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? Probably non essential (E-score: 0.208) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 125982026-125995909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125986579 bp (GRCm39)
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
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I 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
R0521:Nfatc2ip UTSW 7 125,995,751 (GRCm39) missense possibly damaging 0.93
R0657:Nfatc2ip UTSW 7 125,990,507 (GRCm39) missense probably benign 0.11
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'- ACAAACCATGCCCTTTAGGTGTTTCC -3'
(R):5'- GGATCTGCTCCCAGAACTCCTACTAC -3'

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