Incidental Mutation 'R6102:Nfatc2'
ID 485291
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 044252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 168318330-168443577 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 168361427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029057] [ENSMUST00000074618] [ENSMUST00000109184] [ENSMUST00000137451] [ENSMUST00000171689]
AlphaFold Q60591
Predicted Effect unknown
Transcript: ENSMUST00000029057
AA Change: I634T
SMART Domains Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: I634T

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
SMART Domains Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544

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
SMART Domains Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544

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 unknown
Transcript: ENSMUST00000137451
AA Change: I614T
SMART Domains Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: I614T

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: ENSMUST00000151292
Predicted Effect unknown
Transcript: ENSMUST00000171689
AA Change: I413T
SMART Domains Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: I413T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P 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
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
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'- TGGCTTCCCAGTAAGAGGAG -3'
(R):5'- TGTCCACTGAAACGGGCTTG -3'

Sequencing Primer
(F):5'- CTTCCCAGTAAGAGGAGACACAG -3'
(R):5'- TGAAACGGGCTTGGCACTG -3'
Posted On 2017-08-16