Mutagenetix > Incidental Mutation

Incidental Mutation 'R8996:Nptx1'

684732

Institutional Source

Beutler Lab

Gene Symbol

Nptx1

Ensembl Gene

ENSMUSG00000025582

Gene Name

neuronal pentraxin 1

Synonyms

D11Bwg1004e, Np1

MMRRC Submission

068827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8996 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

119429545-119438579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119438394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 8 (R8C)

Ref Sequence

ENSEMBL: ENSMUSP00000026670 (fasta)

Gene Model

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

AlphaFold

Q62443

Predicted Effect

unknown
Transcript: ENSMUST00000026670
AA Change: R8C

SMART Domains

Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: R8C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,769,069 (GRCm39)	I764V	probably benign	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Alcam	T	C	16: 52,126,114 (GRCm39)	I68V	probably benign	Het
Atp8b2	A	G	3: 89,850,696 (GRCm39)	L75P	probably damaging	Het
B3gnt6	T	C	7: 97,842,799 (GRCm39)	N387S	probably benign	Het
Btn2a2	T	C	13: 23,662,831 (GRCm39)	E373G	probably damaging	Het
Cfap65	G	A	1: 74,941,347 (GRCm39)	H1831Y	probably benign	Het
Cftr	T	A	6: 18,255,945 (GRCm39)	C564*	probably null	Het
Chd6	A	G	2: 160,823,543 (GRCm39)	W1276R	probably damaging	Het
Csmd1	T	C	8: 15,971,105 (GRCm39)	E3070G	possibly damaging	Het
Cxcr4	A	G	1: 128,517,538 (GRCm39)	I41T	possibly damaging	Het
Dnhd1	T	A	7: 105,323,242 (GRCm39)	N583K	probably damaging	Het
Fignl1	G	T	11: 11,752,953 (GRCm39)	P34Q	probably damaging	Het
Frg2f1	T	C	4: 119,388,085 (GRCm39)	D138G	probably damaging	Het
Gabra4	A	T	5: 71,729,046 (GRCm39)	M578K	possibly damaging	Het
Gnb5	T	C	9: 75,251,805 (GRCm39)	V351A	probably benign	Het
H2-Ob	A	T	17: 34,462,531 (GRCm39)	I245F	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igkv4-54	A	T	6: 69,608,774 (GRCm39)	Y48*	probably null	Het
Kdm7a	A	C	6: 39,129,786 (GRCm39)	H463Q	probably benign	Het
L3mbtl4	A	G	17: 68,769,997 (GRCm39)	T256A	probably benign	Het
Lhpp	A	G	7: 132,212,484 (GRCm39)	D17G	probably damaging	Het
Mis18bp1	C	T	12: 65,180,632 (GRCm39)	V950I	probably benign	Het
Mms22l	T	A	4: 24,598,884 (GRCm39)		probably null	Het
Mrgpra4	T	C	7: 47,630,945 (GRCm39)	T219A	probably benign	Het
Plcxd1	A	G	5: 110,250,444 (GRCm39)	T262A	probably benign	Het
Sf1	G	A	19: 6,426,441 (GRCm39)	G221S		Het
Shkbp1	A	G	7: 27,042,844 (GRCm39)	V531A	possibly damaging	Het
Slc12a3	A	T	8: 95,056,063 (GRCm39)	E66D	probably benign	Het
Slc14a1	A	T	18: 78,156,911 (GRCm39)	I198K	possibly damaging	Het
Spag8	T	C	4: 43,651,998 (GRCm39)	E362G	probably damaging	Het
Speer4c1	T	A	5: 15,915,886 (GRCm39)	I161L	probably benign	Het
Stk3	A	G	15: 34,945,208 (GRCm39)	S427P	possibly damaging	Het
Stt3b	T	C	9: 115,073,065 (GRCm39)	K814E	unknown	Het
Synpo	T	A	18: 60,737,230 (GRCm39)	I239F	possibly damaging	Het
Tcf7l1	G	T	6: 72,765,563 (GRCm39)	R97S	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,887,247 (GRCm39)	Y56N	probably benign	Het
Ttc39c	A	G	18: 12,820,136 (GRCm39)	N112S	probably benign	Het
Usp14	T	C	18: 10,000,521 (GRCm39)	K380E	probably benign	Het
Usp17lb	C	T	7: 104,490,889 (GRCm39)	A13T	probably benign	Het
Usp4	G	A	9: 108,268,909 (GRCm39)	R921H	probably damaging	Het
Xndc1	A	G	7: 101,722,518 (GRCm39)	D61G	probably damaging	Het
Zfp1006	G	A	8: 129,946,016 (GRCm39)	P270S	possibly 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
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
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'- ATGGTCTCCTTCTGCTGCAG -3'
(R):5'- CACACAATTAAAGCGGGATTCCTC -3'

Sequencing Primer
(F):5'- CTGCAGCACGGTCTCGC -3'
(R):5'- TCCCGCGGCTGCATAAAAG -3'

Posted On

2021-10-11