
R5516:Cd300ld2	UTSW	11	114,903,270 (GRCm39)	unclassified	probably benign
R6065:Cd300ld2	UTSW	11	114,903,428 (GRCm39)	unclassified	probably benign
R6927:Cd300ld2	UTSW	11	114,904,619 (GRCm39)	missense	probably damaging	1.00
R7874:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign
R7883:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign
R8044:Cd300ld2	UTSW	11	114,904,545 (GRCm39)	nonsense	probably null
R8263:Cd300ld2	UTSW	11	114,903,192 (GRCm39)	missense	unknown
R8306:Cd300ld2	UTSW	11	114,904,648 (GRCm39)	missense	probably benign	0.04
R8424:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign
R8808:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign
R8847:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign
R9090:Cd300ld2	UTSW	11	114,904,550 (GRCm39)	missense	probably damaging	1.00
R9176:Cd300ld2	UTSW	11	114,904,772 (GRCm39)	nonsense	probably null
R9271:Cd300ld2	UTSW	11	114,904,550 (GRCm39)	missense	probably damaging	1.00
R9494:Cd300ld2	UTSW	11	114,901,249 (GRCm39)	missense	possibly damaging	0.53
R9564:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign
R9720:Cd300ld2	UTSW	11	114,903,118 (GRCm39)	critical splice donor site	probably null
R9727:Cd300ld2	UTSW	11	114,903,257 (GRCm39)	small deletion	probably benign

Posted On

2013-06-28