Incidental Mutation 'IGL02217:Nrip2'
ID284945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrip2
Ensembl Gene ENSMUSG00000001520
Gene Namenuclear receptor interacting protein 2
SynonymsNIX1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL02217
Quality Score
Status
Chromosome6
Chromosomal Location128399296-128416427 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128406539 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 70 (N70S)
Ref Sequence ENSEMBL: ENSMUSP00000144750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001559] [ENSMUST00000001561] [ENSMUST00000120405] [ENSMUST00000123867] [ENSMUST00000142615] [ENSMUST00000203374] [ENSMUST00000204223] [ENSMUST00000204836]
Predicted Effect probably benign
Transcript: ENSMUST00000001559
SMART Domains Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 382 1e-158 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000001561
AA Change: N130S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520
AA Change: N130S

DomainStartEndE-ValueType
Pfam:Asp_protease 88 203 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120405
AA Change: N130S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520
AA Change: N130S

DomainStartEndE-ValueType
Pfam:Asp_protease 88 202 1.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123867
AA Change: N147S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520
AA Change: N147S

DomainStartEndE-ValueType
Pfam:Asp_protease 105 218 4.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136631
Predicted Effect probably benign
Transcript: ENSMUST00000142615
SMART Domains Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 358 1e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147155
SMART Domains Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
low complexity region 96 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203374
SMART Domains Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 21 350 1.3e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203984
Predicted Effect probably damaging
Transcript: ENSMUST00000204223
AA Change: N159S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011
AA Change: N159S

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 190 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204362
Predicted Effect probably damaging
Transcript: ENSMUST00000204836
AA Change: N70S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520
AA Change: N70S

DomainStartEndE-ValueType
Pfam:Asp_protease 28 141 8.9e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,470,898 probably benign Het
Actn1 G A 12: 80,174,094 Q647* probably null Het
Adamts6 T A 13: 104,462,365 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabin1 G A 10: 75,700,047 T1389I possibly damaging Het
Cenpc1 A G 5: 86,029,200 probably benign Het
Clca4a T A 3: 144,961,996 T405S possibly damaging Het
Cntln G A 4: 85,100,258 V1168M probably damaging Het
Col18a1 A G 10: 77,053,298 S1494P probably damaging Het
Cps1 A T 1: 67,174,382 T758S probably benign Het
Cul3 A T 1: 80,283,767 M247K probably damaging Het
Cyp3a57 A G 5: 145,369,143 probably null Het
Dennd4c T A 4: 86,813,799 C917S probably benign Het
Dhrs11 A T 11: 84,822,395 Y166* probably null Het
Dtl A G 1: 191,568,314 V146A probably damaging Het
Exosc9 A G 3: 36,552,744 E20G probably damaging Het
Fer A G 17: 64,138,965 K437R probably benign Het
Fkbp6 A T 5: 135,337,630 V284E probably benign Het
Foxq1 A T 13: 31,559,169 S85C probably damaging Het
Galnt12 T A 4: 47,113,832 S83R probably damaging Het
Gm5244 A T 19: 12,846,863 noncoding transcript Het
Gm765 T A 6: 98,248,072 E83D possibly damaging Het
Gm884 T C 11: 103,612,871 probably benign Het
Gpr156 A G 16: 38,005,311 D630G probably benign Het
Hace1 A T 10: 45,590,375 probably null Het
Hemgn G T 4: 46,396,420 T272K probably damaging Het
Ifi213 T G 1: 173,595,032 E89A possibly damaging Het
Jarid2 A G 13: 44,913,201 E954G probably damaging Het
Kcnu1 A G 8: 25,858,184 D126G probably damaging Het
Lbh A T 17: 72,921,252 I31F possibly damaging Het
Muc6 T C 7: 141,649,624 E490G probably damaging Het
Ncoa3 T C 2: 166,055,346 S686P probably damaging Het
Nme4 A G 17: 26,093,860 M108T probably damaging Het
Nod1 A C 6: 54,943,419 V638G possibly damaging Het
Olfr1111 A G 2: 87,149,887 M258T probably benign Het
Olfr1344 T A 7: 6,440,245 I115N probably damaging Het
Pitrm1 G A 13: 6,567,341 probably benign Het
Proser1 A G 3: 53,471,491 K115E probably damaging Het
Ptov1 C T 7: 44,867,476 G70R probably damaging Het
Qtrt1 T G 9: 21,417,389 probably null Het
Rbbp8nl A G 2: 180,278,188 probably benign Het
Rtn3 G A 19: 7,435,084 T794I probably damaging Het
Setd4 A G 16: 93,593,295 L82P probably damaging Het
Shank2 C T 7: 144,285,047 L27F possibly damaging Het
Srpk2 A C 5: 23,545,570 V45G probably damaging Het
Utrn A G 10: 12,751,559 F57S probably damaging Het
Vcan T G 13: 89,703,077 T1255P probably damaging Het
Vmn2r16 A C 5: 109,339,810 H183P probably damaging Het
Wdr48 T C 9: 119,909,535 I286T probably benign Het
Other mutations in Nrip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03179:Nrip2 APN 6 128404975 missense possibly damaging 0.51
R1301:Nrip2 UTSW 6 128407389 missense probably benign 0.03
R1735:Nrip2 UTSW 6 128405074 missense probably damaging 1.00
R1769:Nrip2 UTSW 6 128408268 missense probably benign
R4926:Nrip2 UTSW 6 128408374 missense probably benign 0.00
R5935:Nrip2 UTSW 6 128408398 missense possibly damaging 0.96
R5990:Nrip2 UTSW 6 128400016 unclassified probably benign
R6586:Nrip2 UTSW 6 128404948 nonsense probably null
R6658:Nrip2 UTSW 6 128408236 missense possibly damaging 0.96
Posted On2015-04-16