Mutagenetix > Incidental Mutation

Incidental Mutation 'R8121:Nptx1'

631516

Institutional Source

Beutler Lab

Gene Symbol

Nptx1

Ensembl Gene

ENSMUSG00000025582

Gene Name

neuronal pentraxin 1

Synonyms

D11Bwg1004e, Np1

MMRRC Submission

067550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119429545-119438579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119433492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 369 (T369I)

Ref Sequence

ENSEMBL: ENSMUSP00000026670 (fasta)

Gene Model

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

AlphaFold

Q62443

Predicted Effect

probably damaging
Transcript: ENSMUST00000026670
AA Change: T369I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: T369I

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

Meta Mutation Damage Score

0.5441

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 97.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,893 (GRCm39)	M273L	probably benign	Het
Abi3bp	A	T	16: 56,452,241 (GRCm39)	K912N	unknown	Het
Arfgap2	T	C	2: 91,096,028 (GRCm39)	F62L	probably benign	Het
Arhgap45	A	G	10: 79,853,909 (GRCm39)	E141G	probably damaging	Het
Atraid	G	A	5: 31,211,642 (GRCm39)		probably null	Het
Cd101	G	A	3: 100,927,898 (GRCm39)	A65V	probably damaging	Het
Cd177	A	G	7: 24,459,067 (GRCm39)	V114A	probably benign	Het
Cdh6	T	C	15: 13,044,757 (GRCm39)	N455S	probably damaging	Het
Cdk14	A	T	5: 5,277,195 (GRCm39)	S145T	possibly damaging	Het
Ces1h	T	C	8: 94,080,104 (GRCm39)	E470G	unknown	Het
Cfap58	A	G	19: 48,017,543 (GRCm39)	Y801C	probably benign	Het
Clec2d	C	T	6: 129,161,847 (GRCm39)	T160M	probably benign	Het
Cryz	A	G	3: 154,327,382 (GRCm39)	I269V	probably benign	Het
Ctdp1	A	T	18: 80,499,223 (GRCm39)	Y240N	probably damaging	Het
Dapk1	A	G	13: 60,909,212 (GRCm39)	Y1275C	probably damaging	Het
Dnah9	A	G	11: 65,908,201 (GRCm39)	I2385T	probably benign	Het
Dpp8	A	G	9: 64,985,362 (GRCm39)	M807V	probably benign	Het
Entpd3	T	A	9: 120,384,720 (GRCm39)	I99N	probably damaging	Het
Fbxw11	A	G	11: 32,670,646 (GRCm39)	E204G	possibly damaging	Het
Fscn1	T	C	5: 142,946,616 (GRCm39)	M138T	probably damaging	Het
Gm5114	T	A	7: 39,057,552 (GRCm39)	Q689L	probably benign	Het
Iqgap2	T	C	13: 95,861,076 (GRCm39)	N350S	probably benign	Het
Kcnj10	T	A	1: 172,196,809 (GRCm39)	C108S	probably damaging	Het
Krtap10-4	G	A	10: 77,662,840 (GRCm39)	R13C	unknown	Het
Lmo7	T	C	14: 102,163,736 (GRCm39)	I1527T	unknown	Het
Lrrc17	A	G	5: 21,775,329 (GRCm39)	K297R	probably benign	Het
Ltb4r1	G	A	14: 56,005,579 (GRCm39)	R294H	probably damaging	Het
Macc1	A	G	12: 119,410,324 (GRCm39)	D364G	probably damaging	Het
Mavs	A	C	2: 131,087,395 (GRCm39)	T298P	probably damaging	Het
Myh8	G	T	11: 67,180,647 (GRCm39)	A628S	probably benign	Het
Neurl4	A	T	11: 69,799,056 (GRCm39)		probably null	Het
Nicn1	C	A	9: 108,172,304 (GRCm39)	T213K	probably damaging	Het
Nt5c1a	T	C	4: 123,102,235 (GRCm39)	S54P	probably damaging	Het
Nup210l	G	A	3: 90,022,428 (GRCm39)	R132Q	probably damaging	Het
Or2b11	A	T	11: 59,461,870 (GRCm39)	I232N	probably damaging	Het
Or4k41	A	G	2: 111,279,505 (GRCm39)	T7A	probably benign	Het
Or4p18	A	T	2: 88,233,040 (GRCm39)	F79L	probably benign	Het
Or7g22	G	A	9: 19,048,988 (GRCm39)	G233E	probably damaging	Het
Pip5k1b	A	T	19: 24,337,355 (GRCm39)	I311N	probably damaging	Het
Pkdrej	C	T	15: 85,699,655 (GRCm39)	V2094I	probably benign	Het
Pla2g2f	A	G	4: 138,479,621 (GRCm39)	Y179H	probably damaging	Het
Plekha3	A	T	2: 76,516,992 (GRCm39)	T115S	probably damaging	Het
Ppp4c	A	G	7: 126,386,496 (GRCm39)	L167P	probably damaging	Het
Pramel28	T	A	4: 143,691,611 (GRCm39)	S371C	probably benign	Het
Rarg	A	G	15: 102,148,393 (GRCm39)	I238T	probably damaging	Het
Scn7a	A	T	2: 66,531,203 (GRCm39)	I558N	probably damaging	Het
Sema3a	C	A	5: 13,649,215 (GRCm39)	H655N	probably damaging	Het
Serpinb6c	T	C	13: 34,064,201 (GRCm39)	M285V	probably benign	Het
Setx	T	A	2: 29,035,046 (GRCm39)	S510R	possibly damaging	Het
Sgcz	A	G	8: 37,990,457 (GRCm39)	S299P	probably damaging	Het
Slc12a2	T	A	18: 58,032,403 (GRCm39)	F368I	probably benign	Het
Slc7a9	C	A	7: 35,153,542 (GRCm39)	T181K	probably damaging	Het
Slco2b1	G	A	7: 99,334,760 (GRCm39)	T237M	probably benign	Het
Spg11	A	G	2: 121,900,348 (GRCm39)		probably null	Het
Tbc1d22b	G	T	17: 29,791,945 (GRCm39)	G225V	probably damaging	Het
Tbcd	A	G	11: 121,487,969 (GRCm39)		probably null	Het
Unc93a	T	C	17: 13,328,560 (GRCm39)	Y431C	probably benign	Het
Vmn1r65	C	T	7: 6,011,464 (GRCm39)	V257I	possibly damaging	Het
Vmn2r124	A	T	17: 18,282,433 (GRCm39)	T154S	probably benign	Het
Wnk2	A	T	13: 49,214,415 (GRCm39)	L1487*	probably null	Het
Zfp853	G	A	5: 143,274,018 (GRCm39)	A549V	probably damaging	Het
Zfp936	C	T	7: 42,839,547 (GRCm39)	T338I	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
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'- AAGCCTCGAATGTCCACTTG -3'
(R):5'- CCAGCAGATAGGGTGTTTGAG -3'

Sequencing Primer
(F):5'- GATGACATTGCCAGAGAG -3'
(R):5'- GCTGCTGATGGCTCTCAACAAC -3'

Posted On

2020-06-30