Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Enpp2'

37791

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

038515-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0304 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

54838901-54952892 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54877806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 365 (D365E)

Ref Sequence

ENSEMBL: ENSMUSP00000133877 (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

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 benign
Transcript: ENSMUST00000171545
AA Change: D365E

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: D365E

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: D365E

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: D365E

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

Meta Mutation Damage Score

0.0687

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	C	T	4: 144,520,049	T55I	probably benign	Het
Acod1	T	A	14: 103,054,982	I314N	probably damaging	Het
Actl11	T	A	9: 107,929,768	V430E	probably damaging	Het
Adam19	A	C	11: 46,127,392	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,752,570		probably benign	Het
Akap7	A	T	10: 25,271,552	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,628,981	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,859,801		probably benign	Het
Atm	T	A	9: 53,516,344	I489F	probably benign	Het
AU019823	T	C	9: 50,607,922	D130G	probably damaging	Het
Carmil1	T	C	13: 24,139,341	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,317,248	V939A	probably damaging	Het
Cel	A	C	2: 28,557,771	L377R	probably benign	Het
Clock	A	G	5: 76,226,985	V779A	unknown	Het
Cluap1	G	A	16: 3,929,918		probably benign	Het
Ctif	A	T	18: 75,521,818	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,252,932		probably benign	Het
Cytip	T	C	2: 58,148,246	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 24,864,815	M434T	probably benign	Het
Ddx47	A	G	6: 135,017,220	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,159,115	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,106,793		probably benign	Het
Drc7	A	T	8: 95,059,128	D204V	probably damaging	Het
Dsc3	A	G	18: 19,981,241	Y319H	probably damaging	Het
Eml6	T	C	11: 29,777,441	Q1227R	probably benign	Het
Ercc2	T	C	7: 19,386,708	I199T	possibly damaging	Het
Exd2	G	A	12: 80,491,240		probably benign	Het
F2	A	T	2: 91,633,233	I128N	probably damaging	Het
Fam219b	T	C	9: 57,538,876	L123P	probably damaging	Het
Fasn	A	G	11: 120,819,936	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,752,400	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,194,721	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,590,562	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241	T176A	probably benign	Het
Gm20530	T	G	17: 36,094,226		noncoding transcript	Het
Gm4787	A	T	12: 81,378,934	I150N	probably damaging	Het
Grip1	G	A	10: 120,075,471	S618N	probably benign	Het
Hdac9	T	C	12: 34,374,111	K454E	probably damaging	Het
Iars2	T	A	1: 185,287,156	I978F	possibly damaging	Het
Icosl	A	G	10: 78,075,322	Y299C	probably benign	Het
Idi1	T	C	13: 8,890,357	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,291	Q531P	probably damaging	Het
Itih4	T	A	14: 30,890,094		probably null	Het
Izumo4	A	T	10: 80,702,936	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,976,521		probably null	Het
Kynu	A	T	2: 43,679,881	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,592,776	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552	L273R	probably damaging	Het
Max	A	G	12: 76,938,587	L119P	probably benign	Het
Mphosph9	T	C	5: 124,298,829	N484S	probably benign	Het
Mrgprg	A	G	7: 143,765,055	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,421,338	I199F	probably benign	Het
Mtr	C	G	13: 12,222,154		probably null	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nptx2	A	G	5: 144,553,650		probably benign	Het
Nrip1	T	C	16: 76,292,707	Q654R	possibly damaging	Het
Ocm	A	G	5: 144,024,534	F30L	probably damaging	Het
Olfr1216	G	A	2: 89,013,288	R259W	probably damaging	Het
Olfr1223	A	C	2: 89,144,764	Y86*	probably null	Het
Olfr297	C	T	7: 86,526,987	P77S	probably damaging	Het
Olfr600	G	T	7: 103,346,711	D72E	probably damaging	Het
Oosp1	T	C	19: 11,690,969	M17V	probably benign	Het
Pax1	A	T	2: 147,366,147	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pkd1	C	A	17: 24,585,946	Q3190K	probably damaging	Het
Pkn1	A	C	8: 83,683,607		probably benign	Het
Plin5	T	C	17: 56,115,597	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,482,345	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 65,816,006	D334E	probably benign	Het
Ptov1	A	T	7: 44,863,449		probably null	Het
Rab22a	G	A	2: 173,661,459	V22M	probably damaging	Het
Rictor	T	A	15: 6,786,371		probably null	Het
Sart1	G	T	19: 5,380,531		probably benign	Het
Scn11a	G	A	9: 119,819,862	A45V	probably benign	Het
Serpina5	A	G	12: 104,103,200	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,352,401	G212C	probably damaging	Het
Slc38a4	A	T	15: 97,008,454	M378K	probably damaging	Het
Spata22	T	A	11: 73,340,449	C176*	probably null	Het
Tmc3	G	A	7: 83,596,139	E131K	probably damaging	Het
Trappc10	A	T	10: 78,210,760		probably benign	Het
Uvrag	A	G	7: 98,887,973	F672L	probably benign	Het
Vmn1r121	A	G	7: 21,098,407	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,626	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,410,496	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 13,102,780	M56I	probably benign	Het
Wdr62	T	C	7: 30,242,874	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,430,714	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,725,336		probably benign	Het
Zfp607a	A	T	7: 27,879,212	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,701,188	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,774,434	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,880,624	D1644V	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
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
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'- TCCTAGACTCAGAGCCAAGGAGAAC -3'
(R):5'- TTTGCCAACTCAGACTCTGCTGAC -3'

Sequencing Primer
(F):5'- CACAGCAGTTCTCTTAAACCTTAC -3'
(R):5'- GGAAAAGTATGAGCTTTCCTCTCTG -3'

Posted On

2013-05-23