Mutagenetix > Incidental Mutation

Incidental Mutation 'R6463:Enpp5'

517710

Institutional Source

Beutler Lab

Gene Symbol

Enpp5

Ensembl Gene

ENSMUSG00000023960

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 5

Synonyms

D17Abb1e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44078813-44086567 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44085264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 356 (G356S)

Ref Sequence

ENSEMBL: ENSMUSP00000122767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024756] [ENSMUST00000126032] [ENSMUST00000154166]

AlphaFold

Q9EQG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000024756
AA Change: G356S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: G356S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	30	342	7.1e-91	PFAM
transmembrane domain	430	452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126032

Predicted Effect

probably damaging
Transcript: ENSMUST00000154166
AA Change: G356S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: G356S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	30	342	2.1e-86	PFAM
transmembrane domain	430	452	N/A	INTRINSIC

Meta Mutation Damage Score

0.9168

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,938	H48L	probably damaging	Het
Aifm3	A	G	16: 17,500,789	I185V	probably benign	Het
Asb7	A	T	7: 66,660,236	D77E	probably damaging	Het
Cacna1i	T	C	15: 80,355,758	I336T	probably damaging	Het
Cadps2	A	T	6: 23,323,334	L1016*	probably null	Het
Ccdc129	A	G	6: 55,968,678	R795G	probably benign	Het
Cep63	C	A	9: 102,596,155	M504I	probably benign	Het
Chpf2	G	T	5: 24,589,526	L231F	probably damaging	Het
Cnot10	T	C	9: 114,625,902	Y221C	probably damaging	Het
Col3a1	G	A	1: 45,342,205		probably benign	Het
Csl	T	C	10: 99,759,098	D35G	probably damaging	Het
Csmd3	T	C	15: 47,676,479	Y2286C	probably damaging	Het
Dbt	A	G	3: 116,539,760	E293G	possibly damaging	Het
Ddx31	T	A	2: 28,847,513		probably null	Het
Dnm1	T	C	2: 32,309,591		probably benign	Het
Elfn1	A	G	5: 139,972,285	Y348C	probably damaging	Het
Epha5	T	A	5: 84,106,710	I657F	probably damaging	Het
Fbp1	A	G	13: 62,865,010	F123S	possibly damaging	Het
Hkdc1	T	C	10: 62,393,702	N732S	probably damaging	Het
Itfg1	A	G	8: 85,736,151	S448P	probably benign	Het
Izumo2	A	G	7: 44,709,074	K84R	probably benign	Het
Kbtbd3	A	G	9: 4,316,921	Y24C	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Mdn1	T	C	4: 32,773,308	L5489P	probably damaging	Het
Mettl2	G	A	11: 105,132,581		probably null	Het
Mtr	T	C	13: 12,216,866	T651A	probably benign	Het
Naglu	A	G	11: 101,077,351		probably null	Het
Nkx6-1	G	T	5: 101,659,476	H347N	probably damaging	Het
Ntpcr	A	G	8: 125,736,104	E20G	probably benign	Het
Oas2	T	C	5: 120,734,981	R670G	probably null	Het
Olfr1208	T	C	2: 88,897,118	I160V	probably benign	Het
Olfr239	G	A	17: 33,199,638	V197I	probably benign	Het
Olfr698	C	G	7: 106,752,801	E196Q	probably benign	Het
Phldb2	A	C	16: 45,774,993	V902G	probably benign	Het
Rdh7	T	C	10: 127,885,781	R209G	probably benign	Het
Slc13a3	A	C	2: 165,445,653	L127R	probably damaging	Het
Slc6a20b	T	A	9: 123,604,949	I275F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tmx4	T	C	2: 134,620,639	Y124C	probably damaging	Het
Trh	A	T	6: 92,242,843	M164K	possibly damaging	Het
Trhr	A	G	15: 44,197,585	N167S	probably benign	Het
Ttll7	G	A	3: 146,931,582	R490Q	possibly damaging	Het
Uck1	T	C	2: 32,258,655	N100S	probably benign	Het
Ucp3	A	T	7: 100,480,269	T104S	probably benign	Het
Vmn2r28	T	A	7: 5,486,436	H468L	probably benign	Het
Xaf1	G	A	11: 72,308,638	R67H	probably benign	Het
Ypel4	T	C	2: 84,736,743		probably benign	Het
Zfp687	A	G	3: 95,010,784	I559T	probably damaging	Het

Other mutations in Enpp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Enpp5	APN	17	44085197	splice site	probably benign
IGL01593:Enpp5	APN	17	44080721	missense	probably benign
IGL01654:Enpp5	APN	17	44081175	missense	possibly damaging	0.82
IGL02120:Enpp5	APN	17	44080845	missense	probably benign	0.04
IGL02142:Enpp5	APN	17	44085577	missense	probably benign	0.01
IGL02531:Enpp5	APN	17	44080952	missense	probably damaging	1.00
IGL02630:Enpp5	APN	17	44082875	missense	probably damaging	1.00
Cacao	UTSW	17	44085576	missense	probably benign	0.00
canola	UTSW	17	44085264	missense	probably damaging	1.00
R1101:Enpp5	UTSW	17	44081367	missense	possibly damaging	0.77
R2074:Enpp5	UTSW	17	44085373	missense	probably benign	0.25
R2679:Enpp5	UTSW	17	44085388	missense	probably damaging	1.00
R4739:Enpp5	UTSW	17	44081136	missense	probably damaging	1.00
R4817:Enpp5	UTSW	17	44080980	makesense	probably null
R5152:Enpp5	UTSW	17	44081133	missense	probably damaging	1.00
R6021:Enpp5	UTSW	17	44085319	missense	probably benign	0.22
R6160:Enpp5	UTSW	17	44081368	missense	possibly damaging	0.77
R6330:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6385:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6387:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6452:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6454:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6461:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6462:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6469:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6470:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6471:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6473:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6505:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6563:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6564:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6760:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6812:Enpp5	UTSW	17	44085576	missense	probably benign	0.00
R6821:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6824:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6963:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R6965:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7169:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7171:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7375:Enpp5	UTSW	17	44080977	missense	probably benign	0.02
R7393:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7394:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7411:Enpp5	UTSW	17	44081475	missense	probably damaging	1.00
R7412:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7446:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7447:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7560:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7561:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7589:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7590:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R7591:Enpp5	UTSW	17	44085264	missense	probably damaging	1.00
R8211:Enpp5	UTSW	17	44081511	critical splice donor site	probably null
R9256:Enpp5	UTSW	17	44085523	missense	probably benign	0.00
R9321:Enpp5	UTSW	17	44082798	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GCCTGTAAGAAAGACGGGTATC -3'
(R):5'- ACTCTGTGTGTAAGGAATTGGC -3'

Sequencing Primer
(F):5'- GACGGGTATCTAGGTAACATTTGAC -3'
(R):5'- CTTGGGAGTTGCTGAACTGAGAAG -3'

Posted On

2018-05-21