Mutagenetix > Incidental Mutation

Incidental Mutation 'R4822:Enpp1'

371223

Institutional Source

Beutler Lab

Gene Symbol

Enpp1

Ensembl Gene

ENSMUSG00000037370

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 1

Synonyms

PC-1, E-NPP1, Npps, Pca, Pdnp1, CD203c, twy, NPP1, 4833416E15Rik, Pca-1, Ly-41

MMRRC Submission

042438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R4822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24513812-24588057 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24537833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 384 (M384K)

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

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

possibly damaging
Transcript: ENSMUST00000105520
AA Change: M384K

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: M384K

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: M384K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: M384K

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

Meta Mutation Damage Score

0.1405

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	C	T	14: 70,393,907 (GRCm39)	V243I	probably benign	Het
Acadvl	C	T	11: 69,902,010 (GRCm39)	G485S	probably benign	Het
Acap3	T	A	4: 155,986,908 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,023,356 (GRCm39)	I250M	probably damaging	Het
Amacr	T	A	15: 10,983,496 (GRCm39)	I102N	probably damaging	Het
Apob	A	G	12: 8,065,741 (GRCm39)	T4237A	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bicd1	A	T	6: 149,420,752 (GRCm39)		probably benign	Het
Caskin2	T	A	11: 115,698,125 (GRCm39)	E49V	probably damaging	Het
Cemip	T	A	7: 83,622,449 (GRCm39)	I577F	probably benign	Het
Chrnb1	T	C	11: 69,686,501 (GRCm39)	S40G	possibly damaging	Het
Ctif	C	T	18: 75,654,632 (GRCm39)	C298Y	probably benign	Het
Cul9	A	C	17: 46,840,977 (GRCm39)	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839 (GRCm39)	C763S	probably damaging	Het
Dhx57	A	T	17: 80,549,596 (GRCm39)		probably null	Het
Dnaaf10	T	A	11: 17,177,165 (GRCm39)	N174K	probably damaging	Het
Dnhd1	G	A	7: 105,353,171 (GRCm39)	D2775N	probably benign	Het
Fat2	T	C	11: 55,202,144 (GRCm39)	N310S	probably benign	Het
Fbxw7	A	T	3: 84,874,814 (GRCm39)	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,740,423 (GRCm39)	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Gm5592	A	G	7: 40,805,314 (GRCm39)		probably benign	Het
Gm5745	T	C	9: 73,082,980 (GRCm39)		noncoding transcript	Het
Gm6185	G	C	1: 161,040,824 (GRCm39)		noncoding transcript	Het
Hid1	T	A	11: 115,246,125 (GRCm39)	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,209,569 (GRCm39)	F68I	probably damaging	Het
Ift88	T	A	14: 57,679,326 (GRCm39)		probably null	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Ighv7-2	A	C	12: 113,875,892 (GRCm39)	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,574,596 (GRCm39)	V703L	possibly damaging	Het
Kiz	C	A	2: 146,732,989 (GRCm39)	S388R	probably damaging	Het
Klhl20	G	A	1: 160,921,333 (GRCm39)	Q41*	probably null	Het
Krt31	T	C	11: 99,938,610 (GRCm39)	I328V	possibly damaging	Het
Lama4	A	T	10: 38,909,049 (GRCm39)	I330L	probably benign	Het
Lipo2	A	T	19: 33,723,151 (GRCm39)	S213T	probably benign	Het
Lrsam1	A	T	2: 32,816,804 (GRCm39)	I723N	probably damaging	Het
Man2b2	G	A	5: 36,972,865 (GRCm39)	R550W	probably damaging	Het
Map4k5	A	T	12: 69,888,758 (GRCm39)	L224*	probably null	Het
Mast3	A	G	8: 71,233,010 (GRCm39)	S1101P	probably damaging	Het
Mertk	A	G	2: 128,643,225 (GRCm39)	S875G	probably benign	Het
Mmel1	A	G	4: 154,972,354 (GRCm39)	M302V	probably benign	Het
Mrgpra3	T	A	7: 47,239,716 (GRCm39)	H70L	possibly damaging	Het
Myh3	T	A	11: 66,979,836 (GRCm39)	S592T	probably benign	Het
Nbeal2	T	C	9: 110,465,383 (GRCm39)	I451V	possibly damaging	Het
Nup155	T	A	15: 8,158,010 (GRCm39)	V489D	possibly damaging	Het
Obscn	T	A	11: 58,913,159 (GRCm39)	T6300S	probably benign	Het
Oprm1	A	G	10: 6,779,036 (GRCm39)	I146V	probably damaging	Het
Or1ad1	T	A	11: 50,875,910 (GRCm39)	C127*	probably null	Het
Or1j4	A	G	2: 36,740,888 (GRCm39)	M277V	probably benign	Het
Or4k44	G	T	2: 111,367,797 (GRCm39)	T279K	probably damaging	Het
Or5ae1	A	C	7: 84,565,634 (GRCm39)	I216L	possibly damaging	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pik3ca	T	C	3: 32,492,131 (GRCm39)	V243A	probably benign	Het
Pla2g12b	G	A	10: 59,252,336 (GRCm39)		probably null	Het
Plekha8	A	G	6: 54,601,546 (GRCm39)	D321G	probably damaging	Het
Pprc1	T	C	19: 46,059,795 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,773,441 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,821,161 (GRCm39)	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,507 (GRCm39)		noncoding transcript	Het
Ryr3	A	T	2: 112,483,090 (GRCm39)	I4219N	probably damaging	Het
Sbf2	G	A	7: 109,977,146 (GRCm39)		probably benign	Het
Scn10a	C	T	9: 119,467,738 (GRCm39)	A801T	probably damaging	Het
Scn9a	T	A	2: 66,314,093 (GRCm39)	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,328,727 (GRCm39)	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,504,214 (GRCm39)	T619M	possibly damaging	Het
Sh2b3	C	A	5: 121,966,618 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,837,413 (GRCm39)	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,452,085 (GRCm39)	I326T	possibly damaging	Het
Smarca5	T	C	8: 81,435,309 (GRCm39)		probably null	Het
Smarcd2	A	G	11: 106,157,357 (GRCm39)		probably null	Het
Snrpa1	A	T	7: 65,719,321 (GRCm39)		probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Stard9	T	G	2: 120,526,422 (GRCm39)	V893G	possibly damaging	Het
Stx8	T	G	11: 67,864,099 (GRCm39)	V53G	possibly damaging	Het
Sv2c	A	T	13: 96,122,457 (GRCm39)	W440R	probably damaging	Het
Tcstv2a	A	T	13: 120,725,686 (GRCm39)	T117S	probably damaging	Het
Tmem181a	A	T	17: 6,330,940 (GRCm39)	I67F	probably benign	Het
Tmprss7	C	T	16: 45,483,679 (GRCm39)	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,516,561 (GRCm39)	L109H	probably damaging	Het
Trpv4	A	G	5: 114,768,083 (GRCm39)	I422T	possibly damaging	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,507,202 (GRCm39)	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,321,938 (GRCm39)	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,041,960 (GRCm39)	I252F	probably damaging	Het
Vsig8	A	G	1: 172,387,205 (GRCm39)	D27G	probably damaging	Het
Wiz	A	T	17: 32,575,411 (GRCm39)	Y908*	probably null	Het
Wnk1	A	T	6: 119,939,399 (GRCm39)	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp691	G	T	4: 119,027,764 (GRCm39)	T156K	probably damaging	Het
Zfp791	A	T	8: 85,837,035 (GRCm39)	D276E	probably benign	Het

Other mutations in Enpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Enpp1	APN	10	24,521,325 (GRCm39)	missense	possibly damaging	0.93
IGL00966:Enpp1	APN	10	24,529,929 (GRCm39)	missense	probably damaging	1.00
IGL01364:Enpp1	APN	10	24,540,512 (GRCm39)	missense	probably damaging	1.00
IGL02040:Enpp1	APN	10	24,531,754 (GRCm39)	missense	probably damaging	1.00
IGL02143:Enpp1	APN	10	24,553,872 (GRCm39)	missense	probably damaging	1.00
IGL02631:Enpp1	APN	10	24,517,859 (GRCm39)	missense	probably damaging	1.00
IGL02655:Enpp1	APN	10	24,553,872 (GRCm39)	missense	probably damaging	1.00
IGL02677:Enpp1	APN	10	24,555,083 (GRCm39)	splice site	probably benign
IGL02691:Enpp1	APN	10	24,587,790 (GRCm39)	missense	probably damaging	0.99
IGL02966:Enpp1	APN	10	24,536,172 (GRCm39)	missense	probably damaging	1.00
IGL03087:Enpp1	APN	10	24,531,779 (GRCm39)	splice site	probably benign
IGL03330:Enpp1	APN	10	24,540,804 (GRCm39)	splice site	probably benign
IGL03365:Enpp1	APN	10	24,544,923 (GRCm39)	missense	probably damaging	1.00
IGL03377:Enpp1	APN	10	24,536,181 (GRCm39)	critical splice acceptor site	probably null
PIT4651001:Enpp1	UTSW	10	24,529,848 (GRCm39)	missense	probably benign	0.16
R0011:Enpp1	UTSW	10	24,545,900 (GRCm39)	nonsense	probably null
R0201:Enpp1	UTSW	10	24,529,815 (GRCm39)	missense	probably benign	0.00
R0496:Enpp1	UTSW	10	24,547,950 (GRCm39)	missense	probably benign	0.18
R1228:Enpp1	UTSW	10	24,521,310 (GRCm39)	missense	probably benign	0.30
R1536:Enpp1	UTSW	10	24,517,732 (GRCm39)	missense	probably benign	0.27
R1927:Enpp1	UTSW	10	24,530,786 (GRCm39)	missense	possibly damaging	0.65
R2051:Enpp1	UTSW	10	24,587,702 (GRCm39)	critical splice donor site	probably null
R2057:Enpp1	UTSW	10	24,536,090 (GRCm39)	missense	probably damaging	0.98
R2353:Enpp1	UTSW	10	24,527,239 (GRCm39)	missense	probably benign	0.24
R4077:Enpp1	UTSW	10	24,544,905 (GRCm39)	critical splice donor site	probably null
R4079:Enpp1	UTSW	10	24,544,905 (GRCm39)	critical splice donor site	probably null
R4739:Enpp1	UTSW	10	24,555,146 (GRCm39)	missense	probably null	0.99
R4740:Enpp1	UTSW	10	24,555,146 (GRCm39)	missense	probably null	0.99
R4761:Enpp1	UTSW	10	24,517,849 (GRCm39)	missense	possibly damaging	0.94
R4919:Enpp1	UTSW	10	24,523,983 (GRCm39)	missense	probably benign	0.01
R5140:Enpp1	UTSW	10	24,528,750 (GRCm39)	missense	possibly damaging	0.51
R5302:Enpp1	UTSW	10	24,527,288 (GRCm39)	missense	probably benign
R5421:Enpp1	UTSW	10	24,545,655 (GRCm39)	missense	probably damaging	1.00
R5695:Enpp1	UTSW	10	24,530,806 (GRCm39)	missense	probably damaging	0.99
R5735:Enpp1	UTSW	10	24,530,817 (GRCm39)	missense	possibly damaging	0.92
R5789:Enpp1	UTSW	10	24,523,137 (GRCm39)	missense	probably benign
R5942:Enpp1	UTSW	10	24,551,966 (GRCm39)	nonsense	probably null
R6048:Enpp1	UTSW	10	24,536,152 (GRCm39)	missense	probably damaging	1.00
R6053:Enpp1	UTSW	10	24,533,024 (GRCm39)	missense	possibly damaging	0.93
R6305:Enpp1	UTSW	10	24,517,780 (GRCm39)	missense	probably damaging	1.00
R6319:Enpp1	UTSW	10	24,523,929 (GRCm39)	missense	probably damaging	1.00
R6624:Enpp1	UTSW	10	24,545,653 (GRCm39)	nonsense	probably null
R6793:Enpp1	UTSW	10	24,531,723 (GRCm39)	missense	probably damaging	1.00
R6936:Enpp1	UTSW	10	24,527,237 (GRCm39)	missense	probably benign	0.30
R7255:Enpp1	UTSW	10	24,521,213 (GRCm39)	missense	possibly damaging	0.95
R7285:Enpp1	UTSW	10	24,536,059 (GRCm39)	missense	probably benign	0.01
R7401:Enpp1	UTSW	10	24,521,180 (GRCm39)	missense	probably damaging	1.00
R7429:Enpp1	UTSW	10	24,587,848 (GRCm39)	missense	probably benign	0.00
R7430:Enpp1	UTSW	10	24,587,848 (GRCm39)	missense	probably benign	0.00
R7526:Enpp1	UTSW	10	24,550,308 (GRCm39)	splice site	probably null
R7532:Enpp1	UTSW	10	24,551,885 (GRCm39)	missense	probably benign	0.29
R7789:Enpp1	UTSW	10	24,529,981 (GRCm39)	splice site	probably null
R8073:Enpp1	UTSW	10	24,555,142 (GRCm39)	missense	possibly damaging	0.50
R8283:Enpp1	UTSW	10	24,550,554 (GRCm39)	missense	probably benign	0.25
R8955:Enpp1	UTSW	10	24,544,926 (GRCm39)	missense	probably benign	0.01
R9494:Enpp1	UTSW	10	24,527,234 (GRCm39)	missense	probably benign
Z1177:Enpp1	UTSW	10	24,537,840 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGCTGGCCATATCCACAAATTTC -3'
(R):5'- GCTTATCAATGTTTCAATGGCCCC -3'

Sequencing Primer
(F):5'- GCAAAAAGCTTTATCTACAACCCTC -3'
(R):5'- AATGTTTCAATGGCCCCTTCCC -3'

Posted On

2016-03-01