Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Cd300ld2'

296832

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 #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

114901161-114907019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114901249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 277 (H277L)

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

possibly damaging
Transcript: ENSMUST00000106578
AA Change: H277L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102188
Gene: ENSMUSG00000089753
AA Change: H277L

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	T	G	4: 49,380,647 (GRCm39)	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639 (GRCm39)	C228*	probably null	Het
Adam24	T	C	8: 41,133,218 (GRCm39)	S229P	probably damaging	Het
Alpk3	T	C	7: 80,727,643 (GRCm39)	S258P	probably benign	Het
Atad2b	A	G	12: 5,068,037 (GRCm39)	T1012A	probably benign	Het
Bltp1	A	G	3: 37,013,017 (GRCm39)	E1899G	probably damaging	Het
C4b	A	T	17: 34,953,382 (GRCm39)	S1034T	probably benign	Het
Chrna4	C	T	2: 180,670,926 (GRCm39)	V277I	probably benign	Het
Col3a1	A	G	1: 45,364,963 (GRCm39)		probably null	Het
Dpep2	C	T	8: 106,715,388 (GRCm39)	V369M	probably damaging	Het
Eml2	T	A	7: 18,940,055 (GRCm39)	N815K	probably damaging	Het
Enpp3	A	G	10: 24,685,746 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,390,413 (GRCm39)	V86A	probably benign	Het
Hivep2	C	T	10: 14,006,926 (GRCm39)	P1175S	probably benign	Het
Hydin	T	C	8: 111,293,604 (GRCm39)	I3517T	probably benign	Het
Ift172	T	A	5: 31,410,992 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,589,316 (GRCm39)	I647T	probably benign	Het
Kifap3	T	A	1: 163,653,440 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,670,915 (GRCm39)		probably null	Het
Lipa	A	C	19: 34,471,522 (GRCm39)	I351S	possibly damaging	Het
Ltbp2	G	T	12: 84,832,091 (GRCm39)	A1631D	probably benign	Het
Masp2	A	G	4: 148,698,477 (GRCm39)	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,702,436 (GRCm39)		probably benign	Het
Numa1	T	G	7: 101,661,216 (GRCm39)	D1846E	probably benign	Het
Oog3	A	T	4: 143,885,920 (GRCm39)	I226K	probably damaging	Het
Or11h6	A	G	14: 50,880,658 (GRCm39)	T301A	probably benign	Het
Or5an6	A	T	19: 12,372,265 (GRCm39)	I213F	probably benign	Het
Or8b3b	T	C	9: 38,584,209 (GRCm39)	Y177C	probably damaging	Het
Or8g53	T	G	9: 39,683,800 (GRCm39)	T99P	probably damaging	Het
Or9s13	A	T	1: 92,548,183 (GRCm39)	Y185F	probably benign	Het
Pkdcc	T	C	17: 83,531,295 (GRCm39)	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,365,425 (GRCm39)	Y70H	probably damaging	Het
Prcc	C	T	3: 87,776,984 (GRCm39)	S330N	probably damaging	Het
Ror2	A	T	13: 53,272,876 (GRCm39)	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,621,464 (GRCm39)	L651P	probably damaging	Het
Skint6	A	T	4: 112,805,737 (GRCm39)		probably benign	Het
Slc23a4	A	G	6: 34,931,917 (GRCm39)	F186L	probably benign	Het
Slc30a8	A	T	15: 52,198,530 (GRCm39)	D325V	probably benign	Het
Son	C	T	16: 91,452,099 (GRCm39)	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,891 (GRCm39)	F57I	probably damaging	Het
Tcf7l1	A	G	6: 72,606,966 (GRCm39)	S447P	probably benign	Het
Thsd1	T	A	8: 22,733,454 (GRCm39)	V167E	probably damaging	Het
Tle3	T	C	9: 61,322,063 (GRCm39)	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463 (GRCm39)	I405K	possibly damaging	Het
Tmem71	A	C	15: 66,413,466 (GRCm39)	V202G	probably benign	Het
Trim6	T	C	7: 103,881,564 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,721,535 (GRCm39)		probably benign	Het
Ubr1	A	C	2: 120,694,854 (GRCm39)	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,648,195 (GRCm39)	R4600H	probably damaging	Het
Vil1	A	G	1: 74,465,851 (GRCm39)	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,347,266 (GRCm39)	I152L	probably benign	Het
Vmn1r26	A	G	6: 57,986,127 (GRCm39)	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,185 (GRCm39)	K368*	probably null	Het
Vmn2r68	C	T	7: 84,871,153 (GRCm39)	W710*	probably null	Het
Zfp808	T	A	13: 62,321,032 (GRCm39)	*754R	probably null	Het
Zyg11b	C	T	4: 108,123,515 (GRCm39)	E151K	probably damaging	Het

Other mutations in Cd300ld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Cd300ld2	APN	11	114,903,123 (GRCm39)	missense	probably benign	0.23
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
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

2015-04-16