Mutagenetix > Incidental Mutation

Incidental Mutation 'R4272:Enpp4'

377814

Institutional Source

Beutler Lab

Gene Symbol

Enpp4

Ensembl Gene

ENSMUSG00000023961

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 4

Synonyms

LOC224794, 4933413N07Rik

MMRRC Submission

041644-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R4272 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44407199-44416700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44412698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 279 (N279D)

Ref Sequence

ENSEMBL: ENSMUSP00000114429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024757] [ENSMUST00000143137]

AlphaFold

Q8BTJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000024757
AA Change: N279D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: N279D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143137
AA Change: N279D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: N279D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	5.7e-80	PFAM

Meta Mutation Damage Score

0.0695

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Ago3	T	A	4: 126,248,884 (GRCm39)	T556S	possibly damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arl5b	A	G	2: 15,077,990 (GRCm39)	E105G	probably damaging	Het
Capza3	A	G	6: 139,988,264 (GRCm39)	I288V	probably benign	Het
Chka	G	A	19: 3,925,737 (GRCm39)		probably benign	Het
Cnpy4	G	T	5: 138,190,853 (GRCm39)	V159F	probably damaging	Het
Crb1	T	C	1: 139,251,049 (GRCm39)	I301V	probably benign	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlec1	C	T	9: 118,972,231 (GRCm39)	A1417V	probably damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dync1li2	A	G	8: 105,149,775 (GRCm39)	S411P	probably damaging	Het
Efnb2	T	A	8: 8,670,698 (GRCm39)	S301C	probably damaging	Het
Exoc3	A	G	13: 74,340,763 (GRCm39)	V347A	probably damaging	Het
Ezh1	A	G	11: 101,085,734 (GRCm39)	F641S	probably damaging	Het
Gcgr	T	A	11: 120,429,250 (GRCm39)		probably benign	Het
Gm4887	G	T	7: 104,470,535 (GRCm39)		noncoding transcript	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Htt	G	A	5: 35,006,413 (GRCm39)	V1441I	possibly damaging	Het
Ift70a1	A	G	2: 75,810,818 (GRCm39)	Y422H	probably damaging	Het
Lmtk2	A	G	5: 144,120,044 (GRCm39)	M1398V	probably benign	Het
Lrrc15	T	C	16: 30,092,673 (GRCm39)	N222S	probably benign	Het
Mctp2	A	T	7: 71,909,079 (GRCm39)	V78E	possibly damaging	Het
Medag	A	G	5: 149,345,628 (GRCm39)	Y103C	probably damaging	Het
Mphosph9	G	A	5: 124,442,266 (GRCm39)	P361S	probably damaging	Het
Npffr2	G	A	5: 89,715,882 (GRCm39)	V70M	probably damaging	Het
Obox3-ps8	A	C	17: 36,763,909 (GRCm39)		noncoding transcript	Het
Or4c117	A	G	2: 88,955,706 (GRCm39)	V123A	probably damaging	Het
Pdgfra	G	A	5: 75,343,731 (GRCm39)	V751I	probably benign	Het
Phykpl	T	C	11: 51,476,355 (GRCm39)	L25P	probably damaging	Het
Rgl1	A	T	1: 152,412,040 (GRCm39)	I443N	probably benign	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rragd	T	C	4: 32,996,099 (GRCm39)		probably null	Het
Rtcb	A	T	10: 85,793,483 (GRCm39)	M30K	probably damaging	Het
Rusc2	T	A	4: 43,415,533 (GRCm39)	C280S	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp2	C	A	15: 9,116,947 (GRCm39)		probably null	Het
Slc52a3	T	A	2: 151,847,660 (GRCm39)	I256N	possibly damaging	Het
Sycp2	A	T	2: 178,000,017 (GRCm39)	D986E	probably benign	Het
Tas1r1	T	C	4: 152,116,614 (GRCm39)	E340G	possibly damaging	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Trhr	G	A	15: 44,060,620 (GRCm39)	V47I	probably damaging	Het
Trpm2	A	T	10: 77,769,476 (GRCm39)	N749K	probably damaging	Het
Ttc27	T	A	17: 75,147,355 (GRCm39)	W636R	probably damaging	Het
Ttn	C	A	2: 76,608,691 (GRCm39)	R17775L	probably damaging	Het
Vmn2r55	A	G	7: 12,402,106 (GRCm39)	F394S	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zyx	A	G	6: 42,327,880 (GRCm39)	D70G	probably damaging	Het

Other mutations in Enpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Enpp4	APN	17	44,410,494 (GRCm39)	missense	possibly damaging	0.56
IGL02150:Enpp4	APN	17	44,413,049 (GRCm39)	missense	probably benign	0.22
IGL02451:Enpp4	APN	17	44,412,315 (GRCm39)	missense	probably damaging	1.00
IGL02879:Enpp4	APN	17	44,412,841 (GRCm39)	missense	probably benign	0.00
R0005:Enpp4	UTSW	17	44,413,066 (GRCm39)	missense	probably benign	0.04
R0540:Enpp4	UTSW	17	44,410,386 (GRCm39)	missense	probably damaging	1.00
R0607:Enpp4	UTSW	17	44,410,386 (GRCm39)	missense	probably damaging	1.00
R0942:Enpp4	UTSW	17	44,412,772 (GRCm39)	nonsense	probably null
R1334:Enpp4	UTSW	17	44,413,259 (GRCm39)	missense	probably benign	0.02
R1632:Enpp4	UTSW	17	44,410,544 (GRCm39)	missense	probably damaging	0.99
R2567:Enpp4	UTSW	17	44,412,736 (GRCm39)	missense	probably damaging	0.97
R4273:Enpp4	UTSW	17	44,412,698 (GRCm39)	missense	probably benign	0.01
R4750:Enpp4	UTSW	17	44,413,246 (GRCm39)	missense	probably damaging	1.00
R6267:Enpp4	UTSW	17	44,413,371 (GRCm39)	missense	probably benign	0.00
R6296:Enpp4	UTSW	17	44,413,371 (GRCm39)	missense	probably benign	0.00
R7180:Enpp4	UTSW	17	44,412,928 (GRCm39)	missense	probably benign	0.03
R8036:Enpp4	UTSW	17	44,413,136 (GRCm39)	missense	possibly damaging	0.81
R8135:Enpp4	UTSW	17	44,412,226 (GRCm39)	missense	probably benign	0.00
R9168:Enpp4	UTSW	17	44,413,141 (GRCm39)	missense	probably damaging	0.99
R9209:Enpp4	UTSW	17	44,412,252 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACAGTGTCACAGATGGGCAC -3'
(R):5'- ACATGCGCCGGGTATTGAAAG -3'

Sequencing Primer
(F):5'- TGGGCACTTGGAATAACCC -3'
(R):5'- GGTGATATTGTCCTAAAGCTCAAGG -3'

Posted On

2016-04-07