Mutagenetix > Incidental Mutation

Incidental Mutation 'R6403:Enpp2'

516232

Institutional Source

Beutler Lab

Gene Symbol

Enpp2

Ensembl Gene

ENSMUSG00000022425

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 2

Synonyms

Pdnp2, PD-Ialpha, Autotaxin, Npps2, ATX

MMRRC Submission

044382-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54702297-54816284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54727160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 557 (N557S)

Ref Sequence

ENSEMBL: ENSMUSP00000133877 (fasta)

Gene Model

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

AlphaFold

Q9R1E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041591
AA Change: N505S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: N505S

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 damaging
Transcript: ENSMUST00000167541
AA Change: N505S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: N505S

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 damaging
Transcript: ENSMUST00000171545
AA Change: N557S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: N557S

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 damaging
Transcript: ENSMUST00000173516
AA Change: N557S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: N557S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228823

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Aox1	A	G	1: 58,107,594 (GRCm39)	I623V	probably damaging	Het
Camsap2	G	A	1: 136,208,538 (GRCm39)	R317*	probably null	Het
Carmil1	G	A	13: 24,265,950 (GRCm39)	R271C	probably damaging	Het
Ces2b	T	A	8: 105,562,901 (GRCm39)	L323*	probably null	Het
Copb1	T	A	7: 113,837,686 (GRCm39)	I286F	probably damaging	Het
Dnajb11	T	A	16: 22,689,691 (GRCm39)	V285D	probably damaging	Het
Dok5	G	T	2: 170,671,820 (GRCm39)	A79S	probably damaging	Het
Hexa	G	A	9: 59,464,644 (GRCm39)	R178H	probably damaging	Het
Iars1	T	C	13: 49,840,971 (GRCm39)	S35P	probably damaging	Het
Il3ra	G	T	14: 14,347,137 (GRCm38)	A3S	probably damaging	Het
Iqcm	T	C	8: 76,304,624 (GRCm39)		probably null	Het
Krt9	G	T	11: 100,080,485 (GRCm39)	S420R	probably damaging	Het
Lca5l	T	C	16: 95,975,045 (GRCm39)	N293S	probably benign	Het
Mb21d2	A	G	16: 28,647,269 (GRCm39)	I235T	possibly damaging	Het
Ncbp3	A	G	11: 72,969,802 (GRCm39)	T550A	probably benign	Het
Nckipsd	G	T	9: 108,688,882 (GRCm39)	R139L	possibly damaging	Het
Nxn	A	G	11: 76,289,846 (GRCm39)	V14A	probably benign	Het
Or8d2b	T	C	9: 38,788,538 (GRCm39)	L22P	probably damaging	Het
Pramel22	G	A	4: 143,382,343 (GRCm39)	Q118*	probably null	Het
Rprd2	C	A	3: 95,673,399 (GRCm39)	C668F	possibly damaging	Het
Tmem87a	A	T	2: 120,211,252 (GRCm39)	M231K	possibly damaging	Het
Trappc8	A	G	18: 20,999,128 (GRCm39)	V333A	probably benign	Het
Trit1	C	A	4: 122,933,372 (GRCm39)	T103K	possibly damaging	Het
Tspan13	A	G	12: 36,065,704 (GRCm39)	F203S	probably damaging	Het
Vmn2r114	C	T	17: 23,528,939 (GRCm39)	D388N	probably damaging	Het
Zfp617	C	T	8: 72,683,015 (GRCm39)	A55V	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTCCTTTGAACCAATGGGC -3'
(R):5'- GTCAATAGCATGCAGGTATGTCTAC -3'

Sequencing Primer
(F):5'- GTCCTTTGAACCAATGGGCAAGTTAC -3'
(R):5'- GCATGCAGGTATGTCTACAAAACTG -3'

Posted On

2018-05-04