Incidental Mutation 'R2352:Cd69'
ID 246194
Institutional Source Beutler Lab
Gene Symbol Cd69
Ensembl Gene ENSMUSG00000030156
Gene Name CD69 antigen
Synonyms AIM, 5830438K24Rik, VEA
MMRRC Submission 040334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2352 (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 129246567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 114 (W114R)
Ref Sequence ENSEMBL: ENSMUSP00000144734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032259] [ENSMUST00000204411]
AlphaFold P37217
Predicted Effect probably damaging
Transcript: ENSMUST00000032259
AA Change: W155R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156
AA Change: W155R

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 damaging
Transcript: ENSMUST00000204411
AA Change: W114R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144734
Gene: ENSMUSG00000030156
AA Change: W114R

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 C T 14: 31,432,904 (GRCm39) V548I probably benign Het
Aspm T C 1: 139,385,300 (GRCm39) S315P probably benign Het
Caln1 G T 5: 130,534,993 (GRCm39) E70* probably null Het
Cnbd2 T C 2: 156,177,275 (GRCm39) Y90H probably damaging Het
Crebrf C T 17: 26,961,320 (GRCm39) S147F probably damaging Het
Cts7 A T 13: 61,500,586 (GRCm39) C320* probably null Het
Dgat1 T C 15: 76,386,513 (GRCm39) I474V possibly damaging Het
Dmxl2 T A 9: 54,301,146 (GRCm39) I2322F probably damaging Het
Dnah11 A T 12: 117,892,065 (GRCm39) F3703I probably damaging Het
Foxb2 A G 19: 16,850,433 (GRCm39) L191P unknown Het
Gli3 A T 13: 15,836,977 (GRCm39) E453D probably benign Het
Gnl3 C T 14: 30,738,783 (GRCm39) probably null Het
Golgb1 A T 16: 36,718,921 (GRCm39) T276S probably damaging Het
Grk4 T C 5: 34,826,520 (GRCm39) M40T probably benign Het
Hoxb1 A G 11: 96,257,203 (GRCm39) N184S possibly damaging Het
Insr G T 8: 3,242,593 (GRCm39) T42N probably damaging Het
Iqgap3 A G 3: 88,011,815 (GRCm39) K836E possibly damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Leng9 T A 7: 4,152,409 (GRCm39) E89V probably damaging Het
Lhcgr C T 17: 89,049,727 (GRCm39) V600I possibly damaging Het
Lima1 T C 15: 99,692,396 (GRCm39) N183S probably benign Het
Lmtk2 A G 5: 144,110,729 (GRCm39) D483G probably benign Het
Lpcat2b T G 5: 107,581,307 (GRCm39) L212R probably damaging Het
Lrrc61 A T 6: 48,545,806 (GRCm39) I210F probably benign Het
Lypd8l A T 11: 58,503,676 (GRCm39) L10H probably damaging Het
Lypd8l G A 11: 58,502,934 (GRCm39) Q72* probably null Het
Med12l C T 3: 59,148,113 (GRCm39) L977F probably damaging Het
Mical1 A T 10: 41,358,229 (GRCm39) D414V probably benign Het
Mmp14 C T 14: 54,678,002 (GRCm39) A541V probably benign Het
Mtmr10 A G 7: 63,947,328 (GRCm39) D81G possibly damaging Het
Myh1 G A 11: 67,111,363 (GRCm39) V1601M probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Neb T C 2: 52,177,348 (GRCm39) Y1331C probably damaging Het
Otop2 T C 11: 115,219,927 (GRCm39) S256P probably damaging Het
Prl8a1 A G 13: 27,759,572 (GRCm39) L155P probably damaging Het
Rrp1b A T 17: 32,278,302 (GRCm39) M658L possibly damaging Het
Sema4b C A 7: 79,870,627 (GRCm39) A525D probably damaging Het
Slc13a5 T A 11: 72,143,147 (GRCm39) I369F probably benign Het
Slc22a18 T C 7: 143,051,152 (GRCm39) S344P probably benign Het
Slc25a4 A C 8: 46,662,212 (GRCm39) S149A probably benign Het
Smc2 A T 4: 52,460,266 (GRCm39) E547D probably benign Het
Stx8 A G 11: 67,864,077 (GRCm39) T46A probably benign Het
Tacr3 T C 3: 134,560,631 (GRCm39) V190A probably benign Het
Tdrkh A T 3: 94,336,467 (GRCm39) K468M possibly damaging Het
Tmem145 T C 7: 25,005,598 (GRCm39) S4P probably benign Het
Tmem74 A G 15: 43,730,506 (GRCm39) I179T probably damaging Het
Vmn1r222 A C 13: 23,416,683 (GRCm39) W177G probably benign Het
Zfp426 T C 9: 20,381,401 (GRCm39) I529V probably benign Het
Zfp462 A G 4: 55,008,313 (GRCm39) Y93C probably null Het
Zfyve26 G A 12: 79,330,890 (GRCm39) T443I probably damaging Het
Zkscan16 A C 4: 58,951,869 (GRCm39) R181S possibly damaging 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
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'- TGAGGAAGAACTGAACCACC -3'
(R):5'- GCTGTATAGTCTCCCAGTGTG -3'

Sequencing Primer
(F):5'- GAGGAAGAACTGAACCACCATGAAC -3'
(R):5'- GATTGCTTAGTTTCAGAGACCAAC -3'
Posted On 2014-10-30