Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Enpp6'

404908

Institutional Source

Beutler Lab

Gene Symbol

Enpp6

Ensembl Gene

ENSMUSG00000038173

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 6

Synonyms

B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6

MMRRC Submission

042905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47439922-47549797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47521950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 295 (H295N)

Ref Sequence

ENSEMBL: ENSMUSP00000112633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039840] [ENSMUST00000119686] [ENSMUST00000123066]

AlphaFold

Q8BGN3

Predicted Effect

probably benign
Transcript: ENSMUST00000039840
AA Change: H295N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: H295N

Domain	Start	End	E-Value	Type
Pfam:Phosphodiest	26	357	1.3e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119686
AA Change: H295N

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: H295N

Domain	Start	End	E-Value	Type
Pfam:Phosphodiest	26	357	1.1e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123066

Predicted Effect

probably benign
Transcript: ENSMUST00000149593

SMART Domains

Protein: ENSMUSP00000121470
Gene: ENSMUSG00000038173

Domain	Start	End	E-Value	Type
PDB:4LR2\|A	2	74	2e-10	PDB

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the nucleotide pyrophosphatase/phosphodiesterase family of enzymes that play an important role in regulating extracellular nucleotide metabolism. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol (GPI)-anchored membrane protein that hydrolyzes choline-containing lysophospholipids such as glycerophosphocholine. Mice lacking the encoded protein develop fatty liver and myelin sheath abnormalities. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	T	5: 89,855,159 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,729,545 (GRCm39)		probably null	Het
Ankrd60	T	A	2: 173,410,610 (GRCm39)	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,086,890 (GRCm39)		probably null	Het
Arvcf	T	C	16: 18,215,508 (GRCm39)	M176T	probably benign	Het
Cachd1	T	C	4: 100,809,319 (GRCm39)	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,204,484 (GRCm39)	S933P	probably damaging	Het
Cfi	C	T	3: 129,666,689 (GRCm39)	P471S	probably damaging	Het
Ckmt2	G	T	13: 92,009,891 (GRCm39)	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,085,078 (GRCm39)	D15E	probably damaging	Het
Copb2	A	T	9: 98,468,029 (GRCm39)	K680N	probably benign	Het
D2hgdh	T	C	1: 93,757,620 (GRCm39)		probably null	Het
Dcn	A	T	10: 97,353,464 (GRCm39)	T338S	probably benign	Het
Dipk2a	A	G	9: 94,402,615 (GRCm39)	I349T	probably benign	Het
Dnah10	G	A	5: 124,850,630 (GRCm39)	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,390 (GRCm39)	I3045V	probably benign	Het
Dock3	G	A	9: 106,779,028 (GRCm39)	T307I	probably benign	Het
Dock5	A	T	14: 68,007,715 (GRCm39)	I1498N	probably benign	Het
Emc1	A	T	4: 139,081,557 (GRCm39)	N62Y	probably damaging	Het
Epha10	A	G	4: 124,779,541 (GRCm39)	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,172,387 (GRCm39)	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fignl1	A	T	11: 11,751,571 (GRCm39)	F495I	probably damaging	Het
Gm43302	C	T	5: 105,365,347 (GRCm39)	A554T	probably benign	Het
Gpr157	A	G	4: 150,183,309 (GRCm39)	N160D	probably benign	Het
Il1rn	G	A	2: 24,238,641 (GRCm39)		probably null	Het
Kctd13	T	A	7: 126,528,378 (GRCm39)	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,516,722 (GRCm39)	F1561L	probably damaging	Het
Mast2	A	G	4: 116,190,608 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,792,975 (GRCm39)	H637R	probably damaging	Het
Moxd1	A	T	10: 24,120,151 (GRCm39)	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,423,119 (GRCm39)		probably null	Het
Myot	T	C	18: 44,487,216 (GRCm39)	F351S	probably benign	Het
N4bp2	T	A	5: 65,947,800 (GRCm39)	N143K	possibly damaging	Het
Or10ac1	T	C	6: 42,515,950 (GRCm39)	D2G	probably benign	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or51b6b	T	C	7: 103,309,879 (GRCm39)	I193V	possibly damaging	Het
Or52a20	T	A	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Or52n2	C	T	7: 104,542,371 (GRCm39)	V155I	probably benign	Het
Or8b3	A	T	9: 38,314,862 (GRCm39)	I228F	probably damaging	Het
Or8b52	T	A	9: 38,576,502 (GRCm39)	I213L	probably benign	Het
Patl1	C	T	19: 11,898,223 (GRCm39)	R134*	probably null	Het
Paxbp1	T	C	16: 90,812,050 (GRCm39)	I887V	probably benign	Het
Pi4kb	G	A	3: 94,901,560 (GRCm39)	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,438,686 (GRCm39)	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,276,322 (GRCm39)		probably null	Het
Rela	T	A	19: 5,695,408 (GRCm39)	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,101,985 (GRCm39)		probably benign	Het
Smco2	T	C	6: 146,772,785 (GRCm39)	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,682,347 (GRCm39)	I77F	possibly damaging	Het
Tex14	A	G	11: 87,402,298 (GRCm39)	I462V	probably benign	Het
Tmem260	C	T	14: 48,724,306 (GRCm39)	R385W	probably damaging	Het
Trrap	T	C	5: 144,781,034 (GRCm39)	V2974A	probably damaging	Het
Usp47	C	T	7: 111,652,476 (GRCm39)	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,616,481 (GRCm39)	N247S	probably benign	Het
Zeb2	A	C	2: 44,887,107 (GRCm39)	M582R	probably damaging	Het

Other mutations in Enpp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Enpp6	APN	8	47,518,967 (GRCm39)	missense	probably damaging	1.00
IGL02882:Enpp6	APN	8	47,483,567 (GRCm39)	missense	probably damaging	1.00
R0025:Enpp6	UTSW	8	47,519,035 (GRCm39)	missense	probably damaging	0.99
R0025:Enpp6	UTSW	8	47,519,035 (GRCm39)	missense	probably damaging	0.99
R0331:Enpp6	UTSW	8	47,535,484 (GRCm39)	missense	probably damaging	1.00
R0525:Enpp6	UTSW	8	47,535,478 (GRCm39)	missense	possibly damaging	0.68
R1168:Enpp6	UTSW	8	47,483,489 (GRCm39)	missense	probably damaging	0.96
R1295:Enpp6	UTSW	8	47,518,535 (GRCm39)	missense	probably benign	0.00
R1533:Enpp6	UTSW	8	47,518,469 (GRCm39)	missense	probably benign	0.02
R1923:Enpp6	UTSW	8	47,535,541 (GRCm39)	missense	probably damaging	0.98
R2031:Enpp6	UTSW	8	47,506,649 (GRCm39)	missense	probably damaging	0.99
R2090:Enpp6	UTSW	8	47,518,405 (GRCm39)	critical splice acceptor site	probably null
R2656:Enpp6	UTSW	8	47,535,453 (GRCm39)	nonsense	probably null
R3620:Enpp6	UTSW	8	47,518,540 (GRCm39)	missense	probably benign	0.03
R3621:Enpp6	UTSW	8	47,518,540 (GRCm39)	missense	probably benign	0.03
R3862:Enpp6	UTSW	8	47,519,027 (GRCm39)	missense	probably benign	0.33
R4284:Enpp6	UTSW	8	47,522,050 (GRCm39)	missense	probably damaging	1.00
R4592:Enpp6	UTSW	8	47,546,067 (GRCm39)	missense	probably damaging	0.99
R4899:Enpp6	UTSW	8	47,440,118 (GRCm39)	missense	probably damaging	1.00
R4963:Enpp6	UTSW	8	47,518,496 (GRCm39)	missense	probably benign	0.30
R5201:Enpp6	UTSW	8	47,518,486 (GRCm39)	missense	probably damaging	0.99
R5933:Enpp6	UTSW	8	47,519,039 (GRCm39)	missense	probably benign	0.22
R8783:Enpp6	UTSW	8	47,440,220 (GRCm39)	missense	possibly damaging	0.47
R9372:Enpp6	UTSW	8	47,506,627 (GRCm39)	missense	possibly damaging	0.91
R9447:Enpp6	UTSW	8	47,483,600 (GRCm39)	missense	probably damaging	0.97
R9710:Enpp6	UTSW	8	47,518,948 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATCTCTCATAGCCAGGTCTC -3'
(R):5'- TCAATGGTCGTTGCCTAGC -3'

Sequencing Primer
(F):5'- TCTGTGAGTTCAAGACCAGC -3'
(R):5'- CGTTGCCTAGCTGTGGG -3'

Posted On

2016-07-22