Mutagenetix > Incidental Mutations

Incidental Mutation 'R8301:Enpp2'

639287

Institutional Source

Beutler Lab

Gene Symbol

Enpp2

Ensembl Gene

ENSMUSG00000022425

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 2

Synonyms

Pdnp2, Npps2, PD-Ialpha, ATX, Autotaxin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54838901-54952892 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54851407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 598 (F598S)

Ref Sequence

ENSEMBL: ENSMUSP00000132640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041591] [ENSMUST00000167541] [ENSMUST00000171545] [ENSMUST00000173516]

AlphaFold

Q9R1E6

Predicted Effect

probably benign
Transcript: ENSMUST00000041591

SMART Domains

Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425

Domain	Start	End	E-Value	Type
SO	54	97	4.79e-16	SMART
SO	98	141	2.95e-16	SMART
Pfam:Phosphodiest	165	285	4.7e-41	PFAM
Pfam:Phosphodiest	278	477	3.3e-40	PFAM
Endonuclease_NS	613	844	3.93e-36	SMART
NUC	614	844	1.32e-109	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167541
AA Change: F598S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: F598S

Domain	Start	End	E-Value	Type
SO	54	97	4.79e-16	SMART
SO	98	141	2.95e-16	SMART
Pfam:Phosphodiest	165	284	5.4e-41	PFAM
Pfam:Phosphodiest	278	477	3.4e-40	PFAM
Endonuclease_NS	638	869	3.93e-36	SMART
NUC	639	869	1.32e-109	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171545

SMART Domains

Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425

Domain	Start	End	E-Value	Type
SO	54	97	4.79e-16	SMART
SO	98	141	2.95e-16	SMART
Pfam:Phosphodiest	165	283	2.8e-43	PFAM
Pfam:Phosphodiest	275	529	2.8e-36	PFAM
Endonuclease_NS	665	896	3.93e-36	SMART
NUC	666	896	1.32e-109	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173516

SMART Domains

Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425

Domain	Start	End	E-Value	Type
SO	54	97	4.79e-16	SMART
SO	98	141	2.95e-16	SMART
Pfam:Phosphodiest	165	285	2.8e-41	PFAM
Pfam:Phosphodiest	276	529	7.8e-36	PFAM
Endonuclease_NS	661	892	3.93e-36	SMART
NUC	662	892	1.32e-109	SMART

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: This gene encodes a member of the phosphodiesterase and nucleotide pyrophosphatase family of bifunctional enzymes that hydrolize phosphodiester bonds of various nucleotides. The encoded protein undergoes proteolytic processing to generate a mature protein with lysophospholipase D activity, catalyzing the cleavage of the choline group from lysophosphatidylcholine to produce lysophosphatidic acid. This gene is expressed in numerous tissues and participates in neural development, obesity, inflammation and oncogenesis. A complete lack of the encoded protein in mice results in aberrant vascular and neuronal development leading to embryonic lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,972,505	I374F	probably benign	Het
9430076C15Rik	A	G	6: 53,681,033	D116G	possibly damaging	Het
Ak9	G	A	10: 41,424,716	V1108I		Het
Aldh16a1	C	T	7: 45,141,982	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580		probably benign	Het
Antxr2	T	G	5: 97,977,679	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441		probably benign	Het
Calm1	A	G	12: 100,205,685	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074	I617T	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111		probably benign	Het
Ebf2	A	G	14: 67,238,982	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909	M136L	probably benign	Het
Extl3	A	C	14: 65,076,284	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545	G265D		Het
Igsf9b	T	G	9: 27,334,739		probably benign	Het
Ints6	A	G	14: 62,702,453	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151		probably null	Het
Kalrn	G	T	16: 34,357,100	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131	N74S	probably benign	Het
Neb	T	C	2: 52,288,835	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185		probably benign	Het
Prl7b1	A	C	13: 27,602,772	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102		probably benign	Het
Psg18	A	T	7: 18,353,377	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742	S1491T		Het
Rsf1	T	C	7: 97,661,925	S621P		Het
Runx1	C	A	16: 92,605,656	*466L	probably null	Het
Samd4	A	G	14: 47,016,678	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519	C241Y	probably benign	Het
Sepn1	T	C	4: 134,551,414		probably benign	Het
Setx	C	T	2: 29,145,690	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879	H481Q	probably damaging	Het

Other mutations in Enpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Enpp2	APN	15	54875650	critical splice donor site	probably null
IGL01290:Enpp2	APN	15	54919602	missense	possibly damaging	0.79
IGL01296:Enpp2	APN	15	54875669	missense	probably damaging	1.00
IGL01650:Enpp2	APN	15	54919933	missense	probably benign
IGL02470:Enpp2	APN	15	54839460	missense	probably damaging	1.00
IGL02522:Enpp2	APN	15	54898940	missense	probably damaging	0.99
IGL02727:Enpp2	APN	15	54910181	missense	probably damaging	1.00
IGL03178:Enpp2	APN	15	54866006	missense	probably benign
G1Funyon:Enpp2	UTSW	15	54851407	missense	probably benign
IGL03055:Enpp2	UTSW	15	54866085	splice site	probably null
PIT4260001:Enpp2	UTSW	15	54844378	critical splice donor site	probably null
R0302:Enpp2	UTSW	15	54860061	missense	probably benign	0.15
R0304:Enpp2	UTSW	15	54877806	missense	probably benign	0.07
R0385:Enpp2	UTSW	15	54882159	missense	probably damaging	1.00
R0440:Enpp2	UTSW	15	54847237	splice site	probably benign
R0696:Enpp2	UTSW	15	54897696	nonsense	probably null
R0879:Enpp2	UTSW	15	54877930	missense	probably damaging	0.98
R0924:Enpp2	UTSW	15	54906959	splice site	probably benign
R0989:Enpp2	UTSW	15	54875759	missense	possibly damaging	0.88
R1126:Enpp2	UTSW	15	54906826	critical splice donor site	probably null
R1434:Enpp2	UTSW	15	54862681	missense	probably damaging	1.00
R1447:Enpp2	UTSW	15	54919598	critical splice donor site	probably null
R1464:Enpp2	UTSW	15	54863812	missense	probably damaging	1.00
R1464:Enpp2	UTSW	15	54863812	missense	probably damaging	1.00
R1501:Enpp2	UTSW	15	54839514	missense	probably damaging	1.00
R1546:Enpp2	UTSW	15	54845829	missense	probably benign	0.01
R1673:Enpp2	UTSW	15	54910196	splice site	probably null
R1853:Enpp2	UTSW	15	54845823	missense	probably damaging	1.00
R1854:Enpp2	UTSW	15	54845823	missense	probably damaging	1.00
R1855:Enpp2	UTSW	15	54845823	missense	probably damaging	1.00
R1969:Enpp2	UTSW	15	54882982	missense	probably damaging	1.00
R1970:Enpp2	UTSW	15	54882982	missense	probably damaging	1.00
R2060:Enpp2	UTSW	15	54875714	missense	probably damaging	1.00
R2122:Enpp2	UTSW	15	54897792	nonsense	probably null
R2275:Enpp2	UTSW	15	54897794	missense	probably damaging	1.00
R2517:Enpp2	UTSW	15	54919694	missense	probably damaging	0.99
R3881:Enpp2	UTSW	15	54919692	missense	probably damaging	1.00
R3934:Enpp2	UTSW	15	54845921	missense	probably benign	0.03
R4722:Enpp2	UTSW	15	54887589	missense	probably damaging	0.99
R4765:Enpp2	UTSW	15	54875672	missense	possibly damaging	0.91
R4799:Enpp2	UTSW	15	54910094	missense	probably damaging	1.00
R4934:Enpp2	UTSW	15	54882147	missense	probably damaging	1.00
R4976:Enpp2	UTSW	15	54870305	nonsense	probably null
R5068:Enpp2	UTSW	15	54864054	missense	probably damaging	1.00
R5069:Enpp2	UTSW	15	54864054	missense	probably damaging	1.00
R5070:Enpp2	UTSW	15	54864054	missense	probably damaging	1.00
R5119:Enpp2	UTSW	15	54870305	nonsense	probably null
R5134:Enpp2	UTSW	15	54899330	missense	probably damaging	1.00
R5162:Enpp2	UTSW	15	54847296	missense	probably benign	0.06
R5218:Enpp2	UTSW	15	54887586	missense	possibly damaging	0.86
R5415:Enpp2	UTSW	15	54882156	missense	probably damaging	1.00
R5965:Enpp2	UTSW	15	54882971	critical splice donor site	probably null
R6086:Enpp2	UTSW	15	54845834	missense	probably damaging	1.00
R6229:Enpp2	UTSW	15	54877832	missense	probably damaging	1.00
R6306:Enpp2	UTSW	15	54899346	missense	probably damaging	1.00
R6314:Enpp2	UTSW	15	54865970	missense	probably damaging	0.99
R6403:Enpp2	UTSW	15	54863764	missense	probably damaging	1.00
R6515:Enpp2	UTSW	15	54860093	missense	possibly damaging	0.75
R6525:Enpp2	UTSW	15	54870211	missense	probably benign	0.01
R6536:Enpp2	UTSW	15	54862631	missense	probably damaging	1.00
R7070:Enpp2	UTSW	15	54899289	missense	probably damaging	1.00
R7077:Enpp2	UTSW	15	54901391	missense	probably benign	0.36
R7265:Enpp2	UTSW	15	54910033	critical splice donor site	probably null
R7324:Enpp2	UTSW	15	54877774	critical splice donor site	probably null
R7331:Enpp2	UTSW	15	54875670	missense	probably damaging	1.00
R7452:Enpp2	UTSW	15	54866736	missense	probably damaging	0.99
R7494:Enpp2	UTSW	15	54910158	missense	probably damaging	1.00
R7557:Enpp2	UTSW	15	54910140	missense	probably damaging	1.00
R7574:Enpp2	UTSW	15	54851417	missense	probably benign
R7665:Enpp2	UTSW	15	54839394	missense	probably damaging	0.98
R7744:Enpp2	UTSW	15	54901233	splice site	probably null
R7940:Enpp2	UTSW	15	54906928	missense	probably damaging	1.00
R7942:Enpp2	UTSW	15	54845879	missense	probably damaging	1.00
R7951:Enpp2	UTSW	15	54919693	missense	probably benign	0.00
R8069:Enpp2	UTSW	15	54847301	missense	probably damaging	0.96
R8376:Enpp2	UTSW	15	54910095	missense	probably damaging	1.00
R8916:Enpp2	UTSW	15	54870326	missense	possibly damaging	0.75
R9275:Enpp2	UTSW	15	54850088	missense	probably benign	0.21
R9304:Enpp2	UTSW	15	54952573	missense	probably damaging	1.00
R9377:Enpp2	UTSW	15	54875684	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCCTAAGAATCAAAATGTGC -3'
(R):5'- ACAGGCTTCAGTATGAGTCTGG -3'

Sequencing Primer
(F):5'- CCTAAGAATCAAAATGTGCCATAATG -3'
(R):5'- CATTATCAACATCCTGGGGAGTG -3'

Posted On

2020-07-28