Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Enpp2'

219808

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

039983-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54838901-54952892 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54882982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 296 (D296G)

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
AA Change: D296G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: D296G

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: D296G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: D296G

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: D296G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: D296G

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: D296G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: D296G

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

0.3421

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,575	H578Q	probably benign	Het
Abcc12	A	G	8: 86,527,281	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,673,602		probably null	Het
Acap2	A	G	16: 31,133,527		probably null	Het
Adgrb1	T	C	15: 74,539,877		probably benign	Het
Akap6	T	A	12: 52,938,475	V897E	probably damaging	Het
Als2	A	T	1: 59,215,169	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,542,593	I1275M	probably damaging	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,376,993		probably benign	Het
Blnk	T	C	19: 40,940,165		probably benign	Het
C1qtnf4	T	C	2: 90,889,659	M92T	probably damaging	Het
C77080	A	G	4: 129,226,017		probably benign	Het
Ccdc177	G	A	12: 80,758,712	R263C	unknown	Het
Ccdc83	T	A	7: 90,244,154	S132C	probably damaging	Het
Cdc7	A	G	5: 106,973,074		probably benign	Het
Cgnl1	T	A	9: 71,725,535	N178I	probably benign	Het
Col27a1	C	T	4: 63,273,117		probably benign	Het
Col5a1	A	T	2: 27,986,754	M822L	unknown	Het
Coro7	T	C	16: 4,633,756	I451V	probably benign	Het
Csmd3	T	C	15: 48,673,531	T92A	probably damaging	Het
Ddc	A	G	11: 11,815,292	V460A	possibly damaging	Het
Ddx4	C	T	13: 112,600,013	V608I	probably damaging	Het
Ddx60	A	T	8: 61,972,206	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,148,989	E48G	probably benign	Het
Dpf3	T	A	12: 83,325,035		probably null	Het
Dydc2	A	G	14: 41,061,903	C88R	probably benign	Het
Elovl4	A	G	9: 83,780,719	Y163H	probably damaging	Het
Fam83h	G	T	15: 76,006,570		probably benign	Het
Fbf1	T	A	11: 116,151,491	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,454,851	L323Q	probably damaging	Het
Fmnl2	T	A	2: 53,105,576	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,197,262	S420P	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Garem2	G	T	5: 30,117,174	G844*	probably null	Het
Glmp	T	C	3: 88,327,870	L269S	probably damaging	Het
Gm2000	T	G	1: 156,366,447	*124G	probably null	Het
Gm9915	T	C	1: 42,230,721		noncoding transcript	Het
Gnb4	A	T	3: 32,598,141	D27E	probably damaging	Het
Gnb5	A	G	9: 75,344,650		probably null	Het
Gpr161	T	G	1: 165,306,358	V63G	probably damaging	Het
Gsk3a	T	A	7: 25,229,721		probably benign	Het
Hapln2	T	C	3: 88,024,120		probably null	Het
Incenp	G	T	19: 9,885,487	T401N	unknown	Het
Kalrn	A	G	16: 33,977,524		probably null	Het
Kcnq3	A	G	15: 66,028,623		probably null	Het
Kif21b	T	C	1: 136,171,156	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,833,686	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,959,572	A291T	probably damaging	Het
Lcp1	T	C	14: 75,200,506	S119P	probably damaging	Het
Ldhc	A	G	7: 46,869,751	I133V	probably benign	Het
Lmntd2	G	A	7: 141,212,059		probably benign	Het
Lpl	A	T	8: 68,896,802	K327*	probably null	Het
Lrp1b	T	C	2: 40,875,069	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,229,772	A131S	probably benign	Het
Msh3	T	A	13: 92,249,820		probably benign	Het
Msh5	A	G	17: 35,033,600	I377T	probably damaging	Het
Myo1e	T	C	9: 70,368,773	F757L	probably benign	Het
Myof	A	T	19: 37,945,634	D955E	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Ncor2	T	C	5: 125,038,918	D858G	probably damaging	Het
Neb	A	T	2: 52,263,905	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,086,672	T453R	probably benign	Het
Nf1	A	G	11: 79,553,961	N371D	probably benign	Het
Nlrp4f	T	C	13: 65,194,091	Y580C	probably damaging	Het
Nme8	A	C	13: 19,652,322	L228R	probably damaging	Het
Numa1	C	T	7: 102,009,322	A1605V	probably damaging	Het
Ofd1	T	C	X: 166,427,214	Y205C	probably benign	Het
Olfr1047	T	A	2: 86,228,252	T240S	probably damaging	Het
Olfr1283	C	T	2: 111,369,076	S148L	probably benign	Het
Olfr1532-ps1	G	A	7: 106,914,246	G16D	probably damaging	Het
Olfr693	T	A	7: 106,677,670	N272I	probably damaging	Het
Olfr972	T	A	9: 39,873,938	I221N	probably damaging	Het
Pclo	A	G	5: 14,713,473	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,066,494		probably benign	Het
Pdxk	G	A	10: 78,441,154	T270I	probably damaging	Het
Pex5	T	C	6: 124,414,405	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,900,386		probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,941,126	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,962,517	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,285,910		probably null	Het
Pom121l2	A	G	13: 21,983,472	I638V	probably damaging	Het
Prag1	A	G	8: 36,129,160		probably null	Het
Ranbp10	A	G	8: 105,786,708	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,733,711	L824P	probably damaging	Het
Rec8	T	C	14: 55,624,142	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,797,241	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,615,670	T373K	probably benign	Het
Rrn3	T	C	16: 13,789,074	S151P	probably damaging	Het
Scn7a	A	G	2: 66,684,289	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,515,380	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,747,510	D706G	probably damaging	Het
Serpina5	A	T	12: 104,103,857	T338S	probably benign	Het
Sez6	G	A	11: 77,954,068		probably null	Het
Shisa4	C	T	1: 135,372,274	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,968,585	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,646,173	L51V	probably benign	Het
Slit3	A	G	11: 35,630,841		probably null	Het
Spata13	G	T	14: 60,691,463	G157W	probably damaging	Het
Spta1	T	C	1: 174,240,367	V2120A	possibly damaging	Het
Srpr	T	C	9: 35,213,538		probably null	Het
Syt6	A	G	3: 103,587,420	I234V	probably benign	Het
Thada	G	T	17: 84,310,042	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,176,909	R58W	probably damaging	Het
Top3b	A	G	16: 16,883,519	I232V	probably damaging	Het
Tspan1	T	A	4: 116,163,629	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,235,635	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,073,077	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,151,781	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,328,942	S415P	probably damaging	Het
Vcan	A	T	13: 89,689,038	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,136,206	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,834,948	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,454,039	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 85,151,805	Y308N	probably benign	Het
Vmn2r75	A	T	7: 86,148,262	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,780,171	I500F	probably damaging	Het
Zfp609	A	G	9: 65,795,277	V31A	probably damaging	Het
Zfp689	G	T	7: 127,444,787	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,335,501	L113H	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
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'- AAATGGTCCCCTGGTAACTG -3'
(R):5'- GCCTAGGGTAATTTTGTTCAACAG -3'

Sequencing Primer
(F):5'- ACGTCAATCCTTGGCTGT -3'
(R):5'- TTTTGTTCAACAGAGGAATGGCAG -3'

Posted On

2014-08-25