Mutagenetix > Incidental Mutation

Incidental Mutation 'R9447:Enpp6'

714000

Institutional Source

Beutler Lab

Gene Symbol

Enpp6

Ensembl Gene

ENSMUSG00000038173

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 6

Synonyms

B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R9447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47439922-47549797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47483600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 131 (R131W)

Ref Sequence

ENSEMBL: ENSMUSP00000044608 (fasta)

Gene Model

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

AlphaFold

Q8BGN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000039840
AA Change: R131W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: R131W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119686
AA Change: R131W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: R131W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123066
AA Change: R131W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,651,051 (GRCm39)	Y58N	probably damaging	Het
Ago4	G	A	4: 126,402,151 (GRCm39)	P572S	probably benign	Het
Akr1c19	A	G	13: 4,296,838 (GRCm39)	I295V	probably benign	Het
Cadps2	A	T	6: 23,323,297 (GRCm39)	I1007K	probably damaging	Het
Cd47	C	A	16: 49,715,822 (GRCm39)	T196K		Het
Cdrt4	T	G	11: 62,883,418 (GRCm39)	L40R	probably damaging	Het
Cox16	A	T	12: 81,406,109 (GRCm39)	C72S	probably benign	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Daxx	A	T	17: 34,132,247 (GRCm39)	D497V	unknown	Het
Ddt	A	G	10: 75,608,671 (GRCm39)	V62A	possibly damaging	Het
Dhx57	A	G	17: 80,549,523 (GRCm39)	V1294A	probably damaging	Het
Dnaaf5	A	G	5: 139,163,743 (GRCm39)	T667A	probably damaging	Het
Dnase2a	A	C	8: 85,635,786 (GRCm39)	S90R	probably damaging	Het
Dytn	A	G	1: 63,700,302 (GRCm39)	V276A		Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Epm2a	C	T	10: 11,324,432 (GRCm39)	H174Y	possibly damaging	Het
Fcho1	A	G	8: 72,169,913 (GRCm39)	L70P	probably damaging	Het
Fhip1b	G	T	7: 105,034,155 (GRCm39)	T492K	probably benign	Het
Fstl4	G	T	11: 53,077,166 (GRCm39)	C641F	probably damaging	Het
Ganab	C	T	19: 8,886,894 (GRCm39)	H327Y	probably damaging	Het
Gkn1	A	G	6: 87,323,322 (GRCm39)	Y164H	probably benign	Het
Gm57858	A	G	3: 36,074,195 (GRCm39)	V318A	possibly damaging	Het
Hpf1	A	G	8: 61,348,618 (GRCm39)	D111G	probably damaging	Het
Hs3st2	C	T	7: 120,992,289 (GRCm39)	R113W	probably damaging	Het
Ighm	A	T	12: 113,384,794 (GRCm39)	L353Q		Het
Krbox5	A	G	13: 67,981,953 (GRCm39)	E55G	probably damaging	Het
Ksr1	T	C	11: 78,909,159 (GRCm39)	D782G	unknown	Het
Lpin2	A	G	17: 71,539,087 (GRCm39)	K392E	unknown	Het
Lrrc4	A	G	6: 28,830,650 (GRCm39)	S322P	probably benign	Het
Man2a1	T	C	17: 64,966,001 (GRCm39)	V313A	possibly damaging	Het
Mctp1	A	G	13: 76,727,904 (GRCm39)	S9G	probably benign	Het
Morn5	A	T	2: 35,969,525 (GRCm39)		probably null	Het
Mroh2b	C	T	15: 4,960,823 (GRCm39)	A795V	probably damaging	Het
Ncf4	G	T	15: 78,146,499 (GRCm39)	A310S	probably benign	Het
Nedd4	T	C	9: 72,577,381 (GRCm39)	Y69H	probably benign	Het
Nras	T	C	3: 102,967,673 (GRCm39)	F90L	possibly damaging	Het
Nrxn3	T	C	12: 89,221,678 (GRCm39)	F113L	probably benign	Het
Ntsr1	C	T	2: 180,180,540 (GRCm39)	T282I	probably benign	Het
Or1e1d-ps1	G	T	11: 73,819,617 (GRCm39)	C189F	probably benign	Het
Osbpl3	T	A	6: 50,321,857 (GRCm39)	K310*	probably null	Het
Pcca	T	C	14: 122,854,290 (GRCm39)	V194A	probably damaging	Het
Plekha5	A	G	6: 140,525,192 (GRCm39)	Y900C	probably damaging	Het
Prss22	T	C	17: 24,212,837 (GRCm39)	D300G	probably benign	Het
Rad17	A	T	13: 100,764,119 (GRCm39)	Y451N	probably damaging	Het
Rnf181	G	T	6: 72,337,570 (GRCm39)	T97K	probably damaging	Het
Sec24d	T	C	3: 123,084,162 (GRCm39)	S114P	probably benign	Het
Siae	C	A	9: 37,557,743 (GRCm39)	Q517K	probably benign	Het
Smurf2	A	T	11: 106,715,548 (GRCm39)	V653D	probably damaging	Het
Sqor	C	A	2: 122,649,520 (GRCm39)	T359K	possibly damaging	Het
Taf6	A	T	5: 138,176,970 (GRCm39)	*637R	probably null	Het
Tas2r109	A	C	6: 132,957,270 (GRCm39)	M220R	probably damaging	Het
Tlr2	T	A	3: 83,748,445 (GRCm39)		probably null	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem8b	T	G	4: 43,685,766 (GRCm39)	L179R	probably damaging	Het
Tnfrsf10b	T	A	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Trip11	T	A	12: 101,850,148 (GRCm39)	K1305N	probably damaging	Het
Ttn	C	A	2: 76,582,862 (GRCm39)	W22677L	probably damaging	Het
Ube2r2	T	C	4: 41,190,655 (GRCm39)	V183A	probably damaging	Het
Ubqln4	T	A	3: 88,464,124 (GRCm39)	D208E	probably benign	Het
Ugt2a3	T	A	5: 87,473,330 (GRCm39)	N529I	probably benign	Het
Vmn1r125	A	G	7: 21,006,627 (GRCm39)	N175S	probably benign	Het
Xirp2	T	A	2: 67,338,950 (GRCm39)	I397K	probably damaging	Het
Zfp821	G	A	8: 110,450,816 (GRCm39)	V270I	probably damaging	Het
Zfp935	A	G	13: 62,602,842 (GRCm39)	V99A	possibly 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
R5322:Enpp6	UTSW	8	47,521,950 (GRCm39)	missense	probably benign	0.06
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
R9710:Enpp6	UTSW	8	47,518,948 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTAAACGAGCACGAGACG -3'
(R):5'- CTTTCATATCATTGGTAGGAAAGCG -3'

Sequencing Primer
(F):5'- ACGAGACGCTTTGGCAATC -3'
(R):5'- CATATCATTGGTAGGAAAGCGAATGC -3'

Posted On

2022-06-15