Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Enpp1'

43943

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

038692-MU

Accession Numbers

Essential gene?

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

Stock #

R0496 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

24637914-24712159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24672052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 208 (H208Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101159 (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: H208Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046090
Gene: ENSMUSG00000037370
AA Change: H208Q

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: H208Q

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: H208Q

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: H208Q

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: H208Q

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: ENSMUST00000142974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150570

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,244 (GRCm38)	K1065E	probably damaging	Het
4932438A13Rik	A	G	3: 36,987,635 (GRCm38)	T2721A	probably damaging	Het
4933402N03Rik	T	C	7: 131,146,131 (GRCm38)	N44S	probably benign	Het
Abca13	A	G	11: 9,291,701 (GRCm38)	D1188G	probably benign	Het
Abcb11	C	T	2: 69,277,884 (GRCm38)		probably benign	Het
Abcc8	A	T	7: 46,108,820 (GRCm38)	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,341,198 (GRCm38)	C827Y	probably damaging	Het
Agap3	T	A	5: 24,501,243 (GRCm38)	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,473,041 (GRCm38)	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,472,938 (GRCm38)		probably benign	Het
Arhgef40	A	T	14: 52,004,907 (GRCm38)		probably benign	Het
Atad5	A	G	11: 80,100,356 (GRCm38)	I692V	probably benign	Het
Atp5b	G	T	10: 128,086,174 (GRCm38)	R310L	possibly damaging	Het
AY358078	A	T	14: 51,803,532 (GRCm38)	M103L	unknown	Het
Bcl9l	T	G	9: 44,509,518 (GRCm38)	V1370G	probably benign	Het
Bglap3	T	A	3: 88,369,137 (GRCm38)	Q38L	probably damaging	Het
Cd38	T	C	5: 43,868,891 (GRCm38)	F6L	probably damaging	Het
Cela3a	A	C	4: 137,404,468 (GRCm38)	V138G	probably damaging	Het
Clvs1	T	A	4: 9,424,241 (GRCm38)	I229N	probably damaging	Het
Cpne1	G	A	2: 156,079,419 (GRCm38)	H16Y	probably damaging	Het
Ctc1	T	C	11: 69,035,507 (GRCm38)	L1069P	probably damaging	Het
Ctgf	G	T	10: 24,597,515 (GRCm38)	M317I	possibly damaging	Het
Dgkd	G	A	1: 87,936,900 (GRCm38)	S996N	probably null	Het
Dnah9	A	T	11: 66,075,135 (GRCm38)	M1685K	probably null	Het
Dnajb12	C	T	10: 59,879,801 (GRCm38)	R42*	probably null	Het
Dock5	T	C	14: 67,817,518 (GRCm38)	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180 (GRCm38)	M868T	probably benign	Het
Epha7	T	A	4: 28,821,292 (GRCm38)	D152E	probably damaging	Het
Fancd2	T	C	6: 113,555,130 (GRCm38)		probably benign	Het
Gart	G	A	16: 91,623,037 (GRCm38)		probably benign	Het
Gm10964	A	T	3: 103,739,429 (GRCm38)		probably null	Het
Gm7075	G	T	10: 63,421,602 (GRCm38)	C46*	probably null	Het
Gpbar1	T	C	1: 74,278,981 (GRCm38)	F128L	probably benign	Het
Gsx2	T	A	5: 75,077,065 (GRCm38)	M226K	probably benign	Het
Gucd1	T	C	10: 75,511,266 (GRCm38)	D50G	possibly damaging	Het
Has1	A	G	17: 17,843,746 (GRCm38)	Y544H	probably benign	Het
Hc	A	T	2: 35,013,571 (GRCm38)	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,260,635 (GRCm38)		probably null	Het
Ift122	T	A	6: 115,905,902 (GRCm38)	H659Q	probably benign	Het
Itga2	T	C	13: 114,853,899 (GRCm38)	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,434,701 (GRCm38)	K181E	possibly damaging	Het
Jak3	A	T	8: 71,682,397 (GRCm38)	H558L	probably damaging	Het
Kcnh8	A	G	17: 52,725,858 (GRCm38)	T58A	probably benign	Het
Klhl6	GT	G	16: 19,956,966 (GRCm38)	279	probably null	Het
Krt33a	C	T	11: 100,012,329 (GRCm38)		probably benign	Het
Magi2	A	T	5: 20,661,359 (GRCm38)		probably benign	Het
Map4	G	A	9: 110,039,850 (GRCm38)		probably benign	Het
Map4k4	T	A	1: 40,006,822 (GRCm38)	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 24,914,450 (GRCm38)		probably benign	Het
Mib1	A	G	18: 10,804,773 (GRCm38)	S918G	probably benign	Het
Mipol1	T	A	12: 57,457,177 (GRCm38)	V377D	probably damaging	Het
Mlh1	T	C	9: 111,241,556 (GRCm38)	T364A	probably benign	Het
Mta1	C	T	12: 113,131,321 (GRCm38)	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,090,006 (GRCm38)	R806G	probably benign	Het
Myh13	C	A	11: 67,348,815 (GRCm38)	N730K	probably damaging	Het
Myom1	A	G	17: 71,084,306 (GRCm38)	K937E	probably damaging	Het
Naxd	T	C	8: 11,510,224 (GRCm38)		probably benign	Het
Negr1	G	T	3: 157,016,267 (GRCm38)	K159N	probably damaging	Het
Nwd2	G	T	5: 63,806,343 (GRCm38)	W1090L	probably damaging	Het
Olfr1170	A	T	2: 88,224,155 (GRCm38)	Y292*	probably null	Het
Olfr137	A	G	17: 38,304,658 (GRCm38)	S268P	probably damaging	Het
Olfr397	T	C	11: 73,964,880 (GRCm38)	S91P	probably benign	Het
Olfr584	T	C	7: 103,085,590 (GRCm38)	I19T	probably damaging	Het
Olfr620	C	T	7: 103,611,997 (GRCm38)	A119T	probably benign	Het
Pcsk6	G	A	7: 65,927,249 (GRCm38)	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,150,570 (GRCm38)	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,568,714 (GRCm38)	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,929,430 (GRCm38)	H474N	probably damaging	Het
Pltp	A	G	2: 164,852,461 (GRCm38)		probably benign	Het
Qtrt1	C	T	9: 21,419,548 (GRCm38)	T324M	probably benign	Het
Racgap1	A	T	15: 99,639,832 (GRCm38)		probably benign	Het
Rhbg	A	G	3: 88,254,498 (GRCm38)	V50A	probably benign	Het
Rnf135	G	A	11: 80,183,950 (GRCm38)	V12M	probably damaging	Het
Rufy2	T	C	10: 62,993,170 (GRCm38)	V117A	probably damaging	Het
Safb	A	G	17: 56,605,630 (GRCm38)	M866V	probably benign	Het
Slc35c2	G	T	2: 165,280,815 (GRCm38)	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,029,538 (GRCm38)	L377P	probably damaging	Het
Slit1	G	A	19: 41,608,311 (GRCm38)		probably benign	Het
Spaca9	G	A	2: 28,693,010 (GRCm38)	H133Y	probably damaging	Het
Spout1	A	G	2: 30,174,971 (GRCm38)	F339S	probably benign	Het
St6gal2	A	G	17: 55,482,014 (GRCm38)	I16M	probably damaging	Het
Stat2	T	C	10: 128,276,509 (GRCm38)	M6T	probably benign	Het
Swt1	T	A	1: 151,411,270 (GRCm38)	H157L	probably benign	Het
Syne2	A	G	12: 76,038,940 (GRCm38)	N147D	possibly damaging	Het
Tmem2	A	T	19: 21,797,345 (GRCm38)	N117I	possibly damaging	Het
Tmem222	A	T	4: 133,277,591 (GRCm38)	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,777,285 (GRCm38)	H95L	probably damaging	Het
Tns3	A	C	11: 8,547,262 (GRCm38)		probably benign	Het
Trpm3	A	G	19: 22,698,778 (GRCm38)	I103V	probably benign	Het
Ube2n	T	C	10: 95,541,344 (GRCm38)	F57S	probably benign	Het
Vil1	T	C	1: 74,421,340 (GRCm38)	S219P	possibly damaging	Het
Wdfy4	A	G	14: 33,140,738 (GRCm38)		probably benign	Het
Wdr7	T	C	18: 63,791,843 (GRCm38)	S966P	probably benign	Het
Wnt8a	A	G	18: 34,544,847 (GRCm38)	N103D	probably damaging	Het
Zfp523	G	A	17: 28,200,445 (GRCm38)	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,109,980 (GRCm38)	D418E	probably benign	Het
Zscan20	A	G	4: 128,591,889 (GRCm38)	V192A	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
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
R2051:Enpp1	UTSW	10	24,711,804 (GRCm38)	critical splice donor site	probably null
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'- GTTCACCGCTTTGCAATGGAGAAG -3'
(R):5'- AGGCACCATCTACTGAAGGAGAGAC -3'

Sequencing Primer
(F):5'- GTTTGGTAAAACAGTGAGACGC -3'
(R):5'- GCTGACCTCAATGAGAAACCTTC -3'

Posted On

2013-05-29