Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Cd69'

21949

Institutional Source

Beutler Lab

Gene Symbol

Cd69

Ensembl Gene

ENSMUSG00000030156

Gene Name

CD69 antigen

Synonyms

AIM, 5830438K24Rik, VEA

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

129244287-129252332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129247025 bp (GRCm39)

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]

AlphaFold

P37217

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: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	T	C	12: 79,196,780 (GRCm39)	L167P	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Baz2b	A	G	2: 59,732,298 (GRCm39)	V1949A	probably benign	Het
Bcl3	A	G	7: 19,543,494 (GRCm39)	V324A	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Camta1	A	G	4: 151,163,426 (GRCm39)	S1479P	probably damaging	Het
Col5a1	T	C	2: 27,914,843 (GRCm39)	L153P	probably damaging	Het
Crat	C	A	2: 30,297,042 (GRCm39)	V304L	probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Fau	T	C	19: 6,109,210 (GRCm39)	V86A	possibly damaging	Het
Garem1	T	G	18: 21,263,048 (GRCm39)	S589R	probably damaging	Het
Gbp3	T	G	3: 142,269,862 (GRCm39)		probably null	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,464,840 (GRCm39)	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,269,638 (GRCm39)	I517T	probably benign	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,542,991 (GRCm39)	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,804,165 (GRCm39)	L588P	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,752,159 (GRCm39)		probably benign	Het
Map7d1	A	T	4: 126,130,424 (GRCm39)		probably null	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Med13l	A	G	5: 118,862,115 (GRCm39)	T353A	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,580,369 (GRCm39)	W211R	probably damaging	Het
Morc2a	T	G	11: 3,635,907 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Ndufa10	A	T	1: 92,390,850 (GRCm39)	Y233*	probably null	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Nsd2	A	G	5: 34,012,880 (GRCm39)	K404E	possibly damaging	Het
Nsd3	G	T	8: 26,149,870 (GRCm39)	E352*	probably null	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Or8b57	A	G	9: 40,003,315 (GRCm39)	*312Q	probably null	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Pnpla3	G	A	15: 84,058,679 (GRCm39)		probably null	Het
Pramel1	C	A	4: 143,124,016 (GRCm39)	N230K	probably damaging	Het
Psg20	A	C	7: 18,416,432 (GRCm39)	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,896,639 (GRCm39)	F44L	probably benign	Het
Septin2	G	A	1: 93,434,772 (GRCm39)	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Slc12a8	A	G	16: 33,428,583 (GRCm39)	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,881,483 (GRCm39)	F335L	probably benign	Het
Slc26a5	T	C	5: 22,039,345 (GRCm39)	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,653,187 (GRCm39)	S144G	probably benign	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Spata24	T	C	18: 35,793,515 (GRCm39)	K99R	probably damaging	Het
Taar5	A	G	10: 23,847,607 (GRCm39)	Y335C	probably damaging	Het
Tpr	A	G	1: 150,306,346 (GRCm39)	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,782 (GRCm39)	Y360*	probably null	Het
Ybx1	C	A	4: 119,139,551 (GRCm39)	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,445,016 (GRCm39)	K720E	probably benign	Het
Zfp599	A	G	9: 22,161,038 (GRCm39)	S376P	probably benign	Het
Zic2	A	G	14: 122,713,953 (GRCm39)	E289G	probably damaging	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Cd69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Cd69	APN	6	129,245,283 (GRCm39)	missense	probably damaging	1.00
IGL02799:Cd69	APN	6	129,245,223 (GRCm39)	splice site	probably benign
Jazzed	UTSW	6	129,246,537 (GRCm39)	critical splice donor site	probably null
Surrogate	UTSW	6	129,246,543 (GRCm39)	missense	probably benign	0.00
3-1:Cd69	UTSW	6	129,252,212 (GRCm39)	missense	probably damaging	0.99
R0119:Cd69	UTSW	6	129,247,025 (GRCm39)	missense	probably benign	0.01
R1185:Cd69	UTSW	6	129,247,148 (GRCm39)	missense	probably damaging	1.00
R1185:Cd69	UTSW	6	129,247,148 (GRCm39)	missense	probably damaging	1.00
R1185:Cd69	UTSW	6	129,247,148 (GRCm39)	missense	probably damaging	1.00
R2327:Cd69	UTSW	6	129,248,351 (GRCm39)	missense	probably damaging	1.00
R2352:Cd69	UTSW	6	129,246,567 (GRCm39)	missense	probably damaging	1.00
R3955:Cd69	UTSW	6	129,245,343 (GRCm39)	splice site	probably null
R4780:Cd69	UTSW	6	129,248,318 (GRCm39)	missense	probably damaging	1.00
R5400:Cd69	UTSW	6	129,246,954 (GRCm39)	missense	probably benign	0.01
R5522:Cd69	UTSW	6	129,248,379 (GRCm39)	missense	probably damaging	0.97
R6594:Cd69	UTSW	6	129,246,537 (GRCm39)	critical splice donor site	probably null
R6737:Cd69	UTSW	6	129,245,262 (GRCm39)	missense	probably benign	0.04
R6972:Cd69	UTSW	6	129,246,543 (GRCm39)	missense	probably benign	0.00
R7240:Cd69	UTSW	6	129,247,005 (GRCm39)	missense	possibly damaging	0.78
R7694:Cd69	UTSW	6	129,247,008 (GRCm39)	missense	possibly damaging	0.91
R8710:Cd69	UTSW	6	129,246,573 (GRCm39)	missense	possibly damaging	0.73
R8911:Cd69	UTSW	6	129,252,187 (GRCm39)	missense	probably benign	0.00
Z1176:Cd69	UTSW	6	129,245,305 (GRCm39)	nonsense	probably null

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