Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00857:Enpp2'

10479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enpp2

Ensembl Gene

ENSMUSG00000022425

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 2

Synonyms

Pdnp2, PD-Ialpha, Autotaxin, Npps2, ATX

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00857

Quality Score

Status

Chromosome

Chromosomal Location

54702297-54816284 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 54739046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133877 (fasta)

Gene Model

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

AlphaFold

Q9R1E6

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000167541

SMART Domains

Protein: ENSMUSP00000132640
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	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 null
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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227483

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	A	G	15: 89,454,205 (GRCm39)	T181A	probably benign	Het
Anks3	T	A	16: 4,771,793 (GRCm39)	H77L	possibly damaging	Het
Cacna1d	A	T	14: 30,072,638 (GRCm39)	N112K	possibly damaging	Het
Cd164	A	G	10: 41,404,691 (GRCm39)	T150A	probably benign	Het
Cfap57	C	T	4: 118,470,120 (GRCm39)		probably null	Het
Cntnap2	C	A	6: 47,026,358 (GRCm39)	N61K	probably benign	Het
Cstdc1	A	G	2: 148,624,170 (GRCm39)	D48G	possibly damaging	Het
Cyp4f39	A	G	17: 32,708,631 (GRCm39)	I393V	probably benign	Het
Dcaf11	A	T	14: 55,798,742 (GRCm39)		probably benign	Het
Defb7	G	A	8: 19,547,594 (GRCm39)	R33Q	possibly damaging	Het
Dmxl2	T	C	9: 54,283,604 (GRCm39)	Y2743C	probably benign	Het
Fam135b	T	A	15: 71,335,465 (GRCm39)	E576D	probably benign	Het
Gfpt1	T	A	6: 87,033,145 (GRCm39)	N123K	probably damaging	Het
Hnmt	T	C	2: 23,893,795 (GRCm39)	D233G	probably benign	Het
Hsd3b2	T	A	3: 98,618,859 (GRCm39)	E362V	possibly damaging	Het
Hsdl2	T	A	4: 59,617,735 (GRCm39)	N487K	probably benign	Het
Hspa14	T	C	2: 3,503,796 (GRCm39)	Y83C	probably damaging	Het
Itm2b	T	C	14: 73,602,056 (GRCm39)	N214S	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Myocd	A	T	11: 65,069,662 (GRCm39)	V726D	possibly damaging	Het
Ncapg	T	A	5: 45,833,927 (GRCm39)		probably null	Het
Nrdc	A	T	4: 108,911,199 (GRCm39)	I774F	probably damaging	Het
Pot1a	T	C	6: 25,744,627 (GRCm39)	I626V	probably benign	Het
Prkab2	C	T	3: 97,569,659 (GRCm39)	A75V	possibly damaging	Het
Sdr9c7	A	G	10: 127,734,728 (GRCm39)	Q72R	probably benign	Het
Slc16a7	A	C	10: 125,066,803 (GRCm39)	Y279D	probably benign	Het
Slc8a1	T	A	17: 81,955,308 (GRCm39)	T577S	probably benign	Het
Slitrk3	G	A	3: 72,957,174 (GRCm39)	L533F	probably damaging	Het
Tent5a	C	A	9: 85,206,806 (GRCm39)	V331L	possibly damaging	Het
Tmeff1	T	C	4: 48,610,435 (GRCm39)	V102A	probably damaging	Het
Ttn	G	A	2: 76,583,099 (GRCm39)	T22598I	probably damaging	Het
Ube4a	C	A	9: 44,843,684 (GRCm39)	G977W	probably damaging	Het

Other mutations in Enpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Enpp2	APN	15	54,782,998 (GRCm39)	missense	possibly damaging	0.79
IGL01296:Enpp2	APN	15	54,739,065 (GRCm39)	missense	probably damaging	1.00
IGL01650:Enpp2	APN	15	54,783,329 (GRCm39)	missense	probably benign
IGL02470:Enpp2	APN	15	54,702,856 (GRCm39)	missense	probably damaging	1.00
IGL02522:Enpp2	APN	15	54,762,336 (GRCm39)	missense	probably damaging	0.99
IGL02727:Enpp2	APN	15	54,773,577 (GRCm39)	missense	probably damaging	1.00
IGL03178:Enpp2	APN	15	54,729,402 (GRCm39)	missense	probably benign
G1Funyon:Enpp2	UTSW	15	54,714,803 (GRCm39)	missense	probably benign
IGL03055:Enpp2	UTSW	15	54,729,481 (GRCm39)	splice site	probably null
PIT4260001:Enpp2	UTSW	15	54,707,774 (GRCm39)	critical splice donor site	probably null
R0302:Enpp2	UTSW	15	54,723,457 (GRCm39)	missense	probably benign	0.15
R0304:Enpp2	UTSW	15	54,741,202 (GRCm39)	missense	probably benign	0.07
R0385:Enpp2	UTSW	15	54,745,555 (GRCm39)	missense	probably damaging	1.00
R0440:Enpp2	UTSW	15	54,710,633 (GRCm39)	splice site	probably benign
R0696:Enpp2	UTSW	15	54,761,092 (GRCm39)	nonsense	probably null
R0879:Enpp2	UTSW	15	54,741,326 (GRCm39)	missense	probably damaging	0.98
R0924:Enpp2	UTSW	15	54,770,355 (GRCm39)	splice site	probably benign
R0989:Enpp2	UTSW	15	54,739,155 (GRCm39)	missense	possibly damaging	0.88
R1126:Enpp2	UTSW	15	54,770,222 (GRCm39)	critical splice donor site	probably null
R1434:Enpp2	UTSW	15	54,726,077 (GRCm39)	missense	probably damaging	1.00
R1447:Enpp2	UTSW	15	54,782,994 (GRCm39)	critical splice donor site	probably null
R1464:Enpp2	UTSW	15	54,727,208 (GRCm39)	missense	probably damaging	1.00
R1464:Enpp2	UTSW	15	54,727,208 (GRCm39)	missense	probably damaging	1.00
R1501:Enpp2	UTSW	15	54,702,910 (GRCm39)	missense	probably damaging	1.00
R1546:Enpp2	UTSW	15	54,709,225 (GRCm39)	missense	probably benign	0.01
R1673:Enpp2	UTSW	15	54,773,592 (GRCm39)	splice site	probably null
R1853:Enpp2	UTSW	15	54,709,219 (GRCm39)	missense	probably damaging	1.00
R1854:Enpp2	UTSW	15	54,709,219 (GRCm39)	missense	probably damaging	1.00
R1855:Enpp2	UTSW	15	54,709,219 (GRCm39)	missense	probably damaging	1.00
R1969:Enpp2	UTSW	15	54,746,378 (GRCm39)	missense	probably damaging	1.00
R1970:Enpp2	UTSW	15	54,746,378 (GRCm39)	missense	probably damaging	1.00
R2060:Enpp2	UTSW	15	54,739,110 (GRCm39)	missense	probably damaging	1.00
R2122:Enpp2	UTSW	15	54,761,188 (GRCm39)	nonsense	probably null
R2275:Enpp2	UTSW	15	54,761,190 (GRCm39)	missense	probably damaging	1.00
R2517:Enpp2	UTSW	15	54,783,090 (GRCm39)	missense	probably damaging	0.99
R3881:Enpp2	UTSW	15	54,783,088 (GRCm39)	missense	probably damaging	1.00
R3934:Enpp2	UTSW	15	54,709,317 (GRCm39)	missense	probably benign	0.03
R4722:Enpp2	UTSW	15	54,750,985 (GRCm39)	missense	probably damaging	0.99
R4765:Enpp2	UTSW	15	54,739,068 (GRCm39)	missense	possibly damaging	0.91
R4799:Enpp2	UTSW	15	54,773,490 (GRCm39)	missense	probably damaging	1.00
R4934:Enpp2	UTSW	15	54,745,543 (GRCm39)	missense	probably damaging	1.00
R4976:Enpp2	UTSW	15	54,733,701 (GRCm39)	nonsense	probably null
R5068:Enpp2	UTSW	15	54,727,450 (GRCm39)	missense	probably damaging	1.00
R5069:Enpp2	UTSW	15	54,727,450 (GRCm39)	missense	probably damaging	1.00
R5070:Enpp2	UTSW	15	54,727,450 (GRCm39)	missense	probably damaging	1.00
R5119:Enpp2	UTSW	15	54,733,701 (GRCm39)	nonsense	probably null
R5134:Enpp2	UTSW	15	54,762,726 (GRCm39)	missense	probably damaging	1.00
R5162:Enpp2	UTSW	15	54,710,692 (GRCm39)	missense	probably benign	0.06
R5218:Enpp2	UTSW	15	54,750,982 (GRCm39)	missense	possibly damaging	0.86
R5415:Enpp2	UTSW	15	54,745,552 (GRCm39)	missense	probably damaging	1.00
R5965:Enpp2	UTSW	15	54,746,367 (GRCm39)	critical splice donor site	probably null
R6086:Enpp2	UTSW	15	54,709,230 (GRCm39)	missense	probably damaging	1.00
R6229:Enpp2	UTSW	15	54,741,228 (GRCm39)	missense	probably damaging	1.00
R6306:Enpp2	UTSW	15	54,762,742 (GRCm39)	missense	probably damaging	1.00
R6314:Enpp2	UTSW	15	54,729,366 (GRCm39)	missense	probably damaging	0.99
R6403:Enpp2	UTSW	15	54,727,160 (GRCm39)	missense	probably damaging	1.00
R6515:Enpp2	UTSW	15	54,723,489 (GRCm39)	missense	possibly damaging	0.75
R6525:Enpp2	UTSW	15	54,733,607 (GRCm39)	missense	probably benign	0.01
R6536:Enpp2	UTSW	15	54,726,027 (GRCm39)	missense	probably damaging	1.00
R7070:Enpp2	UTSW	15	54,762,685 (GRCm39)	missense	probably damaging	1.00
R7077:Enpp2	UTSW	15	54,764,787 (GRCm39)	missense	probably benign	0.36
R7265:Enpp2	UTSW	15	54,773,429 (GRCm39)	critical splice donor site	probably null
R7324:Enpp2	UTSW	15	54,741,170 (GRCm39)	critical splice donor site	probably null
R7331:Enpp2	UTSW	15	54,739,066 (GRCm39)	missense	probably damaging	1.00
R7452:Enpp2	UTSW	15	54,730,132 (GRCm39)	missense	probably damaging	0.99
R7494:Enpp2	UTSW	15	54,773,554 (GRCm39)	missense	probably damaging	1.00
R7557:Enpp2	UTSW	15	54,773,536 (GRCm39)	missense	probably damaging	1.00
R7574:Enpp2	UTSW	15	54,714,813 (GRCm39)	missense	probably benign
R7665:Enpp2	UTSW	15	54,702,790 (GRCm39)	missense	probably damaging	0.98
R7744:Enpp2	UTSW	15	54,764,629 (GRCm39)	splice site	probably null
R7940:Enpp2	UTSW	15	54,770,324 (GRCm39)	missense	probably damaging	1.00
R7942:Enpp2	UTSW	15	54,709,275 (GRCm39)	missense	probably damaging	1.00
R7951:Enpp2	UTSW	15	54,783,089 (GRCm39)	missense	probably benign	0.00
R8069:Enpp2	UTSW	15	54,710,697 (GRCm39)	missense	probably damaging	0.96
R8301:Enpp2	UTSW	15	54,714,803 (GRCm39)	missense	probably benign
R8376:Enpp2	UTSW	15	54,773,491 (GRCm39)	missense	probably damaging	1.00
R8916:Enpp2	UTSW	15	54,733,722 (GRCm39)	missense	possibly damaging	0.75
R9275:Enpp2	UTSW	15	54,713,484 (GRCm39)	missense	probably benign	0.21
R9304:Enpp2	UTSW	15	54,815,969 (GRCm39)	missense	probably damaging	1.00
R9377:Enpp2	UTSW	15	54,739,080 (GRCm39)	missense	probably damaging	1.00
R9674:Enpp2	UTSW	15	54,816,135 (GRCm39)	missense	unknown

Posted On

2012-12-06