Incidental Mutation 'R5522:Cd69'
ID 431609
Institutional Source Beutler Lab
Gene Symbol Cd69
Ensembl Gene ENSMUSG00000030156
Gene Name CD69 antigen
Synonyms AIM, 5830438K24Rik, VEA
MMRRC Submission 043081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5522 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 129244287-129252332 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129248379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 36 (S36T)
Ref Sequence ENSEMBL: ENSMUSP00000032259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032259] [ENSMUST00000204411]
AlphaFold P37217
Predicted Effect probably damaging
Transcript: ENSMUST00000032259
AA Change: S36T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156
AA Change: S36T

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000144734
Gene: ENSMUSG00000030156

DomainStartEndE-ValueType
CLECT 44 154 1.5e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205190
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 93.9%
  • 20x: 85.3%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T C 8: 84,649,704 (GRCm39) Y121H possibly damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Atp13a2 T A 4: 140,731,671 (GRCm39) probably null Het
Ceacam5 A T 7: 17,449,005 (GRCm39) I124L probably benign Het
Cerkl T C 2: 79,223,328 (GRCm39) H131R probably benign Het
Cfap57 A T 4: 118,453,085 (GRCm39) N539K probably benign Het
Cyp4x1 C A 4: 114,979,174 (GRCm39) W141L probably damaging Het
Dlgap1 T C 17: 70,823,993 (GRCm39) probably null Het
Dnaaf9 G A 2: 130,656,222 (GRCm39) probably benign Het
Dst T C 1: 34,296,954 (GRCm39) I5781T possibly damaging Het
Epha2 T A 4: 141,035,867 (GRCm39) V101E probably damaging Het
Exph5 T C 9: 53,285,613 (GRCm39) F898S possibly damaging Het
Fyco1 G A 9: 123,623,836 (GRCm39) R1398* probably null Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Grb10 T C 11: 11,886,746 (GRCm39) I508V probably benign Het
Igf1r C A 7: 67,833,258 (GRCm39) Q473K probably damaging Het
Ighv1-66 T A 12: 115,556,755 (GRCm39) D109V probably damaging Het
Ipmk C A 10: 71,199,304 (GRCm39) T55K probably benign Het
Kdm2b A G 5: 123,087,225 (GRCm39) Y192H probably damaging Het
Krt32 A T 11: 99,977,497 (GRCm39) probably null Het
Kti12 T A 4: 108,705,620 (GRCm39) L178Q possibly damaging Het
Mchr1 A T 15: 81,122,211 (GRCm39) K320N possibly damaging Het
Mdn1 T C 4: 32,685,783 (GRCm39) L858S probably damaging Het
Myo3a T A 2: 22,464,353 (GRCm39) F198Y probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfatc1 T C 18: 80,696,744 (GRCm39) T647A probably benign Het
Nuf2 A G 1: 169,326,453 (GRCm39) Y433H probably damaging Het
Nup210l T C 3: 90,061,972 (GRCm39) V717A probably benign Het
Or3a1b A G 11: 74,012,484 (GRCm39) Y123C probably damaging Het
Or5h17 A T 16: 58,820,268 (GRCm39) L73F probably benign Het
Or6c35 A T 10: 129,168,798 (GRCm39) D16V probably damaging Het
Pbrm1 A G 14: 30,811,520 (GRCm39) Y1210C probably damaging Het
Pcdhb6 A G 18: 37,467,402 (GRCm39) I108V probably benign Het
Plac8 T A 5: 100,710,584 (GRCm39) T6S probably benign Het
Plbd1 A T 6: 136,594,298 (GRCm39) V317E probably benign Het
Rars1 A T 11: 35,708,195 (GRCm39) Y406* probably null Het
Scamp3 T C 3: 89,084,929 (GRCm39) F11L possibly damaging Het
Sctr A G 1: 119,964,146 (GRCm39) N142S probably benign Het
Sh2d4a T C 8: 68,749,349 (GRCm39) S128P probably benign Het
Snrnp70 C T 7: 45,026,601 (GRCm39) probably benign Het
Taf3 T C 2: 9,945,816 (GRCm39) K596R probably damaging Het
Tango6 T C 8: 107,422,230 (GRCm39) probably null Het
Taok3 A G 5: 117,411,822 (GRCm39) T414A probably benign Het
Tmem104 G A 11: 115,079,149 (GRCm39) probably null Het
Tmem231 T A 8: 112,645,042 (GRCm39) S155C possibly damaging Het
Tssk3 G A 4: 129,383,343 (GRCm39) R110W possibly damaging Het
Ugt2b37 T C 5: 87,388,759 (GRCm39) T485A probably benign Het
Unc5b T C 10: 60,613,974 (GRCm39) K292E possibly damaging Het
Upf3a T A 8: 13,845,497 (GRCm39) probably null Het
Usp24 T A 4: 106,229,918 (GRCm39) V797E probably damaging Het
Vcan T C 13: 89,839,929 (GRCm39) T1872A possibly damaging Het
Vmn1r195 A G 13: 22,463,120 (GRCm39) M197V probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Xab2 A T 8: 3,661,718 (GRCm39) D578E probably benign Het
Xpo7 A T 14: 70,909,090 (GRCm39) Y810* probably null Het
Zcchc2 A G 1: 105,951,426 (GRCm39) N587S probably benign Het
Zfp189 C T 4: 49,529,739 (GRCm39) R281* probably null Het
Zranb1 T C 7: 132,585,678 (GRCm39) *735R probably null Het
Other mutations in Cd69
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0136: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
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'- CTGACCAGTTATGTGTCTGAGATG -3'
(R):5'- ACGTTTTCCAAATGCACTCAG -3'

Sequencing Primer
(F):5'- GTGTCTGAGATGTTTCTAAGTCAATC -3'
(R):5'- TCCAAATGCACTCAGAATTTGG -3'
Posted On 2016-10-05