Mutagenetix > Incidental Mutation

Incidental Mutation 'R7430:Enpp1'

576405

Institutional Source

Beutler Lab

Gene Symbol

Enpp1

Ensembl Gene

ENSMUSG00000037370

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 1

Synonyms

PC-1, Npps, E-NPP1, Pca-1, twy, NPP1, 4833416E15Rik, Pdnp1, Pca, CD203c, Ly-41

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R7430 (G1)

Quality Score

121.008

Status

Not validated

Chromosome

Chromosomal Location

24637914-24712159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24711950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 14 (H14Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039882] [ENSMUST00000105520] [ENSMUST00000135846]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039882
AA Change: H14Q

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046090
Gene: ENSMUSG00000037370
AA Change: H14Q

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
low complexity region	59	69	N/A	INTRINSIC
SO	86	126	2.17e-14	SMART
SO	127	170	1.51e-13	SMART
Pfam:Phosphodiest	194	358	1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105520
AA Change: H14Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: H14Q

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
SO	86	126	2.17e-14	SMART
SO	127	170	1.51e-13	SMART
Pfam:Phosphodiest	194	520	1.8e-87	PFAM
Endonuclease_NS	655	873	5.33e-15	SMART
NUC	656	887	3.62e-107	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135846
AA Change: H14Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: H14Q

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
SO	86	126	2.17e-14	SMART
SO	127	170	1.51e-13	SMART
Pfam:Phosphodiest	194	520	4.2e-91	PFAM
Endonuclease_NS	656	874	5.33e-15	SMART
NUC	657	888	3.62e-107	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the nucleoside pyrophosphatase/phosphodiesterase family of enzymes that catalyzes the hydrolysis of pyrophosphate and phosphodiester bonds in nucleotide triphosphates and oligonucleotides, respectively, to generate nucleoside 5'-monophosphates. The encoded protein is a type II transmembrane glycoprotein that negatively regulates bone mineralization. Mice harboring a nonsense mutation in this gene, termed tiptoe walking (ttw), exhibit ectopic ossification of the spinal ligaments. The encoded protein binds to the insulin receptor, inhibits downstream signaling events and induces insulin resistance and glucose tolerance. This gene is located adjacent to a paralog on chromosome 10. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele develop hyperostosis leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification, and display spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	C	17: 24,364,958		probably null	Het
Ankrd17	C	G	5: 90,295,657	E384Q	possibly damaging	Het
Atp8b4	A	T	2: 126,403,371	V286E	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC	3: 95,888,169		probably benign	Het
Brms1l	T	C	12: 55,845,299	L126P	probably damaging	Het
C2cd4d	G	A	3: 94,364,350	V308M	possibly damaging	Het
Calcr	A	G	6: 3,708,586	L200S	probably damaging	Het
Card6	G	T	15: 5,099,200	Q905K	probably benign	Het
Chka	A	G	19: 3,892,787	Y415C	probably damaging	Het
Cnih1	C	T	14: 46,780,222	V52I	possibly damaging	Het
Cox4i1	T	A	8: 120,674,031	M145K	probably damaging	Het
Cubn	G	T	2: 13,322,993	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,900,593	E692G	probably damaging	Het
Dnah8	T	C	17: 30,706,389	F1266S	probably damaging	Het
Edc4	T	C	8: 105,891,584	S1245P	probably damaging	Het
Fam181b	G	A	7: 93,080,195	V59M	probably benign	Het
Fat4	T	A	3: 38,887,450	I164N	probably damaging	Het
Fat4	A	G	3: 39,009,644	D4583G	probably damaging	Het
Fgb	C	T	3: 83,046,707	V75I	probably benign	Het
Fign	T	C	2: 63,979,060	D622G	probably damaging	Het
Frmd3	A	G	4: 74,145,105	D223G	probably damaging	Het
Gclm	G	A	3: 122,246,080	R32Q	probably benign	Het
Grsf1	A	T	5: 88,663,227	I428N	possibly damaging	Het
Hnrnpll	T	A	17: 80,049,847	I247F	probably damaging	Het
Hscb	T	A	5: 110,829,158	I223L	probably benign	Het
Ifi204	C	T	1: 173,755,681	A324T	probably benign	Het
Itgav	G	A	2: 83,794,258	V731M	probably damaging	Het
Lor	C	T	3: 92,081,899	G27S	unknown	Het
Lpin3	A	G	2: 160,898,666	D377G	probably benign	Het
Marveld3	A	G	8: 109,948,468	S239P	possibly damaging	Het
Mast3	A	C	8: 70,780,303	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,557,933	I198M	probably benign	Het
Mup14	C	T	4: 61,303,448	G35E	probably damaging	Het
Myh1	C	T	11: 67,205,567	Q291*	probably null	Het
Myo1a	T	A	10: 127,706,847	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,108,403	T794A	probably benign	Het
Nkx6-2	T	C	7: 139,582,000	T154A	probably damaging	Het
Olfr577	A	T	7: 102,973,762	S77T	probably damaging	Het
Olfr828	T	C	9: 18,815,354	*313W	probably null	Het
Ovgp1	G	C	3: 105,986,302	A464P	probably damaging	Het
Ovgp1	C	T	3: 105,986,303	A464V	possibly damaging	Het
Pde6c	T	A	19: 38,141,439	Y266N	probably damaging	Het
Per2	C	A	1: 91,423,983	E934*	probably null	Het
Pgm2	T	A	4: 99,955,995	M1K	probably null	Het
Pifo	T	C	3: 106,014,518	R30G	probably benign	Het
Plcb4	T	C	2: 135,968,322	Y626H	probably damaging	Het
Postn	T	A	3: 54,370,202	V206D	probably damaging	Het
Prss29	T	A	17: 25,321,139		probably null	Het
Ptges3l	C	A	11: 101,423,815	V85L	possibly damaging	Het
Riok2	T	C	17: 17,387,540	L450S	probably benign	Het
Rpap3	A	T	15: 97,688,150	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,846,828	W576R	probably damaging	Het
Sgk3	A	G	1: 9,872,258	D85G	probably benign	Het
Slc2a1	A	G	4: 119,136,313	Y449C	probably damaging	Het
Slco1a5	A	T	6: 142,248,712	S402T	probably benign	Het
Smad2	T	A	18: 76,288,080	V160E	probably damaging	Het
Snx13	T	C	12: 35,133,358	V760A	possibly damaging	Het
Sugt1	T	A	14: 79,619,801		probably null	Het
Syne2	C	T	12: 75,933,996	T1509M	probably damaging	Het
Syne2	T	A	12: 76,040,410	L214*	probably null	Het
Tmem120a	T	A	5: 135,736,136		probably null	Het
Tmem161b	A	G	13: 84,282,747		probably null	Het
Trim33	T	C	3: 103,310,903	I256T	possibly damaging	Het
Tspan17	G	A	13: 54,795,972	E213K	probably benign	Het
Ttc6	T	A	12: 57,658,102	I631N	probably benign	Het
Ttn	T	A	2: 76,810,939	L13574F	probably damaging	Het
Tufm	A	G	7: 126,489,127	D228G	probably benign	Het
Usf1	T	A	1: 171,417,727	S236T	probably benign	Het
Usp39	T	C	6: 72,342,917	Y106C	probably damaging	Het
Usp46	T	A	5: 74,003,188	Y296F	probably damaging	Het
Vmn2r82	A	G	10: 79,381,253	N473S	probably damaging	Het
Washc5	A	T	15: 59,369,913	Y51*	probably null	Het
Zfp651	G	A	9: 121,763,666	D351N	probably benign	Het
Zfp763	T	A	17: 33,019,532	Y213F	possibly damaging	Het
Zswim5	A	G	4: 116,975,857	T596A	possibly damaging	Het

Other mutations in Enpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Enpp1	APN	10	24645427	missense	possibly damaging	0.93
IGL00966:Enpp1	APN	10	24654031	missense	probably damaging	1.00
IGL01364:Enpp1	APN	10	24664614	missense	probably damaging	1.00
IGL02040:Enpp1	APN	10	24655856	missense	probably damaging	1.00
IGL02143:Enpp1	APN	10	24677974	missense	probably damaging	1.00
IGL02631:Enpp1	APN	10	24641961	missense	probably damaging	1.00
IGL02655:Enpp1	APN	10	24677974	missense	probably damaging	1.00
IGL02677:Enpp1	APN	10	24679185	splice site	probably benign
IGL02691:Enpp1	APN	10	24711892	missense	probably damaging	0.99
IGL02966:Enpp1	APN	10	24660274	missense	probably damaging	1.00
IGL03087:Enpp1	APN	10	24655881	splice site	probably benign
IGL03330:Enpp1	APN	10	24664906	splice site	probably benign
IGL03365:Enpp1	APN	10	24669025	missense	probably damaging	1.00
IGL03377:Enpp1	APN	10	24660283	critical splice acceptor site	probably null
PIT4651001:Enpp1	UTSW	10	24653950	missense	probably benign	0.16
R0011:Enpp1	UTSW	10	24670002	nonsense	probably null
R0201:Enpp1	UTSW	10	24653917	missense	probably benign	0.00
R0496:Enpp1	UTSW	10	24672052	missense	probably benign	0.18
R1228:Enpp1	UTSW	10	24645412	missense	probably benign	0.30
R1536:Enpp1	UTSW	10	24641834	missense	probably benign	0.27
R1927:Enpp1	UTSW	10	24654888	missense	possibly damaging	0.65
R2051:Enpp1	UTSW	10	24711804	critical splice donor site	probably null
R2057:Enpp1	UTSW	10	24660192	missense	probably damaging	0.98
R2353:Enpp1	UTSW	10	24651341	missense	probably benign	0.24
R4077:Enpp1	UTSW	10	24669007	critical splice donor site	probably null
R4079:Enpp1	UTSW	10	24669007	critical splice donor site	probably null
R4739:Enpp1	UTSW	10	24679248	missense	probably null	0.99
R4740:Enpp1	UTSW	10	24679248	missense	probably null	0.99
R4761:Enpp1	UTSW	10	24641951	missense	possibly damaging	0.94
R4822:Enpp1	UTSW	10	24661935	missense	possibly damaging	0.74
R4919:Enpp1	UTSW	10	24648085	missense	probably benign	0.01
R5140:Enpp1	UTSW	10	24652852	missense	possibly damaging	0.51
R5302:Enpp1	UTSW	10	24651390	missense	probably benign
R5421:Enpp1	UTSW	10	24669757	missense	probably damaging	1.00
R5695:Enpp1	UTSW	10	24654908	missense	probably damaging	0.99
R5735:Enpp1	UTSW	10	24654919	missense	possibly damaging	0.92
R5789:Enpp1	UTSW	10	24647239	missense	probably benign
R5942:Enpp1	UTSW	10	24676068	nonsense	probably null
R6048:Enpp1	UTSW	10	24660254	missense	probably damaging	1.00
R6053:Enpp1	UTSW	10	24657126	missense	possibly damaging	0.93
R6305:Enpp1	UTSW	10	24641882	missense	probably damaging	1.00
R6319:Enpp1	UTSW	10	24648031	missense	probably damaging	1.00
R6624:Enpp1	UTSW	10	24669755	nonsense	probably null
R6793:Enpp1	UTSW	10	24655825	missense	probably damaging	1.00
R6936:Enpp1	UTSW	10	24651339	missense	probably benign	0.30
R7255:Enpp1	UTSW	10	24645315	missense	possibly damaging	0.95
R7285:Enpp1	UTSW	10	24660161	missense	probably benign	0.01
R7401:Enpp1	UTSW	10	24645282	missense	probably damaging	1.00
R7429:Enpp1	UTSW	10	24711950	missense	probably benign	0.00
R7526:Enpp1	UTSW	10	24674410	splice site	probably null
R7532:Enpp1	UTSW	10	24675987	missense	probably benign	0.29
R7789:Enpp1	UTSW	10	24654083	splice site	probably null
R8073:Enpp1	UTSW	10	24679244	missense	possibly damaging	0.50
R8283:Enpp1	UTSW	10	24674656	missense	probably benign	0.25
R8955:Enpp1	UTSW	10	24669028	missense	probably benign	0.01
R9494:Enpp1	UTSW	10	24651336	missense	probably benign
Z1177:Enpp1	UTSW	10	24661942	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGTGACTATTTTAGCAGCCTG -3'
(R):5'- GTCAGGGACCCAAAATAGCC -3'

Sequencing Primer
(F):5'- TCCTGCTGGGAGAGGGGTAAG -3'
(R):5'- GAAGCCAAATACCCGGGGC -3'

Posted On

2019-10-07