Incidental Mutation 'IGL03002:Nfatc2'
ID 407386
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 # IGL03002
Quality Score
Status
Chromosome 2
Chromosomal Location 168318330-168443577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 168376904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 329 (V329M)
Ref Sequence ENSEMBL: ENSMUSP00000130875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029057] [ENSMUST00000074618] [ENSMUST00000109184] [ENSMUST00000137451] [ENSMUST00000171689]
AlphaFold Q60591
Predicted Effect probably damaging
Transcript: ENSMUST00000029057
AA Change: V550M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: V550M

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 2.6e-24 PFAM
Blast:IPT 579 618 8e-19 BLAST
SCOP:d1imhc1 579 619 3e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074618
AA Change: V550M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: V550M

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 noncoding transcript
Transcript: ENSMUST00000099067
Predicted Effect probably damaging
Transcript: ENSMUST00000109184
AA Change: V550M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: V550M

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 probably damaging
Transcript: ENSMUST00000137451
AA Change: V530M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: V530M

DomainStartEndE-ValueType
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 167 N/A INTRINSIC
low complexity region 216 235 N/A INTRINSIC
low complexity region 247 263 N/A INTRINSIC
Pfam:RHD 392 552 7.9e-25 PFAM
Blast:IPT 559 598 8e-19 BLAST
SCOP:d1imhc1 559 599 2e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140137
Predicted Effect probably damaging
Transcript: ENSMUST00000171689
AA Change: V329M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: V329M

DomainStartEndE-ValueType
low complexity region 15 34 N/A INTRINSIC
low complexity region 46 62 N/A INTRINSIC
Pfam:RHD 191 351 1.3e-24 PFAM
Blast:IPT 358 397 4e-19 BLAST
SCOP:d1imhc1 358 398 1e-9 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
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V 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
IGL02303:Nfatc2 APN 2 168,348,821 (GRCm39) nonsense probably null
IGL02887:Nfatc2 APN 2 168,346,370 (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 2016-08-02