Mutagenetix > Incidental Mutation

Incidental Mutation 'R0219:Nptx2'

215983

Institutional Source

Beutler Lab

Gene Symbol

Nptx2

Ensembl Gene

ENSMUSG00000059991

Gene Name

neuronal pentraxin 2

Synonyms

np2, narp

MMRRC Submission

038468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0219 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

144482712-144494288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144484950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 148 (S148P)

Ref Sequence

ENSEMBL: ENSMUSP00000071687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071782]

AlphaFold

O70340

Predicted Effect

probably damaging
Transcript: ENSMUST00000071782
AA Change: S148P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071687
Gene: ENSMUSG00000059991
AA Change: S148P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:HAMP	86	140	2e-11	BLAST
low complexity region	157	173	N/A	INTRINSIC
PTX	217	422	2.17e-106	SMART

Meta Mutation Damage Score

0.1314

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]
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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,849,885 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,371,005 (GRCm39)	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,958,906 (GRCm39)		probably benign	Het
Ankle2	C	T	5: 110,399,511 (GRCm39)	R624*	probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Brca2	A	G	5: 150,446,640 (GRCm39)		probably benign	Het
Ccdc116	T	A	16: 16,959,476 (GRCm39)	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,614,678 (GRCm39)		probably benign	Het
Ccdc80	A	G	16: 44,916,846 (GRCm39)	K534R	probably damaging	Het
Ccna1	T	C	3: 54,958,348 (GRCm39)	I112V	probably benign	Het
Cdhr1	A	C	14: 36,801,558 (GRCm39)	L795R	possibly damaging	Het
Cilp	C	A	9: 65,176,872 (GRCm39)	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,720,976 (GRCm39)		probably benign	Het
Ddx59	C	A	1: 136,360,047 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,865,996 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,658,384 (GRCm39)		probably null	Het
Dst	T	G	1: 34,342,559 (GRCm39)	S5030A	probably damaging	Het
Dysf	G	A	6: 84,106,443 (GRCm39)		probably benign	Het
Farp1	C	A	14: 121,481,012 (GRCm39)	P471Q	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,058,795 (GRCm39)	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,717,618 (GRCm39)	V21A	probably benign	Het
Gm9912	T	C	3: 148,891,131 (GRCm39)	I1V	unknown	Het
Guf1	G	A	5: 69,716,929 (GRCm39)	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,475,876 (GRCm39)	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,066,474 (GRCm39)		probably benign	Het
Iglon5	A	T	7: 43,126,261 (GRCm39)	V214E	probably damaging	Het
Isx	C	A	8: 75,616,589 (GRCm39)		probably null	Het
Kank4	T	C	4: 98,666,702 (GRCm39)	N582D	probably benign	Het
Kcp	T	A	6: 29,495,784 (GRCm39)	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,291,857 (GRCm39)	C825R	probably damaging	Het
Krt25	G	A	11: 99,208,885 (GRCm39)	T315M	probably benign	Het
Lrp5	A	T	19: 3,647,349 (GRCm39)	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,356,156 (GRCm39)	D921G	probably damaging	Het
Mrgprx1	C	A	7: 47,671,294 (GRCm39)	W151L	probably damaging	Het
Mylk3	T	A	8: 86,081,873 (GRCm39)	D375V	probably damaging	Het
Nav3	C	T	10: 109,702,791 (GRCm39)		probably null	Het
Ncan	A	G	8: 70,567,984 (GRCm39)	S43P	probably benign	Het
Necab3	G	T	2: 154,388,013 (GRCm39)	Q292K	probably benign	Het
Or2at4	A	T	7: 99,385,135 (GRCm39)	I262L	probably benign	Het
Or6p1	G	A	1: 174,258,032 (GRCm39)	V13I	probably benign	Het
Pde6a	A	G	18: 61,419,006 (GRCm39)	E794G	possibly damaging	Het
Pus7	T	C	5: 23,980,964 (GRCm39)	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,496,508 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,603 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,424 (GRCm39)	A78S	probably benign	Het
Shkbp1	T	C	7: 27,051,486 (GRCm39)	E191G	probably benign	Het
Slc6a18	A	T	13: 73,822,751 (GRCm39)		probably null	Het
Stxbp5	T	C	10: 9,646,272 (GRCm39)	T147A	probably benign	Het
Sv2b	A	G	7: 74,807,015 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,088,778 (GRCm39)	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,773,347 (GRCm39)	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,476,820 (GRCm39)	V814A	probably damaging	Het
Togaram2	T	C	17: 72,021,225 (GRCm39)		probably benign	Het
Tpr	T	C	1: 150,319,009 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,730,572 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,157,568 (GRCm39)	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,600,537 (GRCm39)	E1987G	probably damaging	Het
Utrn	T	C	10: 12,560,195 (GRCm39)	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,605,072 (GRCm39)	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,411,734 (GRCm39)	V278A	probably damaging	Het
Vps13d	C	T	4: 144,832,479 (GRCm39)	S2809N	probably benign	Het
Zfp212	G	A	6: 47,903,619 (GRCm39)	R68H	probably damaging	Het
Zfp442	A	T	2: 150,253,160 (GRCm39)	L33Q	probably damaging	Het
Zfp629	T	C	7: 127,211,255 (GRCm39)	S185G	probably damaging	Het
Zfp738	A	G	13: 67,831,508 (GRCm39)		probably benign	Het

Other mutations in Nptx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02340:Nptx2	APN	5	144,493,056 (GRCm39)	missense	probably damaging	1.00
R0304:Nptx2	UTSW	5	144,490,460 (GRCm39)	splice site	probably benign
R0482:Nptx2	UTSW	5	144,490,269 (GRCm39)	missense	probably damaging	1.00
R1752:Nptx2	UTSW	5	144,492,171 (GRCm39)	missense	probably damaging	1.00
R1774:Nptx2	UTSW	5	144,490,248 (GRCm39)	missense	possibly damaging	0.67
R1793:Nptx2	UTSW	5	144,485,130 (GRCm39)	missense	probably benign
R2115:Nptx2	UTSW	5	144,492,216 (GRCm39)	missense	probably damaging	1.00
R2484:Nptx2	UTSW	5	144,493,155 (GRCm39)	missense	probably damaging	1.00
R4066:Nptx2	UTSW	5	144,493,122 (GRCm39)	missense	probably damaging	1.00
R4755:Nptx2	UTSW	5	144,483,250 (GRCm39)	missense	probably benign	0.01
R5238:Nptx2	UTSW	5	144,493,041 (GRCm39)	missense	probably damaging	0.96
R5497:Nptx2	UTSW	5	144,492,999 (GRCm39)	missense	probably damaging	1.00
R6379:Nptx2	UTSW	5	144,490,252 (GRCm39)	missense	probably damaging	1.00
R9148:Nptx2	UTSW	5	144,492,980 (GRCm39)	missense	probably benign	0.08
R9628:Nptx2	UTSW	5	144,490,261 (GRCm39)	missense	probably benign	0.22
R9673:Nptx2	UTSW	5	144,492,159 (GRCm39)	missense	possibly damaging	0.93
R9746:Nptx2	UTSW	5	144,484,950 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCTAGATGAAAGCTCGCTGGCTTTG -3'
(R):5'- GACACCTCCATGTTGTGCCACTAC -3'

Sequencing Primer
(F):5'- TACCAAAAAggcggcgg -3'
(R):5'- TCTCAGACAGAgcgccg -3'

Posted On

2014-07-16