Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Npl'

387548

Institutional Source

Beutler Lab

Gene Symbol

Npl

Ensembl Gene

ENSMUSG00000042684

Gene Name

N-acetylneuraminate pyruvate lyase

Synonyms

0610033B02Rik

MMRRC Submission

042677-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153378762-153425460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153384890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 249 (I249N)

Ref Sequence

ENSEMBL: ENSMUSP00000037454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041874]

AlphaFold

Q9DCJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041874
AA Change: I249N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037454
Gene: ENSMUSG00000042684
AA Change: I249N

Domain	Start	End	E-Value	Type
DHDPS	7	304	1.29e-72	SMART

Meta Mutation Damage Score

0.5299

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

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 N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,883,939 (GRCm39)	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,217,038 (GRCm39)	R246G	probably benign	Het
Aak1	T	C	6: 86,921,462 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,412 (GRCm39)	L695P	probably damaging	Het
Alcam	T	A	16: 52,109,290 (GRCm39)	T328S	probably damaging	Het
Alpk1	A	G	3: 127,478,969 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,970,889 (GRCm39)	L642P	probably damaging	Het
Atrip	T	C	9: 108,888,964 (GRCm39)	D741G	probably damaging	Het
Bmp1	T	C	14: 70,723,659 (GRCm39)	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,496,337 (GRCm39)		probably null	Het
Cacng5	C	G	11: 107,768,215 (GRCm39)	C264S	possibly damaging	Het
Calr4	T	A	4: 109,101,859 (GRCm39)		probably benign	Het
Cdhr1	T	A	14: 36,811,422 (GRCm39)	T230S	probably benign	Het
Cdk16	T	C	X: 20,562,566 (GRCm39)		probably benign	Het
Cenpj	T	C	14: 56,791,148 (GRCm39)	E337G	probably damaging	Het
Chd9	A	G	8: 91,704,147 (GRCm39)	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,312,607 (GRCm39)	V360D	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cyp20a1	A	T	1: 60,402,509 (GRCm39)	H198L	probably damaging	Het
Dnai1	T	A	4: 41,597,630 (GRCm39)	S38T	probably benign	Het
Dnai1	T	G	4: 41,632,251 (GRCm39)	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357 (GRCm39)	T188K	probably damaging	Het
Ergic2	A	G	6: 148,084,621 (GRCm39)	V304A	probably damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbxo7	A	G	10: 85,857,784 (GRCm39)		probably benign	Het
Gins4	T	C	8: 23,727,084 (GRCm39)	E3G	possibly damaging	Het
Glis3	G	A	19: 28,508,979 (GRCm39)	P335L	probably benign	Het
Golph3l	A	T	3: 95,524,501 (GRCm39)	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,722,181 (GRCm39)	A445V	probably benign	Het
Hykk	A	G	9: 54,853,763 (GRCm39)	I362V	probably benign	Het
Il6st	G	A	13: 112,627,089 (GRCm39)	V294M	probably damaging	Het
Itpr1	A	G	6: 108,366,348 (GRCm39)	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,252,936 (GRCm39)	L501P	probably benign	Het
Mpi	G	A	9: 57,457,887 (GRCm39)	T105M	probably damaging	Het
Mrpl37	A	T	4: 106,921,919 (GRCm39)	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,350,056 (GRCm39)	T600S	possibly damaging	Het
Or10j27	C	T	1: 172,958,606 (GRCm39)	M59I	probably damaging	Het
Or7g30	A	G	9: 19,353,067 (GRCm39)	N286S	probably damaging	Het
Pkd1	A	G	17: 24,809,812 (GRCm39)	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,080,095 (GRCm39)	N235D	probably benign	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Rcvrn	A	T	11: 67,586,340 (GRCm39)	Q33L	probably benign	Het
Rif1	A	T	2: 51,982,307 (GRCm39)	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,771,790 (GRCm39)	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,727,129 (GRCm39)	G2411*	probably null	Het
Scn3a	A	T	2: 65,302,643 (GRCm39)	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,382,196 (GRCm39)	I784F	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Skint7	T	C	4: 111,837,627 (GRCm39)	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,738,343 (GRCm39)	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,848,966 (GRCm39)		probably null	Het
Spata7	A	T	12: 98,635,761 (GRCm39)	D527V	probably benign	Het
Srcap	A	G	7: 127,140,833 (GRCm39)	T1477A	probably benign	Het
Srl	C	A	16: 4,300,633 (GRCm39)	D375Y	probably damaging	Het
Stk4	A	T	2: 163,925,608 (GRCm39)	K58*	probably null	Het
Svep1	T	G	4: 58,120,648 (GRCm39)	H795P	possibly damaging	Het
Trak2	T	A	1: 58,974,967 (GRCm39)	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,933,904 (GRCm39)	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,283,473 (GRCm39)	L52*	probably null	Het
Vmn2r108	A	T	17: 20,690,454 (GRCm39)	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,168,601 (GRCm39)	D55G	possibly damaging	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Zfp13	C	A	17: 23,796,035 (GRCm39)	E179*	probably null	Het
Zfp839	T	C	12: 110,834,610 (GRCm39)	S546P	probably damaging	Het

Other mutations in Npl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02511:Npl	APN	1	153,391,227 (GRCm39)	missense	probably damaging	0.99
R0131:Npl	UTSW	1	153,384,864 (GRCm39)	nonsense	probably null
R0131:Npl	UTSW	1	153,384,864 (GRCm39)	nonsense	probably null
R0132:Npl	UTSW	1	153,384,864 (GRCm39)	nonsense	probably null
R0479:Npl	UTSW	1	153,391,155 (GRCm39)	missense	probably damaging	0.98
R2369:Npl	UTSW	1	153,394,623 (GRCm39)	splice site	probably null
R3723:Npl	UTSW	1	153,391,210 (GRCm39)	missense	probably benign	0.22
R4655:Npl	UTSW	1	153,391,152 (GRCm39)	missense	probably damaging	1.00
R5818:Npl	UTSW	1	153,411,661 (GRCm39)	missense	probably damaging	1.00
R5837:Npl	UTSW	1	153,379,271 (GRCm39)	missense	probably benign	0.00
R6010:Npl	UTSW	1	153,388,314 (GRCm39)	nonsense	probably null
R6301:Npl	UTSW	1	153,394,627 (GRCm39)	critical splice donor site	probably null
R7418:Npl	UTSW	1	153,413,257 (GRCm39)	splice site	probably null
R7990:Npl	UTSW	1	153,413,230 (GRCm39)	missense	possibly damaging	0.94
R8004:Npl	UTSW	1	153,379,286 (GRCm39)	missense	probably benign	0.18
R9683:Npl	UTSW	1	153,421,030 (GRCm39)	missense	possibly damaging	0.55
X0065:Npl	UTSW	1	153,413,218 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTCTTGCTGTGTGACTCCTG -3'
(R):5'- TTGCACACCTGGAGATCAG -3'

Sequencing Primer
(F):5'- GTGTGACTCCTGTGACCCAC -3'
(R):5'- TGTCCTAGCCTGAGCAGACTG -3'

Posted On

2016-06-06