Mutagenetix > Incidental Mutation

Incidental Mutation 'R6429:Nptx1'

518441

Institutional Source

Beutler Lab

Gene Symbol

Nptx1

Ensembl Gene

ENSMUSG00000025582

Gene Name

neuronal pentraxin 1

Synonyms

D11Bwg1004e, Np1

MMRRC Submission

044567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119429545-119438579 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 119435547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 256 (C256*)

Ref Sequence

ENSEMBL: ENSMUSP00000026670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026670]

AlphaFold

Q62443

Predicted Effect

probably null
Transcript: ENSMUST00000026670
AA Change: C256*

SMART Domains

Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: C256*

Domain	Start	End	E-Value	Type
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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,366,652 (GRCm39)	E1565K	probably damaging	Het
Amy1	T	C	3: 113,363,158 (GRCm39)	N63S	probably damaging	Het
Arhgef15	G	T	11: 68,838,622 (GRCm39)	N591K	probably damaging	Het
AW551984	A	G	9: 39,511,910 (GRCm39)	S34P	probably damaging	Het
C2cd3	A	G	7: 100,081,298 (GRCm39)	D127G	probably damaging	Het
Ccdc87	T	A	19: 4,891,263 (GRCm39)	V585E	probably benign	Het
Cemip2	T	C	19: 21,779,272 (GRCm39)	C361R	probably benign	Het
Cul2	T	C	18: 3,421,345 (GRCm39)	I223T	probably damaging	Het
Dgkq	C	T	5: 108,801,574 (GRCm39)	V495M	probably damaging	Het
Dpp10	A	G	1: 123,295,330 (GRCm39)	I570T	possibly damaging	Het
Dstyk	C	T	1: 132,377,542 (GRCm39)	Q383*	probably null	Het
Emilin2	C	A	17: 71,617,951 (GRCm39)		probably benign	Het
Fnip1	A	G	11: 54,406,393 (GRCm39)	I1163M	probably damaging	Het
Fryl	C	T	5: 73,248,094 (GRCm39)	E1008K	possibly damaging	Het
Gm35315	A	T	5: 110,226,525 (GRCm39)	Y305N	possibly damaging	Het
Grhl3	T	A	4: 135,284,507 (GRCm39)	D195V	probably damaging	Het
Ift56	T	A	6: 38,375,248 (GRCm39)	S250T	possibly damaging	Het
Il33	T	C	19: 29,929,400 (GRCm39)	F41S	probably benign	Het
Il4	A	G	11: 53,504,736 (GRCm39)	S15P	possibly damaging	Het
Inf2	C	T	12: 112,570,690 (GRCm39)	P410S	probably benign	Het
Kalrn	T	A	16: 34,152,534 (GRCm39)	D349V	possibly damaging	Het
Krt4	A	G	15: 101,831,229 (GRCm39)	M224T	probably benign	Het
Lrp2	C	T	2: 69,291,631 (GRCm39)	S3516N	probably damaging	Het
Macf1	A	T	4: 123,295,387 (GRCm39)		probably null	Het
Msr1	G	A	8: 40,068,858 (GRCm39)	P213S	probably damaging	Het
Nr1d1	T	C	11: 98,662,840 (GRCm39)	Y51C	probably damaging	Het
Or4c11c	G	A	2: 88,661,869 (GRCm39)	R136Q	probably benign	Het
Panx3	T	C	9: 37,572,461 (GRCm39)	D363G	probably damaging	Het
Pira13	A	T	7: 3,825,345 (GRCm39)	H432Q	possibly damaging	Het
Prkag1	A	G	15: 98,712,404 (GRCm39)	F143L	probably damaging	Het
Ptger4	T	C	15: 5,272,478 (GRCm39)	K72R	possibly damaging	Het
Pvrig-ps	A	G	5: 138,340,312 (GRCm39)	T28A	probably benign	Het
Rhod	C	T	19: 4,476,133 (GRCm39)	C206Y	probably benign	Het
Rngtt	C	A	4: 33,320,606 (GRCm39)	S51*	probably null	Het
Rreb1	T	G	13: 38,116,105 (GRCm39)	S1155A	probably benign	Het
Scn9a	A	C	2: 66,357,307 (GRCm39)	I998S	possibly damaging	Het
Sfmbt1	T	A	14: 30,495,868 (GRCm39)	F50L	probably damaging	Het
Six4	A	T	12: 73,150,247 (GRCm39)	V766D	probably damaging	Het
Smpd1	T	C	7: 105,206,135 (GRCm39)	I421T	probably damaging	Het
Son	T	A	16: 91,455,054 (GRCm39)	M1267K	probably benign	Het
Styk1	T	A	6: 131,287,027 (GRCm39)	D156V	possibly damaging	Het
Supt3	A	G	17: 45,430,030 (GRCm39)	E361G	probably benign	Het
Tbx3	T	A	5: 119,812,256 (GRCm39)	Y185*	probably null	Het
Trpm1	A	T	7: 63,918,252 (GRCm39)	T531S	probably benign	Het
Tspan32	T	A	7: 142,572,479 (GRCm39)	W172R	possibly damaging	Het
Urb1	A	T	16: 90,559,318 (GRCm39)		probably null	Het
Vmn2r70	T	A	7: 85,208,276 (GRCm39)	I734F	probably damaging	Het
Vwa7	A	G	17: 35,243,175 (GRCm39)	T618A	probably benign	Het
Wac	T	A	18: 7,920,163 (GRCm39)	V339E	probably damaging	Het
Wrn	G	A	8: 33,833,024 (GRCm39)	T156M	probably damaging	Het
Zeb1	T	A	18: 5,770,498 (GRCm39)	C884S	probably damaging	Het
Zfp747l1	T	C	7: 126,984,214 (GRCm39)		probably benign	Het
Zmpste24	A	G	4: 120,952,867 (GRCm39)	V10A	probably damaging	Het

Other mutations in Nptx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R3924:Nptx1	UTSW	11	119,438,333 (GRCm39)	missense	possibly damaging	0.67
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'- AGGTTTCTAGAAGACCCGCAG -3'
(R):5'- ACTTGTACCCCGAGCACTTG -3'

Sequencing Primer
(F):5'- GCATGCAGCTCAGAGGACAC -3'
(R):5'- GAGCACTTGGTCAGGGTAC -3'

Posted On

2018-05-24