Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Enpp1'

226442

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

040058-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R2051 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

24637914-24712159 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 24711804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114273 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039882

SMART Domains

Protein: ENSMUSP00000046090
Gene: ENSMUSG00000037370

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: ENSMUST00000039882

SMART Domains

Protein: ENSMUSP00000046090
Gene: ENSMUSG00000037370

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 null
Transcript: ENSMUST00000105520

SMART Domains

Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370

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 null
Transcript: ENSMUST00000105520

SMART Domains

Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370

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 null
Transcript: ENSMUST00000135846

SMART Domains

Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370

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

Predicted Effect

probably null
Transcript: ENSMUST00000135846

SMART Domains

Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150570

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,564,185	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,711,048	K10N	possibly damaging	Het
Aadat	T	A	8: 60,507,139	S40T	probably benign	Het
Abca13	A	G	11: 9,328,098	I3093V	probably benign	Het
Acacb	A	T	5: 114,245,890	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,168,017	S189I	probably benign	Het
Actr5	A	T	2: 158,632,293	M339L	probably benign	Het
Adcy1	A	T	11: 7,161,885	K917*	probably null	Het
Adgrg5	C	T	8: 94,942,067	R504C	probably benign	Het
Ago1	T	C	4: 126,460,453	H188R	probably benign	Het
Akap9	T	A	5: 3,975,685	C23*	probably null	Het
Ank3	T	C	10: 69,898,090	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,454,493	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,981,860	R84H	probably benign	Het
Arhgef10	A	G	8: 14,945,320	D7G	probably null	Het
Arid4b	A	G	13: 14,187,645	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,691,849	N727S	probably benign	Het
Baalc	G	T	15: 38,933,234		probably benign	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Chpf2	G	T	5: 24,591,276	V407L	probably benign	Het
Chrnb3	C	A	8: 27,386,811	N84K	probably damaging	Het
Cnot1	A	G	8: 95,724,593	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,621,993		probably null	Het
Cux1	T	A	5: 136,332,658	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,082,231	N286S	probably benign	Het
Dclre1b	T	C	3: 103,809,040	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,411,484	S221P	probably benign	Het
Dnah1	T	G	14: 31,279,123	T2422P	probably damaging	Het
Erbb2	T	C	11: 98,420,172	C53R	probably damaging	Het
Exoc8	A	G	8: 124,895,480	V716A	probably benign	Het
Fam193a	T	A	5: 34,462,150	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,132	G310W	probably damaging	Het
Fcgbp	C	T	7: 28,120,360	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,757,532	P418L	probably benign	Het
Gjd2	T	C	2: 114,011,058	T313A	probably damaging	Het
Gm12695	T	A	4: 96,769,771	R54W	probably damaging	Het
Gm128	T	C	3: 95,240,740	D81G	possibly damaging	Het
Gm21834	A	G	17: 57,741,768	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,586,152		probably null	Het
Hcn1	C	T	13: 117,976,083	T861I	probably damaging	Het
Herc6	C	A	6: 57,625,976	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,120,167	L699P	probably damaging	Het
Kank4	T	C	4: 98,780,102	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,142,209	S295T	probably damaging	Het
Krt18	T	C	15: 102,029,500	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,949,204	I244V	unknown	Het
Leng1	T	G	7: 3,665,401	N16T	probably damaging	Het
Lss	A	G	10: 76,531,878	K15E	possibly damaging	Het
Mastl	G	T	2: 23,132,824	A629E	possibly damaging	Het
Mavs	G	C	2: 131,240,450	A85P	possibly damaging	Het
Nav3	T	C	10: 109,824,675	D678G	probably damaging	Het
Nsd3	T	G	8: 25,691,089	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,503,082	N118S	probably damaging	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1178	C	T	2: 88,391,538	T97M	possibly damaging	Het
Olfr429	T	A	1: 174,089,219	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,436,508	S281P	probably benign	Het
Pds5b	T	G	5: 150,748,190	I433R	probably damaging	Het
Peg3	T	C	7: 6,712,721	N117D	probably damaging	Het
Pfkm	A	T	15: 98,131,692	D728V	probably benign	Het
Phkb	T	C	8: 86,049,821		probably null	Het
Pkp4	T	C	2: 59,334,904	V704A	probably benign	Het
Ppfia2	T	A	10: 106,837,299	S501T	probably damaging	Het
Ptpru	T	C	4: 131,819,087	E284G	possibly damaging	Het
Ror1	C	T	4: 100,407,868	R180*	probably null	Het
Ryr3	T	A	2: 112,756,641	Y2666F	probably damaging	Het
Sec23a	C	A	12: 58,990,968		probably null	Het
Sertad3	C	T	7: 27,476,269	Q43*	probably null	Het
Setd2	C	T	9: 110,550,890	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,348,207	S177P	probably benign	Het
Skap1	T	C	11: 96,541,463	F86S	possibly damaging	Het
Slc8a2	T	C	7: 16,141,015	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,726,437	F329S	probably damaging	Het
Slx4ip	C	T	2: 137,066,205	L161F	possibly damaging	Het
Sox4	A	G	13: 28,952,781	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,970,264	S28R	probably benign	Het
St8sia2	C	T	7: 73,943,202	G369S	possibly damaging	Het
Swt1	T	C	1: 151,372,330	Y836C	probably damaging	Het
Taar7d	A	G	10: 24,028,006	D262G	probably benign	Het
Taar8b	T	A	10: 24,091,314	L327F	probably benign	Het
Tars	A	T	15: 11,393,194	L138*	probably null	Het
Tbcd	A	T	11: 121,453,670	D75V	probably damaging	Het
Tesc	A	G	5: 118,046,329	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,440,438	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,580,292	A95S	possibly damaging	Het
Tnr	T	C	1: 159,892,033	I960T	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,543,388	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,366,565		probably benign	Het
Triobp	C	A	15: 79,004,540	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,777,541	I116V	probably benign	Het
Ttc13	A	T	8: 124,672,211		probably null	Het
Usp34	A	T	11: 23,464,468	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,562,551	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,117,345	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,217,793	Y357C	probably damaging	Het
Zc3h6	T	G	2: 129,015,618	S686A	possibly damaging	Het
Zfp608	G	A	18: 54,988,314	P67L	probably benign	Het
Zyg11a	T	C	4: 108,192,047		probably benign	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
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
R7430: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'- CCAAATGTCCTGTATTCTCTGGG -3'
(R):5'- AGCCTATTAAAGCTCGGCCC -3'

Sequencing Primer
(F):5'- TATTCTCTGGGGGAAGAGGAC -3'
(R):5'- CAGAGCGGGGCGATGGAG -3'

Posted On

2014-09-17