Mutagenetix > Incidental Mutation

Incidental Mutation 'R9710:Enpp6'

730070

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 #

R9710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47439922-47549797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47518948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 239 (S239T)

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: S239T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: S239T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119686
AA Change: S239T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: S239T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,946,852 (GRCm39)	S250P	probably benign	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Alpk2	T	A	18: 65,482,646 (GRCm39)	E454V	probably damaging	Het
Ank3	A	T	10: 69,829,070 (GRCm39)	T2580S		Het
Anks1	G	A	17: 28,128,571 (GRCm39)	G46R	possibly damaging	Het
Arhgap45	A	G	10: 79,857,635 (GRCm39)	E322G	probably damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
C1qtnf4	T	C	2: 90,720,351 (GRCm39)	I208T	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Cacna1a	G	T	8: 85,320,808 (GRCm39)	V1589F	possibly damaging	Het
Cacnb1	T	C	11: 97,902,197 (GRCm39)	H205R	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
Ccdc9b	G	T	2: 118,591,077 (GRCm39)	A152E	probably benign	Het
Clvs2	C	A	10: 33,389,307 (GRCm39)	R311L	probably benign	Het
Crim1	G	T	17: 78,610,504 (GRCm39)	G320*	probably null	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Cwc27	G	A	13: 104,943,158 (GRCm39)	T128I	probably damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
D930020B18Rik	A	C	10: 121,503,563 (GRCm39)	E246A	probably benign	Het
Dsg1c	T	A	18: 20,410,044 (GRCm39)	V504E	probably benign	Het
Eri2	A	T	7: 119,384,824 (GRCm39)	I559N	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Ghdc	A	G	11: 100,658,863 (GRCm39)	V423A	probably benign	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm266	A	T	12: 111,451,763 (GRCm39)	C148S	probably benign	Het
Gnas	C	T	2: 174,141,132 (GRCm39)	T493M	unknown	Het
Hivep2	T	C	10: 14,015,203 (GRCm39)	I1790T	probably damaging	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Isy1	A	G	6: 87,796,574 (GRCm39)	F239L	possibly damaging	Het
Itgb5	A	G	16: 33,685,917 (GRCm39)	T86A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Krt28	T	C	11: 99,255,921 (GRCm39)	E446G	probably damaging	Het
Lama1	A	T	17: 68,129,404 (GRCm39)	Q3071L		Het
Lasp1	A	G	11: 97,697,593 (GRCm39)		probably benign	Het
Lmf2	T	C	15: 89,237,419 (GRCm39)	K348E	probably benign	Het
Lrch3	G	T	16: 32,796,108 (GRCm39)	E331*	probably null	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map7d1	C	A	4: 126,127,440 (GRCm39)		probably null	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mgrn1	A	T	16: 4,745,740 (GRCm39)	K423*	probably null	Het
Muc20	G	A	16: 32,615,266 (GRCm39)	T37I	possibly damaging	Het
Myh15	A	G	16: 48,959,044 (GRCm39)	E972G	probably damaging	Het
Myocd	T	A	11: 65,087,167 (GRCm39)	K253N	probably damaging	Het
Myod1	T	G	7: 46,026,575 (GRCm39)	L160R	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Nat8f2	A	T	6: 85,844,683 (GRCm39)	Y226*	probably null	Het
Nsmf	A	G	2: 24,949,077 (GRCm39)	K277R	probably null	Het
Nsrp1	C	T	11: 76,967,503 (GRCm39)	G30R	probably damaging	Het
Nsun6	C	A	2: 15,003,009 (GRCm39)	R389L	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or51h1	A	G	7: 102,308,441 (GRCm39)	T138A	probably damaging	Het
Or5w20	G	A	2: 87,726,902 (GRCm39)	D120N	probably damaging	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Polrmt	G	T	10: 79,576,535 (GRCm39)	H474N	probably benign	Het
Ppfia2	A	G	10: 106,664,885 (GRCm39)	I374V	probably benign	Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Prpf4b	T	A	13: 35,083,870 (GRCm39)	Y880N	probably damaging	Het
Ptpn3	G	A	4: 57,249,957 (GRCm39)	Q180*	probably null	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Rnaseh2a	T	C	8: 85,684,638 (GRCm39)	T241A	probably damaging	Het
Rnf148	T	A	6: 23,654,802 (GRCm39)	I65F	possibly damaging	Het
Rnf213	A	G	11: 119,331,831 (GRCm39)	I2348V		Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Ryr3	A	C	2: 112,633,534 (GRCm39)	V2093G	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Sh2d3c	C	T	2: 32,635,889 (GRCm39)	R238*	probably null	Het
Slc23a4	T	C	6: 34,923,235 (GRCm39)	K543R	probably benign	Het
Smn1	A	T	13: 100,272,210 (GRCm39)	N278I	possibly damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Sptlc2	A	T	12: 87,359,533 (GRCm39)	I501N	probably benign	Het
Srf	T	C	17: 46,866,271 (GRCm39)	T162A	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Stim1	CAGCGCCTGACGGAGC	CAGC	7: 102,080,118 (GRCm39)		probably benign	Het
Taar8a	T	C	10: 23,952,714 (GRCm39)	L106P	probably damaging	Het
Tcte1	A	G	17: 45,850,798 (GRCm39)	H358R	possibly damaging	Het
Tmem205	A	G	9: 21,837,587 (GRCm39)	S20P	probably damaging	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Trf	T	A	9: 103,103,217 (GRCm39)	I149F	probably damaging	Het
Trmt2a	C	T	16: 18,070,041 (GRCm39)	Q419*	probably null	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Ubr3	T	C	2: 69,727,957 (GRCm39)	F107L	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Wdr7	T	A	18: 63,927,317 (GRCm39)	M989K	possibly damaging	Het
Zcchc3	A	G	2: 152,256,385 (GRCm39)	S105P	probably benign	Het
Zfp735	T	A	11: 73,601,806 (GRCm39)	V250E	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
R9447:Enpp6	UTSW	8	47,483,600 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAGAACTGCCAGCTTCTTAGG -3'
(R):5'- CCCTTTCCCATGGTTGATGATG -3'

Sequencing Primer
(F):5'- CTGCCAGCTTCTTAGGAATAGAC -3'
(R):5'- CCCATGGTTGATGATGAAAACCCTAG -3'

Posted On

2022-10-06