Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Cd53'

225027

Institutional Source

Beutler Lab

Gene Symbol

Cd53

Ensembl Gene

ENSMUSG00000040747

Gene Name

CD53 antigen

Synonyms

Tspan25, Ox-44

MMRRC Submission

040049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R2042 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

106667237-106697465 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 106674740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035781 (fasta)

Gene Model

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

AlphaFold

Q61451

Predicted Effect

probably null
Transcript: ENSMUST00000038845

SMART Domains

Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747

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

Meta Mutation Damage Score

0.9587

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Atr	T	C	9: 95,752,075 (GRCm39)	L564S	probably benign	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Efr3b	T	A	12: 4,034,627 (GRCm39)	D65V	probably damaging	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mks1	C	T	11: 87,747,494 (GRCm39)		probably benign	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,255,494 (GRCm39)	Q132H	probably benign	Het
Nemp1	T	C	10: 127,532,203 (GRCm39)	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or12j2	T	C	7: 139,915,850 (GRCm39)	L25P	probably damaging	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Spata31f3	C	T	4: 42,874,030 (GRCm39)	C46Y	possibly damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	possibly 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
R2300:Cd53	UTSW	3	106,670,572 (GRCm39)	missense	probably benign
R2878:Cd53	UTSW	3	106,674,732 (GRCm39)	missense	probably benign	0.00
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'- GCCTCTGAGAGCAAAGACATTC -3'
(R):5'- TAGATCCCACATAATCCTCAGCTTC -3'

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

Posted On

2014-08-25