Mutagenetix > Incidental Mutation

Incidental Mutation 'R9304:Enpp2'

705137

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 #

R9304 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54702297-54816284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54815969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 65 (R65H)

Ref Sequence

ENSEMBL: ENSMUSP00000154729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000226339]

AlphaFold

Q9R1E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000226339
AA Change: R65H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	G	3: 36,536,072 (GRCm39)	K113E	unknown	Het
4930486L24Rik	T	C	13: 61,001,352 (GRCm39)	Y125C	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam28	A	T	14: 68,874,946 (GRCm39)	Y244N	probably damaging	Het
Ap3b2	T	C	7: 81,113,019 (GRCm39)	D944G	unknown	Het
Asb2	G	A	12: 103,302,225 (GRCm39)	P108S	probably damaging	Het
Cachd1	A	G	4: 100,824,179 (GRCm39)	Y540C	possibly damaging	Het
Ccdc40	A	G	11: 119,122,597 (GRCm39)	Q63R	probably benign	Het
Cdhr5	G	A	7: 140,851,474 (GRCm39)	P610L	probably benign	Het
Cep350	T	C	1: 155,829,464 (GRCm39)	K87E	probably damaging	Het
Csmd3	T	C	15: 47,569,805 (GRCm39)	D1206G		Het
Diaph3	T	C	14: 87,328,448 (GRCm39)	E98G	possibly damaging	Het
Dmbt1	A	T	7: 130,700,855 (GRCm39)	E1185V	unknown	Het
Gapdh	A	G	6: 125,139,819 (GRCm39)	V195A	probably benign	Het
Gm14412	T	C	2: 177,007,547 (GRCm39)	D116G	probably benign	Het
Gucy2e	A	T	11: 69,126,560 (GRCm39)	D273E	probably benign	Het
Gulp1	A	T	1: 44,793,593 (GRCm39)	K85*	probably null	Het
Htra3	A	G	5: 35,836,515 (GRCm39)	V59A	probably benign	Het
Iars2	A	T	1: 185,055,400 (GRCm39)	Y244*	probably null	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Il18r1	A	G	1: 40,510,893 (GRCm39)		probably benign	Het
Mical2	A	G	7: 111,980,974 (GRCm39)	D316G	probably damaging	Het
Myb	A	G	10: 21,028,516 (GRCm39)	S116P	probably damaging	Het
Or2ag1b	A	T	7: 106,288,880 (GRCm39)	D19E	probably benign	Het
Prob1	C	A	18: 35,787,708 (GRCm39)	G182V	probably damaging	Het
Psmb9	A	G	17: 34,406,222 (GRCm39)		probably null	Het
Pudp	T	A	18: 50,701,670 (GRCm39)	D21V	probably damaging	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Rpf2	A	G	10: 40,119,850 (GRCm39)		probably null	Het
Sbk2	A	G	7: 4,960,507 (GRCm39)	I221T	probably damaging	Het
Slc10a1	G	A	12: 81,004,957 (GRCm39)	T195I	probably benign	Het
Spata31h1	G	T	10: 82,131,930 (GRCm39)	P360Q	probably benign	Het
Speer1k	G	A	5: 10,998,949 (GRCm39)	R29Q		Het
Stom	A	G	2: 35,211,697 (GRCm39)	V108A	possibly damaging	Het
Tmem70	C	T	1: 16,737,989 (GRCm39)	T100M	possibly damaging	Het
Trdn	G	T	10: 33,181,087 (GRCm39)		probably null	Het
Trmt61a	T	A	12: 111,647,437 (GRCm39)	V178D	possibly damaging	Het
Trpv4	C	A	5: 114,782,702 (GRCm39)	E87*	probably null	Het
Ttc6	T	C	12: 57,776,117 (GRCm39)	F1687S	probably damaging	Het
Urb2	T	C	8: 124,757,247 (GRCm39)	F985L	probably benign	Het
Vdac3	T	A	8: 23,070,568 (GRCm39)	K114N	probably damaging	Het
Zfp260	T	C	7: 29,804,279 (GRCm39)	S60P	possibly damaging	Het
Zkscan4	T	A	13: 21,665,570 (GRCm39)	S182T	possibly 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
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
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
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'- AATTAGCTCCGCGTTTGTGAG -3'
(R):5'- TCCAATGGAATCACTGTCCC -3'

Sequencing Primer
(F):5'- TTTGTGAGCCTGGAACCC -3'
(R):5'- AATCACTGTCCCCCGGG -3'

Posted On

2022-03-25