Incidental Mutation 'R5791:Nfatc2'
ID 446960
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 043207-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5791 (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 A at 168378313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 451 (M451L)
Ref Sequence ENSEMBL: ENSMUSP00000104812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029057] [ENSMUST00000074618] [ENSMUST00000109184] [ENSMUST00000137451] [ENSMUST00000171689]
AlphaFold Q60591
Predicted Effect probably benign
Transcript: ENSMUST00000029057
AA Change: M451L

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: M451L

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 benign
Transcript: ENSMUST00000074618
AA Change: M451L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: M451L

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 benign
Transcript: ENSMUST00000109184
AA Change: M451L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: M451L

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 benign
Transcript: ENSMUST00000137451
AA Change: M431L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: M431L

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 benign
Transcript: ENSMUST00000171689
AA Change: M230L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: M230L

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cdh4 T C 2: 179,537,560 (GRCm39) V864A probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gas6 A G 8: 13,520,217 (GRCm39) probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,639 (GRCm39) S276P probably benign Het
Lrrd1 T C 5: 3,901,254 (GRCm39) S520P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Retreg3 A G 11: 100,991,769 (GRCm39) S55P probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Vwde C A 6: 13,195,985 (GRCm39) E347* probably null Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown 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
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
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 PCR Primer
(F):5'- ACGTGGCTCTCATGTTGTTC -3'
(R):5'- AGTGGCTAAGCAGTTTCTCC -3'

Sequencing Primer
(F):5'- CTTTGGCTCCAGGGGGATCTC -3'
(R):5'- ATGCCCTAGAACTGGTGTCACAG -3'
Posted On 2016-12-15