Incidental Mutation 'IGL02410:Nprl3'
ID 292272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nprl3
Ensembl Gene ENSMUSG00000020289
Gene Name nitrogen permease regulator-like 3
Synonyms Mare, HS-26, Prox1, Phg, -14 gene, HS-40, m(alpha)RE
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # IGL02410
Quality Score
Status
Chromosome 11
Chromosomal Location 32181963-32217707 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 32217539 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000141859] [ENSMUST00000137950] [ENSMUST00000149526]
AlphaFold Q8VIJ8
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: 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: 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: 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: 165,337,977 (GRCm39) C197Y probably damaging Het
Ano2 A G 6: 125,792,496 (GRCm39) probably null Het
Aqr A G 2: 113,967,398 (GRCm39) V539A possibly damaging Het
Bnip3 C A 7: 138,500,528 (GRCm39) G21C probably damaging Het
Cul1 T A 6: 47,461,948 (GRCm39) M37K probably damaging Het
Dazl T C 17: 50,600,426 (GRCm39) probably benign Het
Dsg2 A G 18: 20,735,189 (GRCm39) T1056A probably benign Het
Ewsr1 A G 11: 5,043,863 (GRCm39) probably benign Het
Fam167b G A 4: 129,472,011 (GRCm39) A53V probably benign Het
Fat3 T C 9: 15,909,141 (GRCm39) Y2287C probably damaging Het
H2-M10.3 A T 17: 36,677,428 (GRCm39) H283Q probably damaging Het
Hectd2 C T 19: 36,572,613 (GRCm39) R39* probably null Het
Hnrnph3 A G 10: 62,851,503 (GRCm39) probably benign Het
Hps4 T C 5: 112,518,093 (GRCm39) V362A probably benign Het
Igkv9-120 A C 6: 68,027,027 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lamc3 A G 2: 31,795,977 (GRCm39) T417A probably damaging Het
Loxhd1 T C 18: 77,490,648 (GRCm39) V1307A probably benign Het
Mpdz T C 4: 81,215,730 (GRCm39) E1511G probably benign Het
Or9i2 A G 19: 13,816,495 (GRCm39) I14T probably benign Het
Ppp1r15a A G 7: 45,173,479 (GRCm39) V443A probably damaging Het
Psmd1 T G 1: 86,005,159 (GRCm39) L198V probably damaging Het
Rapgef4 A T 2: 72,056,938 (GRCm39) I566F possibly damaging Het
Rbbp8 T A 18: 11,865,269 (GRCm39) D719E probably damaging Het
Siah2 T C 3: 58,583,468 (GRCm39) R273G probably damaging Het
Siglecg C T 7: 43,058,253 (GRCm39) P47S probably damaging Het
Sox6 A G 7: 115,085,979 (GRCm39) S621P probably damaging Het
Spata31e5 A G 1: 28,817,712 (GRCm39) S107P probably benign Het
Ttn C A 2: 76,555,278 (GRCm39) A30576S probably benign Het
Ttyh1 A G 7: 4,136,898 (GRCm39) probably benign Het
Ush2a C T 1: 188,648,194 (GRCm39) R4600C probably damaging Het
Usp36 C T 11: 118,167,011 (GRCm39) V289M probably damaging Het
Other mutations in Nprl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03055:Nprl3 APN 11 32,198,230 (GRCm39) intron probably benign
IGL03366:Nprl3 APN 11 32,200,256 (GRCm39) missense probably damaging 1.00
R0114:Nprl3 UTSW 11 32,189,784 (GRCm39) unclassified probably benign
R0555:Nprl3 UTSW 11 32,183,118 (GRCm39) critical splice acceptor site probably null
R0620:Nprl3 UTSW 11 32,184,876 (GRCm39) missense probably damaging 1.00
R2008:Nprl3 UTSW 11 32,182,973 (GRCm39) missense probably damaging 0.97
R2172:Nprl3 UTSW 11 32,184,894 (GRCm39) missense probably benign 0.00
R2884:Nprl3 UTSW 11 32,198,163 (GRCm39) missense probably damaging 1.00
R3713:Nprl3 UTSW 11 32,205,464 (GRCm39) missense probably damaging 0.98
R3836:Nprl3 UTSW 11 32,183,082 (GRCm39) missense probably damaging 1.00
R4354:Nprl3 UTSW 11 32,184,906 (GRCm39) missense probably benign 0.00
R6052:Nprl3 UTSW 11 32,205,453 (GRCm39) missense possibly damaging 0.92
R6056:Nprl3 UTSW 11 32,217,432 (GRCm39) missense probably damaging 0.98
R6307:Nprl3 UTSW 11 32,189,828 (GRCm39) missense probably damaging 1.00
R6553:Nprl3 UTSW 11 32,184,812 (GRCm39) missense probably benign
R6585:Nprl3 UTSW 11 32,184,812 (GRCm39) missense probably benign
R6774:Nprl3 UTSW 11 32,187,381 (GRCm39) missense probably damaging 1.00
R6806:Nprl3 UTSW 11 32,217,509 (GRCm39) missense probably damaging 0.99
R7746:Nprl3 UTSW 11 32,198,150 (GRCm39) nonsense probably null
R7980:Nprl3 UTSW 11 32,187,357 (GRCm39) missense probably damaging 1.00
R8483:Nprl3 UTSW 11 32,213,083 (GRCm39) missense probably damaging 1.00
R8712:Nprl3 UTSW 11 32,187,334 (GRCm39) missense possibly damaging 0.84
R8827:Nprl3 UTSW 11 32,184,742 (GRCm39) missense probably benign 0.00
R9264:Nprl3 UTSW 11 32,183,948 (GRCm39) missense probably benign
Posted On 2015-04-16