Mutagenetix > Incidental Mutations

Incidental Mutation 'R2057:Enpp1'

228274

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

040062-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R2057 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24637914-24712159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 24660192 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 437 (A437P)

Ref Sequence

ENSEMBL: ENSMUSP00000101159 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000105520
AA Change: A437P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: A437P

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

possibly damaging
Transcript: ENSMUST00000135846
AA Change: A437P

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: A437P

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	G	A	6: 41,032,381	T173I	probably benign	Het
Abcc2	A	G	19: 43,818,038	K764E	probably damaging	Het
Abcg2	T	C	6: 58,690,540	V129A	probably benign	Het
Adgrf5	A	G	17: 43,428,586	Y72C	possibly damaging	Het
Ago1	C	T	4: 126,443,228	R228H	probably damaging	Het
Ano1	A	G	7: 144,648,052	V334A	probably damaging	Het
Apob	A	T	12: 8,002,164	R1202*	probably null	Het
Arfgap3	G	T	15: 83,310,300	D389E	probably benign	Het
Atf6b	A	T	17: 34,648,575		probably null	Het
Atoh8	T	C	6: 72,235,128	K13E	probably damaging	Het
Bicral	G	T	17: 46,824,888	N465K	possibly damaging	Het
Bves	T	A	10: 45,343,135	Y110N	probably damaging	Het
C4b	A	G	17: 34,728,620	Y1695H	probably damaging	Het
Cage1	A	G	13: 38,023,380	V163A	probably benign	Het
Canx	T	C	11: 50,304,425	N272S	probably damaging	Het
Caskin1	G	T	17: 24,496,459	G93V	probably damaging	Het
Cd34	T	C	1: 194,959,142	V292A	probably damaging	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdh16	C	A	8: 104,621,965	G144*	probably null	Het
Chaf1b	T	A	16: 93,894,907	H280Q	probably damaging	Het
Chpf2	G	A	5: 24,591,222	G389R	probably damaging	Het
Crb1	T	C	1: 139,314,750	Y330C	probably damaging	Het
Cux2	A	T	5: 121,869,504	V698E	probably benign	Het
Dhtkd1	A	G	2: 5,942,619	V18A	unknown	Het
Dmbt1	G	A	7: 131,106,170	A1381T	possibly damaging	Het
Fat2	C	T	11: 55,281,860	V2676I	possibly damaging	Het
Fzd2	A	G	11: 102,605,933	D401G	probably damaging	Het
Gcm2	T	C	13: 41,109,954	M1V	probably null	Het
Gnai3	C	T	3: 108,112,496	V233I	probably benign	Het
Golim4	T	A	3: 75,894,887	D366V	possibly damaging	Het
Grin1	T	A	2: 25,316,820	T110S	probably damaging	Het
Grin2a	A	G	16: 9,669,744	V430A	probably benign	Het
Gstp3	G	A	19: 4,059,282	T5I	probably damaging	Het
Il17rb	T	A	14: 29,997,154	M324L	probably benign	Het
Jmy	A	G	13: 93,459,703	Y473H	probably damaging	Het
Khdc1b	A	G	1: 21,384,310	D79G	probably benign	Het
Kremen2	T	C	17: 23,742,717	E272G	possibly damaging	Het
Lmo7	G	C	14: 101,887,178	A358P	probably damaging	Het
Mdh1b	T	C	1: 63,721,582	I107V	probably benign	Het
Mlkl	T	C	8: 111,333,610	Q48R	probably benign	Het
Myh2	G	A	11: 67,188,839		probably null	Het
Naip1	T	A	13: 100,425,573	Q1028L	probably damaging	Het
Ncald	T	A	15: 37,397,179	I86F	possibly damaging	Het
Nid1	A	C	13: 13,500,473	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,557,362	I46K	possibly damaging	Het
Olfr59	A	G	11: 74,288,826	Y60C	probably damaging	Het
Olfr823	A	T	10: 130,111,990	S267T	probably benign	Het
Pak1	T	A	7: 97,907,797		probably null	Het
Parpbp	T	A	10: 88,124,962	M221L	probably benign	Het
Pde12	T	C	14: 26,668,880	I225V	probably benign	Het
Phf19	G	T	2: 34,899,608	R367S	probably benign	Het
Plcl2	A	G	17: 50,668,111		probably null	Het
Plxnb1	A	T	9: 109,109,226	I1283F	possibly damaging	Het
Pramel6	T	A	2: 87,508,715	N86K	possibly damaging	Het
Prkdc	A	G	16: 15,727,605	T1862A	probably benign	Het
Prpf40a	A	T	2: 53,144,839	I779K	probably damaging	Het
Ptpn20	A	T	14: 33,630,985	E227V	probably damaging	Het
Rad54b	C	T	4: 11,606,088	R499C	probably benign	Het
Rarg	C	A	15: 102,239,504	A291S	probably damaging	Het
Rnf169	A	T	7: 99,925,408	L660Q	probably damaging	Het
Scn4a	A	G	11: 106,335,724	V670A	probably damaging	Het
Serpinb9c	A	T	13: 33,156,871	C81*	probably null	Het
Sik1	A	G	17: 31,848,797	S435P	probably benign	Het
Slc35g2	G	A	9: 100,553,276	A114V	probably damaging	Het
Slc7a14	A	T	3: 31,237,496	V211E	probably damaging	Het
Snrpn	A	T	7: 59,987,456	H37Q	possibly damaging	Het
Spock3	T	A	8: 63,245,170	C185*	probably null	Het
Tbc1d4	A	G	14: 101,477,155	S627P	probably damaging	Het
Tgoln1	T	C	6: 72,615,670	T276A	probably benign	Het
Tmem176b	G	A	6: 48,836,333	T64I	probably damaging	Het
Tnpo2	T	C	8: 85,050,113	L483P	probably damaging	Het
Tpte	T	A	8: 22,318,339	D163E	probably benign	Het
Trim36	A	T	18: 46,196,162	D70E	probably benign	Het
Umodl1	G	A	17: 31,008,766		probably null	Het
Wdr90	T	C	17: 25,855,199	T691A	probably benign	Het
Zdhhc8	A	G	16: 18,228,346	S118P	probably damaging	Het
Zfp438	T	C	18: 5,214,085	E291G	probably benign	Het
Zfp879	C	T	11: 50,832,601	E543K	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
R2051:Enpp1	UTSW	10	24711804	critical splice donor site	probably null
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
Z1177:Enpp1	UTSW	10	24661942	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AATAGGTAAATGGCTACCCTCTC -3'
(R):5'- CCTAACTGAAACGTTGTGTCTTATC -3'

Sequencing Primer
(F):5'- AGGTAAATGGCTACCCTCTCTTCAC -3'
(R):5'- GCAGATCTCTGTGAGCTCAAG -3'

Posted On

2014-09-17