Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Enpp2'

102793

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 #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

54702297-54816284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54783329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 10 (Y10F)

Ref Sequence

ENSEMBL: ENSMUSP00000133877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041591] [ENSMUST00000167541] [ENSMUST00000171545] [ENSMUST00000173516] [ENSMUST00000226339] [ENSMUST00000228222]

AlphaFold

Q9R1E6

Predicted Effect

probably benign
Transcript: ENSMUST00000041591
AA Change: Y10F

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

SMART Domains

Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: Y10F

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: Y10F

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

SMART Domains

Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: Y10F

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
AA Change: Y10F

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

SMART Domains

Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: Y10F

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
AA Change: Y10F

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

SMART Domains

Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: Y10F

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

probably benign
Transcript: ENSMUST00000226339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227483

Predicted Effect

probably benign
Transcript: ENSMUST00000228222

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,070,067 (GRCm39)	D281G	probably damaging	Het
Arhgap28	T	C	17: 68,180,127 (GRCm39)	E236G	probably damaging	Het
Bltp1	G	A	3: 37,046,822 (GRCm39)		probably benign	Het
Btbd3	A	T	2: 138,126,025 (GRCm39)	D334V	probably damaging	Het
Cabp4	T	C	19: 4,189,323 (GRCm39)	E78G	probably benign	Het
Clcn4	T	C	7: 7,287,280 (GRCm39)		probably benign	Het
Col14a1	A	G	15: 55,270,089 (GRCm39)	Y600C	unknown	Het
Cpne4	A	G	9: 104,778,710 (GRCm39)	D167G	probably damaging	Het
Eif3a	T	A	19: 60,762,434 (GRCm39)	I450F	probably damaging	Het
Fam227a	A	T	15: 79,518,274 (GRCm39)	H339Q	possibly damaging	Het
Far2	C	A	6: 148,074,985 (GRCm39)	T406K	possibly damaging	Het
Fmo1	A	G	1: 162,661,153 (GRCm39)	S377P	probably benign	Het
Fsip2	G	A	2: 82,821,430 (GRCm39)	S5721N	probably benign	Het
Gatb	T	C	3: 85,520,791 (GRCm39)	I300T	possibly damaging	Het
Gpam	T	C	19: 55,070,132 (GRCm39)	N375D	probably benign	Het
Gsdma	G	T	11: 98,564,513 (GRCm39)	D331Y	probably damaging	Het
Kif13b	T	C	14: 65,002,594 (GRCm39)	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 39,879,115 (GRCm39)	M261L	probably benign	Het
Nav1	A	T	1: 135,382,498 (GRCm39)	D1321E	probably damaging	Het
Or4f59	A	G	2: 111,872,720 (GRCm39)	I219T	possibly damaging	Het
Or52j3	A	G	7: 102,836,286 (GRCm39)	I159M	probably benign	Het
Or6c69	A	G	10: 129,747,550 (GRCm39)	V199A	probably benign	Het
Or6c76b	T	A	10: 129,692,936 (GRCm39)	L183Q	probably damaging	Het
Or8g32	G	T	9: 39,305,252 (GRCm39)	S55I	probably damaging	Het
Ppp1r10	G	T	17: 36,242,053 (GRCm39)	R857L	unknown	Het
Prune2	T	A	19: 17,145,656 (GRCm39)	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,052,400 (GRCm39)	I859T	probably benign	Het
Ros1	T	C	10: 52,031,075 (GRCm39)	D510G	probably damaging	Het
Sema3g	C	A	14: 30,943,744 (GRCm39)	P208H	probably benign	Het
Smcr8	T	C	11: 60,669,010 (GRCm39)	F53L	probably damaging	Het
Tnfsf13b	A	T	8: 10,081,411 (GRCm39)	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,679,024 (GRCm39)	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,383,103 (GRCm39)		probably null	Het
Zkscan7	A	G	9: 122,723,892 (GRCm39)	D287G	probably benign	Het

Other mutations in Enpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Enpp2	APN	15	54,739,046 (GRCm39)	critical splice donor site	probably null
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
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

2014-01-21