Incidental Mutation 'R0521:Nfatc2ip'
ID 48544
Institutional Source Beutler Lab
Gene Symbol Nfatc2ip
Ensembl Gene ENSMUSG00000030722
Gene Name nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein
Synonyms NIP45, D7Ertd304e
MMRRC Submission 038714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R0521 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 125982026-125995909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 125995751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 46 (D46A)
Ref Sequence ENSEMBL: ENSMUSP00000075094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075671]
AlphaFold O09130
PDB Structure The crystal structure of SUMO-like domain 2 in Nip45 [X-RAY DIFFRACTION]
The crystal structure of the SLD2:Ubc9 complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075671
AA Change: D46A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: D46A

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
low complexity region 43 58 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
low complexity region 95 106 N/A INTRINSIC
low complexity region 169 184 N/A INTRINSIC
coiled coil region 199 227 N/A INTRINSIC
UBQ 258 328 1.31e-8 SMART
low complexity region 329 338 N/A INTRINSIC
Pfam:Rad60-SLD 341 411 3.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206502
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display profound defects in the expression of NFAT-regulated cytokine genes and defects in the efficient handling of parasites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,182,464 (GRCm39) S335T probably damaging Het
Abcb1b G A 5: 8,914,238 (GRCm39) A1203T probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Angel1 G A 12: 86,769,681 (GRCm39) S193F probably benign Het
Ankrd16 T C 2: 11,794,692 (GRCm39) V359A probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Bpifa5 C A 2: 154,008,869 (GRCm39) D223E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Ccm2 G A 11: 6,540,886 (GRCm39) S184N probably damaging Het
Ces5a T A 8: 94,252,286 (GRCm39) D202V probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Cog7 C A 7: 121,540,392 (GRCm39) probably null Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Cps1 A C 1: 67,254,723 (GRCm39) D1304A probably benign Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Ctdspl2 T A 2: 121,837,368 (GRCm39) C377* probably null Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Ddost A G 4: 138,038,046 (GRCm39) T262A probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Ddx54 A G 5: 120,764,927 (GRCm39) I769V probably benign Het
Dock1 T A 7: 134,745,507 (GRCm39) I1463N probably benign Het
Dsg3 T A 18: 20,660,872 (GRCm39) Y404N possibly damaging Het
Epb42 T A 2: 120,859,631 (GRCm39) K186* probably null Het
Farp2 A G 1: 93,504,543 (GRCm39) probably null Het
Fbxl9 A T 8: 106,039,425 (GRCm39) L617Q probably damaging Het
Fev C A 1: 74,921,692 (GRCm39) R86L possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Foxn3 A G 12: 99,175,765 (GRCm39) V261A probably benign Het
Fsd1 A G 17: 56,298,245 (GRCm39) D190G probably benign Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Gsdma2 A T 11: 98,545,727 (GRCm39) K260* probably null Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hic1 G A 11: 75,057,713 (GRCm39) P392L possibly damaging Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Ifna6 G T 4: 88,745,887 (GRCm39) V79F probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kdm5b T A 1: 134,545,771 (GRCm39) S977R possibly damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Map1a T G 2: 121,136,234 (GRCm39) L2350R probably damaging Het
Mdfic A G 6: 15,799,755 (GRCm39) D212G probably benign Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Myo9a T A 9: 59,801,635 (GRCm39) F1944L probably damaging Het
Nbea A T 3: 55,915,689 (GRCm39) W928R probably damaging Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nsd2 T A 5: 34,000,682 (GRCm39) N66K probably damaging Het
Nsmce4a T C 7: 130,138,732 (GRCm39) H304R probably damaging Het
Odad2 G A 18: 7,222,676 (GRCm39) P531L possibly damaging Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or4a2 T C 2: 89,248,544 (GRCm39) Y71C probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or7e168 G A 9: 19,720,156 (GRCm39) V181I probably benign Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
Or8h9 C T 2: 86,789,190 (GRCm39) G204D probably damaging Het
Peg3 T C 7: 6,714,427 (GRCm39) E265G probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Pramel32 A T 4: 88,547,559 (GRCm39) N37K probably damaging Het
R3hdm1 G A 1: 128,121,440 (GRCm39) V315I probably benign Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Septin5 T C 16: 18,443,647 (GRCm39) T92A probably benign Het
Setdb1 A G 3: 95,246,140 (GRCm39) V595A probably benign Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Thnsl2 A T 6: 71,111,243 (GRCm39) D208E probably damaging Het
Tie1 A C 4: 118,333,343 (GRCm39) I841R probably damaging Het
Tll1 T G 8: 64,551,505 (GRCm39) D292A probably damaging Het
Tnfaip8l1 A T 17: 56,478,727 (GRCm39) T6S probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Vmn2r9 C A 5: 108,996,154 (GRCm39) G165* probably null Het
Xkr6 A T 14: 64,056,871 (GRCm39) I261F probably benign Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Yipf1 A G 4: 107,193,387 (GRCm39) Y91C probably benign Het
Zfp442 T C 2: 150,253,169 (GRCm39) D31G possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zfp804a C T 2: 82,089,761 (GRCm39) Q1197* probably null Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Nfatc2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Nfatc2ip APN 7 125,989,736 (GRCm39) splice site probably null
IGL03137:Nfatc2ip APN 7 125,989,740 (GRCm39) missense possibly damaging 0.77
Weissgott UTSW 7 125,995,182 (GRCm39) missense possibly damaging 0.80
R0136:Nfatc2ip UTSW 7 125,990,507 (GRCm39) missense probably benign 0.11
R0657:Nfatc2ip UTSW 7 125,990,507 (GRCm39) missense probably benign 0.11
R1610:Nfatc2ip UTSW 7 125,986,579 (GRCm39) missense probably damaging 0.99
R1768:Nfatc2ip UTSW 7 125,989,634 (GRCm39) missense probably benign 0.00
R1932:Nfatc2ip UTSW 7 125,984,164 (GRCm39) missense probably damaging 1.00
R2116:Nfatc2ip UTSW 7 125,984,280 (GRCm39) missense probably damaging 1.00
R2130:Nfatc2ip UTSW 7 125,989,634 (GRCm39) missense probably benign 0.00
R2202:Nfatc2ip UTSW 7 125,990,467 (GRCm39) missense probably benign 0.01
R2350:Nfatc2ip UTSW 7 125,995,170 (GRCm39) missense probably benign 0.30
R4946:Nfatc2ip UTSW 7 125,995,784 (GRCm39) missense possibly damaging 0.79
R5545:Nfatc2ip UTSW 7 125,989,642 (GRCm39) missense possibly damaging 0.86
R6229:Nfatc2ip UTSW 7 125,995,113 (GRCm39) critical splice donor site probably null
R6460:Nfatc2ip UTSW 7 125,986,909 (GRCm39) missense probably damaging 1.00
R6741:Nfatc2ip UTSW 7 125,995,182 (GRCm39) missense possibly damaging 0.80
R7355:Nfatc2ip UTSW 7 125,986,783 (GRCm39) critical splice donor site probably null
R7912:Nfatc2ip UTSW 7 125,989,617 (GRCm39) nonsense probably null
R8004:Nfatc2ip UTSW 7 125,989,577 (GRCm39) missense possibly damaging 0.89
R8206:Nfatc2ip UTSW 7 125,989,906 (GRCm39) missense probably damaging 1.00
R8851:Nfatc2ip UTSW 7 125,986,617 (GRCm39) missense probably damaging 1.00
R9799:Nfatc2ip UTSW 7 125,989,739 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCAATCCCTGAAGCGCATCTAGAAG -3'
(R):5'- TGTTCGTCCAATGAAAGGGACAGAC -3'

Sequencing Primer
(F):5'- GCATCTAGAAGGCCAGCTTCC -3'
(R):5'- ACGCTAATACGGTGGGC -3'
Posted On 2013-06-12