Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Enpp1'

638323

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

067706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24637914-24712159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24674656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 174 (E174D)

Ref Sequence

ENSEMBL: ENSMUSP00000114273 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039882
AA Change: E174D

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046090
Gene: ENSMUSG00000037370
AA Change: E174D

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

possibly damaging
Transcript: ENSMUST00000105520
AA Change: E174D

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: E174D

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: E174D

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: E174D

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: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,806,086	P65S	probably damaging	Het
Adcy3	A	T	12: 4,200,935	R565W	probably damaging	Het
Arl14	A	T	3: 69,222,535	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,192,238	E39G	possibly damaging	Het
Aven	C	T	2: 112,559,775	R8W	probably benign	Het
Axl	C	T	7: 25,763,954	D633N	probably benign	Het
Boc	A	T	16: 44,520,437	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,804,097	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,612,148	A238V	probably damaging	Het
Ccndbp1	A	G	2: 121,008,584		probably benign	Het
Ccr9	A	G	9: 123,779,631	Y126C	probably damaging	Het
Cdhr1	T	C	14: 37,082,780	N491S	probably benign	Het
Celsr2	C	T	3: 108,396,455	G2429D	probably damaging	Het
Cts6	T	C	13: 61,201,643	T84A	probably damaging	Het
Dcpp2	T	C	17: 23,899,410		probably null	Het
Drosha	A	G	15: 12,890,501	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,391,906	Q133R	probably benign	Het
Esrrb	A	G	12: 86,421,958	H15R	probably benign	Het
Fbxl12	T	C	9: 20,638,721	T213A	probably benign	Het
Fnbp4	C	A	2: 90,746,771	T149K	probably damaging	Het
Foxj1	A	T	11: 116,334,067	F158Y	probably benign	Het
Frrs1	A	G	3: 116,878,303	T17A	probably benign	Het
Gm10110	C	T	14: 89,898,241	V76M	noncoding transcript	Het
Hnrnpl	T	C	7: 28,814,272	V220A		Het
Iars2	T	A	1: 185,288,091	R949*	probably null	Het
Ice1	T	C	13: 70,604,430	E1179G	probably damaging	Het
Mast4	A	G	13: 102,758,669	L782P	probably damaging	Het
Mcmdc2	A	C	1: 9,934,038	K581T	possibly damaging	Het
Men1	A	T	19: 6,336,818	D186V	probably damaging	Het
Morc2b	T	G	17: 33,136,701	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,464,717	L89P	probably damaging	Het
Naip1	C	T	13: 100,427,187	G490E	probably damaging	Het
Ntm	T	C	9: 29,012,212	Y224C	probably damaging	Het
Nup88	A	T	11: 70,958,340	D262E	probably benign	Het
Olfr1113	T	C	2: 87,213,339	V149A	probably benign	Het
Olfr630	T	A	7: 103,754,812	I258L	possibly damaging	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Oscp1	A	G	4: 126,086,600	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,807,641	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,610,722	F388I	probably benign	Het
Pgm2l1	C	G	7: 100,253,253	A136G	probably benign	Het
Phf14	T	G	6: 11,987,637	D638E	probably benign	Het
Pnpla7	A	G	2: 25,050,923	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,600,725	C586*	probably null	Het
Rnf187	T	A	11: 58,938,415	R124W	probably damaging	Het
RP24-77E13.10	T	C	7: 7,241,902	Y11C	possibly damaging	Het
Sema3a	T	C	5: 13,400,063	Y36H	probably damaging	Het
Setd7	T	G	3: 51,521,375	S345R	probably benign	Het
Sgms1	T	C	19: 32,159,635	D177G	probably damaging	Het
Snx19	T	C	9: 30,463,226	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Sorl1	T	C	9: 42,030,998	D977G	probably damaging	Het
Sptan1	C	T	2: 29,980,200	R121W	probably damaging	Het
Srgap2	T	C	1: 131,364,033	D152G	probably damaging	Het
Suclg2	T	A	6: 95,497,719		probably null	Het
Tacc2	T	C	7: 130,625,304	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,836,909	A68V	probably benign	Het
Tex14	G	A	11: 87,474,415	D62N	probably damaging	Het
Thyn1	C	T	9: 27,006,859	T181I	probably benign	Het
Trio	T	A	15: 27,756,542	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,498,728	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,840,806	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,611,991	Y750N	probably damaging	Het
Wif1	G	A	10: 121,096,047	S292N	probably benign	Het
Xpo6	T	G	7: 126,128,249	Q528H	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
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
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'- TACCACAGTCCTCTGGAGAACC -3'
(R):5'- TTTCGAGACAGAACAGCTCTC -3'

Sequencing Primer
(F):5'- CAGCAGCAAACACAGTCTGGTG -3'
(R):5'- AGAACAGCTCTCTATATTCACGG -3'

Posted On

2020-07-28