Incidental Mutation 'R7214:Nfat5'
ID 561310
Institutional Source Beutler Lab
Gene Symbol Nfat5
Ensembl Gene ENSMUSG00000003847
Gene Name nuclear factor of activated T cells 5
Synonyms OREBP, B130038B15Rik, nfatz, TonEBP
MMRRC Submission 045286-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R7214 (G1)
Quality Score 158.009
Status Not validated
Chromosome 8
Chromosomal Location 108020102-108106149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108020515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 20 (S20P)
Ref Sequence ENSEMBL: ENSMUSP00000119370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075922] [ENSMUST00000125721] [ENSMUST00000133026] [ENSMUST00000151114] [ENSMUST00000154474] [ENSMUST00000169453]
AlphaFold Q9WV30
Predicted Effect probably damaging
Transcript: ENSMUST00000075922
AA Change: S20P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
AA Change: S20P

DomainStartEndE-ValueType
low complexity region 52 98 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
Pfam:RHD 282 439 7.8e-23 PFAM
IPT 444 542 3.33e-15 SMART
low complexity region 647 653 N/A INTRINSIC
low complexity region 734 754 N/A INTRINSIC
low complexity region 793 810 N/A INTRINSIC
low complexity region 898 910 N/A INTRINSIC
low complexity region 915 920 N/A INTRINSIC
low complexity region 963 977 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125721
AA Change: S20P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
AA Change: S20P

DomainStartEndE-ValueType
low complexity region 52 98 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
Pfam:RHD 282 439 1e-22 PFAM
IPT 444 542 3.33e-15 SMART
low complexity region 647 653 N/A INTRINSIC
low complexity region 734 754 N/A INTRINSIC
low complexity region 793 810 N/A INTRINSIC
low complexity region 898 910 N/A INTRINSIC
low complexity region 915 920 N/A INTRINSIC
low complexity region 963 977 N/A INTRINSIC
internal_repeat_2 1003 1186 2.22e-8 PROSPERO
internal_repeat_1 1011 1204 5.31e-12 PROSPERO
internal_repeat_2 1198 1400 2.22e-8 PROSPERO
internal_repeat_1 1283 1502 5.31e-12 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000133026
AA Change: S20P

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116631
Gene: ENSMUSG00000003847
AA Change: S20P

DomainStartEndE-ValueType
low complexity region 70 88 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151114
AA Change: S20P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
AA Change: S20P

DomainStartEndE-ValueType
low complexity region 70 116 N/A INTRINSIC
low complexity region 197 210 N/A INTRINSIC
Pfam:RHD_DNA_bind 300 457 1.1e-22 PFAM
IPT 462 560 3.33e-15 SMART
low complexity region 665 671 N/A INTRINSIC
low complexity region 752 772 N/A INTRINSIC
low complexity region 811 828 N/A INTRINSIC
low complexity region 916 928 N/A INTRINSIC
low complexity region 933 938 N/A INTRINSIC
low complexity region 981 995 N/A INTRINSIC
internal_repeat_2 1021 1204 2.24e-8 PROSPERO
internal_repeat_1 1029 1222 5.32e-12 PROSPERO
internal_repeat_2 1216 1418 2.24e-8 PROSPERO
internal_repeat_1 1301 1520 5.32e-12 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000154474
AA Change: S20P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115036
Gene: ENSMUSG00000003847
AA Change: S20P

DomainStartEndE-ValueType
low complexity region 52 70 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169453
AA Change: S20P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
AA Change: S20P

DomainStartEndE-ValueType
low complexity region 70 116 N/A INTRINSIC
low complexity region 197 210 N/A INTRINSIC
Pfam:RHD_DNA_bind 300 457 1.1e-22 PFAM
IPT 462 560 3.33e-15 SMART
low complexity region 665 671 N/A INTRINSIC
low complexity region 752 772 N/A INTRINSIC
low complexity region 811 828 N/A INTRINSIC
low complexity region 916 928 N/A INTRINSIC
low complexity region 933 938 N/A INTRINSIC
low complexity region 981 995 N/A INTRINSIC
internal_repeat_2 1021 1204 2.24e-8 PROSPERO
internal_repeat_1 1029 1222 5.32e-12 PROSPERO
internal_repeat_2 1216 1418 2.24e-8 PROSPERO
internal_repeat_1 1301 1520 5.32e-12 PROSPERO
Meta Mutation Damage Score 0.0829 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one of several knock-out allele exhibit lethality between E14.5 and E17.5 as well as around P10 with kidney, cardiac or immune defects depending on the allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 C T 8: 95,660,646 (GRCm39) T95I Het
Arap2 C T 5: 62,906,681 (GRCm39) V113I probably benign Het
Atraid C T 5: 31,209,590 (GRCm39) Q85* probably null Het
Bcdin3d T C 15: 99,368,344 (GRCm39) D285G probably benign Het
Bmal1 T A 7: 112,898,610 (GRCm39) I346K probably benign Het
Carmil3 T C 14: 55,736,069 (GRCm39) W604R probably damaging Het
Ccl6 C T 11: 83,480,582 (GRCm39) probably null Het
Cct4 C T 11: 22,940,616 (GRCm39) probably benign Het
Cd2ap C T 17: 43,156,285 (GRCm39) R84Q possibly damaging Het
Cdt1 T A 8: 123,295,012 (GRCm39) probably null Het
Cln3 C T 7: 126,181,942 (GRCm39) G40D probably damaging Het
Crlf3 T C 11: 79,955,216 (GRCm39) S47G possibly damaging Het
Csrp3 T C 7: 48,480,385 (GRCm39) K193R probably benign Het
Cxcl3 A C 5: 90,934,219 (GRCm39) E33A probably damaging Het
Cyp11b1 T C 15: 74,708,708 (GRCm39) D362G probably benign Het
Dnah2 T C 11: 69,321,935 (GRCm39) D3795G probably damaging Het
Dnah3 G A 7: 119,521,965 (GRCm39) A4076V probably damaging Het
Dnaja3 T A 16: 4,519,046 (GRCm39) I380N possibly damaging Het
Dock10 T A 1: 80,546,246 (GRCm39) H785L probably benign Het
Dop1b T G 16: 93,607,023 (GRCm39) F2226V possibly damaging Het
Dscaml1 A T 9: 45,581,437 (GRCm39) I419F probably benign Het
Dyrk4 T A 6: 126,862,200 (GRCm39) I431F probably benign Het
Endog C T 2: 30,062,902 (GRCm39) R181C probably damaging Het
Fam90a1a A T 8: 22,453,641 (GRCm39) Y332F probably benign Het
Fastkd3 T C 13: 68,737,499 (GRCm39) I588T probably benign Het
Galnt9 G A 5: 110,737,694 (GRCm39) V217I probably benign Het
Gm973 A T 1: 59,601,888 (GRCm39) R501* probably null Het
Gnptab C T 10: 88,215,019 (GRCm39) probably benign Het
Gpn1 T C 5: 31,660,761 (GRCm39) F184S probably damaging Het
Imp3 G T 9: 56,845,007 (GRCm39) V73L probably benign Het
Ipo11 T C 13: 107,032,365 (GRCm39) D259G probably null Het
Jag1 T C 2: 136,948,802 (GRCm39) S142G probably benign Het
Klhl5 A T 5: 65,289,098 (GRCm39) E120V probably benign Het
Lct C A 1: 128,228,197 (GRCm39) V1099L probably benign Het
Lrba G C 3: 86,235,633 (GRCm39) W912C probably damaging Het
Lss C T 10: 76,383,305 (GRCm39) T535I probably damaging Het
Mcts2 T C 2: 152,529,297 (GRCm39) I36T probably benign Het
Meikin T A 11: 54,302,738 (GRCm39) N383K probably benign Het
Myo1g T C 11: 6,461,055 (GRCm39) Y663C probably damaging Het
Nadk2 T A 15: 9,108,342 (GRCm39) M419K probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp1a C T 11: 71,014,119 (GRCm39) C377Y probably damaging Het
Nlrp9a T C 7: 26,250,463 (GRCm39) V76A probably damaging Het
Nrap C A 19: 56,366,567 (GRCm39) A341S probably benign Het
Ntng2 T C 2: 29,117,732 (GRCm39) S239G probably damaging Het
Nup188 T A 2: 30,197,566 (GRCm39) C207S possibly damaging Het
Or10a4 T C 7: 106,697,619 (GRCm39) *316R probably null Het
Or10ak7 T A 4: 118,791,146 (GRCm39) I300F possibly damaging Het
Or1j17 T C 2: 36,578,107 (GRCm39) I31T probably benign Het
Or2ag1 T C 7: 106,473,474 (GRCm39) probably benign Het
Or5b118 T A 19: 13,448,337 (GRCm39) M1K probably null Het
Or8c13 A C 9: 38,091,318 (GRCm39) V267G probably damaging Het
Or8k31-ps1 C T 2: 86,356,150 (GRCm39) V124I probably damaging Het
Pcdhgb2 C A 18: 37,823,159 (GRCm39) A50E probably damaging Het
Pgap1 A T 1: 54,582,220 (GRCm39) M209K possibly damaging Het
Plbd1 T A 6: 136,589,829 (GRCm39) D463V probably damaging Het
Plcg2 T A 8: 118,310,288 (GRCm39) I380N probably damaging Het
Pnpt1 T C 11: 29,087,285 (GRCm39) W184R probably damaging Het
Pptc7 G A 5: 122,451,840 (GRCm39) V202I probably benign Het
Prpf6 C T 2: 181,282,389 (GRCm39) A510V probably damaging Het
Prr5l T C 2: 101,559,777 (GRCm39) Y235C probably benign Het
Ptprk T C 10: 28,450,905 (GRCm39) V1022A probably benign Het
Rbl2 T C 8: 91,810,057 (GRCm39) probably null Het
Rmnd1 T C 10: 4,360,753 (GRCm39) K348E probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Sacs T A 14: 61,429,241 (GRCm39) N433K probably benign Het
Scyl1 T C 19: 5,810,057 (GRCm39) T590A probably benign Het
Sdhd A G 9: 50,508,533 (GRCm39) V111A possibly damaging Het
Sec24b G T 3: 129,827,509 (GRCm39) P330Q probably benign Het
Serpinb6d C T 13: 33,848,128 (GRCm39) P31S probably damaging Het
Slc26a9 A T 1: 131,687,211 (GRCm39) R457W probably damaging Het
Slc5a8 G A 10: 88,755,364 (GRCm39) M490I probably benign Het
Slx4 A G 16: 3,806,844 (GRCm39) I533T probably benign Het
Slx4ip T A 2: 136,888,650 (GRCm39) F110L probably benign Het
Smchd1 T C 17: 71,652,359 (GRCm39) R2000G probably benign Het
Snx8 T C 5: 140,346,008 (GRCm39) E75G possibly damaging Het
Stab2 C A 10: 86,735,705 (GRCm39) C1292F probably damaging Het
Swt1 A T 1: 151,270,364 (GRCm39) M617K possibly damaging Het
Thoc2l A G 5: 104,670,229 (GRCm39) T1584A probably benign Het
Tiam2 T A 17: 3,568,687 (GRCm39) I1611N possibly damaging Het
Tmem63b T G 17: 45,972,748 (GRCm39) N682T probably benign Het
Trio C T 15: 27,871,273 (GRCm39) V674M probably damaging Het
Trpc3 G A 3: 36,704,286 (GRCm39) T557M possibly damaging Het
Vac14 T G 8: 111,397,674 (GRCm39) L463R probably damaging Het
Vmn2r43 C T 7: 8,256,379 (GRCm39) probably null Het
Wdr49 A T 3: 75,265,751 (GRCm39) Y232N possibly damaging Het
Wdr90 T C 17: 26,064,367 (GRCm39) M1835V probably benign Het
Xpc T C 6: 91,469,320 (GRCm39) E809G probably damaging Het
Zfhx3 A T 8: 109,675,493 (GRCm39) Q2181L probably damaging Het
Zfp442 T C 2: 150,251,201 (GRCm39) T234A probably benign Het
Zfp764 A T 7: 127,004,450 (GRCm39) M227K probably benign Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp957 A G 14: 79,450,750 (GRCm39) S350P unknown Het
Zscan29 T A 2: 120,999,761 (GRCm39) K147* probably null Het
Other mutations in Nfat5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Nfat5 APN 8 108,094,146 (GRCm39) missense probably damaging 1.00
IGL01145:Nfat5 APN 8 108,093,847 (GRCm39) missense probably damaging 0.99
IGL01700:Nfat5 APN 8 108,065,762 (GRCm39) missense probably damaging 0.99
IGL01721:Nfat5 APN 8 108,071,611 (GRCm39) critical splice donor site probably null
IGL01796:Nfat5 APN 8 108,094,273 (GRCm39) missense probably damaging 1.00
IGL01976:Nfat5 APN 8 108,094,191 (GRCm39) missense probably damaging 1.00
IGL02063:Nfat5 APN 8 108,088,450 (GRCm39) missense probably benign 0.03
IGL02150:Nfat5 APN 8 108,094,584 (GRCm39) nonsense probably null
IGL02174:Nfat5 APN 8 108,065,683 (GRCm39) missense probably damaging 1.00
IGL02224:Nfat5 APN 8 108,071,447 (GRCm39) missense probably benign 0.00
IGL02226:Nfat5 APN 8 108,078,154 (GRCm39) nonsense probably null
IGL02324:Nfat5 APN 8 108,092,808 (GRCm39) splice site probably benign
IGL02724:Nfat5 APN 8 108,085,367 (GRCm39) missense probably damaging 0.97
fettfeld UTSW 8 108,074,359 (GRCm39) missense probably damaging 1.00
Grunefeld UTSW 8 108,082,140 (GRCm39) splice site probably null
Kleinfeld UTSW 8 108,078,070 (GRCm39) missense probably damaging 1.00
Lisa UTSW 8 108,074,321 (GRCm39) missense probably damaging 1.00
viola UTSW 8 108,085,300 (GRCm39) missense probably damaging 1.00
H8562:Nfat5 UTSW 8 108,066,014 (GRCm39) splice site probably benign
R0003:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0117:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0118:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0119:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0135:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0138:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0141:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0302:Nfat5 UTSW 8 108,085,333 (GRCm39) missense probably damaging 1.00
R0420:Nfat5 UTSW 8 108,094,093 (GRCm39) missense probably damaging 1.00
R0613:Nfat5 UTSW 8 108,092,927 (GRCm39) missense possibly damaging 0.83
R0691:Nfat5 UTSW 8 108,082,237 (GRCm39) missense probably damaging 1.00
R0743:Nfat5 UTSW 8 108,094,698 (GRCm39) missense probably damaging 1.00
R1329:Nfat5 UTSW 8 108,095,659 (GRCm39) missense probably benign 0.42
R1550:Nfat5 UTSW 8 108,097,205 (GRCm39) missense probably damaging 0.99
R1590:Nfat5 UTSW 8 108,020,522 (GRCm39) missense probably damaging 1.00
R1778:Nfat5 UTSW 8 108,088,421 (GRCm39) missense probably damaging 1.00
R1827:Nfat5 UTSW 8 108,093,966 (GRCm39) missense probably benign 0.00
R1918:Nfat5 UTSW 8 108,092,868 (GRCm39) missense probably damaging 0.97
R2679:Nfat5 UTSW 8 108,071,546 (GRCm39) missense probably damaging 1.00
R2850:Nfat5 UTSW 8 108,020,492 (GRCm39) missense probably damaging 1.00
R3703:Nfat5 UTSW 8 108,078,053 (GRCm39) splice site probably benign
R3966:Nfat5 UTSW 8 108,093,921 (GRCm39) missense possibly damaging 0.47
R4301:Nfat5 UTSW 8 108,082,327 (GRCm39) intron probably benign
R4596:Nfat5 UTSW 8 108,078,132 (GRCm39) missense possibly damaging 0.93
R4602:Nfat5 UTSW 8 108,093,855 (GRCm39) nonsense probably null
R4627:Nfat5 UTSW 8 108,095,908 (GRCm39) missense probably damaging 1.00
R4917:Nfat5 UTSW 8 108,051,284 (GRCm39) missense probably damaging 1.00
R4918:Nfat5 UTSW 8 108,051,284 (GRCm39) missense probably damaging 1.00
R5089:Nfat5 UTSW 8 108,078,070 (GRCm39) missense probably damaging 1.00
R5495:Nfat5 UTSW 8 108,095,079 (GRCm39) missense probably benign 0.03
R5566:Nfat5 UTSW 8 108,095,767 (GRCm39) missense possibly damaging 0.47
R5851:Nfat5 UTSW 8 108,074,359 (GRCm39) missense probably damaging 1.00
R6012:Nfat5 UTSW 8 108,093,765 (GRCm39) missense probably benign 0.09
R6018:Nfat5 UTSW 8 108,082,283 (GRCm39) critical splice donor site probably null
R6364:Nfat5 UTSW 8 108,094,909 (GRCm39) missense probably benign 0.00
R6404:Nfat5 UTSW 8 108,097,220 (GRCm39) missense probably benign 0.01
R6466:Nfat5 UTSW 8 108,082,140 (GRCm39) splice site probably null
R7056:Nfat5 UTSW 8 108,094,738 (GRCm39) missense probably damaging 1.00
R7105:Nfat5 UTSW 8 108,095,823 (GRCm39) missense possibly damaging 0.88
R7128:Nfat5 UTSW 8 108,085,323 (GRCm39) missense probably benign 0.10
R7276:Nfat5 UTSW 8 108,093,731 (GRCm39) missense probably benign 0.25
R7560:Nfat5 UTSW 8 108,097,221 (GRCm39) missense probably benign 0.15
R7844:Nfat5 UTSW 8 108,085,300 (GRCm39) missense probably damaging 1.00
R7993:Nfat5 UTSW 8 108,082,134 (GRCm39) splice site probably null
R8407:Nfat5 UTSW 8 108,094,047 (GRCm39) nonsense probably null
R8428:Nfat5 UTSW 8 108,095,152 (GRCm39) missense probably damaging 0.96
R8798:Nfat5 UTSW 8 108,074,321 (GRCm39) missense probably damaging 1.00
R8919:Nfat5 UTSW 8 108,095,228 (GRCm39) missense probably damaging 0.99
R9067:Nfat5 UTSW 8 108,094,536 (GRCm39) missense probably benign 0.07
R9123:Nfat5 UTSW 8 108,078,141 (GRCm39) missense probably damaging 0.97
R9226:Nfat5 UTSW 8 108,095,401 (GRCm39) missense probably damaging 1.00
R9351:Nfat5 UTSW 8 108,065,910 (GRCm39) missense probably damaging 1.00
X0022:Nfat5 UTSW 8 108,074,388 (GRCm39) nonsense probably null
Z1177:Nfat5 UTSW 8 108,065,474 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTCTGGTCTCTGGACTCAC -3'
(R):5'- TTGCCAAAGAGGAGAGTCCG -3'

Sequencing Primer
(F):5'- AGTTCTCCACTCCGCAGAG -3'
(R):5'- TTGCGAACCTCCGGGAC -3'
Posted On 2019-06-26