Incidental Mutation 'IGL00897:Nprl2'
ID28120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nprl2
Ensembl Gene ENSMUSG00000010057
Gene Namenitrogen permease regulator-like 2
SynonymsNPRL2, NPR2L, G21, 2810446G01Rik, Tusc4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.786) question?
Stock #IGL00897
Quality Score
Status
Chromosome9
Chromosomal Location107542226-107545706 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 107545528 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 371 (N371K)
Ref Sequence ENSEMBL: ENSMUSP00000010201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010188] [ENSMUST00000010201] [ENSMUST00000041459] [ENSMUST00000193303] [ENSMUST00000194967] [ENSMUST00000195235] [ENSMUST00000195370]
Predicted Effect probably benign
Transcript: ENSMUST00000010188
SMART Domains Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044

DomainStartEndE-ValueType
Pfam:zf-MYND 394 430 1.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000010201
AA Change: N371K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057
AA Change: N371K

DomainStartEndE-ValueType
Pfam:NPR2 5 279 1.7e-75 PFAM
Pfam:NPR2 269 373 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041459
SMART Domains Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
B561 47 178 8.01e-42 SMART
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192951
Predicted Effect probably benign
Transcript: ENSMUST00000193303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193782
Predicted Effect probably benign
Transcript: ENSMUST00000194344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194906
Predicted Effect probably benign
Transcript: ENSMUST00000194967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195627
Predicted Effect probably benign
Transcript: ENSMUST00000195235
SMART Domains Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
B561 47 178 8.01e-42 SMART
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195370
SMART Domains Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057

DomainStartEndE-ValueType
Pfam:NPR2 2 156 1.2e-52 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryo size, microphthalmia, occaional anophthalmia, pale liver, reduced fetal liver hematopoiesis, impaired erythropoiesis and reduced methionine synthesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,216,125 probably benign Het
Arsi A G 18: 60,912,430 Y64C probably damaging Het
Ascc3 A T 10: 50,728,091 E1302D probably benign Het
Aspm T C 1: 139,477,407 I1344T probably damaging Het
Atp2b1 T C 10: 99,015,020 I924T possibly damaging Het
Ccnb1 A G 13: 100,785,911 probably benign Het
Cps1 A G 1: 67,215,564 D1304G probably benign Het
Ctsq C A 13: 61,037,725 V201F probably damaging Het
Epb41 T A 4: 132,000,197 probably null Het
Fam196b T C 11: 34,403,011 V351A probably benign Het
Fat2 T C 11: 55,289,252 E1421G probably damaging Het
Flt1 T A 5: 147,589,854 Y873F probably benign Het
Fos C T 12: 85,476,346 T344I probably damaging Het
Gm11639 G A 11: 105,100,021 D293N probably damaging Het
Gsdme A G 6: 50,229,284 probably null Het
Inpp5d A G 1: 87,712,114 T846A probably benign Het
Kdm4c T C 4: 74,373,684 M846T probably damaging Het
Lrp2 A G 2: 69,521,881 F604L possibly damaging Het
Mab21l3 C A 3: 101,823,455 R156L probably damaging Het
Mrps9 A G 1: 42,905,459 E379G probably damaging Het
Myo16 T C 8: 10,315,518 L119P probably damaging Het
Neurod2 C T 11: 98,327,769 V190M probably damaging Het
Nr1d2 A T 14: 18,214,993 C340S probably benign Het
Nsg1 A T 5: 38,144,716 V117D probably damaging Het
Olfr818 A T 10: 129,945,911 D50E possibly damaging Het
Olfr859 T G 9: 19,808,621 V101G probably damaging Het
Paqr4 T C 17: 23,737,570 D273G possibly damaging Het
Plcb4 A G 2: 135,971,798 T686A probably benign Het
Ppp1r8 G A 4: 132,827,902 A335V probably damaging Het
Slc4a2 T A 5: 24,429,559 Y65* probably null Het
Slco3a1 A T 7: 74,504,183 Y214N probably damaging Het
Tmem232 T C 17: 65,256,574 E608G possibly damaging Het
Vmn1r169 A T 7: 23,577,594 Y137F probably damaging Het
Vmn2r97 T C 17: 18,947,659 I725T probably benign Het
Vmn2r98 T A 17: 19,065,745 probably benign Het
Other mutations in Nprl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0015:Nprl2 UTSW 9 107544419 missense probably damaging 1.00
R0015:Nprl2 UTSW 9 107544419 missense probably damaging 1.00
R0417:Nprl2 UTSW 9 107543298 missense probably damaging 0.98
R0540:Nprl2 UTSW 9 107545298 missense possibly damaging 0.50
R1507:Nprl2 UTSW 9 107542992 missense probably benign 0.03
R2113:Nprl2 UTSW 9 107545312 missense probably benign
R4969:Nprl2 UTSW 9 107543074 critical splice donor site probably null
R5040:Nprl2 UTSW 9 107542400 missense probably null 0.40
R5097:Nprl2 UTSW 9 107543532 missense probably damaging 0.99
R5422:Nprl2 UTSW 9 107543597 missense probably benign 0.00
R5544:Nprl2 UTSW 9 107544609 missense probably benign 0.00
R5915:Nprl2 UTSW 9 107545078 unclassified probably benign
R8022:Nprl2 UTSW 9 107543061 missense probably damaging 1.00
R8210:Nprl2 UTSW 9 107544748 missense probably damaging 1.00
Posted On2013-04-17