Incidental Mutation 'R5851:Nfat5'
ID 454678
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 044067-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R5851 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108020102-108106149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108074359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 338 (V338L)
Ref Sequence ENSEMBL: ENSMUSP00000116094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075922] [ENSMUST00000077440] [ENSMUST00000125721] [ENSMUST00000133026] [ENSMUST00000144100] [ENSMUST00000151114] [ENSMUST00000169453] [ENSMUST00000154474]
AlphaFold Q9WV30
Predicted Effect probably damaging
Transcript: ENSMUST00000075922
AA Change: V338L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
AA Change: V338L

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: ENSMUST00000077440
AA Change: V262L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
AA Change: V262L

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
low complexity region 103 116 N/A INTRINSIC
Pfam:RHD 206 363 1.5e-22 PFAM
IPT 368 466 3.33e-15 SMART
low complexity region 571 577 N/A INTRINSIC
low complexity region 658 678 N/A INTRINSIC
low complexity region 717 734 N/A INTRINSIC
low complexity region 822 834 N/A INTRINSIC
low complexity region 839 844 N/A INTRINSIC
low complexity region 887 901 N/A INTRINSIC
internal_repeat_2 927 1110 7.13e-8 PROSPERO
internal_repeat_1 935 1128 2.59e-11 PROSPERO
internal_repeat_2 1122 1324 7.13e-8 PROSPERO
internal_repeat_1 1207 1426 2.59e-11 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000125721
AA Change: V338L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
AA Change: V338L

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 unknown
Transcript: ENSMUST00000126333
AA Change: V85L
SMART Domains Protein: ENSMUSP00000118130
Gene: ENSMUSG00000003847
AA Change: V85L

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 30 132 6.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126397
Predicted Effect probably benign
Transcript: ENSMUST00000133026
SMART Domains Protein: ENSMUSP00000116631
Gene: ENSMUSG00000003847

DomainStartEndE-ValueType
low complexity region 70 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148006
Predicted Effect probably damaging
Transcript: ENSMUST00000151114
AA Change: V356L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
AA Change: V356L

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: ENSMUST00000169453
AA Change: V356L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
AA Change: V356L

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 benign
Transcript: ENSMUST00000154474
SMART Domains Protein: ENSMUSP00000115036
Gene: ENSMUSG00000003847

DomainStartEndE-ValueType
low complexity region 52 70 N/A INTRINSIC
Meta Mutation Damage Score 0.1119 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,332,322 (GRCm39) N1452D possibly damaging Het
Abhd15 T C 11: 77,409,273 (GRCm39) L329P probably benign Het
Add3 T C 19: 53,225,205 (GRCm39) S442P probably damaging Het
Arhgef18 T C 8: 3,484,980 (GRCm39) F228L probably damaging Het
Bptf A T 11: 107,001,688 (GRCm39) Y475N probably damaging Het
C3 T C 17: 57,518,612 (GRCm39) N1257S probably null Het
Cdkl1 A T 12: 69,803,338 (GRCm39) Y179* probably null Het
Ceacam1 T C 7: 25,174,025 (GRCm39) N210S possibly damaging Het
Celf3 T A 3: 94,386,433 (GRCm39) I7N probably damaging Het
Clxn T A 16: 14,738,300 (GRCm39) L155H probably damaging Het
Cmpk1 A G 4: 114,844,167 (GRCm39) V55A possibly damaging Het
Csrnp1 C T 9: 119,802,144 (GRCm39) G305D possibly damaging Het
Dnah3 A G 7: 119,638,585 (GRCm39) S1266P possibly damaging Het
Edc4 T C 8: 106,617,499 (GRCm39) L1077P probably damaging Het
Fam174a G A 1: 95,252,868 (GRCm39) G157S probably damaging Het
Fubp3 T A 2: 31,488,622 (GRCm39) D159E probably benign Het
Garem2 C T 5: 30,319,288 (GRCm39) T250M probably damaging Het
H2-Eb1 C T 17: 34,528,745 (GRCm39) P92L probably benign Het
Ifnl3 G T 7: 28,222,936 (GRCm39) C69F probably damaging Het
Itga2b C A 11: 102,348,427 (GRCm39) probably benign Het
Klhl33 A T 14: 51,130,335 (GRCm39) D386E probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Loricrin G A 3: 91,987,846 (GRCm39) A480V unknown Het
Msh3 G T 13: 92,352,030 (GRCm39) Q1041K probably benign Het
Mtrex G A 13: 113,045,486 (GRCm39) R349W probably damaging Het
Myo1e G A 9: 70,291,086 (GRCm39) G959E probably benign Het
Nrf1 A G 6: 30,089,975 (GRCm39) H18R possibly damaging Het
Nup160 A G 2: 90,537,382 (GRCm39) D752G probably benign Het
Obscn A T 11: 58,885,526 (GRCm39) L2489* probably null Het
Or4p22 A G 2: 88,317,204 (GRCm39) I43V possibly damaging Het
Or51q1c A G 7: 103,652,659 (GRCm39) E59G probably benign Het
Paip1 T C 13: 119,577,301 (GRCm39) S215P possibly damaging Het
Pate2 T A 9: 35,581,797 (GRCm39) Y26* probably null Het
Pcdhb10 A G 18: 37,545,811 (GRCm39) I296V probably benign Het
Pdzph1 T G 17: 59,280,741 (GRCm39) T514P probably benign Het
Pnlip G A 19: 58,662,224 (GRCm39) W123* probably null Het
Prmt2 C A 10: 76,072,574 (GRCm39) C9F possibly damaging Het
Rbl1 T A 2: 157,009,245 (GRCm39) K763N probably benign Het
Rfk C T 19: 17,372,562 (GRCm39) A28V probably damaging Het
Scart1 C T 7: 139,807,940 (GRCm39) P704S possibly damaging Het
Sdk1 G A 5: 141,948,424 (GRCm39) V590I probably benign Het
Sele A G 1: 163,877,143 (GRCm39) K140E probably benign Het
Sla G A 15: 66,655,572 (GRCm39) T189I probably damaging Het
Slc46a2 A G 4: 59,913,906 (GRCm39) V339A probably damaging Het
Slc5a9 A G 4: 111,742,797 (GRCm39) F432L probably benign Het
Slc6a19 A G 13: 73,839,859 (GRCm39) F141S possibly damaging Het
Tas2r123 T C 6: 132,824,271 (GRCm39) L56S probably damaging Het
Tektip1 A T 10: 81,200,711 (GRCm39) probably null Het
Tmem245 T C 4: 56,916,770 (GRCm39) I53V probably benign Het
Tor2a A T 2: 32,651,619 (GRCm39) Q278L probably benign Het
Trav6-3 A G 14: 53,667,572 (GRCm39) M15V probably benign Het
Ttc28 G A 5: 111,383,335 (GRCm39) probably benign Het
Ubap2 G A 4: 41,206,268 (GRCm39) Q534* probably null Het
Yju2 C T 17: 56,274,582 (GRCm39) S298F probably damaging Het
Zfp954 C A 7: 7,118,624 (GRCm39) E307* probably null Het
Zscan21 A G 5: 138,124,740 (GRCm39) K219E probably benign 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
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
R7214:Nfat5 UTSW 8 108,020,515 (GRCm39) missense probably damaging 0.99
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'- AGCCATCTCTCCAGTGTTCC -3'
(R):5'- AGCCATGTATGCAGCCAGAA -3'

Sequencing Primer
(F):5'- ACTAGCCTAGCATTTGTGAGC -3'
(R):5'- CCAGTGTCATGTTGTTGC -3'
Posted On 2017-02-10