Mutagenetix > Incidental Mutation

Incidental Mutation 'R5152:Enpp5'

395476

Institutional Source

Beutler Lab

Gene Symbol

Enpp5

Ensembl Gene

ENSMUSG00000023960

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 5

Synonyms

D17Abb1e

MMRRC Submission

042734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44389704-44397458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44392024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 151 (P151L)

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: P151L

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

SMART Domains

Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: P151L

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: P151L

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

SMART Domains

Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: P151L

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

0.5163

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

99% (83/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,846 (GRCm39)	S1503P	probably benign	Het
Actn3	C	A	19: 4,913,572 (GRCm39)	V620F	probably damaging	Het
Adamtsl3	A	G	7: 82,223,752 (GRCm39)	K252E	probably benign	Het
Adgrg1	A	G	8: 95,736,373 (GRCm39)	Y509C	probably damaging	Het
Arhgef2	G	A	3: 88,536,875 (GRCm39)		probably null	Het
Bod1l	T	C	5: 41,973,886 (GRCm39)	E2476G	probably benign	Het
Capn3	T	C	2: 120,331,811 (GRCm39)		probably benign	Het
Catsperz	T	C	19: 6,900,705 (GRCm39)	T147A	probably benign	Het
Cc2d1b	C	A	4: 108,483,283 (GRCm39)	A289E	probably benign	Het
Ccdc170	A	C	10: 4,511,107 (GRCm39)	H722P	probably damaging	Het
Cdk13	C	A	13: 17,893,110 (GRCm39)	A1358S	probably benign	Het
Cntn6	T	A	6: 104,546,074 (GRCm39)		probably benign	Het
Coch	A	G	12: 51,642,225 (GRCm39)	N66D	probably benign	Het
Col12a1	A	G	9: 79,564,030 (GRCm39)	S1732P	probably damaging	Het
Copa	T	A	1: 171,945,628 (GRCm39)	V917E	probably benign	Het
Csmd2	C	A	4: 128,445,828 (GRCm39)	N3299K	probably benign	Het
Cyp2c67	A	T	19: 39,627,132 (GRCm39)	F233I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,434 (GRCm39)	H126L	probably damaging	Het
Ddx46	T	C	13: 55,806,843 (GRCm39)	L492P	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Exoc3l4	T	C	12: 111,397,327 (GRCm39)		probably benign	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Flg2	C	A	3: 93,122,284 (GRCm39)	P1485T	unknown	Het
Fmo5	A	G	3: 97,549,078 (GRCm39)	Y242C	probably benign	Het
Fsip2	C	A	2: 82,808,916 (GRCm39)	T1745N	probably benign	Het
Gata4	T	A	14: 63,478,570 (GRCm39)	N10Y	probably damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm4787	A	C	12: 81,425,451 (GRCm39)	S236A	probably benign	Het
Golga7	A	C	8: 23,735,965 (GRCm39)	S94A	probably benign	Het
Gpbp1	A	G	13: 111,589,815 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,955,619 (GRCm39)	Y222H	probably benign	Het
Gstcd	A	G	3: 132,790,717 (GRCm39)	Y17H	possibly damaging	Het
Hephl1	C	A	9: 14,991,481 (GRCm39)	D586Y	probably damaging	Het
Hpn	C	A	7: 30,799,261 (GRCm39)	V35L	probably damaging	Het
Il23r	T	A	6: 67,400,725 (GRCm39)	N535I	probably damaging	Het
Inpp4a	T	C	1: 37,397,616 (GRCm39)	I45T	possibly damaging	Het
Itgae	G	C	11: 73,021,821 (GRCm39)	G901R	probably damaging	Het
Kif28	T	C	1: 179,530,103 (GRCm39)	D686G	probably damaging	Het
Kit	A	G	5: 75,781,507 (GRCm39)	E312G	probably benign	Het
Lamb2	C	A	9: 108,364,937 (GRCm39)	S1230R	probably benign	Het
Lars1	A	T	18: 42,361,842 (GRCm39)	D588E	possibly damaging	Het
Lgr4	T	A	2: 109,830,948 (GRCm39)	F292I	probably damaging	Het
Lmf1	C	T	17: 25,874,493 (GRCm39)	S458L	probably damaging	Het
Lpin2	T	A	17: 71,552,154 (GRCm39)	C787S	probably damaging	Het
Ms4a4a	A	C	19: 11,365,676 (GRCm39)	I138L	probably benign	Het
Mterf1a	A	T	5: 3,940,984 (GRCm39)	F295I	probably damaging	Het
Muc4	A	T	16: 32,577,432 (GRCm39)	K241*	probably null	Het
Muc5b	T	C	7: 141,419,268 (GRCm39)	F4017S	possibly damaging	Het
Nfkbil1	T	C	17: 35,440,384 (GRCm39)		probably benign	Het
Or10d5j	T	C	9: 39,868,202 (GRCm39)	T22A	probably benign	Het
Or4x6	A	G	2: 89,949,465 (GRCm39)	L159P	probably damaging	Het
Or8g21	A	T	9: 38,906,473 (GRCm39)	V86E	possibly damaging	Het
Osgep	T	C	14: 51,155,315 (GRCm39)	D81G	probably damaging	Het
Otos	A	G	1: 92,572,116 (GRCm39)	F70S	probably damaging	Het
Pcdhb2	T	A	18: 37,429,179 (GRCm39)	V384D	probably damaging	Het
Ppp1r10	C	T	17: 36,240,144 (GRCm39)	P514S	probably damaging	Het
Pramel14	G	A	4: 143,720,830 (GRCm39)	P37L	probably damaging	Het
Prdm16	A	G	4: 154,430,559 (GRCm39)	Y309H	probably damaging	Het
Rap1gds1	A	T	3: 138,661,962 (GRCm39)	D382E	probably damaging	Het
Reln	A	G	5: 22,153,627 (GRCm39)	F2226L	probably damaging	Het
Rmi2	C	T	16: 10,657,765 (GRCm39)	T125M	probably damaging	Het
Setd1a	C	T	7: 127,383,197 (GRCm39)	T231I	probably benign	Het
Sftpa1	G	A	14: 40,856,309 (GRCm39)	G218D	probably damaging	Het
Shcbp1	A	T	8: 4,786,138 (GRCm39)	F655I	probably damaging	Het
Slc5a7	T	C	17: 54,585,861 (GRCm39)	I319V	possibly damaging	Het
Sp140l2	G	A	1: 85,239,581 (GRCm39)	P19S	probably benign	Het
Spata31d1c	C	T	13: 65,183,409 (GRCm39)	T317I	probably damaging	Het
Speg	C	T	1: 75,404,742 (GRCm39)	P2845S	possibly damaging	Het
Synpo2	A	G	3: 123,029,550 (GRCm39)		probably null	Het
Tdpoz9	T	C	3: 93,957,451 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,013,191 (GRCm39)	S644T	probably damaging	Het
Tmem182	T	A	1: 40,877,460 (GRCm39)	Y112N	probably damaging	Het
Usp45	T	A	4: 21,824,815 (GRCm39)	N522K	probably benign	Het
Vnn3	A	T	10: 23,740,237 (GRCm39)	Y180F	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn1	A	T	9: 95,846,118 (GRCm39)	D57V	probably benign	Het
Zfp831	T	C	2: 174,486,357 (GRCm39)	V344A	probably benign	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
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
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'- GGTCACTGGTCTCTTTGCAG -3'
(R):5'- TACCCTAACTTGTGGTCAACATC -3'

Sequencing Primer
(F):5'- GTTGCAAATGACATGTTCGACCC -3'
(R):5'- TGTGGTCAACATCAGAAATAACAGAC -3'

Posted On

2016-06-21