Incidental Mutation 'IGL02410:Nprl3'
ID292272
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? Possibly non essential (E-score: 0.417) question?
Stock #IGL02410
Quality Score
Status
Chromosome11
Chromosomal Location32225628-32267707 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 32267539 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000105016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020530] [ENSMUST00000109389] [ENSMUST00000124640] [ENSMUST00000129010] [ENSMUST00000136903] [ENSMUST00000137950] [ENSMUST00000141859] [ENSMUST00000149526]
Predicted Effect probably null
Transcript: ENSMUST00000020530
AA Change: M1K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: M1K

DomainStartEndE-ValueType
Blast:DSPc 1 77 3e-27 BLAST
Pfam:NPR3 104 418 1.8e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109389
AA Change: M1K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: M1K

DomainStartEndE-ValueType
Pfam:NPR3 63 108 8.3e-15 PFAM
Pfam:NPR3 104 395 3.1e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124640
AA Change: M1K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122085
Gene: ENSMUSG00000020289
AA Change: M1K

DomainStartEndE-ValueType
Blast:DSPc 1 68 2e-30 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000129010
AA Change: M1K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123219
Gene: ENSMUSG00000020289
AA Change: M1K

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 noncoding transcript
Transcript: ENSMUST00000132856
Predicted Effect probably null
Transcript: ENSMUST00000136903
AA Change: M1K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably null
Transcript: ENSMUST00000137950
AA Change: M1K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115594
Gene: ENSMUSG00000020289
AA Change: M1K

DomainStartEndE-ValueType
Blast:DSPc 1 68 2e-30 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000141859
AA Change: M1K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120341
Gene: ENSMUSG00000020289
AA Change: M1K

DomainStartEndE-ValueType
Blast:DSPc 1 59 2e-30 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000149526
AA Change: M1K
SMART Domains Protein: ENSMUSP00000122231
Gene: ENSMUSG00000020289
AA Change: M1K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 G A 1: 165,510,408 C197Y probably damaging Het
Ano2 A G 6: 125,815,533 probably null Het
Aqr A G 2: 114,136,917 V539A possibly damaging Het
Bnip3 C A 7: 138,898,799 G21C probably damaging Het
Cul1 T A 6: 47,485,014 M37K probably damaging Het
Dazl T C 17: 50,293,398 probably benign Het
Dsg2 A G 18: 20,602,132 T1056A probably benign Het
Ewsr1 A G 11: 5,093,863 probably benign Het
Fam167b G A 4: 129,578,218 A53V probably benign Het
Fat3 T C 9: 15,997,845 Y2287C probably damaging Het
Gm597 A G 1: 28,778,631 S107P probably benign Het
H2-M10.3 A T 17: 36,366,536 H283Q probably damaging Het
Hectd2 C T 19: 36,595,213 R39* probably null Het
Hnrnph3 A G 10: 63,015,724 probably benign Het
Hps4 T C 5: 112,370,227 V362A probably benign Het
Igkv9-120 A C 6: 68,050,043 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Lamc3 A G 2: 31,905,965 T417A probably damaging Het
Loxhd1 T C 18: 77,402,952 V1307A probably benign Het
Mpdz T C 4: 81,297,493 E1511G probably benign Het
Olfr1501 A G 19: 13,839,131 I14T probably benign Het
Ppp1r15a A G 7: 45,524,055 V443A probably damaging Het
Psmd1 T G 1: 86,077,437 L198V probably damaging Het
Rapgef4 A T 2: 72,226,594 I566F possibly damaging Het
Rbbp8 T A 18: 11,732,212 D719E probably damaging Het
Siah2 T C 3: 58,676,047 R273G probably damaging Het
Siglecg C T 7: 43,408,829 P47S probably damaging Het
Sox6 A G 7: 115,486,744 S621P probably damaging Het
Ttn C A 2: 76,724,934 A30576S probably benign Het
Ttyh1 A G 7: 4,133,899 probably benign Het
Ush2a C T 1: 188,915,997 R4600C probably damaging Het
Usp36 C T 11: 118,276,185 V289M probably damaging Het
Other mutations in Nprl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03055:Nprl3 APN 11 32248230 intron probably benign
IGL03366:Nprl3 APN 11 32250256 missense probably damaging 1.00
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
Posted On2015-04-16