Mutagenetix > Incidental Mutations

Incidental Mutation 'R0136:Cd69'

21949

Institutional Source

Beutler Lab

Gene Symbol

Cd69

Ensembl Gene

ENSMUSG00000030156

Gene Name

CD69 antigen

Synonyms

VEA, AIM, 5830438K24Rik

MMRRC Submission

038421-MU

Accession Numbers

Genbank: NM_001033122; MGI: 88343

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

129267325-129275436 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129270062 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 64 (S64N)

Ref Sequence

ENSEMBL: ENSMUSP00000144734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032259] [ENSMUST00000204411]

Predicted Effect

probably benign
Transcript: ENSMUST00000032259
AA Change: S105N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156
AA Change: S105N

Domain	Start	End	E-Value	Type
Blast:CLECT	3	42	3e-8	BLAST
low complexity region	44	61	N/A	INTRINSIC
CLECT	85	195	3e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203727

Predicted Effect

probably benign
Transcript: ENSMUST00000204411
AA Change: S64N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144734
Gene: ENSMUSG00000030156
AA Change: S64N

Domain	Start	End	E-Value	Type
CLECT	44	154	1.5e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205190

Meta Mutation Damage Score

0.1104

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutation of this gene results in slightly increased pre-B and immature B cell numbers in the bone marrow, and increased IgG2a and IgM response to T cell-dependent and T cell-independent antigens. Mutant mice were less prone to collagen inducedarthritis. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,809,946	M1T	probably null	Het
Arg2	T	C	12: 79,150,006	L167P	probably damaging	Het
Atxn1	A	G	13: 45,567,169	S417P	probably damaging	Het
Baz2b	A	G	2: 59,901,954	V1949A	probably benign	Het
Bcl3	A	G	7: 19,809,569	V324A	probably damaging	Het
Btbd10	A	T	7: 113,329,878	S230T	possibly damaging	Het
Camta1	A	G	4: 151,078,969	S1479P	probably damaging	Het
Col5a1	T	C	2: 28,024,831	L153P	probably damaging	Het
Crat	C	A	2: 30,407,030	V304L	probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Fau	T	C	19: 6,059,180	V86A	possibly damaging	Het
Garem1	T	G	18: 21,129,991	S589R	probably damaging	Het
Gbp3	T	G	3: 142,564,101		probably null	Het
Gin1	T	A	1: 97,783,016	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,815,416	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,439,293	I517T	probably benign	Het
Hivep2	T	C	10: 14,131,878	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,395,177	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,826,801	L588P	probably damaging	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Itgb1	T	G	8: 128,722,854	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,854,278		probably benign	Het
Map7d1	A	T	4: 126,236,631		probably null	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Med13l	A	G	5: 118,724,050	T353A	probably benign	Het
Mgat4b	T	C	11: 50,231,081	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,442,306	W211R	probably damaging	Het
Morc2a	T	G	11: 3,685,907		probably null	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Ndufa10	A	T	1: 92,463,128	Y233*	probably null	Het
Nek8	C	T	11: 78,171,207	S237N	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 126,391,335	S165P	probably benign	Het
Nsd2	A	G	5: 33,855,536	K404E	possibly damaging	Het
Nsd3	G	T	8: 25,659,854	E352*	probably null	Het
Nudt9	A	G	5: 104,047,106	T23A	probably benign	Het
Olfr394	T	C	11: 73,887,785	M196V	probably benign	Het
Olfr394	C	T	11: 73,887,830	V181I	probably benign	Het
Olfr983	A	G	9: 40,092,019	*312Q	probably null	Het
Patj	C	A	4: 98,667,648	Q297K	probably damaging	Het
Pelo	A	T	13: 115,088,903	C40*	probably null	Het
Pnpla3	G	A	15: 84,174,478		probably null	Het
Pramel1	C	A	4: 143,397,446	N230K	probably damaging	Het
Psg20	A	C	7: 18,682,507	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,959,821	F44L	probably benign	Het
Sept2	G	A	1: 93,507,050	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,648,931		probably benign	Het
Slc12a8	A	G	16: 33,608,213	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,578,674	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,662,596	F335L	probably benign	Het
Slc26a5	T	C	5: 21,834,347	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,676,205	S144G	probably benign	Het
Spata20	T	A	11: 94,480,609	D643V	probably damaging	Het
Spata24	T	C	18: 35,660,462	K99R	probably damaging	Het
Taar5	A	G	10: 23,971,709	Y335C	probably damaging	Het
Tpr	A	G	1: 150,430,595	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,217,783	Y360*	probably null	Het
Ybx1	C	A	4: 119,282,354	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,297,202	K720E	probably benign	Het
Zfp599	A	G	9: 22,249,742	S376P	probably benign	Het
Zic2	A	G	14: 122,476,541	E289G	probably damaging	Het
Zzef1	T	C	11: 72,821,851	V199A	probably benign	Het

Other mutations in Cd69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Cd69	APN	6	129268320	missense	probably damaging	1.00
IGL02799:Cd69	APN	6	129268260	splice site	probably benign
Jazzed	UTSW	6	129269574	critical splice donor site	probably null
Surrogate	UTSW	6	129269580	missense	probably benign	0.00
3-1:Cd69	UTSW	6	129275249	missense	probably damaging	0.99
R0119:Cd69	UTSW	6	129270062	missense	probably benign	0.01
R1185:Cd69	UTSW	6	129270185	missense	probably damaging	1.00
R1185:Cd69	UTSW	6	129270185	missense	probably damaging	1.00
R1185:Cd69	UTSW	6	129270185	missense	probably damaging	1.00
R2327:Cd69	UTSW	6	129271388	missense	probably damaging	1.00
R2352:Cd69	UTSW	6	129269604	missense	probably damaging	1.00
R3955:Cd69	UTSW	6	129268380	splice site	probably null
R4780:Cd69	UTSW	6	129271355	missense	probably damaging	1.00
R5400:Cd69	UTSW	6	129269991	missense	probably benign	0.01
R5522:Cd69	UTSW	6	129271416	missense	probably damaging	0.97
R6594:Cd69	UTSW	6	129269574	critical splice donor site	probably null
R6737:Cd69	UTSW	6	129268299	missense	probably benign	0.04
R6972:Cd69	UTSW	6	129269580	missense	probably benign	0.00
R7240:Cd69	UTSW	6	129270042	missense	possibly damaging	0.78
R7694:Cd69	UTSW	6	129270045	missense	possibly damaging	0.91
Z1176:Cd69	UTSW	6	129268342

Predicted Primers

PCR Primer
(F):5'- GCCTCCACGACTAAGTTTCGCTAC -3'
(R):5'- AGAGTGTCCCCTAGACTCGGTTTAC -3'

Sequencing Primer
(F):5'- ACATGTGAGACAGGTGCCC -3'
(R):5'- CTAGACTCGGTTTACCTGTGGAG -3'

Posted On

2013-04-12