Mutagenetix > Incidental Mutation

Incidental Mutation 'R3713:Enpp7'

259763

Institutional Source

Beutler Lab

Gene Symbol

Enpp7

Ensembl Gene

ENSMUSG00000046697

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 7

Synonyms

Alk-SMase, LOC238011

MMRRC Submission

040706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118879014-118884047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118881344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 163 (Y163C)

Ref Sequence

ENSEMBL: ENSMUSP00000101880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092373] [ENSMUST00000106273]

AlphaFold

Q3TIW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000092373
AA Change: Y163C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090027
Gene: ENSMUSG00000046697
AA Change: Y163C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Phosphodiest	30	353	2.5e-76	PFAM
Pfam:Metalloenzyme	43	272	8.7e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106273
AA Change: Y163C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101880
Gene: ENSMUSG00000046697
AA Change: Y163C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Phosphodiest	30	353	3e-77	PFAM
Pfam:Metalloenzyme	41	257	5.2e-10	PFAM

Meta Mutation Damage Score

0.2701

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit intestinal epithelium hypertrophy, decreased crypt and villi width, and impaired sphingomyelin digestion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
Aak1	T	A	6: 86,932,172 (GRCm39)	I381N	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adgrf2	A	G	17: 43,023,979 (GRCm39)	V164A	probably damaging	Het
Ahdc1	G	A	4: 132,793,297 (GRCm39)	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,235,929 (GRCm39)	M168T	probably damaging	Het
Aox1	C	T	1: 58,095,374 (GRCm39)	T196I	probably benign	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,495,102 (GRCm39)	E1042G	possibly damaging	Het
Azi2	A	G	9: 117,876,508 (GRCm39)	D8G	possibly damaging	Het
Bcam	T	C	7: 19,498,118 (GRCm39)	T302A	probably benign	Het
Cct6b	A	T	11: 82,651,183 (GRCm39)	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,493,263 (GRCm39)	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,735,221 (GRCm39)	L819P	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Chd2	A	G	7: 73,121,538 (GRCm39)		probably benign	Het
Col7a1	G	T	9: 108,793,508 (GRCm39)	G1357*	probably null	Het
Cux1	A	G	5: 136,594,397 (GRCm39)		probably benign	Het
Cwh43	A	T	5: 73,595,835 (GRCm39)	I535F	probably damaging	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dnah12	T	C	14: 26,534,747 (GRCm39)	V2081A	probably benign	Het
Efcab5	A	T	11: 77,007,008 (GRCm39)	L872Q	probably damaging	Het
Fam221a	T	C	6: 49,349,548 (GRCm39)	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,122,186 (GRCm39)	M1T	probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Galp	A	T	7: 6,216,836 (GRCm39)	D72V	probably damaging	Het
Gm9843	A	G	16: 76,200,419 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,732,076 (GRCm39)	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,344,776 (GRCm39)	Y437S	probably benign	Het
Macc1	A	G	12: 119,410,576 (GRCm39)	E448G	probably benign	Het
Madcam1	A	G	10: 79,504,194 (GRCm39)	H404R	probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Mroh3	T	C	1: 136,113,714 (GRCm39)	T692A	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Naip2	A	G	13: 100,298,410 (GRCm39)	F542S	probably damaging	Het
Napsa	A	G	7: 44,230,852 (GRCm39)	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Neil1	A	T	9: 57,054,254 (GRCm39)	V22E	probably damaging	Het
Nol4	T	C	18: 23,172,994 (GRCm39)	I36V	probably damaging	Het
Nprl3	G	A	11: 32,205,464 (GRCm39)	T111I	probably damaging	Het
Or12k8	A	G	2: 36,975,517 (GRCm39)	M81T	possibly damaging	Het
Or1e26	A	T	11: 73,479,731 (GRCm39)	Y278N	probably damaging	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Pald1	G	A	10: 61,178,144 (GRCm39)	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,576,786 (GRCm39)	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,840,976 (GRCm39)	V232A	probably damaging	Het
Pde6b	A	G	5: 108,570,928 (GRCm39)	I388V	probably damaging	Het
Phactr2	C	A	10: 13,264,476 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,885,477 (GRCm39)	D56G	probably damaging	Het
Ptprh	A	T	7: 4,574,969 (GRCm39)	I350N	probably damaging	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Reln	A	G	5: 22,109,732 (GRCm39)	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,771,847 (GRCm39)	G59S	possibly damaging	Het
Rsph6a	G	A	7: 18,791,475 (GRCm39)	V215M	probably damaging	Het
Smcp	T	C	3: 92,491,431 (GRCm39)	K139E	unknown	Het
Stag1	A	G	9: 100,771,671 (GRCm39)	T699A	probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tle1	G	T	4: 72,044,659 (GRCm39)	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 11,910,139 (GRCm39)	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,077,648 (GRCm39)	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,600,880 (GRCm39)	M292T	probably benign	Het
Zfp108	T	A	7: 23,961,270 (GRCm39)	C620*	probably null	Het
Zscan4b	T	C	7: 10,635,818 (GRCm39)	T170A	probably benign	Het

Other mutations in Enpp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Enpp7	APN	11	118,881,371 (GRCm39)	missense	probably damaging	1.00
IGL02488:Enpp7	APN	11	118,879,640 (GRCm39)	missense	probably damaging	1.00
IGL02672:Enpp7	APN	11	118,883,166 (GRCm39)	critical splice donor site	probably null
R0465:Enpp7	UTSW	11	118,879,607 (GRCm39)	missense	probably damaging	1.00
R1718:Enpp7	UTSW	11	118,881,809 (GRCm39)	missense	probably damaging	1.00
R2208:Enpp7	UTSW	11	118,879,588 (GRCm39)	splice site	probably benign
R2970:Enpp7	UTSW	11	118,881,472 (GRCm39)	missense	probably damaging	1.00
R3967:Enpp7	UTSW	11	118,881,827 (GRCm39)	missense	probably damaging	0.99
R5222:Enpp7	UTSW	11	118,881,788 (GRCm39)	missense	probably benign	0.03
R5454:Enpp7	UTSW	11	118,879,634 (GRCm39)	missense	probably benign	0.03
R5577:Enpp7	UTSW	11	118,882,953 (GRCm39)	missense	probably benign	0.01
R7361:Enpp7	UTSW	11	118,882,985 (GRCm39)	missense	probably benign	0.02
R8855:Enpp7	UTSW	11	118,879,191 (GRCm39)	missense	possibly damaging	0.50
R9048:Enpp7	UTSW	11	118,881,455 (GRCm39)	missense	probably damaging	1.00
R9731:Enpp7	UTSW	11	118,879,151 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTGCCCCAATCTGTAAGAG -3'
(R):5'- TAGCCCACAGTCCTGTCTAC -3'

Sequencing Primer
(F):5'- TTGCCCCAATCTGTAAGAGAGGATC -3'
(R):5'- ACAGTCCTGTCTACCTGCTTCAC -3'

Posted On

2015-01-23