Incidental Mutation 'R6357:Nptxr'
ID 512399
Institutional Source Beutler Lab
Gene Symbol Nptxr
Ensembl Gene ENSMUSG00000022421
Gene Name neuronal pentraxin receptor
Synonyms 1700036C17Rik, NPR, 5730406O18Rik, D15Bwg0580e, NPCD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6357 (G1)
Quality Score 184.009
Status Not validated
Chromosome 15
Chromosomal Location 79670552-79688910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79678516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 257 (R257L)
Ref Sequence ENSEMBL: ENSMUSP00000023057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023057] [ENSMUST00000023060] [ENSMUST00000089299] [ENSMUST00000175858]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023057
AA Change: R257L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023057
Gene: ENSMUSG00000022421
AA Change: R257L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 43 53 N/A INTRINSIC
low complexity region 57 71 N/A INTRINSIC
low complexity region 77 93 N/A INTRINSIC
PTX 281 487 2.17e-97 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000023060
AA Change: R136L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023060
Gene: ENSMUSG00000089837
AA Change: R136L

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
PTX 160 366 2.17e-97 SMART
Predicted Effect unknown
Transcript: ENSMUST00000089299
AA Change: R233L
SMART Domains Protein: ENSMUSP00000086714
Gene: ENSMUSG00000089837
AA Change: R233L

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
low complexity region 98 115 N/A INTRINSIC
PTX 257 463 2.17e-97 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125283
Predicted Effect possibly damaging
Transcript: ENSMUST00000175858
AA Change: R257L

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135855
Gene: ENSMUSG00000022421
AA Change: R257L

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
PTX 160 366 2.17e-97 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation of this gene display a mild alteration in retinal ganglion cell innervation but are fertile with no obvious behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T C 17: 57,184,591 (GRCm39) probably null Het
Aoc1l2 A G 6: 48,907,908 (GRCm39) M303V probably benign Het
Armh4 A T 14: 50,010,769 (GRCm39) S313T probably benign Het
Calcr T C 6: 3,714,710 (GRCm39) D140G probably benign Het
Card10 T C 15: 78,683,579 (GRCm39) E188G probably damaging Het
Cenpq T C 17: 41,235,418 (GRCm39) E193G probably damaging Het
Cep164 G A 9: 45,682,182 (GRCm39) L1874F probably damaging Het
Dennd3 T C 15: 73,428,321 (GRCm39) M889T possibly damaging Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dynlt2b T G 16: 32,247,873 (GRCm39) probably null Het
Eci2 A G 13: 35,177,082 (GRCm39) V26A possibly damaging Het
Eftud2 A T 11: 102,755,606 (GRCm39) N200K probably damaging Het
Eml5 T A 12: 98,837,143 (GRCm39) H357L probably damaging Het
Esam T C 9: 37,449,076 (GRCm39) *395R probably null Het
Galt C T 4: 41,757,565 (GRCm39) P246S probably benign Het
Gjb3 A T 4: 127,220,423 (GRCm39) Y36* probably null Het
Gli2 T C 1: 118,769,689 (GRCm39) E621G probably damaging Het
Gls T C 1: 52,258,665 (GRCm39) D201G probably damaging Het
Gm10801 C CGTCA 2: 98,494,152 (GRCm39) probably null Het
Gm1110 T C 9: 26,825,424 (GRCm39) probably null Het
Gm5565 T A 5: 146,097,283 (GRCm39) H13L possibly damaging Het
Hydin A C 8: 111,268,289 (GRCm39) T2923P possibly damaging Het
Kank1 A T 19: 25,388,717 (GRCm39) I797L probably benign Het
Klhdc8a A T 1: 132,230,891 (GRCm39) Q252L probably damaging Het
Kmt5c T C 7: 4,745,204 (GRCm39) F65S possibly damaging Het
Lix1 C T 17: 17,666,255 (GRCm39) P138L probably benign Het
Lnpep T C 17: 17,773,176 (GRCm39) N664S probably benign Het
Msh6 T A 17: 88,291,888 (GRCm39) Y214* probably null Het
Nefl A G 14: 68,321,767 (GRCm39) E119G probably damaging Het
Or4k15c C A 14: 50,321,446 (GRCm39) A231S probably damaging Het
Or7e173 T A 9: 19,938,925 (GRCm39) Q103L probably damaging Het
Oxct2b A G 4: 123,010,709 (GRCm39) I210V probably benign Het
Plppr3 T A 10: 79,701,240 (GRCm39) Q534L probably benign Het
Psma1 T C 7: 113,873,602 (GRCm39) probably null Het
Rbp3 G A 14: 33,678,991 (GRCm39) A980T probably damaging Het
Ripply2 T A 9: 86,898,331 (GRCm39) S58R possibly damaging Het
Robo1 T C 16: 72,767,190 (GRCm39) V454A probably benign Het
Sacs A G 14: 61,446,273 (GRCm39) D2773G possibly damaging Het
Sirpb1b A T 3: 15,568,243 (GRCm39) V366E possibly damaging Het
Slc5a7 T C 17: 54,594,389 (GRCm39) I197M probably benign Het
Spata31f1a T A 4: 42,850,393 (GRCm39) I588F probably damaging Het
Spmap2 T C 10: 79,422,789 (GRCm39) S38G probably benign Het
Srgap2 T C 1: 131,283,280 (GRCm39) Y267C probably damaging Het
Ssc4d T C 5: 135,994,950 (GRCm39) T189A probably benign Het
Tas2r106 A G 6: 131,654,925 (GRCm39) *309Q probably null Het
Vmn2r44 T C 7: 8,373,657 (GRCm39) M511V probably benign Het
Wdfy4 G T 14: 32,823,006 (GRCm39) Y1364* probably null Het
Zbtb8a T C 4: 129,248,092 (GRCm39) H393R probably benign Het
Other mutations in Nptxr
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0180:Nptxr UTSW 15 79,678,604 (GRCm39) missense probably benign 0.09
R0208:Nptxr UTSW 15 79,673,916 (GRCm39) missense probably null 1.00
R1055:Nptxr UTSW 15 79,674,456 (GRCm39) splice site probably benign
R1487:Nptxr UTSW 15 79,674,104 (GRCm39) missense probably damaging 1.00
R4820:Nptxr UTSW 15 79,677,027 (GRCm39) missense probably damaging 1.00
R5948:Nptxr UTSW 15 79,674,042 (GRCm39) missense probably benign 0.42
R8803:Nptxr UTSW 15 79,678,655 (GRCm39) missense probably damaging 1.00
X0017:Nptxr UTSW 15 79,674,043 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAAAGTGACAGCCATCCCC -3'
(R):5'- GAAGCTAAGATCGCCTGTGG -3'

Sequencing Primer
(F):5'- ATCCCCCAGCAGGCTCTC -3'
(R):5'- ACGGCTGTGTGACACCAC -3'
Posted On 2018-04-27