Mutagenetix > Incidental Mutation

Incidental Mutation 'R7561:Enpp5'

585159

Institutional Source

Beutler Lab

Gene Symbol

Enpp5

Ensembl Gene

ENSMUSG00000023960

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 5

Synonyms

D17Abb1e

MMRRC Submission

045654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7561 (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: 99.9%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,341,314 (GRCm39)	N314K	probably benign	Het
A430005L14Rik	T	A	4: 154,045,097 (GRCm39)	I80N	probably benign	Het
Abca2	A	G	2: 25,336,707 (GRCm39)	H2271R	probably damaging	Het
Acad8	T	C	9: 26,890,538 (GRCm39)	I257V	probably benign	Het
Acot12	A	T	13: 91,918,243 (GRCm39)	T179S	probably damaging	Het
Adcy10	A	G	1: 165,386,741 (GRCm39)	R1155G	possibly damaging	Het
Adcy9	C	T	16: 4,236,028 (GRCm39)	C461Y	probably damaging	Het
Adgrf1	G	A	17: 43,622,000 (GRCm39)	V746I	possibly damaging	Het
Agbl1	C	A	7: 76,348,509 (GRCm39)	Q869K	unknown	Het
AI837181	T	G	19: 5,476,491 (GRCm39)	V218G	probably damaging	Het
Alg9	T	C	9: 50,754,074 (GRCm39)	S585P	possibly damaging	Het
Arhgef38	T	C	3: 132,866,489 (GRCm39)	Q216R		Het
Asb4	A	T	6: 5,430,968 (GRCm39)	H401L	possibly damaging	Het
Atg7	G	T	6: 114,650,002 (GRCm39)	A60S	possibly damaging	Het
Atp10a	T	A	7: 58,476,881 (GRCm39)	C1199S	probably damaging	Het
Blm	G	A	7: 80,152,276 (GRCm39)	A557V	probably damaging	Het
Cbln1	A	T	8: 88,198,624 (GRCm39)	M82K	probably benign	Het
Ccdc183	T	G	2: 25,501,529 (GRCm39)	I293L	probably benign	Het
Col6a3	A	G	1: 90,703,463 (GRCm39)	S3035P	unknown	Het
Cux2	A	T	5: 122,017,931 (GRCm39)	S206T	probably benign	Het
Cyfip2	T	C	11: 46,161,425 (GRCm39)	D355G	probably benign	Het
Dhrs2	A	G	14: 55,474,698 (GRCm39)	H111R	probably benign	Het
Eif3b	T	G	5: 140,428,109 (GRCm39)	D781E	probably benign	Het
Fermt1	A	T	2: 132,758,008 (GRCm39)	I469N	probably benign	Het
Fgf20	G	T	8: 40,732,975 (GRCm39)	N154K	possibly damaging	Het
Fndc10	T	A	4: 155,779,328 (GRCm39)	V124E	probably damaging	Het
Fra10ac1	T	C	19: 38,210,324 (GRCm39)	D13G	probably damaging	Het
Gpatch1	A	G	7: 35,008,800 (GRCm39)	S74P	probably damaging	Het
Gramd1b	G	A	9: 40,312,911 (GRCm39)	T19I	unknown	Het
Grm8	T	C	6: 27,429,524 (GRCm39)	T457A	probably benign	Het
Gucy2g	C	A	19: 55,194,772 (GRCm39)	V882L	probably benign	Het
Hectd4	G	A	5: 121,429,288 (GRCm39)	R811H	possibly damaging	Het
Hk1	C	T	10: 62,116,807 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il10ra	T	A	9: 45,167,117 (GRCm39)	D480V	probably benign	Het
Il18rap	A	T	1: 40,563,537 (GRCm39)	H22L	probably benign	Het
Inpp5a	T	A	7: 139,147,338 (GRCm39)	I321N	probably damaging	Het
Insyn1	A	G	9: 58,406,687 (GRCm39)	D199G	probably damaging	Het
Kat2b	T	G	17: 53,948,286 (GRCm39)	L352R	probably benign	Het
Katnip	C	T	7: 125,441,894 (GRCm39)	S627L	probably benign	Het
Kcna1	A	T	6: 126,619,108 (GRCm39)	V404E	probably damaging	Het
Mcm3ap	T	A	10: 76,328,712 (GRCm39)	V1110E	possibly damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Mpdz	A	T	4: 81,225,388 (GRCm39)	N1368K	probably damaging	Het
Mpzl3	G	T	9: 44,966,610 (GRCm39)	V24F	probably benign	Het
Mybph	G	A	1: 134,121,465 (GRCm39)		probably null	Het
Ncam1	G	T	9: 49,476,242 (GRCm39)	D282E	probably damaging	Het
Ntrk2	G	A	13: 59,009,202 (GRCm39)	C331Y	probably benign	Het
Nwd2	T	A	5: 63,964,434 (GRCm39)	C1339*	probably null	Het
Or3a1d	T	C	11: 74,238,436 (GRCm39)		probably benign	Het
Or5b98	T	C	19: 12,931,403 (GRCm39)	V150A	probably benign	Het
Or8k33	T	C	2: 86,383,661 (GRCm39)	D269G	probably benign	Het
Osbpl6	C	A	2: 76,416,498 (GRCm39)	T672N	probably damaging	Het
Pds5b	T	C	5: 150,662,783 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,217 (GRCm39)	N587S	probably benign	Het
Pex7	A	T	10: 19,770,012 (GRCm39)	C165*	probably null	Het
Pik3r4	A	G	9: 105,564,446 (GRCm39)	T1347A	possibly damaging	Het
Pitpnm3	T	C	11: 71,942,008 (GRCm39)	D933G	probably benign	Het
Rnf213	T	A	11: 119,332,545 (GRCm39)	F2586I		Het
Scn10a	A	G	9: 119,523,390 (GRCm39)	M1T	probably null	Het
Sdhaf3	T	A	6: 6,956,079 (GRCm39)	L18Q	not run	Het
Septin7	A	G	9: 25,209,151 (GRCm39)	E256G	possibly damaging	Het
Slc35b2	A	G	17: 45,877,727 (GRCm39)	T236A	probably damaging	Het
Slc4a4	G	A	5: 89,347,556 (GRCm39)	G766R	probably damaging	Het
Slco6c1	G	T	1: 97,000,691 (GRCm39)	S537Y	probably damaging	Het
Srp68	T	C	11: 116,139,593 (GRCm39)	E452G	probably damaging	Het
Taf2	A	T	15: 54,919,229 (GRCm39)	M382K	probably benign	Het
Tas2r131	A	G	6: 132,933,921 (GRCm39)	L296P	probably benign	Het
Tlr9	A	G	9: 106,103,148 (GRCm39)	E813G	probably benign	Het
Trmt44	T	C	5: 35,715,336 (GRCm39)	E659G	possibly damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Unc45a	G	T	7: 79,981,334 (GRCm39)	S489R	possibly damaging	Het
Xrn1	T	C	9: 95,881,511 (GRCm39)	V795A	probably benign	Het
Zbtb22	A	T	17: 34,136,952 (GRCm39)	T366S	probably benign	Het
Zcchc10	T	A	11: 53,215,545 (GRCm39)	H6Q	probably benign	Het
Zfp60	A	G	7: 27,447,955 (GRCm39)	K208E	probably damaging	Het
Zfp780b	A	T	7: 27,664,037 (GRCm39)	C173S	possibly damaging	Het
Zfp786	C	A	6: 47,796,667 (GRCm39)	R757L	probably benign	Het
Zfp936	G	A	7: 42,839,339 (GRCm39)	A269T	probably damaging	Het
Zfp976	T	C	7: 42,265,701 (GRCm39)	Y29C	probably 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
R7447: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
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

2019-10-17