Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Cd53'

260167

Institutional Source

Beutler Lab

Gene Symbol

Cd53

Ensembl Gene

ENSMUSG00000040747

Gene Name

CD53 antigen

Synonyms

Tspan25, Ox-44

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106667237-106697465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106674732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 112 (T112A)

Ref Sequence

ENSEMBL: ENSMUSP00000035781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038845]

AlphaFold

Q61451

Predicted Effect

probably benign
Transcript: ENSMUST00000038845
AA Change: T112A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: T112A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	210	4.6e-54	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

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 member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,570,817 (GRCm39)	F404L	probably benign	Het
Akr1c20	G	A	13: 4,557,774 (GRCm39)	T251M	probably damaging	Het
Amph	G	A	13: 19,288,437 (GRCm39)	V309I	possibly damaging	Het
Ano2	T	G	6: 125,840,481 (GRCm39)	F384C	probably damaging	Het
Aplf	G	A	6: 87,645,409 (GRCm39)	R32*	probably null	Het
Arhgef18	A	G	8: 3,482,759 (GRCm39)	M155V	probably benign	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Camkmt	T	C	17: 85,738,979 (GRCm39)		probably benign	Het
Capn2	T	A	1: 182,344,798 (GRCm39)	E41V	probably benign	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dact2	A	T	17: 14,416,176 (GRCm39)	S675T	probably damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eml4	T	A	17: 83,717,603 (GRCm39)	H58Q	probably benign	Het
F13b	T	C	1: 139,429,485 (GRCm39)	M1T	probably null	Het
Fam83b	A	G	9: 76,398,092 (GRCm39)	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Fscb	A	T	12: 64,519,348 (GRCm39)	V706E	unknown	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,727,805 (GRCm39)		probably benign	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Map3k19	T	A	1: 127,751,530 (GRCm39)	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,482,954 (GRCm39)	S588G	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,818,776 (GRCm39)	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,295,880 (GRCm39)	R158H	possibly damaging	Het
Obscn	T	C	11: 58,947,014 (GRCm39)	E4337G	possibly damaging	Het
Or5b106	A	G	19: 13,123,771 (GRCm39)	L84P	probably benign	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rbm6	T	C	9: 107,729,649 (GRCm39)	E333G	probably damaging	Het
Rem2	A	G	14: 54,713,819 (GRCm39)	T31A	possibly damaging	Het
Ric1	A	G	19: 29,579,730 (GRCm39)	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,418,362 (GRCm39)	S917P	probably damaging	Het
Scn2a	G	A	2: 65,518,715 (GRCm39)	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,313,264 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,419 (GRCm39)	E714*	probably null	Het
Slc15a1	T	A	14: 121,703,345 (GRCm39)	K545N	probably benign	Het
Slc1a2	T	A	2: 102,591,512 (GRCm39)	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,997,143 (GRCm39)	S70P	probably damaging	Het
Spopfm1	G	T	3: 94,173,787 (GRCm39)	C265F	possibly damaging	Het
Taf1a	A	G	1: 183,179,173 (GRCm39)	E117G	probably damaging	Het
Trem2	A	G	17: 48,658,141 (GRCm39)	D135G	probably benign	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,710,735 (GRCm39)		probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Wdr45	C	T	X: 7,593,611 (GRCm39)	P271S	probably damaging	Het
Zfp410	A	C	12: 84,378,411 (GRCm39)	N245T	probably damaging	Het

Other mutations in Cd53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02500:Cd53	APN	3	106,676,142 (GRCm39)	missense	probably damaging	1.00
IGL02592:Cd53	APN	3	106,670,601 (GRCm39)	missense	probably damaging	1.00
R0090:Cd53	UTSW	3	106,674,725 (GRCm39)	missense	possibly damaging	0.94
R0392:Cd53	UTSW	3	106,670,592 (GRCm39)	missense	probably damaging	1.00
R0538:Cd53	UTSW	3	106,669,444 (GRCm39)	missense	probably benign	0.07
R1452:Cd53	UTSW	3	106,676,275 (GRCm39)	missense	probably damaging	1.00
R1693:Cd53	UTSW	3	106,676,205 (GRCm39)	missense	possibly damaging	0.66
R2042:Cd53	UTSW	3	106,674,740 (GRCm39)	critical splice acceptor site	probably null
R2300:Cd53	UTSW	3	106,670,572 (GRCm39)	missense	probably benign
R4081:Cd53	UTSW	3	106,669,461 (GRCm39)	missense	probably benign
R6180:Cd53	UTSW	3	106,674,680 (GRCm39)	missense	probably damaging	0.96
R6519:Cd53	UTSW	3	106,669,461 (GRCm39)	missense	probably benign	0.00
R6694:Cd53	UTSW	3	106,674,702 (GRCm39)	missense	probably benign	0.03
R7043:Cd53	UTSW	3	106,670,577 (GRCm39)	missense	probably damaging	1.00
R7417:Cd53	UTSW	3	106,676,235 (GRCm39)	missense	probably benign	0.17
R7736:Cd53	UTSW	3	106,675,252 (GRCm39)	missense	probably benign	0.12
R7893:Cd53	UTSW	3	106,674,702 (GRCm39)	missense	probably benign	0.03
R9493:Cd53	UTSW	3	106,674,683 (GRCm39)	missense	probably null	0.66

Predicted Primers

PCR Primer
(F):5'- CTGCCTCTGAGAGCAAAGACATTC -3'
(R):5'- TAGATCCCACATAATCCTCAGCTTC -3'

Sequencing Primer
(F):5'- CTTAGAGTCTGAAACCTTTAGGAAAG -3'
(R):5'- CCACATAATCCTCAGCTTCTCTTC -3'

Posted On

2015-01-23