Incidental Mutation 'R7240:Cd69'
ID 563140
Institutional Source Beutler Lab
Gene Symbol Cd69
Ensembl Gene ENSMUSG00000030156
Gene Name CD69 antigen
Synonyms AIM, 5830438K24Rik, VEA
MMRRC Submission 045347-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7240 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 129244287-129252332 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129247005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 112 (S112T)
Ref Sequence ENSEMBL: ENSMUSP00000032259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032259] [ENSMUST00000204411]
AlphaFold P37217
Predicted Effect possibly damaging
Transcript: ENSMUST00000032259
AA Change: S112T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156
AA Change: S112T

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 possibly damaging
Transcript: ENSMUST00000204411
AA Change: S71T

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144734
Gene: ENSMUSG00000030156
AA Change: S71T

DomainStartEndE-ValueType
CLECT 44 154 1.5e-25 SMART
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
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
2210017I01Rik A G 3: 92,512,382 (GRCm39) I59T unknown Het
Aspm C T 1: 139,406,389 (GRCm39) Q1759* probably null Het
Atn1 A T 6: 124,724,861 (GRCm39) I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,911,198 (GRCm39) V879M probably benign Het
Cd300c A G 11: 114,850,609 (GRCm39) C65R possibly damaging Het
Cdh19 T C 1: 110,821,137 (GRCm39) T534A probably benign Het
Cdk5rap2 T A 4: 70,210,145 (GRCm39) D701V probably damaging Het
D130052B06Rik A G 11: 33,573,874 (GRCm39) H157R possibly damaging Het
Dpf1 T A 7: 29,011,052 (GRCm39) F150L probably benign Het
Dsg1c T C 18: 20,416,166 (GRCm39) L689P probably damaging Het
Dstyk G A 1: 132,381,861 (GRCm39) M538I probably benign Het
E4f1 T A 17: 24,663,299 (GRCm39) I669F probably damaging Het
Gm7138 T C 10: 77,612,589 (GRCm39) T64A unknown Het
Gnai2 A C 9: 107,492,972 (GRCm39) D310E Het
Iqca1 A G 1: 89,998,272 (GRCm39) V567A possibly damaging Het
Iqgap1 A T 7: 80,409,587 (GRCm39) N249K probably benign Het
Lamc1 A G 1: 153,110,396 (GRCm39) V1093A possibly damaging Het
Mfap3 A G 11: 57,420,582 (GRCm39) K188E probably damaging Het
N4bp2 T A 5: 65,951,888 (GRCm39) V431D probably damaging Het
Notch4 A G 17: 34,795,445 (GRCm39) T792A probably benign Het
Ntn4 A G 10: 93,581,603 (GRCm39) H592R probably damaging Het
Ofcc1 A G 13: 40,362,317 (GRCm39) C202R probably benign Het
Or10j2 T C 1: 173,098,561 (GRCm39) I273T probably benign Het
Or2a7 A G 6: 43,151,435 (GRCm39) K172E probably benign Het
Or5p55 T C 7: 107,567,395 (GRCm39) S264P probably benign Het
Or5p72 A G 7: 108,022,140 (GRCm39) M121V probably damaging Het
Or8b55 A G 9: 38,727,009 (GRCm39) D70G probably benign Het
Or8g24 A T 9: 38,989,906 (GRCm39) M45K probably damaging Het
Parpbp G A 10: 87,960,802 (GRCm39) T228I probably damaging Het
Pcdhgb8 G A 18: 37,896,756 (GRCm39) V609M probably damaging Het
Pla2g4d T C 2: 120,100,830 (GRCm39) N543S probably damaging Het
Puf60 A G 15: 75,944,388 (GRCm39) probably benign Het
Rbm6 A T 9: 107,730,095 (GRCm39) D184E probably damaging Het
Rnase9 A C 14: 51,276,436 (GRCm39) S181A probably benign Het
Rnpc3 T A 3: 113,410,480 (GRCm39) R270S probably damaging Het
Rundc1 T C 11: 101,322,374 (GRCm39) probably null Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Scn3a A T 2: 65,299,386 (GRCm39) D1373E possibly damaging Het
Serpina3k T G 12: 104,306,861 (GRCm39) I31S probably benign Het
Sipa1l2 A G 8: 126,196,599 (GRCm39) F712L probably damaging Het
Slc22a29 A G 19: 8,138,875 (GRCm39) V529A probably damaging Het
Tdrd3 A G 14: 87,696,239 (GRCm39) N58S probably benign Het
Tmc2 C T 2: 130,076,724 (GRCm39) T350I possibly damaging Het
Tpst2 T C 5: 112,455,544 (GRCm39) C28R probably benign Het
Trbv21 A T 6: 41,179,892 (GRCm39) K69N probably benign Het
Trpm2 A G 10: 77,771,710 (GRCm39) probably null Het
Ttn A G 2: 76,679,334 (GRCm39) V10796A unknown Het
Ush2a A G 1: 188,643,858 (GRCm39) T4407A possibly damaging Het
Vmn2r95 A G 17: 18,672,225 (GRCm39) H726R probably benign Het
Zfp777 A G 6: 48,021,383 (GRCm39) S80P 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
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
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'- GTTCATACAGTGCTCCCTGC -3'
(R):5'- ACTCGGTTTACCTGTGGAGAG -3'

Sequencing Primer
(F):5'- GCCTCCACGACTAAGTTTCG -3'
(R):5'- TTCTTCTGTTACTAAGACAAATGTCC -3'
Posted On 2019-06-26