Incidental Mutation 'IGL02303:Nfatc2'
ID 287475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfatc2
Ensembl Gene ENSMUSG00000027544
Gene Name nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2
Synonyms NFAT1, NFAT1-D, NFATp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02303
Quality Score
Status
Chromosome 2
Chromosomal Location 168318330-168443577 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 168348821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 669 (R669*)
Ref Sequence ENSEMBL: ENSMUSP00000104812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074618] [ENSMUST00000109184]
AlphaFold Q60591
Predicted Effect probably null
Transcript: ENSMUST00000074618
AA Change: R669*
SMART Domains Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: R669*

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 probably null
Transcript: ENSMUST00000109184
AA Change: R669*
SMART Domains Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: R669*

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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,045,376 (GRCm39) F319S probably damaging Het
Ap3b1 A G 13: 94,664,827 (GRCm39) D922G unknown Het
Bhlhe41 A T 6: 145,809,882 (GRCm39) H107Q probably damaging Het
Csmd2 C A 4: 128,262,801 (GRCm39) H662Q probably benign Het
Dnah8 T C 17: 30,932,021 (GRCm39) V1463A probably benign Het
Ebf3 A T 7: 136,911,094 (GRCm39) V140E probably benign Het
Havcr2 T A 11: 46,370,108 (GRCm39) probably benign Het
Hexb G A 13: 97,313,401 (GRCm39) A485V probably damaging Het
Igkv5-37 T A 6: 69,940,473 (GRCm39) Q57L probably damaging Het
Ipo5 T A 14: 121,154,795 (GRCm39) S40T probably benign Het
Kcnj8 A G 6: 142,515,837 (GRCm39) M90T probably benign Het
Kif21b T A 1: 136,087,495 (GRCm39) L937Q probably damaging Het
Kmt2c A C 5: 25,515,155 (GRCm39) L2896R probably damaging Het
Ldlrap1 A T 4: 134,484,706 (GRCm39) I96N probably damaging Het
Leo1 A G 9: 75,353,281 (GRCm39) probably benign Het
Mbnl2 T C 14: 120,642,059 (GRCm39) M341T probably benign Het
Nhlrc2 T A 19: 56,563,280 (GRCm39) V293E probably damaging Het
Or1e17 T C 11: 73,831,276 (GRCm39) F68S possibly damaging Het
Or2at1 A G 7: 99,417,179 (GRCm39) D270G possibly damaging Het
Or51ag1 A T 7: 103,155,295 (GRCm39) M286K probably benign Het
Or51ai2 A G 7: 103,586,770 (GRCm39) Q61R possibly damaging Het
Otoa T A 7: 120,732,147 (GRCm39) probably null Het
Pcnt T C 10: 76,278,393 (GRCm39) probably benign Het
Recql4 G T 15: 76,592,771 (GRCm39) Q307K possibly damaging Het
Sp140 T A 1: 85,570,730 (GRCm39) Y453* probably null Het
Sspo G A 6: 48,461,639 (GRCm39) V3600I possibly damaging Het
Sybu T C 15: 44,536,619 (GRCm39) E441G probably benign Het
Syne3 A T 12: 104,929,553 (GRCm39) H222Q probably damaging Het
Tef T C 15: 81,705,496 (GRCm39) V173A probably benign Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tmod4 C A 3: 95,032,953 (GRCm39) Q30K probably benign Het
Tpgs1 T C 10: 79,511,322 (GRCm39) Y155H probably damaging Het
Trib3 G A 2: 152,185,070 (GRCm39) P60S probably benign Het
Ttn T A 2: 76,560,550 (GRCm39) T20957S probably damaging Het
Vars1 T C 17: 35,234,460 (GRCm39) probably benign Het
Vps13c T C 9: 67,852,763 (GRCm39) probably benign Het
Zc3h4 T C 7: 16,168,002 (GRCm39) S704P unknown Het
Zfp644 G A 5: 106,785,180 (GRCm39) R456W probably 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
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
R3176:Nfatc2 UTSW 2 168,348,914 (GRCm39) missense possibly damaging 0.51
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
Posted On 2015-04-16