Incidental Mutation 'R0136:Nfatc2ip'
ID 21954
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 038421-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R0136 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 125982026-125995909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125990507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 165 (S165P)
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 benign
Transcript: ENSMUST00000075671
AA Change: S165P

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: S165P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206502
Meta Mutation Damage Score 0.1152 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 89% (56/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Arg2 T C 12: 79,196,780 (GRCm39) L167P probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Baz2b A G 2: 59,732,298 (GRCm39) V1949A probably benign Het
Bcl3 A G 7: 19,543,494 (GRCm39) V324A probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Camta1 A G 4: 151,163,426 (GRCm39) S1479P probably damaging Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Col5a1 T C 2: 27,914,843 (GRCm39) L153P probably damaging Het
Crat C A 2: 30,297,042 (GRCm39) V304L probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Fau T C 19: 6,109,210 (GRCm39) V86A possibly damaging Het
Garem1 T G 18: 21,263,048 (GRCm39) S589R probably damaging Het
Gbp3 T G 3: 142,269,862 (GRCm39) probably null Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gtf2h1 A T 7: 46,464,840 (GRCm39) Q419L possibly damaging Het
Hipk3 A G 2: 104,269,638 (GRCm39) I517T probably benign Het
Hivep2 T C 10: 14,007,622 (GRCm39) S1407P probably benign Het
Hnrnpk G T 13: 58,542,991 (GRCm39) D211E probably benign Het
Hnrnpul2 T C 19: 8,804,165 (GRCm39) L588P probably damaging Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Itgb1 T G 8: 129,449,335 (GRCm39) Y585D possibly damaging Het
Kmt2d C T 15: 98,752,159 (GRCm39) probably benign Het
Map7d1 A T 4: 126,130,424 (GRCm39) probably null Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Med13l A G 5: 118,862,115 (GRCm39) T353A probably benign Het
Mgat4b T C 11: 50,121,908 (GRCm39) V143A possibly damaging Het
Mlxip T A 5: 123,580,369 (GRCm39) W211R probably damaging Het
Morc2a T G 11: 3,635,907 (GRCm39) probably null Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Ndufa10 A T 1: 92,390,850 (GRCm39) Y233* probably null Het
Nek8 C T 11: 78,062,033 (GRCm39) S237N probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nsd2 A G 5: 34,012,880 (GRCm39) K404E possibly damaging Het
Nsd3 G T 8: 26,149,870 (GRCm39) E352* probably null Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Or1e34 T C 11: 73,778,611 (GRCm39) M196V probably benign Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Or8b57 A G 9: 40,003,315 (GRCm39) *312Q probably null Het
Patj C A 4: 98,555,885 (GRCm39) Q297K probably damaging Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Pnpla3 G A 15: 84,058,679 (GRCm39) probably null Het
Pramel1 C A 4: 143,124,016 (GRCm39) N230K probably damaging Het
Psg20 A C 7: 18,416,432 (GRCm39) L228R probably damaging Het
Rsph10b T C 5: 143,896,639 (GRCm39) F44L probably benign Het
Septin2 G A 1: 93,434,772 (GRCm39) G358R possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Slc12a8 A G 16: 33,428,583 (GRCm39) D297G probably damaging Het
Slc17a5 G A 9: 78,485,956 (GRCm39) A43V probably damaging Het
Slc22a1 A T 17: 12,881,483 (GRCm39) F335L probably benign Het
Slc26a5 T C 5: 22,039,345 (GRCm39) N216S probably damaging Het
Snrnp27 T C 6: 86,653,187 (GRCm39) S144G probably benign Het
Spata20 T A 11: 94,371,435 (GRCm39) D643V probably damaging Het
Spata24 T C 18: 35,793,515 (GRCm39) K99R probably damaging Het
Taar5 A G 10: 23,847,607 (GRCm39) Y335C probably damaging Het
Tpr A G 1: 150,306,346 (GRCm39) H1540R probably benign Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Vmn2r37 A T 7: 9,220,782 (GRCm39) Y360* probably null Het
Ybx1 C A 4: 119,139,551 (GRCm39) R36L possibly damaging Het
Zfp369 A G 13: 65,445,016 (GRCm39) K720E probably benign Het
Zfp599 A G 9: 22,161,038 (GRCm39) S376P probably benign Het
Zic2 A G 14: 122,713,953 (GRCm39) E289G probably damaging Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A 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
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
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'- ACAAGCCACTTCCCTCTACATCTGA -3'
(R):5'- TCAAACTGCTATGTGTGCCTCCTATCT -3'

Sequencing Primer
(F):5'- ACATCTGAGCCTCATCTTCCAC -3'
(R):5'- gctctattactgaactacactgcc -3'
Posted On 2013-04-12