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

Essential gene?

Possibly non essential (E-score: 0.322) 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 (GRCm38)	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,711,048 (GRCm38)	K10N	possibly damaging	Het
Aadat	T	A	8: 60,507,139 (GRCm38)	S40T	probably benign	Het
Abca13	A	G	11: 9,328,098 (GRCm38)	I3093V	probably benign	Het
Acacb	A	T	5: 114,245,890 (GRCm38)	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,168,017 (GRCm38)	S189I	probably benign	Het
Actr5	A	T	2: 158,632,293 (GRCm38)	M339L	probably benign	Het
Adcy1	A	T	11: 7,161,885 (GRCm38)	K917*	probably null	Het
Adgrg5	C	T	8: 94,942,067 (GRCm38)	R504C	probably benign	Het
Ago1	T	C	4: 126,460,453 (GRCm38)	H188R	probably benign	Het
Akap9	T	A	5: 3,975,685 (GRCm38)	C23*	probably null	Het
Ank3	T	C	10: 69,898,090 (GRCm38)	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,454,493 (GRCm38)	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,981,860 (GRCm38)	R84H	probably benign	Het
Arhgef10	A	G	8: 14,945,320 (GRCm38)	D7G	probably null	Het
Arid4b	A	G	13: 14,187,645 (GRCm38)	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,691,849 (GRCm38)	N727S	probably benign	Het
Baalc	G	T	15: 38,933,234 (GRCm38)		probably benign	Het
Cdc25c	G	C	18: 34,738,239 (GRCm38)	L275V	probably damaging	Het
Chpf2	G	T	5: 24,591,276 (GRCm38)	V407L	probably benign	Het
Chrnb3	C	A	8: 27,386,811 (GRCm38)	N84K	probably damaging	Het
Cnot1	A	G	8: 95,724,593 (GRCm38)	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,621,993 (GRCm38)		probably null	Het
Cux1	T	A	5: 136,332,658 (GRCm38)	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,082,231 (GRCm38)	N286S	probably benign	Het
Dclre1b	T	C	3: 103,809,040 (GRCm38)	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,411,484 (GRCm38)	S221P	probably benign	Het
Dnah1	T	G	14: 31,279,123 (GRCm38)	T2422P	probably damaging	Het
Erbb2	T	C	11: 98,420,172 (GRCm38)	C53R	probably damaging	Het
Exoc8	A	G	8: 124,895,480 (GRCm38)	V716A	probably benign	Het
Fam193a	T	A	5: 34,462,150 (GRCm38)	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,132 (GRCm38)	G310W	probably damaging	Het
Fcgbp	C	T	7: 28,120,360 (GRCm38)	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,757,532 (GRCm38)	P418L	probably benign	Het
Gjd2	T	C	2: 114,011,058 (GRCm38)	T313A	probably damaging	Het
Gm12695	T	A	4: 96,769,771 (GRCm38)	R54W	probably damaging	Het
Gm128	T	C	3: 95,240,740 (GRCm38)	D81G	possibly damaging	Het
Gm21834	A	G	17: 57,741,768 (GRCm38)	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,586,152 (GRCm38)		probably null	Het
Hcn1	C	T	13: 117,976,083 (GRCm38)	T861I	probably damaging	Het
Herc6	C	A	6: 57,625,976 (GRCm38)	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,120,167 (GRCm38)	L699P	probably damaging	Het
Kank4	T	C	4: 98,780,102 (GRCm38)	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,142,209 (GRCm38)	S295T	probably damaging	Het
Krt18	T	C	15: 102,029,500 (GRCm38)	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,949,204 (GRCm38)	I244V	unknown	Het
Leng1	T	G	7: 3,665,401 (GRCm38)	N16T	probably damaging	Het
Lss	A	G	10: 76,531,878 (GRCm38)	K15E	possibly damaging	Het
Mastl	G	T	2: 23,132,824 (GRCm38)	A629E	possibly damaging	Het
Mavs	G	C	2: 131,240,450 (GRCm38)	A85P	possibly damaging	Het
Nav3	T	C	10: 109,824,675 (GRCm38)	D678G	probably damaging	Het
Nsd3	T	G	8: 25,691,089 (GRCm38)	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,503,082 (GRCm38)	N118S	probably damaging	Het
Nup205	T	A	6: 35,230,516 (GRCm38)	M1501K	probably benign	Het
Olfr1178	C	T	2: 88,391,538 (GRCm38)	T97M	possibly damaging	Het
Olfr429	T	A	1: 174,089,219 (GRCm38)	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,436,508 (GRCm38)	S281P	probably benign	Het
Pds5b	T	G	5: 150,748,190 (GRCm38)	I433R	probably damaging	Het
Peg3	T	C	7: 6,712,721 (GRCm38)	N117D	probably damaging	Het
Pfkm	A	T	15: 98,131,692 (GRCm38)	D728V	probably benign	Het
Phkb	T	C	8: 86,049,821 (GRCm38)		probably null	Het
Pkp4	T	C	2: 59,334,904 (GRCm38)	V704A	probably benign	Het
Ppfia2	T	A	10: 106,837,299 (GRCm38)	S501T	probably damaging	Het
Ptpru	T	C	4: 131,819,087 (GRCm38)	E284G	possibly damaging	Het
Ror1	C	T	4: 100,407,868 (GRCm38)	R180*	probably null	Het
Ryr3	T	A	2: 112,756,641 (GRCm38)	Y2666F	probably damaging	Het
Sec23a	C	A	12: 58,990,968 (GRCm38)		probably null	Het
Sertad3	C	T	7: 27,476,269 (GRCm38)	Q43*	probably null	Het
Setd2	C	T	9: 110,550,890 (GRCm38)	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,348,207 (GRCm38)	S177P	probably benign	Het
Skap1	T	C	11: 96,541,463 (GRCm38)	F86S	possibly damaging	Het
Slc8a2	T	C	7: 16,141,015 (GRCm38)	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,726,437 (GRCm38)	F329S	probably damaging	Het
Slx4ip	C	T	2: 137,066,205 (GRCm38)	L161F	possibly damaging	Het
Sox4	A	G	13: 28,952,781 (GRCm38)	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,970,264 (GRCm38)	S28R	probably benign	Het
St8sia2	C	T	7: 73,943,202 (GRCm38)	G369S	possibly damaging	Het
Swt1	T	C	1: 151,372,330 (GRCm38)	Y836C	probably damaging	Het
Taar7d	A	G	10: 24,028,006 (GRCm38)	D262G	probably benign	Het
Taar8b	T	A	10: 24,091,314 (GRCm38)	L327F	probably benign	Het
Tars	A	T	15: 11,393,194 (GRCm38)	L138*	probably null	Het
Tbcd	A	T	11: 121,453,670 (GRCm38)	D75V	probably damaging	Het
Tesc	A	G	5: 118,046,329 (GRCm38)	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,440,438 (GRCm38)	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,580,292 (GRCm38)	A95S	possibly damaging	Het
Tnr	T	C	1: 159,892,033 (GRCm38)	I960T	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,543,388 (GRCm38)	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,366,565 (GRCm38)		probably benign	Het
Triobp	C	A	15: 79,004,540 (GRCm38)	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,777,541 (GRCm38)	I116V	probably benign	Het
Ttc13	A	T	8: 124,672,211 (GRCm38)		probably null	Het
Usp34	A	T	11: 23,464,468 (GRCm38)	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,562,551 (GRCm38)	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,117,345 (GRCm38)	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,217,793 (GRCm38)	Y357C	probably damaging	Het
Zc3h6	T	G	2: 129,015,618 (GRCm38)	S686A	possibly damaging	Het
Zfp608	G	A	18: 54,988,314 (GRCm38)	P67L	probably benign	Het
Zyg11a	T	C	4: 108,192,047 (GRCm38)		probably benign	Het

Other mutations in Enpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Enpp1	APN	10	24,645,427 (GRCm38)	missense	possibly damaging	0.93
IGL00966:Enpp1	APN	10	24,654,031 (GRCm38)	missense	probably damaging	1.00
IGL01364:Enpp1	APN	10	24,664,614 (GRCm38)	missense	probably damaging	1.00
IGL02040:Enpp1	APN	10	24,655,856 (GRCm38)	missense	probably damaging	1.00
IGL02143:Enpp1	APN	10	24,677,974 (GRCm38)	missense	probably damaging	1.00
IGL02631:Enpp1	APN	10	24,641,961 (GRCm38)	missense	probably damaging	1.00
IGL02655:Enpp1	APN	10	24,677,974 (GRCm38)	missense	probably damaging	1.00
IGL02677:Enpp1	APN	10	24,679,185 (GRCm38)	splice site	probably benign
IGL02691:Enpp1	APN	10	24,711,892 (GRCm38)	missense	probably damaging	0.99
IGL02966:Enpp1	APN	10	24,660,274 (GRCm38)	missense	probably damaging	1.00
IGL03087:Enpp1	APN	10	24,655,881 (GRCm38)	splice site	probably benign
IGL03330:Enpp1	APN	10	24,664,906 (GRCm38)	splice site	probably benign
IGL03365:Enpp1	APN	10	24,669,025 (GRCm38)	missense	probably damaging	1.00
IGL03377:Enpp1	APN	10	24,660,283 (GRCm38)	critical splice acceptor site	probably null
PIT4651001:Enpp1	UTSW	10	24,653,950 (GRCm38)	missense	probably benign	0.16
R0011:Enpp1	UTSW	10	24,670,002 (GRCm38)	nonsense	probably null
R0201:Enpp1	UTSW	10	24,653,917 (GRCm38)	missense	probably benign	0.00
R0496:Enpp1	UTSW	10	24,672,052 (GRCm38)	missense	probably benign	0.18
R1228:Enpp1	UTSW	10	24,645,412 (GRCm38)	missense	probably benign	0.30
R1536:Enpp1	UTSW	10	24,641,834 (GRCm38)	missense	probably benign	0.27
R1927:Enpp1	UTSW	10	24,654,888 (GRCm38)	missense	possibly damaging	0.65
R2057:Enpp1	UTSW	10	24,660,192 (GRCm38)	missense	probably damaging	0.98
R2353:Enpp1	UTSW	10	24,651,341 (GRCm38)	missense	probably benign	0.24
R4077:Enpp1	UTSW	10	24,669,007 (GRCm38)	critical splice donor site	probably null
R4079:Enpp1	UTSW	10	24,669,007 (GRCm38)	critical splice donor site	probably null
R4739:Enpp1	UTSW	10	24,679,248 (GRCm38)	missense	probably null	0.99
R4740:Enpp1	UTSW	10	24,679,248 (GRCm38)	missense	probably null	0.99
R4761:Enpp1	UTSW	10	24,641,951 (GRCm38)	missense	possibly damaging	0.94
R4822:Enpp1	UTSW	10	24,661,935 (GRCm38)	missense	possibly damaging	0.74
R4919:Enpp1	UTSW	10	24,648,085 (GRCm38)	missense	probably benign	0.01
R5140:Enpp1	UTSW	10	24,652,852 (GRCm38)	missense	possibly damaging	0.51
R5302:Enpp1	UTSW	10	24,651,390 (GRCm38)	missense	probably benign
R5421:Enpp1	UTSW	10	24,669,757 (GRCm38)	missense	probably damaging	1.00
R5695:Enpp1	UTSW	10	24,654,908 (GRCm38)	missense	probably damaging	0.99
R5735:Enpp1	UTSW	10	24,654,919 (GRCm38)	missense	possibly damaging	0.92
R5789:Enpp1	UTSW	10	24,647,239 (GRCm38)	missense	probably benign
R5942:Enpp1	UTSW	10	24,676,068 (GRCm38)	nonsense	probably null
R6048:Enpp1	UTSW	10	24,660,254 (GRCm38)	missense	probably damaging	1.00
R6053:Enpp1	UTSW	10	24,657,126 (GRCm38)	missense	possibly damaging	0.93
R6305:Enpp1	UTSW	10	24,641,882 (GRCm38)	missense	probably damaging	1.00
R6319:Enpp1	UTSW	10	24,648,031 (GRCm38)	missense	probably damaging	1.00
R6624:Enpp1	UTSW	10	24,669,755 (GRCm38)	nonsense	probably null
R6793:Enpp1	UTSW	10	24,655,825 (GRCm38)	missense	probably damaging	1.00
R6936:Enpp1	UTSW	10	24,651,339 (GRCm38)	missense	probably benign	0.30
R7255:Enpp1	UTSW	10	24,645,315 (GRCm38)	missense	possibly damaging	0.95
R7285:Enpp1	UTSW	10	24,660,161 (GRCm38)	missense	probably benign	0.01
R7401:Enpp1	UTSW	10	24,645,282 (GRCm38)	missense	probably damaging	1.00
R7429:Enpp1	UTSW	10	24,711,950 (GRCm38)	missense	probably benign	0.00
R7430:Enpp1	UTSW	10	24,711,950 (GRCm38)	missense	probably benign	0.00
R7526:Enpp1	UTSW	10	24,674,410 (GRCm38)	splice site	probably null
R7532:Enpp1	UTSW	10	24,675,987 (GRCm38)	missense	probably benign	0.29
R7789:Enpp1	UTSW	10	24,654,083 (GRCm38)	splice site	probably null
R8073:Enpp1	UTSW	10	24,679,244 (GRCm38)	missense	possibly damaging	0.50
R8283:Enpp1	UTSW	10	24,674,656 (GRCm38)	missense	probably benign	0.25
R8955:Enpp1	UTSW	10	24,669,028 (GRCm38)	missense	probably benign	0.01
R9494:Enpp1	UTSW	10	24,651,336 (GRCm38)	missense	probably benign
Z1177:Enpp1	UTSW	10	24,661,942 (GRCm38)	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