Incidental Mutation 'IGL01634:Nptx1'
ID93563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nptx1
Ensembl Gene ENSMUSG00000025582
Gene Nameneuronal pentraxin 1
SynonymsD11Bwg1004e, Np1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01634
Quality Score
Status
Chromosome11
Chromosomal Location119538719-119547753 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119544672 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 273 (Y273H)
Ref Sequence ENSEMBL: ENSMUSP00000026670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026670]
Predicted Effect probably damaging
Transcript: ENSMUST00000026670
AA Change: Y273H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: Y273H

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
Coding Region Coverage
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,900,904 noncoding transcript Het
4933421I07Rik C T 7: 42,447,699 D63N probably benign Het
Alg9 C A 9: 50,775,377 probably null Het
Anln T C 9: 22,360,475 T695A probably benign Het
Aox4 G T 1: 58,221,930 D141Y possibly damaging Het
Arhgap21 C A 2: 20,914,644 Q84H probably benign Het
Arnt G A 3: 95,470,398 probably benign Het
Atp8a2 T A 14: 59,998,062 Y677F probably benign Het
Car6 C T 4: 150,198,153 V12M probably benign Het
Cd209d A T 8: 3,877,974 probably null Het
Ctnna1 T A 18: 35,223,448 V390E probably damaging Het
Cypt4 T A 9: 24,625,656 N147K possibly damaging Het
Dnah10 C A 5: 124,821,341 A3729E probably damaging Het
Dusp8 A G 7: 142,084,423 V156A probably benign Het
Ecm1 G A 3: 95,734,899 P458L probably damaging Het
Fat3 T G 9: 15,998,358 Y2116S probably damaging Het
Fscn3 T A 6: 28,430,538 Y236N probably damaging Het
Gaa G A 11: 119,274,076 S265N possibly damaging Het
Gas7 T C 11: 67,674,231 probably benign Het
Gbp8 T C 5: 105,018,572 K297R probably damaging Het
Gm1818 G A 12: 48,556,209 noncoding transcript Het
Gm5114 G T 7: 39,408,647 T516K probably benign Het
Hectd1 A G 12: 51,803,779 S165P probably damaging Het
Hoxb4 G T 11: 96,318,900 R44L probably damaging Het
Ivd G A 2: 118,876,382 R285H probably damaging Het
Krtap20-2 T C 16: 89,206,089 F59S unknown Het
Megf8 G A 7: 25,358,781 probably benign Het
Mgat4d A T 8: 83,368,116 M261L possibly damaging Het
Mlc1 A T 15: 88,974,718 probably benign Het
Mmp20 T A 9: 7,635,148 Y43* probably null Het
Morc3 G A 16: 93,873,237 V767I probably benign Het
Myo15 A G 11: 60,495,472 T1808A probably damaging Het
Notch4 T C 17: 34,572,588 F574L probably damaging Het
Npas3 G A 12: 53,947,163 V164M probably damaging Het
Oaf T C 9: 43,224,004 N159S probably damaging Het
Olfr1216 T A 2: 89,013,444 I207F probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr994 A T 2: 85,430,439 L130H probably damaging Het
Pgm1 T C 5: 64,100,974 F101L probably benign Het
Pkd1l3 A C 8: 109,667,525 probably null Het
Plcd1 C T 9: 119,073,789 R527H probably damaging Het
Rexo2 C T 9: 48,468,915 E206K probably damaging Het
Ropn1 C A 16: 34,666,778 T28N possibly damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpgrip1l T A 8: 91,252,544 S998C probably benign Het
Rpgrip1l C A 8: 91,252,543 S998I probably benign Het
Scap T C 9: 110,378,789 probably null Het
Sec23b T C 2: 144,559,230 Y4H probably damaging Het
Sfrp4 C A 13: 19,623,630 D66E possibly damaging Het
Slc25a36 T C 9: 97,080,481 T13A probably benign Het
Synpr A T 14: 13,608,576 I119F possibly damaging Het
Tamm41 A C 6: 115,016,098 H109Q probably benign Het
Tet1 A T 10: 62,878,588 I476K possibly damaging Het
Tg A T 15: 66,729,566 I142F probably benign Het
Thada A T 17: 84,393,358 probably null Het
Triobp T C 15: 78,993,368 L1654P probably damaging Het
Trpm7 A G 2: 126,826,818 V726A probably damaging Het
Txndc15 T G 13: 55,721,625 V197G probably damaging Het
Ubr3 A T 2: 69,973,572 T1169S probably benign Het
Uhmk1 C T 1: 170,207,113 probably null Het
Vmn2r16 T A 5: 109,340,311 M350K probably benign Het
Vmn2r77 G A 7: 86,811,649 V728I probably benign Het
Wipf1 G A 2: 73,447,881 P7S unknown Het
Zswim3 A G 2: 164,820,002 D134G probably damaging Het
Other mutations in Nptx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Nptx1 APN 11 119544596 missense possibly damaging 0.88
IGL03192:Nptx1 APN 11 119546759 missense probably benign 0.41
IGL03280:Nptx1 APN 11 119544729 missense probably damaging 1.00
R0220:Nptx1 UTSW 11 119544641 missense probably damaging 1.00
R0318:Nptx1 UTSW 11 119542541 missense probably damaging 1.00
R0634:Nptx1 UTSW 11 119543301 missense possibly damaging 0.76
R1951:Nptx1 UTSW 11 119543180 critical splice donor site probably null
R2258:Nptx1 UTSW 11 119543316 missense probably benign 0.10
R2259:Nptx1 UTSW 11 119543316 missense probably benign 0.10
R2698:Nptx1 UTSW 11 119544843 splice site probably benign
R3924:Nptx1 UTSW 11 119547507 missense possibly damaging 0.67
R6429:Nptx1 UTSW 11 119544721 nonsense probably null
R6866:Nptx1 UTSW 11 119546650 critical splice donor site probably null
R7246:Nptx1 UTSW 11 119544590 critical splice donor site probably null
R7808:Nptx1 UTSW 11 119544636 missense probably damaging 0.97
R8121:Nptx1 UTSW 11 119542666 missense probably damaging 1.00
Posted On2013-12-09