Incidental Mutation 'R8210:Nprl2'
ID 636124
Institutional Source Beutler Lab
Gene Symbol Nprl2
Ensembl Gene ENSMUSG00000010057
Gene Name NPR2 like, GATOR1 complex subunit
Synonyms NPRL2, 2810446G01Rik, NPR2L, Tusc4, G21
MMRRC Submission 067633-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.844) question?
Stock # R8210 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107419425-107422905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107421947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 241 (Y241S)
Ref Sequence ENSEMBL: ENSMUSP00000010201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010188] [ENSMUST00000010201] [ENSMUST00000041459] [ENSMUST00000193303] [ENSMUST00000194967] [ENSMUST00000195235] [ENSMUST00000195370]
AlphaFold Q9WUE4
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 damaging
Transcript: ENSMUST00000010201
AA Change: Y241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057
AA Change: Y241S

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 probably benign
Transcript: ENSMUST00000193303
Predicted Effect probably benign
Transcript: ENSMUST00000194344
Predicted Effect probably benign
Transcript: ENSMUST00000194967
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,517,083 (GRCm39) P577S probably damaging Het
Adal T C 2: 120,985,236 (GRCm39) V269A possibly damaging Het
Adam33 T C 2: 130,898,250 (GRCm39) T155A probably benign Het
Adgre1 A T 17: 57,752,061 (GRCm39) E603V possibly damaging Het
Adgrf4 T C 17: 42,978,441 (GRCm39) T301A probably damaging Het
Agtpbp1 G T 13: 59,630,385 (GRCm39) A782E possibly damaging Het
Ank3 A T 10: 69,811,925 (GRCm39) K1197N possibly damaging Het
Anxa9 A T 3: 95,213,207 (GRCm39) D46E probably damaging Het
Atg9a T C 1: 75,161,927 (GRCm39) T540A probably damaging Het
Atg9a A G 1: 75,163,009 (GRCm39) Y364H probably damaging Het
Bltp1 A C 3: 37,067,030 (GRCm39) E73A Het
Cd300c2 C T 11: 114,891,634 (GRCm39) G80D possibly damaging Het
Cebpz T C 17: 79,230,685 (GRCm39) E844G probably benign Het
Celsr1 T C 15: 85,863,436 (GRCm39) I1199V probably benign Het
Cftr A G 6: 18,220,696 (GRCm39) N189S probably damaging Het
Dhrs13 G T 11: 77,924,302 (GRCm39) R116I unknown Het
Dnah10 A G 5: 124,827,858 (GRCm39) M735V probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
E130208F15Rik C A 7: 30,021,619 (GRCm39) S93* probably null Het
E330034G19Rik T C 14: 24,346,104 (GRCm39) I92T Het
Eef1d A T 15: 75,768,309 (GRCm39) V511D probably damaging Het
Efna1 T G 3: 89,183,520 (GRCm39) E102A probably damaging Het
H2-M11 C A 17: 36,858,860 (GRCm39) F133L probably damaging Het
Htr3b G T 9: 48,847,343 (GRCm39) probably null Het
Kcns3 A G 12: 11,142,253 (GRCm39) S149P probably damaging Het
Lhx4 T A 1: 155,586,214 (GRCm39) probably null Het
Lrp1 C T 10: 127,412,354 (GRCm39) V1317M probably damaging Het
Mphosph9 A G 5: 124,405,174 (GRCm39) I799T probably damaging Het
Muc1 C T 3: 89,138,906 (GRCm39) A505V probably damaging Het
Muc6 C A 7: 141,235,673 (GRCm39) probably null Het
Mylk A G 16: 34,820,721 (GRCm39) D1891G probably damaging Het
Nfe2l3 A T 6: 51,428,065 (GRCm39) H209L probably benign Het
Oprm1 A T 10: 6,780,442 (GRCm39) Q368L probably benign Het
Or4g7 T A 2: 111,309,753 (GRCm39) M208K possibly damaging Het
Pcm1 C T 8: 41,766,974 (GRCm39) R1593C probably damaging Het
Pitpnm1 T C 19: 4,162,878 (GRCm39) probably null Het
Pnoc A G 14: 65,642,521 (GRCm39) S81P probably benign Het
Prkg2 T A 5: 99,114,393 (GRCm39) D585V probably damaging Het
Prpf38b A T 3: 108,815,148 (GRCm39) probably benign Het
Ranbp3l G T 15: 9,065,059 (GRCm39) S482I probably benign Het
Rapgef4 T C 2: 72,056,364 (GRCm39) F651L probably benign Het
Rasgrf1 A G 9: 89,793,675 (GRCm39) T151A unknown Het
Rnf215 T C 11: 4,085,544 (GRCm39) L91P possibly damaging Het
Rph3a T C 5: 121,099,312 (GRCm39) H193R probably benign Het
Rps17 C T 7: 80,994,750 (GRCm39) V4I probably benign Het
Sec61a2 A T 2: 5,881,728 (GRCm39) F234Y possibly damaging Het
Serpinb8 T C 1: 107,526,736 (GRCm39) L92P probably damaging Het
Slc1a6 A T 10: 78,632,091 (GRCm39) I306F possibly damaging Het
Slc26a11 T C 11: 119,270,692 (GRCm39) V538A possibly damaging Het
Slc27a1 G A 8: 72,032,566 (GRCm39) S193N probably benign Het
Slc9b1 T C 3: 135,097,948 (GRCm39) S393P probably damaging Het
Slfn3 T A 11: 83,105,332 (GRCm39) I320K possibly damaging Het
Spata31f1a T A 4: 42,848,542 (GRCm39) M1205L probably benign Het
Tgfbr1 A T 4: 47,406,924 (GRCm39) I420F probably benign Het
Tnik A T 3: 28,658,482 (GRCm39) D589V possibly damaging Het
Trappc8 A C 18: 21,006,938 (GRCm39) probably null Het
Ttbk1 A G 17: 46,791,087 (GRCm39) S66P possibly damaging Het
Unc13c A G 9: 73,392,220 (GRCm39) V2044A probably benign Het
Usp53 T C 3: 122,741,045 (GRCm39) E735G probably benign Het
Vmn2r-ps158 T A 7: 42,673,462 (GRCm39) N180K probably benign Het
Zfyve26 A T 12: 79,302,037 (GRCm39) V1853D probably damaging Het
Zkscan17 A G 11: 59,394,574 (GRCm39) V9A probably damaging Het
Other mutations in Nprl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Nprl2 APN 9 107,422,727 (GRCm39) missense probably benign 0.04
R0015:Nprl2 UTSW 9 107,421,618 (GRCm39) missense probably damaging 1.00
R0015:Nprl2 UTSW 9 107,421,618 (GRCm39) missense probably damaging 1.00
R0417:Nprl2 UTSW 9 107,420,497 (GRCm39) missense probably damaging 0.98
R0540:Nprl2 UTSW 9 107,422,497 (GRCm39) missense possibly damaging 0.50
R1507:Nprl2 UTSW 9 107,420,191 (GRCm39) missense probably benign 0.03
R2113:Nprl2 UTSW 9 107,422,511 (GRCm39) missense probably benign
R4969:Nprl2 UTSW 9 107,420,273 (GRCm39) critical splice donor site probably null
R5040:Nprl2 UTSW 9 107,419,599 (GRCm39) missense probably null 0.40
R5097:Nprl2 UTSW 9 107,420,731 (GRCm39) missense probably damaging 0.99
R5422:Nprl2 UTSW 9 107,420,796 (GRCm39) missense probably benign 0.00
R5544:Nprl2 UTSW 9 107,421,808 (GRCm39) missense probably benign 0.00
R5915:Nprl2 UTSW 9 107,422,277 (GRCm39) unclassified probably benign
R8022:Nprl2 UTSW 9 107,420,260 (GRCm39) missense probably damaging 1.00
R8907:Nprl2 UTSW 9 107,421,995 (GRCm39) missense probably damaging 0.97
R9331:Nprl2 UTSW 9 107,421,955 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCTAAAGGATGCTCAGTATGAGG -3'
(R):5'- AGACTGGCCCTTTTGTGTCC -3'

Sequencing Primer
(F):5'- TCGCCGCCTAGAAGCTAAG -3'
(R):5'- CCCTTTTGTGTCCTGCGGG -3'
Posted On 2020-07-13