Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00645:Cd2'

9484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd2

Ensembl Gene

ENSMUSG00000027863

Gene Name

CD2 antigen

Synonyms

LFA-2, Ly-37, Ly37

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00645

Quality Score

Status

Chromosome

Chromosomal Location

101183224-101195255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101190539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 135 (N135D)

Ref Sequence

ENSEMBL: ENSMUSP00000029456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029456]

AlphaFold

P08920

Predicted Effect

probably damaging
Transcript: ENSMUST00000029456
AA Change: N135D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029456
Gene: ENSMUSG00000027863
AA Change: N135D

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:V-set	23	121	3.5e-10	PFAM
Pfam:C2-set	129	199	4.1e-17	PFAM
transmembrane domain	206	228	N/A	INTRINSIC
low complexity region	230	239	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	319	331	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152321

SMART Domains

Protein: ENSMUSP00000116891
Gene: ENSMUSG00000027863

Domain	Start	End	E-Value	Type
Pfam:V-set	1	75	2.6e-10	PFAM
Pfam:C2-set	85	139	2.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156103

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a surface antigen found on all peripheral blood T-cells. The encoded protein interacts with LFA3 (CD58) on antigen presenting cells to optimize immune recognition. A locus control region (LCR) has been found in the 3' flanking sequence of this gene. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c21	A	G	13: 4,626,312 (GRCm39)	D112G	probably damaging	Het
Coq10b	A	G	1: 55,100,468 (GRCm39)	T51A	probably benign	Het
Cst5	T	A	2: 149,251,899 (GRCm39)	C125S	probably damaging	Het
Fam135b	A	G	15: 71,334,395 (GRCm39)	V933A	probably damaging	Het
Fbn1	A	G	2: 125,159,023 (GRCm39)		probably benign	Het
Kcna10	G	A	3: 107,102,781 (GRCm39)	E471K	possibly damaging	Het
Msl1	T	A	11: 98,696,247 (GRCm39)	C598S	probably damaging	Het
Nup35	T	A	2: 80,485,176 (GRCm39)	F192L	probably damaging	Het
Sec16b	T	A	1: 157,394,289 (GRCm39)	V1026D	probably damaging	Het
Serpina3f	T	C	12: 104,183,599 (GRCm39)	F154L	probably benign	Het

Other mutations in Cd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Cd2	APN	3	101,190,345 (GRCm39)	critical splice donor site	probably null
IGL00774:Cd2	APN	3	101,190,345 (GRCm39)	critical splice donor site	probably null
R0969:Cd2	UTSW	3	101,183,371 (GRCm39)	missense	probably benign	0.39
R1120:Cd2	UTSW	3	101,194,804 (GRCm39)	missense	probably damaging	0.99
R1752:Cd2	UTSW	3	101,183,511 (GRCm39)	missense	probably benign	0.36
R1753:Cd2	UTSW	3	101,194,815 (GRCm39)	missense	possibly damaging	0.54
R4624:Cd2	UTSW	3	101,194,747 (GRCm39)	missense	probably benign	0.41
R5091:Cd2	UTSW	3	101,190,355 (GRCm39)	missense	probably benign	0.01
R9235:Cd2	UTSW	3	101,195,159 (GRCm39)	missense	probably benign	0.18
X0065:Cd2	UTSW	3	101,183,473 (GRCm39)	missense	probably damaging	1.00
Z1177:Cd2	UTSW	3	101,183,422 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06