Incidental Mutation 'IGL03366:Nprl3'
ID420104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nprl3
Ensembl Gene ENSMUSG00000020289
Gene Namenitrogen permease regulator-like 3
SynonymsProx1, HS-26, Phg, -14 gene, HS-40, Mare, m(alpha)RE
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL03366
Quality Score
Status
Chromosome11
Chromosomal Location32225628-32267707 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32250256 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 20 (I20T)
Ref Sequence ENSEMBL: ENSMUSP00000122231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020530] [ENSMUST00000109389] [ENSMUST00000124640] [ENSMUST00000129010] [ENSMUST00000136903] [ENSMUST00000137950] [ENSMUST00000141859] [ENSMUST00000149526]
Predicted Effect probably damaging
Transcript: ENSMUST00000020530
AA Change: I139T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: I139T

DomainStartEndE-ValueType
Blast:DSPc 1 77 3e-27 BLAST
Pfam:NPR3 104 418 1.8e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109389
AA Change: I114T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: I114T

DomainStartEndE-ValueType
Pfam:NPR3 63 108 8.3e-15 PFAM
Pfam:NPR3 104 395 3.1e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123411
Predicted Effect probably benign
Transcript: ENSMUST00000124640
SMART Domains Protein: ENSMUSP00000122085
Gene: ENSMUSG00000020289

DomainStartEndE-ValueType
Blast:DSPc 1 68 2e-30 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127657
Predicted Effect probably damaging
Transcript: ENSMUST00000129010
AA Change: I152T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123219
Gene: ENSMUSG00000020289
AA Change: I152T

DomainStartEndE-ValueType
Blast:DSPc 1 59 3e-29 BLAST
Pfam:NPR3 76 131 3e-16 PFAM
Pfam:NPR3 114 182 3.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136903
Predicted Effect probably benign
Transcript: ENSMUST00000137950
SMART Domains Protein: ENSMUSP00000115594
Gene: ENSMUSG00000020289

DomainStartEndE-ValueType
Blast:DSPc 1 68 2e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000141859
SMART Domains Protein: ENSMUSP00000120341
Gene: ENSMUSG00000020289

DomainStartEndE-ValueType
Blast:DSPc 1 59 2e-30 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146890
Predicted Effect probably damaging
Transcript: ENSMUST00000149526
AA Change: I20T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122231
Gene: ENSMUSG00000020289
AA Change: I20T

DomainStartEndE-ValueType
Pfam:NPR3 8 72 2.7e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]
PHENOTYPE: This gene is deleted in the Hbath-J mutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 T A 7: 141,629,273 S793T probably benign Het
Btnl6 T C 17: 34,508,179 D459G probably damaging Het
Cacna1g C A 11: 94,457,151 D704Y probably damaging Het
Cry2 A G 2: 92,413,715 I371T probably damaging Het
Dock3 A T 9: 107,005,433 F384I probably benign Het
Dpp4 T C 2: 62,356,957 probably null Het
Hecw1 G T 13: 14,377,797 D72E probably damaging Het
Htt T A 5: 34,907,580 W3046R probably damaging Het
Hydin A T 8: 110,267,363 N10Y unknown Het
Ighv8-8 T A 12: 115,294,140 T94S probably benign Het
Igkv4-58 A G 6: 69,500,554 S20P probably damaging Het
Il4i1 T C 7: 44,837,495 probably benign Het
Kif13a A T 13: 46,764,623 S403T probably benign Het
Klhl40 T C 9: 121,783,380 L616P probably damaging Het
Krt7 T C 15: 101,427,610 L440P possibly damaging Het
Lpin1 A G 12: 16,544,677 L755P probably damaging Het
Magee2 C A X: 104,855,528 E506* probably null Het
Mast3 G A 8: 70,781,563 R143* probably null Het
Med12 T A X: 101,278,089 H459Q probably benign Het
Mmp3 T C 9: 7,450,149 S294P probably benign Het
Muc6 T C 7: 141,648,082 Y714C probably damaging Het
Myh2 T C 11: 67,183,523 L662S probably damaging Het
Notch4 G T 17: 34,572,568 C567F probably damaging Het
Olfr1123 A T 2: 87,418,243 D65V possibly damaging Het
Pcdhb19 A G 18: 37,498,612 T487A possibly damaging Het
Phlpp2 A G 8: 109,940,835 E1332G probably benign Het
Pick1 T C 15: 79,241,281 S113P probably damaging Het
Ptpru T C 4: 131,779,867 E1023G probably damaging Het
Rspry1 A C 8: 94,650,334 I382L probably benign Het
Sf3b3 A C 8: 110,839,954 V248G probably damaging Het
Smg5 T A 3: 88,346,452 Y126* probably null Het
Spert A G 14: 75,583,389 S299P probably benign Het
Spin1 T C 13: 51,127,937 V22A probably benign Het
Stab1 C T 14: 31,150,263 R1189Q possibly damaging Het
Sytl5 A G X: 9,963,700 D538G probably damaging Het
Taar7e T A 10: 24,037,915 M101K probably damaging Het
Taf4 A G 2: 179,935,054 V578A probably damaging Het
Tmem266 G T 9: 55,437,233 C383F probably benign Het
Trim34a T C 7: 104,260,933 probably null Het
Vmn2r104 T C 17: 20,029,604 T802A probably damaging Het
Vmn2r32 A C 7: 7,464,030 I833S probably damaging Het
Vmn2r85 T C 10: 130,426,459 D137G probably benign Het
Vps13c C T 9: 67,946,026 S2467L probably benign Het
Other mutations in Nprl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02410:Nprl3 APN 11 32267539 start codon destroyed probably null 0.99
IGL03055:Nprl3 APN 11 32248230 intron probably benign
R0114:Nprl3 UTSW 11 32239784 unclassified probably benign
R0555:Nprl3 UTSW 11 32233118 critical splice acceptor site probably null
R0620:Nprl3 UTSW 11 32234876 missense probably damaging 1.00
R2008:Nprl3 UTSW 11 32232973 missense probably damaging 0.97
R2172:Nprl3 UTSW 11 32234894 missense probably benign 0.00
R2884:Nprl3 UTSW 11 32248163 missense probably damaging 1.00
R3713:Nprl3 UTSW 11 32255464 missense probably damaging 0.98
R3836:Nprl3 UTSW 11 32233082 missense probably damaging 1.00
R4354:Nprl3 UTSW 11 32234906 missense probably benign 0.00
R6052:Nprl3 UTSW 11 32255453 missense possibly damaging 0.92
R6056:Nprl3 UTSW 11 32267432 missense probably damaging 0.98
R6307:Nprl3 UTSW 11 32239828 missense probably damaging 1.00
R6553:Nprl3 UTSW 11 32234812 missense probably benign
R6585:Nprl3 UTSW 11 32234812 missense probably benign
R6774:Nprl3 UTSW 11 32237381 missense probably damaging 1.00
R6806:Nprl3 UTSW 11 32267509 missense probably damaging 0.99
R7746:Nprl3 UTSW 11 32248150 nonsense probably null
R7980:Nprl3 UTSW 11 32237357 missense probably damaging 1.00
Posted On2016-08-02