Mutagenetix > Incidental Mutation

Incidental Mutation 'R1055:Nptxr'

94309

Institutional Source

Beutler Lab

Gene Symbol

Nptxr

Ensembl Gene

ENSMUSG00000022421

Gene Name

neuronal pentraxin receptor

Synonyms

1700036C17Rik, NPR, 5730406O18Rik, D15Bwg0580e, NPCD

MMRRC Submission

039145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1055 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

79670552-79688910 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 79674456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023057] [ENSMUST00000023060] [ENSMUST00000089299] [ENSMUST00000175858]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023057

SMART Domains

Protein: ENSMUSP00000023057
Gene: ENSMUSG00000022421

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	43	53	N/A	INTRINSIC
low complexity region	57	71	N/A	INTRINSIC
low complexity region	77	93	N/A	INTRINSIC
PTX	281	487	2.17e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023060

SMART Domains

Protein: ENSMUSP00000023060
Gene: ENSMUSG00000089837

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
PTX	160	366	2.17e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089299

SMART Domains

Protein: ENSMUSP00000086714
Gene: ENSMUSG00000089837

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
low complexity region	98	115	N/A	INTRINSIC
PTX	257	463	2.17e-97	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125283

Predicted Effect

probably benign
Transcript: ENSMUST00000175858

SMART Domains

Protein: ENSMUSP00000135855
Gene: ENSMUSG00000022421

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
PTX	160	366	2.17e-97	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,210,724 (GRCm39)	V168A	possibly damaging	Het
A1cf	C	A	19: 31,909,919 (GRCm39)	T237N	probably benign	Het
Actl10	A	T	2: 154,394,588 (GRCm39)	Q180L	probably benign	Het
Adcy1	T	C	11: 7,059,075 (GRCm39)	L327P	probably damaging	Het
Adcy7	T	C	8: 89,044,685 (GRCm39)		probably benign	Het
Ahctf1	G	A	1: 179,591,051 (GRCm39)	T1243I	possibly damaging	Het
Akap6	C	T	12: 52,927,455 (GRCm39)	Q122*	probably null	Het
Apob	G	A	12: 8,044,963 (GRCm39)	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,624,425 (GRCm39)	T539P	probably benign	Het
Cd244a	T	A	1: 171,404,844 (GRCm39)	V232E	probably damaging	Het
Chia1	A	C	3: 106,038,199 (GRCm39)	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,768,500 (GRCm39)	Q5*	probably null	Het
Clrn1	T	A	3: 58,772,531 (GRCm39)	I117F	probably benign	Het
Csmd3	A	G	15: 47,744,933 (GRCm39)	L1354P	probably damaging	Het
Csn2	G	A	5: 87,842,596 (GRCm39)	P144S	possibly damaging	Het
Dcdc2a	T	A	13: 25,286,593 (GRCm39)	M172K	probably damaging	Het
Dnah9	A	T	11: 66,050,837 (GRCm39)	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,922,864 (GRCm39)	S82T	probably benign	Het
Ebf1	A	G	11: 44,523,602 (GRCm39)	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,718,038 (GRCm39)	R504S	probably damaging	Het
Gpank1	T	A	17: 35,343,284 (GRCm39)	S255T	probably damaging	Het
Greb1	T	C	12: 16,732,252 (GRCm39)	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,292,478 (GRCm39)	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,863,270 (GRCm39)	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ilrun	T	C	17: 27,986,910 (GRCm39)	N272S	probably damaging	Het
Khdrbs2	A	T	1: 32,683,238 (GRCm39)		probably benign	Het
Lix1l	G	T	3: 96,528,626 (GRCm39)	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,755,114 (GRCm39)	N141S	probably damaging	Het
Marchf11	A	T	15: 26,309,748 (GRCm39)	D134V	probably damaging	Het
Myo9a	A	T	9: 59,762,653 (GRCm39)	T795S	probably benign	Het
Nhsl1	T	A	10: 18,401,223 (GRCm39)	D782E	probably benign	Het
Nrp1	A	G	8: 129,195,079 (GRCm39)	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or12e7	ATTGCTACTC	A	2: 87,287,781 (GRCm39)		probably benign	Het
Or5b3	G	A	19: 13,388,754 (GRCm39)	A274T	probably benign	Het
Pard3	T	C	8: 128,104,761 (GRCm39)	F267S	probably benign	Het
Pomt2	G	A	12: 87,194,254 (GRCm39)	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,104,137 (GRCm39)	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,382,080 (GRCm39)	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,193,558 (GRCm39)	V591D	probably damaging	Het
Sall3	A	C	18: 81,013,007 (GRCm39)	M1143R	probably benign	Het
Scgb1b19	G	T	7: 32,986,768 (GRCm39)	A13S	unknown	Het
Scn1a	T	C	2: 66,168,340 (GRCm39)	T89A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr42e1	T	G	8: 118,390,323 (GRCm39)	N106T	probably damaging	Het
Shpk	A	T	11: 73,105,945 (GRCm39)	M266L	probably benign	Het
Slc34a1	G	T	13: 55,550,846 (GRCm39)	R139L	probably benign	Het
Smbd1	C	A	16: 32,627,088 (GRCm39)	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,301,485 (GRCm39)	N238S	probably benign	Het
Tmprss2	T	C	16: 97,377,462 (GRCm39)	N212D	probably damaging	Het
Uap1	G	T	1: 169,984,480 (GRCm39)		probably benign	Het
Ugt1a6a	A	G	1: 88,066,736 (GRCm39)	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,477,326 (GRCm39)	W355*	probably null	Het
Vmn2r86	T	A	10: 130,282,226 (GRCm39)	S797C	probably damaging	Het
Wiz	A	G	17: 32,606,616 (GRCm39)	S40P	probably damaging	Het
Zfand6	A	G	7: 84,265,181 (GRCm39)		probably benign	Het
Zfp280d	G	A	9: 72,236,449 (GRCm39)		probably null	Het

Other mutations in Nptxr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0180:Nptxr	UTSW	15	79,678,604 (GRCm39)	missense	probably benign	0.09
R0208:Nptxr	UTSW	15	79,673,916 (GRCm39)	missense	probably null	1.00
R1487:Nptxr	UTSW	15	79,674,104 (GRCm39)	missense	probably damaging	1.00
R4820:Nptxr	UTSW	15	79,677,027 (GRCm39)	missense	probably damaging	1.00
R5948:Nptxr	UTSW	15	79,674,042 (GRCm39)	missense	probably benign	0.42
R6357:Nptxr	UTSW	15	79,678,516 (GRCm39)	missense	possibly damaging	0.78
R8803:Nptxr	UTSW	15	79,678,655 (GRCm39)	missense	probably damaging	1.00
X0017:Nptxr	UTSW	15	79,674,043 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAAAGCCTGGTTCCCAAGGTTC -3'
(R):5'- GCAACTGGCACCATATCTGCATCTC -3'

Sequencing Primer
(F):5'- GGTTCCCAAGGTTCTAGCCC -3'
(R):5'- TCTCCTGGACTACAAGGGATG -3'

Posted On

2014-01-05