Incidental Mutation 'R2076:Cd3g'
ID 229162
Institutional Source Beutler Lab
Gene Symbol Cd3g
Ensembl Gene ENSMUSG00000002033
Gene Name CD3 antigen, gamma polypeptide
Synonyms Ctg3, T3g, Ctg-3
MMRRC Submission 040081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R2076 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44880870-44891729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44885595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 50 (D50V)
Ref Sequence ENSEMBL: ENSMUSP00000125151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002101] [ENSMUST00000160886]
AlphaFold P11942
Predicted Effect probably damaging
Transcript: ENSMUST00000002101
AA Change: D58V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002101
Gene: ENSMUSG00000002033
AA Change: D58V

DomainStartEndE-ValueType
IGc2 37 94 3.51e-8 SMART
transmembrane domain 115 137 N/A INTRINSIC
ITAM 157 177 2.06e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159019
Predicted Effect probably damaging
Transcript: ENSMUST00000160886
AA Change: D50V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125151
Gene: ENSMUSG00000002033
AA Change: D50V

DomainStartEndE-ValueType
IGc2 29 86 3.51e-8 SMART
Meta Mutation Damage Score 0.4922 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thymocyte number and T cell response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,178,478 (GRCm39) V1165D probably benign Het
Acot11 T C 4: 106,627,910 (GRCm39) H103R probably damaging Het
Apba1 G T 19: 23,870,587 (GRCm39) E140* probably null Het
Bicdl1 A T 5: 115,793,987 (GRCm39) I253N probably damaging Het
Ccdc159 T C 9: 21,840,802 (GRCm39) probably null Het
Ccne2 A G 4: 11,197,177 (GRCm39) R160G probably damaging Het
Cct7 A T 6: 85,445,122 (GRCm39) I458F probably damaging Het
Ces2h T C 8: 105,745,660 (GRCm39) L461P probably benign Het
Cplane1 T A 15: 8,248,741 (GRCm39) D1763E possibly damaging Het
Csn2 A G 5: 87,844,033 (GRCm39) S19P probably damaging Het
Cyp3a11 A T 5: 145,816,576 (GRCm39) V4D probably benign Het
Ddx3y A G Y: 1,266,593 (GRCm39) probably null Het
Dipk1c G T 18: 84,755,033 (GRCm39) D170Y probably damaging Het
Dlgap1 C T 17: 71,093,826 (GRCm39) Q716* probably null Het
Dlx6 A G 6: 6,867,098 (GRCm39) S234G probably benign Het
Dnah7a T C 1: 53,542,968 (GRCm39) T2401A probably benign Het
Dnah7b T G 1: 46,281,481 (GRCm39) Y2847* probably null Het
Dpysl2 A G 14: 67,102,571 (GRCm39) S30P probably damaging Het
Elp1 T C 4: 56,786,620 (GRCm39) D441G probably damaging Het
Ezh2 A T 6: 47,553,567 (GRCm39) L50* probably null Het
Fam135b T A 15: 71,350,092 (GRCm39) E349D probably damaging Het
Foxl3 A G 5: 138,807,022 (GRCm39) D100G probably benign Het
Frat2 T C 19: 41,836,242 (GRCm39) T37A probably benign Het
Hivep1 G A 13: 42,317,869 (GRCm39) probably null Het
Ift25 T C 4: 107,136,964 (GRCm39) S121P possibly damaging Het
Impdh1 G A 6: 29,205,162 (GRCm39) A213V probably damaging Het
Irf2 G T 8: 47,298,962 (GRCm39) W252L probably damaging Het
Irx4 A G 13: 73,416,384 (GRCm39) D260G probably damaging Het
Kalrn T A 16: 34,152,513 (GRCm39) H338L probably benign Het
Kif9 T A 9: 110,314,100 (GRCm39) probably null Het
Klhl24 T C 16: 19,936,628 (GRCm39) V412A probably damaging Het
Lgals8 T A 13: 12,469,750 (GRCm39) K70* probably null Het
Mrtfb T C 16: 13,219,246 (GRCm39) S631P probably benign Het
Myo1e T A 9: 70,291,159 (GRCm39) N983K probably benign Het
Nipbl T C 15: 8,340,691 (GRCm39) R2010G probably benign Het
Npw A T 17: 24,876,413 (GRCm39) V166D possibly damaging Het
Osbpl5 T C 7: 143,262,881 (GRCm39) Y169C probably damaging Het
Pcdh15 T C 10: 74,178,479 (GRCm39) Y579H probably damaging Het
Pde8a A G 7: 80,958,693 (GRCm39) T330A probably benign Het
Plxnb2 C T 15: 89,042,229 (GRCm39) V1592M probably damaging Het
Ppp2r3d A C 9: 101,021,570 (GRCm39) M955R possibly damaging Het
Ptprk T A 10: 28,465,364 (GRCm39) I1349K probably damaging Het
Rad52 C T 6: 119,888,040 (GRCm39) H9Y probably benign Het
Rapgef1 A G 2: 29,592,520 (GRCm39) Q466R probably benign Het
Rb1cc1 T A 1: 6,320,262 (GRCm39) I1227N possibly damaging Het
Rhbdf1 T C 11: 32,164,088 (GRCm39) M273V probably benign Het
Shoc1 A G 4: 59,082,410 (GRCm39) V406A possibly damaging Het
Slc30a3 G T 5: 31,244,165 (GRCm39) Y323* probably null Het
Slc5a9 T C 4: 111,742,770 (GRCm39) I441V possibly damaging Het
Spast G C 17: 74,659,026 (GRCm39) G131A probably damaging Het
Syne1 C G 10: 4,990,897 (GRCm39) W8444S probably damaging Het
Tgm4 G T 9: 122,880,160 (GRCm39) A211S probably benign Het
Themis2 T C 4: 132,513,113 (GRCm39) D371G probably damaging Het
Tmem132e T A 11: 82,325,894 (GRCm39) I206N possibly damaging Het
Uba3 G T 6: 97,176,241 (GRCm39) D88E probably damaging Het
Vmn1r230 T A 17: 21,067,144 (GRCm39) M111K probably damaging Het
Wdr35 C T 12: 9,074,281 (GRCm39) H971Y possibly damaging Het
Yeats2 C A 16: 20,005,032 (GRCm39) H356Q possibly damaging Het
Zfp180 A G 7: 23,804,528 (GRCm39) K316E probably damaging Het
Zfp518a T C 19: 40,902,771 (GRCm39) L900P probably damaging Het
Zfp655 A G 5: 145,181,410 (GRCm39) N423D possibly damaging Het
Zfp932 A G 5: 110,157,334 (GRCm39) Q344R probably benign Het
Other mutations in Cd3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01881:Cd3g APN 9 44,882,566 (GRCm39) missense probably damaging 1.00
IGL02624:Cd3g APN 9 44,885,459 (GRCm39) critical splice donor site probably null
IGL02750:Cd3g APN 9 44,882,608 (GRCm39) unclassified probably benign
IGL03097:Cd3g UTSW 9 44,882,061 (GRCm39) missense probably damaging 1.00
R1711:Cd3g UTSW 9 44,885,640 (GRCm39) missense probably damaging 1.00
R3614:Cd3g UTSW 9 44,891,587 (GRCm39) missense probably benign 0.39
R4514:Cd3g UTSW 9 44,884,882 (GRCm39) missense possibly damaging 0.93
R5732:Cd3g UTSW 9 44,884,929 (GRCm39) missense possibly damaging 0.89
R6520:Cd3g UTSW 9 44,882,613 (GRCm39) splice site probably null
R7447:Cd3g UTSW 9 44,884,857 (GRCm39) missense probably damaging 1.00
R7776:Cd3g UTSW 9 44,885,459 (GRCm39) critical splice donor site probably null
R9041:Cd3g UTSW 9 44,884,818 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CAGCAAGTACGCCTGGATTC -3'
(R):5'- GACCCTAGGAATGAGGCATG -3'

Sequencing Primer
(F):5'- GTACGCCTGGATTCCCAACAG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2014-09-17