Mutagenetix > Incidental Mutation

Incidental Mutation 'R7447:Enpp5'

577407

Institutional Source

Beutler Lab

Gene Symbol

Enpp5

Ensembl Gene

ENSMUSG00000023960

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 5

Synonyms

D17Abb1e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44389704-44397458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44396155 bp (GRCm39)

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	T	15: 76,479,396 (GRCm39)	I484F	possibly damaging	Het
Ago2	A	T	15: 73,009,881 (GRCm39)	N100K	probably benign	Het
Appl1	T	A	14: 26,681,409 (GRCm39)	K130*	probably null	Het
Arhgap39	G	A	15: 76,649,797 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,245,802 (GRCm39)		probably null	Het
Camta1	A	T	4: 151,168,327 (GRCm39)	V1332E	probably benign	Het
Cd3g	A	G	9: 44,884,857 (GRCm39)	L129P	probably damaging	Het
Cd80	T	G	16: 38,294,251 (GRCm39)	S45A	probably benign	Het
Cdk12	A	T	11: 98,136,106 (GRCm39)	Q1120L	unknown	Het
Clip1	G	A	5: 123,791,696 (GRCm39)	S158F	probably benign	Het
Cntn3	C	A	6: 102,255,416 (GRCm39)	E161*	probably null	Het
Cyp3a59	A	C	5: 146,024,215 (GRCm39)	K67T	probably benign	Het
Dmxl1	T	C	18: 49,997,681 (GRCm39)	L623P	probably damaging	Het
Drd3	T	A	16: 43,637,426 (GRCm39)	Y208*	probably null	Het
Dusp10	A	T	1: 183,801,153 (GRCm39)	M307L	probably benign	Het
Dync2li1	A	T	17: 84,955,141 (GRCm39)	I267L	possibly damaging	Het
Dynlt2b	T	A	16: 32,244,089 (GRCm39)	V95E	probably damaging	Het
Edn3	C	A	2: 174,603,544 (GRCm39)	C97*	probably null	Het
Ehbp1l1	T	A	19: 5,769,456 (GRCm39)	T616S	possibly damaging	Het
Eif2a	C	T	3: 58,452,963 (GRCm39)	T246I	probably damaging	Het
Errfi1	A	G	4: 150,951,108 (GRCm39)	T179A	probably damaging	Het
Esyt3	G	A	9: 99,203,615 (GRCm39)	L450F	probably damaging	Het
Evx2	A	G	2: 74,489,448 (GRCm39)	S106P	probably benign	Het
Fam83a	T	G	15: 57,873,086 (GRCm39)	V305G	probably benign	Het
Fem1al	T	C	11: 29,774,122 (GRCm39)	D445G	probably benign	Het
Gpr171	T	A	3: 59,005,860 (GRCm39)		probably null	Het
Grip1	A	G	10: 119,922,871 (GRCm39)	T1106A	probably benign	Het
Hecw1	A	G	13: 14,531,789 (GRCm39)	Y162H	probably damaging	Het
Hephl1	C	T	9: 15,009,178 (GRCm39)		probably null	Het
Hsp90aa1	A	G	12: 110,658,562 (GRCm39)	I693T	possibly damaging	Het
Ifit1bl2	T	A	19: 34,596,974 (GRCm39)	D214V	probably damaging	Het
Igsf10	T	C	3: 59,239,222 (GRCm39)	M320V	probably benign	Het
Kcnq2	A	G	2: 180,754,887 (GRCm39)	L220P	probably damaging	Het
Kpna1	C	A	16: 35,850,009 (GRCm39)	Q372K	probably damaging	Het
Lilrb4a	T	G	10: 51,367,149 (GRCm39)		probably null	Het
Ly75	C	A	2: 60,164,818 (GRCm39)	E787*	probably null	Het
Magi1	T	G	6: 93,722,562 (GRCm39)	S666R	possibly damaging	Het
Mif	C	A	10: 75,695,687 (GRCm39)	A39S	possibly damaging	Het
Mob4	G	A	1: 55,170,625 (GRCm39)		probably benign	Het
Mtmr4	G	T	11: 87,502,727 (GRCm39)	C927F	probably damaging	Het
Myh1	A	G	11: 67,110,006 (GRCm39)	K1398R	probably benign	Het
Myo3a	T	C	2: 22,436,464 (GRCm39)	V873A	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5l	G	A	15: 99,325,357 (GRCm39)	P382L	probably damaging	Het
Ngly1	T	C	14: 16,290,844 (GRCm38)	I442T	probably damaging	Het
Nhsl3	C	A	4: 129,115,835 (GRCm39)	R988L	possibly damaging	Het
Nlrp1a	T	C	11: 70,983,237 (GRCm39)	Y1243C	probably damaging	Het
Or8k53	T	A	2: 86,177,150 (GRCm39)	H320L	possibly damaging	Het
Pcsk5	C	T	19: 17,487,600 (GRCm39)	G1027D	probably benign	Het
Pla2g2c	T	A	4: 138,458,927 (GRCm39)	I11N	probably benign	Het
Polr3d	A	G	14: 70,677,240 (GRCm39)	I331T	probably damaging	Het
Ppp4r4	A	G	12: 103,551,985 (GRCm39)	I293M	possibly damaging	Het
Prkce	G	T	17: 86,866,687 (GRCm39)	V516F	probably damaging	Het
Prss27	T	A	17: 24,264,683 (GRCm39)	L282Q	probably damaging	Het
Pxdn	A	G	12: 30,034,926 (GRCm39)	Y261C	probably damaging	Het
R3hcc1l	T	C	19: 42,551,101 (GRCm39)	S33P	probably benign	Het
Rab11fip3	G	C	17: 26,287,848 (GRCm39)	R102G	possibly damaging	Het
Rabggta	A	T	14: 55,956,773 (GRCm39)	N310K	probably null	Het
Rbbp8	T	A	18: 11,793,934 (GRCm39)	D15E	probably benign	Het
Rbm5	T	C	9: 107,623,378 (GRCm39)	Y486C	probably damaging	Het
Rptor	T	A	11: 119,775,805 (GRCm39)	F992Y	probably benign	Het
Slc29a2	T	G	19: 5,076,445 (GRCm39)	L111R	probably damaging	Het
Slc39a11	T	A	11: 113,452,849 (GRCm39)	I31L	probably benign	Het
Slc6a20a	T	A	9: 123,485,289 (GRCm39)	N311I	possibly damaging	Het
Slc8a1	A	G	17: 81,956,435 (GRCm39)	F201S	probably damaging	Het
Smtn	C	A	11: 3,480,196 (GRCm39)	V342L	probably benign	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tchp	A	G	5: 114,853,716 (GRCm39)	T267A	probably benign	Het
Tes3-ps	A	G	13: 49,647,508 (GRCm39)	E128G	possibly damaging	Het
Tigar	C	T	6: 127,065,129 (GRCm39)	G173E	probably benign	Het
Tmem171	T	C	13: 98,824,862 (GRCm39)	N256S	probably benign	Het
Tmem204	A	G	17: 25,277,270 (GRCm39)	I205T	probably damaging	Het
Tmem63a	A	G	1: 180,785,588 (GRCm39)	K240R	probably benign	Het
Tns2	C	T	15: 102,019,351 (GRCm39)	T446M	probably damaging	Het
Tnxb	A	T	17: 34,937,444 (GRCm39)	N2931I	probably damaging	Het
Trrap	G	T	5: 144,776,284 (GRCm39)	R2941L	probably damaging	Het
Ttc8	A	T	12: 98,910,131 (GRCm39)	R179S	probably damaging	Het
Ttll12	G	T	15: 83,471,176 (GRCm39)	T234N	probably damaging	Het
Ttn	G	T	2: 76,577,576 (GRCm39)	T24439K	probably damaging	Het
Ube2z	A	T	11: 95,946,736 (GRCm39)	I246N	possibly damaging	Het
Usp15	A	G	10: 123,011,786 (GRCm39)	Y104H	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Usp5	G	A	6: 124,798,077 (GRCm39)	A436V	probably damaging	Het
Utp20	A	G	10: 88,608,354 (GRCm39)	L1561S	probably damaging	Het
Xrn1	A	G	9: 95,927,547 (GRCm39)	M1444V	probably benign	Het
Zfp236	G	T	18: 82,651,815 (GRCm39)	Q885K	probably damaging	Het
Zfp831	C	A	2: 174,487,896 (GRCm39)	P857Q	possibly damaging	Het

Other mutations in Enpp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Enpp5	APN	17	44,396,088 (GRCm39)	splice site	probably benign
IGL01593:Enpp5	APN	17	44,391,612 (GRCm39)	missense	probably benign
IGL01654:Enpp5	APN	17	44,392,066 (GRCm39)	missense	possibly damaging	0.82
IGL02120:Enpp5	APN	17	44,391,736 (GRCm39)	missense	probably benign	0.04
IGL02142:Enpp5	APN	17	44,396,468 (GRCm39)	missense	probably benign	0.01
IGL02531:Enpp5	APN	17	44,391,843 (GRCm39)	missense	probably damaging	1.00
IGL02630:Enpp5	APN	17	44,393,766 (GRCm39)	missense	probably damaging	1.00
Cacao	UTSW	17	44,396,467 (GRCm39)	missense	probably benign	0.00
canola	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R1101:Enpp5	UTSW	17	44,392,258 (GRCm39)	missense	possibly damaging	0.77
R2074:Enpp5	UTSW	17	44,396,264 (GRCm39)	missense	probably benign	0.25
R2679:Enpp5	UTSW	17	44,396,279 (GRCm39)	missense	probably damaging	1.00
R4739:Enpp5	UTSW	17	44,392,027 (GRCm39)	missense	probably damaging	1.00
R4817:Enpp5	UTSW	17	44,391,871 (GRCm39)	makesense	probably null
R5152:Enpp5	UTSW	17	44,392,024 (GRCm39)	missense	probably damaging	1.00
R6021:Enpp5	UTSW	17	44,396,210 (GRCm39)	missense	probably benign	0.22
R6160:Enpp5	UTSW	17	44,392,259 (GRCm39)	missense	possibly damaging	0.77
R6330:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6385:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6387:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6452:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6454:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6461:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6462:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6463:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6469:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6470:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6471:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6473:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6505:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6563:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6564:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6760:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6812:Enpp5	UTSW	17	44,396,467 (GRCm39)	missense	probably benign	0.00
R6821:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6824:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6963:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R6965:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7169:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7171:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7375:Enpp5	UTSW	17	44,391,868 (GRCm39)	missense	probably benign	0.02
R7393:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7394:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7411:Enpp5	UTSW	17	44,392,366 (GRCm39)	missense	probably damaging	1.00
R7412:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7446:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7560:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7561:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7589:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7590:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R7591:Enpp5	UTSW	17	44,396,155 (GRCm39)	missense	probably damaging	1.00
R8211:Enpp5	UTSW	17	44,392,402 (GRCm39)	critical splice donor site	probably null
R9256:Enpp5	UTSW	17	44,396,414 (GRCm39)	missense	probably benign	0.00
R9321:Enpp5	UTSW	17	44,393,689 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

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

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

Posted On

2019-10-07