Mutagenetix > Incidental Mutation

Incidental Mutation 'R3934:Enpp2'

306957

Institutional Source

Beutler Lab

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 #

R3934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54702297-54816284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54709317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 766 (V766A)

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: V718A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: V718A

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: V743A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: V743A

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: V770A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: V770A

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: V766A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: V766A

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

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	T	A	12: 18,584,082 (GRCm39)	Y381N	possibly damaging	Het
Adgrf3	T	C	5: 30,405,432 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,623,166 (GRCm39)	F3819S	probably benign	Het
Aig1	T	C	10: 13,677,656 (GRCm39)	D112G	probably damaging	Het
Akap6	C	T	12: 53,187,227 (GRCm39)	T1547M	possibly damaging	Het
Alk	T	A	17: 72,512,949 (GRCm39)	I337F	probably damaging	Het
C2cd5	C	T	6: 142,987,106 (GRCm39)	V499I	possibly damaging	Het
Capn11	A	T	17: 45,945,213 (GRCm39)		probably benign	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Cmbl	A	G	15: 31,589,933 (GRCm39)	D221G	possibly damaging	Het
Fastk	G	T	5: 24,647,257 (GRCm39)	S317*	probably null	Het
Fgfr1op2	T	A	6: 146,496,669 (GRCm39)		probably benign	Het
Gpr85	A	G	6: 13,836,044 (GRCm39)	F287L	probably benign	Het
Hectd4	G	A	5: 121,458,164 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,270,496 (GRCm39)		probably null	Het
Hspbp1	A	T	7: 4,667,594 (GRCm39)	M271K	probably benign	Het
Itgb6	G	A	2: 60,441,755 (GRCm39)	T685M	possibly damaging	Het
Itih5	G	A	2: 10,250,355 (GRCm39)	V685I	probably damaging	Het
Kalrn	T	C	16: 34,130,901 (GRCm39)	S421G	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mitf	C	T	6: 97,970,214 (GRCm39)	P54S	probably damaging	Het
Perm1	A	G	4: 156,303,627 (GRCm39)	T724A	probably benign	Het
Pex5l	T	C	3: 33,061,321 (GRCm39)	E176G	probably damaging	Het
Polk	A	T	13: 96,638,143 (GRCm39)	M192K	possibly damaging	Het
Polr3a	T	C	14: 24,526,169 (GRCm39)	I401V	probably benign	Het
Prpf38b	T	C	3: 108,811,741 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,886,938 (GRCm39)	S330P	probably damaging	Het
Slc16a7	C	A	10: 125,066,712 (GRCm39)	R309L	probably damaging	Het
Slc35f1	C	T	10: 52,984,314 (GRCm39)	T358I	probably damaging	Het
Slc39a12	T	A	2: 14,439,174 (GRCm39)		probably benign	Het
Sod3	T	C	5: 52,525,987 (GRCm39)	S229P	probably benign	Het
Sorcs3	T	A	19: 48,701,943 (GRCm39)	V608D	probably damaging	Het
Spink5	G	T	18: 44,149,494 (GRCm39)	K958N	probably damaging	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 187,995,708 (GRCm39)		probably null	Het
Vmn2r19	T	A	6: 123,292,628 (GRCm39)	D223E	probably damaging	Het
Vwf	T	A	6: 125,532,462 (GRCm39)	S87T	probably damaging	Het
Wdr35	G	T	12: 9,058,014 (GRCm39)	G513C	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTAGCACATGAGAATCATTGACTGG -3'
(R):5'- GACTCACTGGCTTACGCTTC -3'

Sequencing Primer
(F):5'- CACATGAGAATCATTGACTGGTATCC -3'
(R):5'- CTTTTGCAAGTTCACAGTGCAC -3'

Posted On

2015-04-17