Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Enpp6'

221238

Institutional Source

Beutler Lab

Gene Symbol

Enpp6

Ensembl Gene

ENSMUSG00000038173

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 6

Synonyms

B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6

MMRRC Submission

040038-MU

Accession Numbers

Essential gene?

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

Stock #

R2031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47439922-47549797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47506649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 151 (P151Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147811 (fasta)

Gene Model

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

AlphaFold

Q8BGN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039840
AA Change: P151Q

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: P151Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119686
AA Change: P151Q

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: P151Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123066
AA Change: P151Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

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
Adam1b	G	T	5: 121,639,118 (GRCm39)	N642K	possibly damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Aoc1l1	T	C	6: 48,952,789 (GRCm39)	V238A	probably damaging	Het
Arhgap28	G	T	17: 68,203,111 (GRCm39)	T114N	probably damaging	Het
Arid5b	A	G	10: 68,114,518 (GRCm39)		probably null	Het
Atp10a	T	A	7: 58,477,678 (GRCm39)	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401 (GRCm39)	S51G	probably benign	Het
Cast	T	C	13: 74,946,771 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,715 (GRCm39)	F736L	probably damaging	Het
Cdon	T	C	9: 35,415,370 (GRCm39)	S1203P	probably damaging	Het
Cep290	G	A	10: 100,348,262 (GRCm39)		probably null	Het
Cep85	A	G	4: 133,859,761 (GRCm39)	V634A	probably benign	Het
Cpeb3	C	T	19: 37,022,079 (GRCm39)	R589H	probably damaging	Het
Crebrf	T	G	17: 26,961,895 (GRCm39)	S331A	probably damaging	Het
Cul5	A	G	9: 53,578,480 (GRCm39)	V36A	probably benign	Het
Dock2	T	A	11: 34,618,297 (GRCm39)		probably benign	Het
Dstyk	G	A	1: 132,380,929 (GRCm39)	A475T	probably damaging	Het
Fan1	A	G	7: 64,004,172 (GRCm39)	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,675,476 (GRCm39)	S354T	probably benign	Het
Ifi204	A	C	1: 173,580,343 (GRCm39)	F389C	probably damaging	Het
Ikbip	T	C	10: 90,932,474 (GRCm39)	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,078,021 (GRCm39)	P207T	possibly damaging	Het
Krt73	A	C	15: 101,707,199 (GRCm39)		probably benign	Het
Mfsd6	T	A	1: 52,748,013 (GRCm39)	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607 (GRCm39)	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,326,584 (GRCm39)	T1161S	probably damaging	Het
Ms4a18	A	G	19: 10,991,014 (GRCm39)	S27P	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,426,028 (GRCm39)	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,537,937 (GRCm39)	L172P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or1d2	A	G	11: 74,255,777 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	A	G	7: 106,341,105 (GRCm39)	F12S	probably damaging	Het
Or4c107	A	G	2: 88,789,643 (GRCm39)	T278A	probably benign	Het
Or51f1e	A	G	7: 102,747,371 (GRCm39)	Y141C	probably damaging	Het
Or5an10	A	T	19: 12,275,740 (GRCm39)	V252D	probably damaging	Het
Or5b112	T	C	19: 13,319,770 (GRCm39)	L216S	probably benign	Het
Parvb	A	T	15: 84,167,036 (GRCm39)	Y117F	probably benign	Het
Plch2	A	G	4: 155,127,484 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,047,013 (GRCm39)	C769*	probably null	Het
Plxnc1	G	T	10: 94,779,529 (GRCm39)	D304E	probably benign	Het
Prkg2	T	C	5: 99,172,310 (GRCm39)	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,153,448 (GRCm39)	D635G	probably benign	Het
Rapgef6	T	G	11: 54,443,684 (GRCm39)	V89G	probably benign	Het
Ror2	T	A	13: 53,271,366 (GRCm39)	T330S	probably benign	Het
Ros1	A	G	10: 51,943,164 (GRCm39)	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 34,021,733 (GRCm39)		probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Smarca4	T	C	9: 21,597,358 (GRCm39)	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,100,560 (GRCm39)	R317H	probably damaging	Het
Tdo2	T	A	3: 81,876,812 (GRCm39)	D139V	probably damaging	Het
Tmem130	A	G	5: 144,689,236 (GRCm39)	V135A	possibly damaging	Het
Tpr	A	T	1: 150,317,870 (GRCm39)	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,706,062 (GRCm39)	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,448,574 (GRCm39)	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,659,717 (GRCm39)	W154R	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
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
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'- ACTCCAGTATTACCTTGGAATGG -3'
(R):5'- AAGGATGCTTGCTGGGAGAC -3'

Sequencing Primer
(F):5'- CCTTGGAATGGCATTTAAGACAC -3'
(R):5'- GTCTGTGGCTACATAGGACCTAAC -3'

Posted On

2014-08-25