Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Enpp2'

366088

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

042406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54838901-54952892 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54875672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 353 (V353A)

Ref Sequence

ENSEMBL: ENSMUSP00000036180 (fasta)

Gene Model

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

AlphaFold

Q9R1E6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041591
AA Change: V353A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: V353A

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

possibly damaging
Transcript: ENSMUST00000167541
AA Change: V353A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: V353A

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

possibly damaging
Transcript: ENSMUST00000171545
AA Change: V405A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: V405A

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

possibly damaging
Transcript: ENSMUST00000173516
AA Change: V405A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: V405A

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,881,161	R490C	probably benign	Het
Abcb11	A	T	2: 69,245,867	F1166I	probably damaging	Het
Acta2	T	C	19: 34,246,152	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,106,919	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,712,291	S49A	probably benign	Het
Azi2	A	T	9: 118,061,471		probably benign	Het
Bend3	A	T	10: 43,510,750	S380C	probably damaging	Het
Bicc1	T	C	10: 70,940,593	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,278	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 47,713,547	W75L	probably damaging	Het
Cenpj	G	A	14: 56,549,545	R192*	probably null	Het
Cflar	T	C	1: 58,732,321	S203P	probably damaging	Het
Chd6	A	T	2: 160,966,244	C1683*	probably null	Het
Cpsf2	A	G	12: 101,997,440	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,191	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,214,096	R1536S	probably damaging	Het
Depdc5	A	C	5: 32,937,635	D752A	probably damaging	Het
Dnah9	C	T	11: 65,927,726	G78D	probably damaging	Het
Drc1	G	T	5: 30,348,731	Q249H	probably benign	Het
Drg1	T	C	11: 3,250,280	I364V	probably benign	Het
Dtymk	T	C	1: 93,792,909	H130R	probably damaging	Het
Elac2	T	G	11: 64,992,222	F140V	probably damaging	Het
Fat2	T	C	11: 55,281,187	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,462,236	T536K	probably benign	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Gadl1	A	G	9: 115,966,313	K328R	probably null	Het
Gata6	A	G	18: 11,054,394	T108A	probably benign	Het
Gm16503	G	T	4: 147,541,097	G16V	unknown	Het
Gpr37	T	G	6: 25,669,108	E579A	probably damaging	Het
Gps2	T	C	11: 69,916,361		probably benign	Het
Hcn4	A	T	9: 58,857,977	I581F	unknown	Het
Hfm1	T	A	5: 106,842,539	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,329,705	S1018R	probably benign	Het
Katnal2	C	T	18: 76,977,543		probably null	Het
Kctd8	T	C	5: 69,340,848	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,854,395	C459R	probably damaging	Het
Ly6l	A	T	15: 75,449,694	I48L	probably benign	Het
Megf10	A	T	18: 57,287,794	I835F	possibly damaging	Het
Mei1	A	T	15: 82,112,485	I946F	possibly damaging	Het
Mkl2	C	A	16: 13,412,594	P1048T	probably damaging	Het
Myo7b	G	C	18: 31,961,900	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,819,024		probably null	Het
Olfr142	T	A	2: 90,252,463	Y175F	probably damaging	Het
Olfr1449	T	C	19: 12,935,076	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,822,069	S799P	probably benign	Het
Plk4	A	G	3: 40,802,022	E97G	probably damaging	Het
Pole2	A	T	12: 69,222,052	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,200,489	V109L	probably benign	Het
Scn8a	A	G	15: 101,040,471	H1917R	probably benign	Het
Scyl2	C	T	10: 89,659,298	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,219,431	E298D	probably benign	Het
Shoc2	A	G	19: 53,988,303	E208G	probably benign	Het
Sin3a	G	A	9: 57,096,803	V280I	probably benign	Het
Slc26a2	A	T	18: 61,199,486	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,038,083	F430L	possibly damaging	Het
Snx19	A	C	9: 30,440,157	Q840H	probably damaging	Het
Spast	C	A	17: 74,369,216	D340E	probably damaging	Het
Sprr4	G	A	3: 92,500,409	P29S	unknown	Het
Stk11ip	T	G	1: 75,527,155	L239R	probably damaging	Het
Thoc6	A	G	17: 23,670,888	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,877	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,742,927	I1284V	probably benign	Het
Ttn	A	G	2: 76,710,987	L33885P	probably damaging	Het
Ttn	T	C	2: 76,772,507	Y16711C	probably damaging	Het
Ubn2	T	A	6: 38,479,140	C501S	probably damaging	Het
Ubr1	A	T	2: 120,963,442	L87*	probably null	Het
Uhmk1	T	C	1: 170,199,901	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,240,547	V465A	probably damaging	Het
Vmn1r1	C	T	1: 182,157,906	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,823,223	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,906,568	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,400,152	L1790P	probably benign	Het
Zscan4d	T	A	7: 11,162,667	M259L	probably benign	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
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
R8301:Enpp2	UTSW	15	54851407	missense	probably benign
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
R9674:Enpp2	UTSW	15	54952739	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAATACCCTGGGAAACTTCTG -3'
(R):5'- CCTCTGGGCCAGAAGTTTTC -3'

Sequencing Primer
(F):5'- AGACAGGGTCTCACTTTGTAGCTC -3'
(R):5'- GGCCAGAAGTTTTCTTTCCAGAATG -3'

Posted On

2015-12-21