Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:Enpp3'

38935

Institutional Source

Beutler Lab

Gene Symbol

Enpp3

Ensembl Gene

ENSMUSG00000019989

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Synonyms

CD203c

MMRRC Submission

038635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R0433 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

24649712-24712093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24696495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 147 (S147P)

Ref Sequence

ENSEMBL: ENSMUSP00000151393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000218044] [ENSMUST00000219342] [ENSMUST00000219968] [ENSMUST00000220209]

AlphaFold

Q6DYE8

Predicted Effect

probably benign
Transcript: ENSMUST00000020169
AA Change: S147P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: S147P

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
SO	50	93	1.99e-13	SMART
SO	94	137	7.66e-15	SMART
Pfam:Phosphodiest	161	485	1.7e-87	PFAM
Blast:Endonuclease_NS	543	599	9e-15	BLAST
Endonuclease_NS	626	847	5.41e-16	SMART
NUC	627	856	1.54e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217903

Predicted Effect

probably benign
Transcript: ENSMUST00000218044
AA Change: S147P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218619

Predicted Effect

probably benign
Transcript: ENSMUST00000219342

Predicted Effect

probably benign
Transcript: ENSMUST00000219968

Predicted Effect

probably benign
Transcript: ENSMUST00000220209

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit increased numbers of basophils and mast cells with increased susceptibility to chronic allergic responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
C7	G	T	15: 5,018,398 (GRCm39)	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col4a3	C	T	1: 82,647,940 (GRCm39)	P484S	unknown	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,727,246 (GRCm39)	K530R	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,486 (GRCm39)	V150I	probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Nr1h2	A	G	7: 44,199,411 (GRCm39)	*365Q	probably null	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,742 (GRCm39)	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slmap	A	T	14: 26,174,749 (GRCm39)	L161*	probably null	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		probably benign	Het

Other mutations in Enpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Enpp3	APN	10	24,663,670 (GRCm39)	missense	probably benign	0.00
IGL00778:Enpp3	APN	10	24,674,160 (GRCm39)	missense	probably damaging	1.00
IGL01147:Enpp3	APN	10	24,650,805 (GRCm39)	missense	probably damaging	1.00
IGL01343:Enpp3	APN	10	24,681,820 (GRCm39)	nonsense	probably null
IGL01642:Enpp3	APN	10	24,674,167 (GRCm39)	missense	probably damaging	1.00
IGL01814:Enpp3	APN	10	24,667,923 (GRCm39)	missense	possibly damaging	0.68
IGL02083:Enpp3	APN	10	24,652,692 (GRCm39)	missense	probably damaging	1.00
IGL02152:Enpp3	APN	10	24,649,900 (GRCm39)	missense	probably damaging	1.00
IGL02186:Enpp3	APN	10	24,667,881 (GRCm39)	splice site	probably benign
IGL02517:Enpp3	APN	10	24,685,746 (GRCm39)	splice site	probably benign
IGL02956:Enpp3	APN	10	24,650,841 (GRCm39)	splice site	probably benign
R0017:Enpp3	UTSW	10	24,675,051 (GRCm39)	splice site	probably null
R0042:Enpp3	UTSW	10	24,650,722 (GRCm39)	missense	probably damaging	1.00
R0110:Enpp3	UTSW	10	24,652,679 (GRCm39)	missense	probably damaging	1.00
R0218:Enpp3	UTSW	10	24,652,767 (GRCm39)	missense	possibly damaging	0.80
R0403:Enpp3	UTSW	10	24,680,334 (GRCm39)	missense	probably damaging	1.00
R0450:Enpp3	UTSW	10	24,652,679 (GRCm39)	missense	probably damaging	1.00
R0510:Enpp3	UTSW	10	24,652,679 (GRCm39)	missense	probably damaging	1.00
R0826:Enpp3	UTSW	10	24,671,614 (GRCm39)	missense	probably damaging	1.00
R1245:Enpp3	UTSW	10	24,660,851 (GRCm39)	splice site	probably benign
R1261:Enpp3	UTSW	10	24,650,832 (GRCm39)	missense	probably damaging	0.97
R1633:Enpp3	UTSW	10	24,671,680 (GRCm39)	missense	probably damaging	1.00
R1903:Enpp3	UTSW	10	24,654,687 (GRCm39)	missense	probably damaging	1.00
R1913:Enpp3	UTSW	10	24,652,669 (GRCm39)	nonsense	probably null
R1966:Enpp3	UTSW	10	24,683,389 (GRCm39)	missense	probably damaging	0.99
R2157:Enpp3	UTSW	10	24,652,776 (GRCm39)	missense	probably damaging	1.00
R2179:Enpp3	UTSW	10	24,681,793 (GRCm39)	missense	probably benign	0.00
R2380:Enpp3	UTSW	10	24,652,770 (GRCm39)	missense	probably benign
R2410:Enpp3	UTSW	10	24,650,716 (GRCm39)	missense	probably benign	0.00
R3794:Enpp3	UTSW	10	24,707,630 (GRCm39)	splice site	probably null
R3896:Enpp3	UTSW	10	24,653,847 (GRCm39)	missense	possibly damaging	0.79
R4334:Enpp3	UTSW	10	24,669,487 (GRCm39)	missense	probably damaging	1.00
R4569:Enpp3	UTSW	10	24,652,780 (GRCm39)	missense	probably damaging	1.00
R4766:Enpp3	UTSW	10	24,649,825 (GRCm39)	missense	probably damaging	1.00
R4951:Enpp3	UTSW	10	24,674,175 (GRCm39)	missense	probably damaging	1.00
R4998:Enpp3	UTSW	10	24,683,436 (GRCm39)	missense	probably benign	0.01
R5045:Enpp3	UTSW	10	24,652,665 (GRCm39)	missense	probably damaging	1.00
R5276:Enpp3	UTSW	10	24,685,814 (GRCm39)	missense	probably damaging	1.00
R5331:Enpp3	UTSW	10	24,684,058 (GRCm39)	missense	probably damaging	1.00
R5569:Enpp3	UTSW	10	24,654,719 (GRCm39)	missense	probably damaging	0.98
R5975:Enpp3	UTSW	10	24,650,740 (GRCm39)	missense	probably benign	0.37
R6117:Enpp3	UTSW	10	24,663,750 (GRCm39)	missense	probably damaging	1.00
R6419:Enpp3	UTSW	10	24,684,089 (GRCm39)	missense	probably damaging	1.00
R6677:Enpp3	UTSW	10	24,653,855 (GRCm39)	missense	possibly damaging	0.88
R6735:Enpp3	UTSW	10	24,683,351 (GRCm39)	missense	probably damaging	1.00
R6833:Enpp3	UTSW	10	24,685,768 (GRCm39)	missense	probably damaging	1.00
R6999:Enpp3	UTSW	10	24,684,064 (GRCm39)	missense	probably damaging	1.00
R7022:Enpp3	UTSW	10	24,702,093 (GRCm39)	missense	probably damaging	0.99
R7173:Enpp3	UTSW	10	24,649,945 (GRCm39)	missense	probably damaging	1.00
R7224:Enpp3	UTSW	10	24,652,782 (GRCm39)	missense	possibly damaging	0.63
R7227:Enpp3	UTSW	10	24,693,742 (GRCm39)	missense	unknown
R7487:Enpp3	UTSW	10	24,681,821 (GRCm39)	missense	probably benign	0.02
R7529:Enpp3	UTSW	10	24,674,072 (GRCm39)	missense	probably damaging	0.97
R7583:Enpp3	UTSW	10	24,711,990 (GRCm39)	start codon destroyed	probably null	0.83
R7692:Enpp3	UTSW	10	24,660,739 (GRCm39)	nonsense	probably null
R7962:Enpp3	UTSW	10	24,660,752 (GRCm39)	missense	probably damaging	1.00
R7965:Enpp3	UTSW	10	24,654,717 (GRCm39)	missense	possibly damaging	0.90
R8153:Enpp3	UTSW	10	24,685,777 (GRCm39)	missense	probably damaging	1.00
R8262:Enpp3	UTSW	10	24,653,824 (GRCm39)	missense	probably damaging	1.00
R8305:Enpp3	UTSW	10	24,700,827 (GRCm39)	critical splice acceptor site	probably null
R8393:Enpp3	UTSW	10	24,702,139 (GRCm39)	missense	probably damaging	1.00
R8776:Enpp3	UTSW	10	24,650,733 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Enpp3	UTSW	10	24,650,733 (GRCm39)	missense	probably damaging	1.00
R8962:Enpp3	UTSW	10	24,696,513 (GRCm39)	missense	probably benign	0.12
R9047:Enpp3	UTSW	10	24,674,172 (GRCm39)	missense	possibly damaging	0.83
R9093:Enpp3	UTSW	10	24,671,702 (GRCm39)	missense	probably benign	0.00
R9117:Enpp3	UTSW	10	24,702,078 (GRCm39)	missense	possibly damaging	0.67
R9194:Enpp3	UTSW	10	24,675,092 (GRCm39)	missense	possibly damaging	0.90
R9224:Enpp3	UTSW	10	24,650,716 (GRCm39)	missense	probably benign	0.00
R9244:Enpp3	UTSW	10	24,654,689 (GRCm39)	missense	probably damaging	1.00
R9387:Enpp3	UTSW	10	24,711,990 (GRCm39)	start codon destroyed	probably null	0.83
R9644:Enpp3	UTSW	10	24,685,801 (GRCm39)	missense	probably damaging	0.98
R9658:Enpp3	UTSW	10	24,649,802 (GRCm39)	makesense	probably null
X0026:Enpp3	UTSW	10	24,702,140 (GRCm39)	missense	probably damaging	1.00
Z1176:Enpp3	UTSW	10	24,663,691 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCTGTTGACTGTGAATCCACAAG -3'
(R):5'- TTTCTGGATGGAATGGCTTCCCTTC -3'

Sequencing Primer
(F):5'- TCCACAAGGAGTCTGAACTTCTG -3'
(R):5'- CCCTTGTCACTATGTGAGATAGAGC -3'

Posted On

2013-05-23