Incidental Mutation 'R3176:Nfatc2'
ID 475981
Institutional Source Beutler Lab
Gene Symbol Nfatc2
Ensembl Gene ENSMUSG00000027544
Gene Name nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2
Synonyms NFAT1, NFAT1-D, NFATp
MMRRC Submission 040614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3176 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 168318330-168443577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 168348914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 638 (N638D)
Ref Sequence ENSEMBL: ENSMUSP00000104812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074618] [ENSMUST00000109184]
AlphaFold Q60591
Predicted Effect possibly damaging
Transcript: ENSMUST00000074618
AA Change: N638D

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: N638D

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 170 187 N/A INTRINSIC
low complexity region 236 255 N/A INTRINSIC
low complexity region 267 283 N/A INTRINSIC
Pfam:RHD_DNA_bind 412 572 2.8e-24 PFAM
IPT 579 678 1.65e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109184
AA Change: N638D

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: N638D

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 170 187 N/A INTRINSIC
low complexity region 236 255 N/A INTRINSIC
low complexity region 267 283 N/A INTRINSIC
Pfam:RHD 412 572 1.3e-24 PFAM
IPT 579 678 1.65e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151292
Meta Mutation Damage Score 0.2704 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (28/28)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mutations in this locus cause altered immune system function such as decreased cytokine production by mast cells, increased Th2 responses after infection with a parasite but decreased Th1 responses after myobacterial infection, retarded thymic involutionand massive germinal center formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,233,495 (GRCm39) R1269H probably damaging Het
Ace A G 11: 105,867,528 (GRCm39) E164G probably null Het
Als2 A T 1: 59,209,167 (GRCm39) V1464E possibly damaging Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Cdkn3 T C 14: 47,008,934 (GRCm39) probably benign Het
Ces2a A G 8: 105,466,010 (GRCm39) probably benign Het
Col16a1 A G 4: 129,951,792 (GRCm39) K72E probably damaging Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Col6a6 T C 9: 105,663,429 (GRCm39) H36R probably benign Het
Cyp4b1 T C 4: 115,483,047 (GRCm39) N415D possibly damaging Het
Dcp1a A G 14: 30,227,499 (GRCm39) probably benign Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dhcr24 T C 4: 106,418,436 (GRCm39) F25L probably benign Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Dhx58 A G 11: 100,587,805 (GRCm39) F584S probably damaging Het
Dmbt1 A G 7: 130,689,801 (GRCm39) T715A probably benign Het
Dtx3l A G 16: 35,752,543 (GRCm39) S688P probably benign Het
Eogt T A 6: 97,108,355 (GRCm39) I229F probably benign Het
Ern2 T C 7: 121,780,187 (GRCm39) T164A possibly damaging Het
Fam133b A T 5: 3,608,522 (GRCm39) N84I probably damaging Het
Fbxl21 T A 13: 56,684,935 (GRCm39) Y346* probably null Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kcnt2 A G 1: 140,537,377 (GRCm39) N1119S probably benign Het
Kif15 T C 9: 122,816,905 (GRCm39) probably benign Het
Klhl32 T C 4: 24,682,063 (GRCm39) I207V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl5 T C 17: 28,798,920 (GRCm39) I143T possibly damaging Het
Lrrk1 T C 7: 65,955,269 (GRCm39) K431E possibly damaging Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Maml3 A T 3: 51,764,351 (GRCm39) N204K possibly damaging Het
Mmut A G 17: 41,269,763 (GRCm39) probably null Het
Mrpl19 T C 6: 81,941,047 (GRCm39) S115G probably damaging Het
Mthfd1l G C 10: 4,098,025 (GRCm39) G954A probably damaging Het
Myo19 A G 11: 84,783,001 (GRCm39) I172V probably benign Het
Naca T C 10: 127,876,530 (GRCm39) probably benign Het
Nbeal2 G A 9: 110,465,955 (GRCm39) probably benign Het
Or52r1c C A 7: 102,734,957 (GRCm39) D72E probably damaging Het
Or8b49 T A 9: 38,505,939 (GRCm39) C141S probably damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Prcd A G 11: 116,550,637 (GRCm39) E103G possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rad54l2 A G 9: 106,631,142 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,590 (GRCm39) M1003K probably benign Het
Scap A T 9: 110,203,093 (GRCm39) M256L probably benign Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Tmem120b T A 5: 123,252,167 (GRCm39) I146N probably damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Ube3a T A 7: 58,926,267 (GRCm39) C348* probably null Het
Ubr4 T A 4: 139,149,166 (GRCm39) D1777E probably benign Het
Unc79 C A 12: 103,079,476 (GRCm39) D1880E probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Nfatc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Nfatc2 APN 2 168,346,810 (GRCm39) missense probably damaging 1.00
IGL01728:Nfatc2 APN 2 168,378,162 (GRCm39) missense probably damaging 1.00
IGL02303:Nfatc2 APN 2 168,348,821 (GRCm39) nonsense probably null
IGL02887:Nfatc2 APN 2 168,346,370 (GRCm39) missense probably damaging 1.00
IGL03002:Nfatc2 APN 2 168,376,904 (GRCm39) missense probably damaging 1.00
IGL03297:Nfatc2 APN 2 168,378,138 (GRCm39) missense probably damaging 0.99
R0347:Nfatc2 UTSW 2 168,378,210 (GRCm39) missense probably damaging 1.00
R0590:Nfatc2 UTSW 2 168,413,119 (GRCm39) missense probably damaging 0.99
R0631:Nfatc2 UTSW 2 168,432,035 (GRCm39) missense probably benign 0.02
R1019:Nfatc2 UTSW 2 168,346,799 (GRCm39) missense probably damaging 1.00
R1183:Nfatc2 UTSW 2 168,432,008 (GRCm39) missense possibly damaging 0.83
R1420:Nfatc2 UTSW 2 168,346,585 (GRCm39) missense probably benign 0.01
R1977:Nfatc2 UTSW 2 168,346,379 (GRCm39) missense possibly damaging 0.68
R2306:Nfatc2 UTSW 2 168,432,023 (GRCm39) missense probably damaging 1.00
R3034:Nfatc2 UTSW 2 168,376,940 (GRCm39) missense probably damaging 1.00
R3276:Nfatc2 UTSW 2 168,348,914 (GRCm39) missense possibly damaging 0.51
R3964:Nfatc2 UTSW 2 168,346,469 (GRCm39) missense probably benign 0.00
R3966:Nfatc2 UTSW 2 168,346,469 (GRCm39) missense probably benign 0.00
R4669:Nfatc2 UTSW 2 168,413,410 (GRCm39) missense probably benign
R4864:Nfatc2 UTSW 2 168,378,312 (GRCm39) missense probably damaging 0.96
R4951:Nfatc2 UTSW 2 168,412,992 (GRCm39) missense probably damaging 0.98
R5138:Nfatc2 UTSW 2 168,378,229 (GRCm39) missense probably damaging 1.00
R5145:Nfatc2 UTSW 2 168,431,987 (GRCm39) missense probably benign 0.25
R5185:Nfatc2 UTSW 2 168,412,627 (GRCm39) missense possibly damaging 0.48
R5444:Nfatc2 UTSW 2 168,376,810 (GRCm39) intron probably benign
R5496:Nfatc2 UTSW 2 168,378,198 (GRCm39) missense probably damaging 1.00
R5728:Nfatc2 UTSW 2 168,322,169 (GRCm39) missense probably benign
R5791:Nfatc2 UTSW 2 168,378,313 (GRCm39) missense probably benign 0.28
R6102:Nfatc2 UTSW 2 168,361,427 (GRCm39) intron probably benign
R6157:Nfatc2 UTSW 2 168,361,371 (GRCm39) intron probably benign
R6187:Nfatc2 UTSW 2 168,322,158 (GRCm39) missense probably benign 0.13
R7116:Nfatc2 UTSW 2 168,349,269 (GRCm39) missense probably benign 0.04
R7218:Nfatc2 UTSW 2 168,413,184 (GRCm39) missense probably benign 0.01
R7470:Nfatc2 UTSW 2 168,365,227 (GRCm39) nonsense probably null
R7594:Nfatc2 UTSW 2 168,365,268 (GRCm39) missense probably damaging 1.00
R7618:Nfatc2 UTSW 2 168,376,919 (GRCm39) missense probably damaging 1.00
R7653:Nfatc2 UTSW 2 168,413,065 (GRCm39) missense probably benign 0.01
R8425:Nfatc2 UTSW 2 168,378,216 (GRCm39) missense probably damaging 1.00
R8485:Nfatc2 UTSW 2 168,432,012 (GRCm39) missense probably damaging 1.00
R8791:Nfatc2 UTSW 2 168,378,214 (GRCm39) missense probably damaging 0.99
R9024:Nfatc2 UTSW 2 168,328,648 (GRCm39) makesense probably null
R9442:Nfatc2 UTSW 2 168,328,898 (GRCm39) intron probably benign
R9519:Nfatc2 UTSW 2 168,412,678 (GRCm39) missense probably benign
Z1176:Nfatc2 UTSW 2 168,413,269 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2017-05-11