Incidental Mutation 'R1610:Nfatc2ip'
ID 176736
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 039647-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126382854-126396737 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126387407 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 359 (S359T)
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 probably damaging
Transcript: ENSMUST00000075671
AA Change: S359T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: S359T

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 probably benign
Transcript: ENSMUST00000142947
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik G T 6: 96,165,289 P258Q probably damaging Het
4930452B06Rik G T 14: 8,511,110 H435N probably benign Het
Acbd5 G A 2: 23,090,551 C312Y probably damaging Het
Adgrl1 T A 8: 83,932,373 M601K probably benign Het
Agbl4 G A 4: 111,657,168 E459K probably benign Het
Anxa2 TCCC TCC 9: 69,489,754 probably null Het
Casz1 C T 4: 148,929,087 A36V possibly damaging Het
Chpf A G 1: 75,476,648 V327A probably damaging Het
Cldn23 A G 8: 35,825,930 Y135H probably damaging Het
Cobll1 C T 2: 65,133,642 D211N probably damaging Het
Cramp1l A G 17: 24,983,951 V368A probably benign Het
Dnah6 T C 6: 73,144,963 T1374A probably benign Het
Dpyd A G 3: 119,065,006 H623R probably benign Het
Dyrk2 T C 10: 118,859,925 N476S probably benign Het
Endog A T 2: 30,173,887 I267F probably damaging Het
Ephb6 A T 6: 41,614,373 K155* probably null Het
Far2 T C 6: 148,157,458 V214A possibly damaging Het
Fat2 A G 11: 55,278,924 V3003A probably damaging Het
Frg2f1 T A 4: 119,531,288 T5S possibly damaging Het
Gm14496 A T 2: 181,996,179 T349S probably benign Het
Golgb1 A G 16: 36,926,101 T2951A probably benign Het
Hc G T 2: 35,006,161 D1203E probably benign Het
Isg20 C A 7: 78,914,509 Q55K possibly damaging Het
Jph4 G T 14: 55,114,103 A152E probably damaging Het
Kcnq3 T C 15: 66,025,260 T264A probably damaging Het
Kcnq5 T G 1: 21,457,461 T463P probably damaging Het
Klra8 A G 6: 130,119,018 S204P probably damaging Het
Ldlrad1 A G 4: 107,214,875 D98G probably damaging Het
Lhfpl4 T C 6: 113,194,136 T30A possibly damaging Het
Lig1 T A 7: 13,285,340 L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,612 Y558C probably benign Het
Lrrn3 G T 12: 41,452,993 L442I possibly damaging Het
Mc2r A G 18: 68,407,448 F258S probably damaging Het
Mmp16 A G 4: 18,011,582 T137A probably benign Het
Nup214 C T 2: 32,034,466 S1669F probably damaging Het
Olfr1193 A T 2: 88,678,574 K233* probably null Het
Olfr1229 T C 2: 89,282,821 H104R probably damaging Het
Olfr514 T A 7: 108,825,924 H25L probably benign Het
Olfr904 C T 9: 38,464,631 L197F probably damaging Het
Plagl1 C T 10: 13,128,962 probably benign Het
Plxnb2 A T 15: 89,158,493 S1531T probably damaging Het
Ptpn22 G A 3: 103,902,196 probably null Het
Rtn1 T A 12: 72,219,279 Q174L possibly damaging Het
Selenoo A G 15: 89,099,916 E645G probably benign Het
Serpina1a A C 12: 103,853,837 D383E possibly damaging Het
Slc6a18 T A 13: 73,668,225 Y345F probably benign Het
Smbd1 A G 16: 32,806,765 V51A possibly damaging Het
Tchh C T 3: 93,444,839 R529W unknown Het
Tmem206 A G 1: 191,345,065 D195G probably benign Het
Tonsl A T 15: 76,638,557 Y165N probably damaging Het
Trdmt1 G A 2: 13,516,059 T344I probably damaging Het
Ubash3b C A 9: 41,043,500 R116L probably damaging Het
Vmn2r94 A G 17: 18,243,733 V765A probably damaging Het
Zfp474 C T 18: 52,638,365 T30I probably benign Het
Other mutations in Nfatc2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Nfatc2ip APN 7 126390564 splice site probably null
IGL03137:Nfatc2ip APN 7 126390568 missense possibly damaging 0.77
Weissgott UTSW 7 126396010 missense possibly damaging 0.80
R0136:Nfatc2ip UTSW 7 126391335 missense probably benign 0.11
R0521:Nfatc2ip UTSW 7 126396579 missense possibly damaging 0.93
R0657:Nfatc2ip UTSW 7 126391335 missense probably benign 0.11
R1768:Nfatc2ip UTSW 7 126390462 missense probably benign 0.00
R1932:Nfatc2ip UTSW 7 126384992 missense probably damaging 1.00
R2116:Nfatc2ip UTSW 7 126385108 missense probably damaging 1.00
R2130:Nfatc2ip UTSW 7 126390462 missense probably benign 0.00
R2202:Nfatc2ip UTSW 7 126391295 missense probably benign 0.01
R2350:Nfatc2ip UTSW 7 126395998 missense probably benign 0.30
R4946:Nfatc2ip UTSW 7 126396612 missense possibly damaging 0.79
R5545:Nfatc2ip UTSW 7 126390470 missense possibly damaging 0.86
R6229:Nfatc2ip UTSW 7 126395941 critical splice donor site probably null
R6460:Nfatc2ip UTSW 7 126387737 missense probably damaging 1.00
R6741:Nfatc2ip UTSW 7 126396010 missense possibly damaging 0.80
R7355:Nfatc2ip UTSW 7 126387611 critical splice donor site probably null
R7912:Nfatc2ip UTSW 7 126390445 nonsense probably null
R8004:Nfatc2ip UTSW 7 126390405 missense possibly damaging 0.89
R8206:Nfatc2ip UTSW 7 126390734 missense probably damaging 1.00
R8851:Nfatc2ip UTSW 7 126387445 missense probably damaging 1.00
R9799:Nfatc2ip UTSW 7 126390567 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAAACCATGCCCTTTAGGTGTTTCC -3'
(R):5'- GGATCTGCTCCCAGAACTCCTACTAC -3'

Sequencing Primer
(F):5'- aaccatagcccaaaacatatcac -3'
(R):5'- AGAACTCCTACTACTTTACTGTCAC -3'
Posted On 2014-04-24