Incidental Mutation 'R6324:Nufip2'
ID510664
Institutional Source Beutler Lab
Gene Symbol Nufip2
Ensembl Gene ENSMUSG00000037857
Gene Namenuclear fragile X mental retardation protein interacting protein 2
Synonyms9530056D24Rik, 1110001M19Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #R6324 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location77686155-77741921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77691661 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 134 (T134A)
Ref Sequence ENSEMBL: ENSMUSP00000137922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100802] [ENSMUST00000181023]
Predicted Effect probably benign
Transcript: ENSMUST00000100802
AA Change: T134A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098365
Gene: ENSMUSG00000037857
AA Change: T134A

DomainStartEndE-ValueType
low complexity region 7 61 N/A INTRINSIC
Pfam:NUFIP2 90 685 2.4e-292 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155238
Predicted Effect probably benign
Transcript: ENSMUST00000181023
AA Change: T134A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137922
Gene: ENSMUSG00000037857
AA Change: T134A

DomainStartEndE-ValueType
low complexity region 7 61 N/A INTRINSIC
Pfam:NUFIP2 89 681 7e-293 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025F22Rik T A 19: 11,163,447 M3L probably benign Het
Arhgef4 G A 1: 34,723,477 A605T unknown Het
Atp13a3 A G 16: 30,332,285 V1069A possibly damaging Het
Atp1a2 C G 1: 172,289,336 R238P probably damaging Het
Baz2b A G 2: 59,906,948 S1877P probably damaging Het
Ccdc114 A G 7: 45,941,710 E203G probably damaging Het
Ccdc27 A T 4: 154,036,191 S383T probably benign Het
Cr1l A G 1: 195,111,122 V377A probably benign Het
Dazap1 A G 10: 80,277,660 E130G probably benign Het
Dchs1 G T 7: 105,764,938 A890E probably benign Het
Dock10 G A 1: 80,505,176 T2143I probably benign Het
Eif3j1 A G 2: 122,041,178 D60G probably benign Het
Enah A G 1: 181,918,571 S382P probably damaging Het
Fam171b A T 2: 83,879,264 K427* probably null Het
Fmn2 A T 1: 174,612,553 I1179L possibly damaging Het
Focad C T 4: 88,401,068 R1505* probably null Het
Frem1 T C 4: 82,983,337 T985A probably benign Het
Gm3404 A T 5: 146,528,107 Q219L possibly damaging Het
Gm5592 A C 7: 41,286,535 S154R probably damaging Het
Gpn3 C T 5: 122,372,575 probably benign Het
Gpr158 A G 2: 21,810,554 E586G probably damaging Het
Gstp2 A T 19: 4,040,499 I162N probably benign Het
Lin7a T A 10: 107,380,215 probably null Het
Loxl4 G A 19: 42,595,378 L745F probably benign Het
Mybpc1 A G 10: 88,568,619 I172T possibly damaging Het
Nalcn A G 14: 123,409,749 W571R possibly damaging Het
Nkx2-5 G C 17: 26,841,121 P79A probably benign Het
Olfr1042 C T 2: 86,159,456 V305I probably benign Het
Olfr1342 G A 4: 118,690,531 probably benign Het
Olfr1463 A G 19: 13,235,104 M285V possibly damaging Het
Phkb A G 8: 86,018,542 D616G probably benign Het
Plch1 C T 3: 63,781,390 W131* probably null Het
Prl7b1 A T 13: 27,602,895 probably null Het
Prop1 G A 11: 50,952,199 P54S probably benign Het
Ptcd3 C T 6: 71,885,327 V509I probably benign Het
Ptprg T A 14: 12,226,314 D527E probably damaging Het
Rapgef2 C T 3: 79,079,132 V1182I probably benign Het
Rfx7 C A 9: 72,618,414 P962Q probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,579,908 probably benign Homo
Slc38a9 A G 13: 112,726,100 I444M probably benign Het
Sorbs1 T C 19: 40,321,819 T492A probably damaging Het
Synj1 A T 16: 90,938,630 S1478R probably benign Het
Tnn T A 1: 160,145,204 N276I probably damaging Het
Trbv19 G A 6: 41,178,758 G21D probably damaging Het
Ube2o A T 11: 116,539,359 D1184E probably benign Het
Vmn1r181 G A 7: 23,984,758 R216Q probably benign Het
Vmn2r108 A T 17: 20,471,715 L182* probably null Het
Vmn2r15 A G 5: 109,286,271 *856R probably null Het
Vmn2r70 G A 7: 85,558,879 H797Y probably benign Het
Zfp11 C T 5: 129,656,523 A625T possibly damaging Het
Other mutations in Nufip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Nufip2 APN 11 77692370 missense possibly damaging 0.93
R0646:Nufip2 UTSW 11 77686453 missense probably benign 0.33
R0667:Nufip2 UTSW 11 77692013 missense possibly damaging 0.94
R1544:Nufip2 UTSW 11 77691907 missense possibly damaging 0.57
R1546:Nufip2 UTSW 11 77691606 missense probably damaging 0.99
R1629:Nufip2 UTSW 11 77693008 missense probably benign 0.03
R1719:Nufip2 UTSW 11 77693090 missense probably damaging 1.00
R1864:Nufip2 UTSW 11 77692298 missense probably damaging 1.00
R3855:Nufip2 UTSW 11 77692889 missense probably damaging 0.97
R4489:Nufip2 UTSW 11 77686229 start codon destroyed probably null
R4584:Nufip2 UTSW 11 77741728 missense unknown
R4585:Nufip2 UTSW 11 77741728 missense unknown
R4586:Nufip2 UTSW 11 77741728 missense unknown
R4779:Nufip2 UTSW 11 77686328 missense unknown
R5111:Nufip2 UTSW 11 77691843 missense probably benign 0.01
R5354:Nufip2 UTSW 11 77686277 missense unknown
R6051:Nufip2 UTSW 11 77691916 missense probably damaging 1.00
R6505:Nufip2 UTSW 11 77691613 missense probably benign 0.36
R6941:Nufip2 UTSW 11 77686296 small deletion probably benign
R7237:Nufip2 UTSW 11 77692770 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCTTAGTATTGGGTTCAGTAAAG -3'
(R):5'- GCCTGAACTACTTGTTATAACACC -3'

Sequencing Primer
(F):5'- TCAGTAAAGTTGTTTGGTCTTAGTAC -3'
(R):5'- CACCATTTGGAATTGCTATGGTATCG -3'
Posted On2018-04-02