Incidental Mutation 'R6594:Cd69'
ID 524763
Institutional Source Beutler Lab
Gene Symbol Cd69
Ensembl Gene ENSMUSG00000030156
Gene Name CD69 antigen
Synonyms AIM, 5830438K24Rik, VEA
MMRRC Submission 044718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6594 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 129244287-129252332 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 129246537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032259] [ENSMUST00000204411]
AlphaFold P37217
Predicted Effect probably null
Transcript: ENSMUST00000032259
SMART Domains Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156

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 null
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
Meta Mutation Damage Score 0.9585 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,113,432 (GRCm39) N296S probably benign Het
Abca13 A T 11: 9,244,632 (GRCm39) N2165I possibly damaging Het
Anpep T A 7: 79,491,109 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,089,647 (GRCm39) I145L probably benign Het
Ccar2 G A 14: 70,377,925 (GRCm39) L687F probably damaging Het
Chchd10 A C 10: 75,772,158 (GRCm39) Q43P probably damaging Het
Ddx55 A G 5: 124,704,988 (GRCm39) E415G probably damaging Het
Defa41 A G 8: 21,692,471 (GRCm39) probably null Het
Dhx40 A T 11: 86,676,599 (GRCm39) C172S possibly damaging Het
Epha1 G A 6: 42,341,625 (GRCm39) T475I probably benign Het
Eri1 T C 8: 35,949,687 (GRCm39) T91A probably damaging Het
Fscn1 C T 5: 142,955,783 (GRCm39) A158V probably benign Het
Gm11437 C T 11: 84,055,386 (GRCm39) G77R probably null Het
Golm1 T C 13: 59,812,041 (GRCm39) N94D possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Haus4 C A 14: 54,781,268 (GRCm39) E269D possibly damaging Het
Hyou1 T C 9: 44,300,619 (GRCm39) M896T probably benign Het
Itpr2 T A 6: 146,091,978 (GRCm39) M2174L possibly damaging Het
Kars1 T C 8: 112,720,299 (GRCm39) probably benign Het
Kif1a T C 1: 92,949,035 (GRCm39) M1488V probably benign Het
Lrp2 T C 2: 69,270,267 (GRCm39) T4106A possibly damaging Het
Lrrc20 G A 10: 61,318,225 (GRCm39) V16I possibly damaging Het
Mecr T A 4: 131,582,004 (GRCm39) V162E probably damaging Het
Ms4a4a C A 19: 11,363,778 (GRCm39) A102E probably damaging Het
Mycn T C 12: 12,990,051 (GRCm39) D115G probably damaging Het
Ninj2 A T 6: 120,175,750 (GRCm39) T138S possibly damaging Het
Oasl2 G A 5: 115,044,836 (GRCm39) V121I probably benign Het
Or10s1 T C 9: 39,986,239 (GRCm39) L216P probably damaging Het
Or2r11 A T 6: 42,437,309 (GRCm39) S215T probably benign Het
Or7g19 T C 9: 18,856,127 (GRCm39) F61S probably damaging Het
Pcdha11 A C 18: 37,144,235 (GRCm39) I109L probably benign Het
Pira1 T A 7: 3,739,498 (GRCm39) K457* probably null Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Rp1l1 A T 14: 64,269,126 (GRCm39) K1571* probably null Het
Sec24d G T 3: 123,087,412 (GRCm39) G193C probably damaging Het
Sema3b A T 9: 107,476,025 (GRCm39) M732K probably benign Het
Serpinb8 T C 1: 107,525,201 (GRCm39) M1T probably null Het
Sgip1 T A 4: 102,819,676 (GRCm39) V594E probably damaging Het
Slc3a2 T C 19: 8,685,410 (GRCm39) S197G probably damaging Het
Slc44a5 T C 3: 153,964,660 (GRCm39) V520A possibly damaging Het
Surf6 G T 2: 26,792,761 (GRCm39) D13E possibly damaging Het
Tmem94 G A 11: 115,689,112 (GRCm39) R1341H probably damaging Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Traf7 A G 17: 24,728,813 (GRCm39) V591A possibly damaging Het
Trim72 T C 7: 127,609,220 (GRCm39) S341P probably damaging Het
Trps1 A G 15: 50,694,351 (GRCm39) V398A probably damaging Het
Ube2m C A 7: 12,771,617 (GRCm39) E14* probably null Het
Unc119 T A 11: 78,238,046 (GRCm39) Y10N probably damaging Het
Ush2a T C 1: 188,642,995 (GRCm39) L4119P possibly damaging Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r4 A G 3: 64,296,731 (GRCm39) S685P probably damaging Het
Vmn2r58 T C 7: 41,486,535 (GRCm39) M787V possibly damaging Het
Vmn2r72 T C 7: 85,398,892 (GRCm39) H487R probably benign Het
Xcr1 A G 9: 123,685,309 (GRCm39) I151T probably benign Het
Zfp658 T C 7: 43,216,701 (GRCm39) S24P possibly damaging Het
Zfyve16 T C 13: 92,650,326 (GRCm39) D886G probably benign 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
R5522:Cd69 UTSW 6 129,248,379 (GRCm39) missense probably damaging 0.97
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'- ACTGCTCACACTAGTGTTTTGC -3'
(R):5'- TGATGCCATGCACAGCTAGC -3'

Sequencing Primer
(F):5'- GCTCACACTAGTGTTTTGCTAAGAC -3'
(R):5'- GCAACAATCAACTTAGTGATGATGC -3'
Posted On 2018-06-22