Incidental Mutation 'R5948:Nptxr'
ID 472295
Institutional Source Beutler Lab
Gene Symbol Nptxr
Ensembl Gene ENSMUSG00000022421
Gene Name neuronal pentraxin receptor
Synonyms 1700036C17Rik, NPR, 5730406O18Rik, D15Bwg0580e, NPCD
MMRRC Submission 043244-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5948 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 79670552-79688910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79674042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 445 (A445T)
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 probably benign
Transcript: ENSMUST00000023057
AA Change: A445T

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023057
Gene: ENSMUSG00000022421
AA Change: A445T

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 probably benign
Transcript: ENSMUST00000023060
AA Change: A324T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023060
Gene: ENSMUSG00000089837
AA Change: A324T

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
PTX 160 366 2.17e-97 SMART
Predicted Effect unknown
Transcript: ENSMUST00000089299
AA Change: A421T
SMART Domains Protein: ENSMUSP00000086714
Gene: ENSMUSG00000089837
AA Change: A421T

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 probably benign
Transcript: ENSMUST00000175858
AA Change: A445T

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135855
Gene: ENSMUSG00000022421
AA Change: A445T

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
PTX 160 366 2.17e-97 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 T C 3: 37,137,504 (GRCm39) probably null Het
Adam8 G T 7: 139,567,797 (GRCm39) D341E probably benign Het
Ankrd6 T C 4: 32,817,075 (GRCm39) T351A possibly damaging Het
Ccdc150 T C 1: 54,316,873 (GRCm39) S251P possibly damaging Het
Cfh T C 1: 140,036,546 (GRCm39) N629S probably damaging Het
Col4a2 T C 8: 11,470,600 (GRCm39) S453P probably benign Het
Csf2 T C 11: 54,138,514 (GRCm39) D109G probably benign Het
Dapk1 C A 13: 60,877,209 (GRCm39) H483N probably damaging Het
Dnah7c T G 1: 46,711,657 (GRCm39) I2628R probably benign Het
Dsp T C 13: 38,379,377 (GRCm39) Y2041H possibly damaging Het
Dusp10 A G 1: 183,801,073 (GRCm39) N280S probably benign Het
Efhc1 T A 1: 21,043,052 (GRCm39) Y324N probably damaging Het
Epsti1 T C 14: 78,177,330 (GRCm39) L170P probably damaging Het
Fbn2 C T 18: 58,170,121 (GRCm39) G2217R probably damaging Het
Fryl A G 5: 73,254,715 (GRCm39) probably null Het
Mrpl39 T C 16: 84,522,041 (GRCm39) N244D probably benign Het
Or1j15 A G 2: 36,459,363 (GRCm39) Y251C probably damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Parvb G A 15: 84,187,662 (GRCm39) V257M probably damaging Het
Piezo1 T C 8: 123,210,086 (GRCm39) E2258G probably benign Het
Prpf8 A G 11: 75,400,015 (GRCm39) E2303G possibly damaging Het
Psmc6 A G 14: 45,572,114 (GRCm39) D88G probably benign Het
Rbbp6 C T 7: 122,596,851 (GRCm39) T701I probably damaging Het
Rtl1 T A 12: 109,557,033 (GRCm39) D1602V possibly damaging Het
Rubcnl T C 14: 75,285,056 (GRCm39) L525P probably damaging Het
Sbf2 T C 7: 110,088,492 (GRCm39) D73G probably damaging Het
Sh3tc2 T A 18: 62,146,176 (GRCm39) M1185K probably damaging Het
Shank2 A G 7: 143,960,960 (GRCm39) K469E probably damaging Het
Ttc41 T C 10: 86,549,088 (GRCm39) L94P probably damaging Het
Ttf1 G A 2: 28,963,932 (GRCm39) A603T possibly damaging Het
Usp9y A T Y: 1,324,996 (GRCm39) H1686Q possibly damaging Het
Vps37a A G 8: 40,993,752 (GRCm39) E249G possibly damaging Het
Zfp273 A G 13: 67,973,918 (GRCm39) I316V probably benign Het
Zfp600 T A 4: 146,131,645 (GRCm39) N104K probably damaging 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
R6357:Nptxr UTSW 15 79,678,516 (GRCm39) missense possibly damaging 0.78
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'- CCTGAAACTGACAGGCAATGG -3'
(R):5'- CTTTGACAGTGAGGCTAGAGC -3'

Sequencing Primer
(F):5'- CAATGGAGGGGCCCTGAAC -3'
(R):5'- TAGAGCCCCAGGAGGTAGTC -3'
Posted On 2017-03-31