Incidental Mutation 'R3924:Nptx1'
ID 359692
Institutional Source Beutler Lab
Gene Symbol Nptx1
Ensembl Gene ENSMUSG00000025582
Gene Name neuronal pentraxin 1
Synonyms D11Bwg1004e, Np1
MMRRC Submission 040915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3924 (G1)
Quality Score 56
Status Validated
Chromosome 11
Chromosomal Location 119429545-119438579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119438333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 28 (T28N)
Ref Sequence ENSEMBL: ENSMUSP00000026670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026670]
AlphaFold Q62443
Predicted Effect possibly damaging
Transcript: ENSMUST00000026670
AA Change: T28N

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: T28N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
coiled coil region 52 72 N/A INTRINSIC
low complexity region 129 140 N/A INTRINSIC
PTX 222 428 1.31e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135630
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik G T 9: 53,343,705 (GRCm39) V119F probably benign Het
Agtpbp1 A T 13: 59,648,221 (GRCm39) V533D probably benign Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Aldh3b3 A G 19: 4,018,491 (GRCm39) N402S probably damaging Het
Amn T C 12: 111,242,114 (GRCm39) V367A possibly damaging Het
Arpin A G 7: 79,579,435 (GRCm39) Y63H probably benign Het
Brinp2 A G 1: 158,073,778 (GRCm39) L781P probably damaging Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cfap43 T C 19: 47,785,555 (GRCm39) K445R probably benign Het
Csad T C 15: 102,086,991 (GRCm39) S427G probably benign Het
Dach1 A G 14: 98,153,339 (GRCm39) V443A probably damaging Het
Dlat A G 9: 50,569,490 (GRCm39) S160P possibly damaging Het
Dpf1 A G 7: 29,011,098 (GRCm39) R165G possibly damaging Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Fa2h A G 8: 112,120,147 (GRCm39) Y80H probably damaging Het
Flii A G 11: 60,610,902 (GRCm39) F509S probably damaging Het
Fmo9 A G 1: 166,492,221 (GRCm39) S350P probably benign Het
Gabra4 A G 5: 71,799,596 (GRCm39) probably benign Het
Gm3604 A G 13: 62,518,044 (GRCm39) S105P probably damaging Het
Gpr155 T A 2: 73,200,420 (GRCm39) L362F probably damaging Het
Lmbrd2 T C 15: 9,149,624 (GRCm39) V86A probably benign Het
Lpcat4 G T 2: 112,077,061 (GRCm39) Q468H possibly damaging Het
Luzp1 T C 4: 136,270,168 (GRCm39) I797T probably damaging Het
Myh8 A T 11: 67,187,963 (GRCm39) I912F probably damaging Het
Notch2 G T 3: 98,029,350 (GRCm39) G1038* probably null Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or9i2 T C 19: 13,816,130 (GRCm39) T136A probably damaging Het
Plekha5 A G 6: 140,516,105 (GRCm39) N317S possibly damaging Het
Polr1a A G 6: 71,906,434 (GRCm39) M417V probably benign Het
Ptpn13 T C 5: 103,698,607 (GRCm39) probably benign Het
Qrfpr T C 3: 36,276,072 (GRCm39) N106S possibly damaging Het
Rasd2 A G 8: 75,948,602 (GRCm39) N176S probably damaging Het
Rsbn1l A G 5: 21,124,785 (GRCm39) V339A probably damaging Het
Ryr3 A G 2: 112,859,048 (GRCm39) probably benign Het
Shkbp1 A G 7: 27,041,827 (GRCm39) W676R probably benign Het
Sipa1 G A 19: 5,710,407 (GRCm39) T201I probably benign Het
Slc35g2 A T 9: 100,434,780 (GRCm39) I297N probably benign Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Zfp946 G T 17: 22,674,682 (GRCm39) G479C probably benign Het
Other mutations in Nptx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Nptx1 APN 11 119,435,498 (GRCm39) missense probably damaging 1.00
IGL02027:Nptx1 APN 11 119,435,422 (GRCm39) missense possibly damaging 0.88
IGL03192:Nptx1 APN 11 119,437,585 (GRCm39) missense probably benign 0.41
IGL03280:Nptx1 APN 11 119,435,555 (GRCm39) missense probably damaging 1.00
R0220:Nptx1 UTSW 11 119,435,467 (GRCm39) missense probably damaging 1.00
R0318:Nptx1 UTSW 11 119,433,367 (GRCm39) missense probably damaging 1.00
R0634:Nptx1 UTSW 11 119,434,127 (GRCm39) missense possibly damaging 0.76
R1951:Nptx1 UTSW 11 119,434,006 (GRCm39) critical splice donor site probably null
R2258:Nptx1 UTSW 11 119,434,142 (GRCm39) missense probably benign 0.10
R2259:Nptx1 UTSW 11 119,434,142 (GRCm39) missense probably benign 0.10
R2698:Nptx1 UTSW 11 119,435,669 (GRCm39) splice site probably benign
R6429:Nptx1 UTSW 11 119,435,547 (GRCm39) nonsense probably null
R6866:Nptx1 UTSW 11 119,437,476 (GRCm39) critical splice donor site probably null
R7246:Nptx1 UTSW 11 119,435,416 (GRCm39) critical splice donor site probably null
R7808:Nptx1 UTSW 11 119,435,462 (GRCm39) missense probably damaging 0.97
R8121:Nptx1 UTSW 11 119,433,492 (GRCm39) missense probably damaging 1.00
R8996:Nptx1 UTSW 11 119,438,394 (GRCm39) missense unknown
R9321:Nptx1 UTSW 11 119,438,378 (GRCm39) missense unknown
R9516:Nptx1 UTSW 11 119,433,381 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAAGTTTGCCCGAGTTGG -3'
(R):5'- CACACAATTAAAGCGGGATTCC -3'

Sequencing Primer
(F):5'- ACAGGTCGCCCATCGTGTTC -3'
(R):5'- TCCCGCGGCTGCATAAAAG -3'
Posted On 2015-11-23