Mutagenetix > Incidental Mutation

Incidental Mutation 'R7171:Enpp5'

558310

Institutional Source

Beutler Lab

Gene Symbol

Enpp5

Ensembl Gene

ENSMUSG00000023960

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 5

Synonyms

D17Abb1e

MMRRC Submission

045230-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7171 (G1)

Quality Score

225.009

Status

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,454,897 (GRCm39)	N154S	unknown	Het
Ank3	C	T	10: 69,828,311 (GRCm39)	H2327Y		Het
Ano6	A	G	15: 95,818,172 (GRCm39)	Y305C	probably damaging	Het
Apc2	A	G	10: 80,151,170 (GRCm39)	T2075A	possibly damaging	Het
Arl6	A	G	16: 59,443,455 (GRCm39)	V93A	possibly damaging	Het
Bcas3	T	C	11: 85,474,763 (GRCm39)	S790P	probably damaging	Het
Bcl9l	C	A	9: 44,416,448 (GRCm39)	H211N	probably benign	Het
Bptf	G	T	11: 107,022,233 (GRCm39)	D172E	unknown	Het
Card9	T	G	2: 26,249,496 (GRCm39)	I22L	possibly damaging	Het
Catsperg1	C	A	7: 28,884,637 (GRCm39)	G933V	probably damaging	Het
Catsperg2	T	A	7: 29,404,750 (GRCm39)	H771L	possibly damaging	Het
Ccdc66	T	C	14: 27,215,229 (GRCm39)	N281S	possibly damaging	Het
Cfap54	A	T	10: 92,612,072 (GRCm39)	L3162H	probably damaging	Het
Clca4a	A	G	3: 144,663,934 (GRCm39)	L503P	probably benign	Het
Cpn1	T	C	19: 43,962,470 (GRCm39)	N160D	probably damaging	Het
Ctsh	T	A	9: 89,949,154 (GRCm39)	I206K	probably benign	Het
Cyb561d1	G	A	3: 108,106,679 (GRCm39)	T180M	probably damaging	Het
Dapk1	A	T	13: 60,909,599 (GRCm39)	D1404V	probably damaging	Het
Dip2c	G	T	13: 9,556,684 (GRCm39)	R76L	probably benign	Het
Dnah7c	T	C	1: 46,719,898 (GRCm39)	I2783T	probably damaging	Het
E130308A19Rik	T	C	4: 59,690,333 (GRCm39)	Y56H	probably damaging	Het
Efemp2	G	T	19: 5,530,285 (GRCm39)	A310S	probably benign	Het
Faap24	G	A	7: 35,092,279 (GRCm39)	Q213*	probably null	Het
Fam181b	G	A	7: 92,729,943 (GRCm39)	G239S	possibly damaging	Het
Fancm	T	C	12: 65,148,394 (GRCm39)	W670R	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,944 (GRCm39)	L1636*	probably null	Het
Fmnl1	T	C	11: 103,081,224 (GRCm39)	Y357H	probably damaging	Het
Fryl	A	T	5: 73,279,653 (GRCm39)	V215E	probably damaging	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Fsip2	T	A	2: 82,816,571 (GRCm39)	Y4101*	probably null	Het
Gcn1	G	A	5: 115,728,352 (GRCm39)	V738I	probably benign	Het
Gdf9	C	T	11: 53,328,366 (GRCm39)	R441C	probably damaging	Het
Gipc3	C	T	10: 81,177,455 (GRCm39)	G79E	probably damaging	Het
Gzmf	T	A	14: 56,443,391 (GRCm39)	I196L	probably benign	Het
Hectd1	A	T	12: 51,806,080 (GRCm39)	V1852E	probably damaging	Het
Hip1r	A	T	5: 124,134,007 (GRCm39)	Q256L	probably benign	Het
Hmgxb4	T	C	8: 75,746,890 (GRCm39)	S405P	probably damaging	Het
Il9r	T	A	11: 32,142,671 (GRCm39)	H294L	probably benign	Het
Kif12	G	A	4: 63,086,931 (GRCm39)	T331I	probably damaging	Het
Krtap8-1	A	T	16: 89,284,794 (GRCm39)	M1K	probably null	Het
Lamc2	A	T	1: 153,015,495 (GRCm39)	C613S	probably damaging	Het
Lgr4	T	A	2: 109,831,314 (GRCm39)	N314K	probably benign	Het
Lpcat2	T	C	8: 93,635,894 (GRCm39)	I432T	probably benign	Het
Mfhas1	T	C	8: 36,056,146 (GRCm39)	V207A	probably benign	Het
Msh3	T	G	13: 92,485,806 (GRCm39)	T173P	probably benign	Het
Mup15	T	A	4: 61,356,505 (GRCm39)	M87L	probably benign	Het
N4bp2	T	C	5: 65,965,365 (GRCm39)	V1138A	probably benign	Het
Noc2l	T	C	4: 156,326,179 (GRCm39)	V422A	probably benign	Het
Notch3	C	T	17: 32,377,936 (GRCm39)	G74D	probably damaging	Het
Ocstamp	T	A	2: 165,240,081 (GRCm39)	K35I	probably benign	Het
Or12k7	T	C	2: 36,958,400 (GRCm39)	F28L	possibly damaging	Het
Or52w1	A	G	7: 105,017,968 (GRCm39)	H145R	probably benign	Het
Or5p58	A	G	7: 107,694,342 (GRCm39)	V145A	probably benign	Het
Or9a2	T	G	6: 41,748,961 (GRCm39)	T91P	probably benign	Het
Plekhh2	T	A	17: 84,829,216 (GRCm39)	V29D	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Rad54l2	C	T	9: 106,590,677 (GRCm39)	R483H	probably damaging	Het
Rapgef6	T	A	11: 54,567,189 (GRCm39)	D1128E	possibly damaging	Het
Rhbdl2	T	A	4: 123,708,049 (GRCm39)	I86N	possibly damaging	Het
Rims1	C	A	1: 22,498,740 (GRCm39)	R68L		Het
Rnf157	A	G	11: 116,253,199 (GRCm39)	F70L	possibly damaging	Het
Rtp3	C	T	9: 110,815,009 (GRCm39)	C452Y	unknown	Het
S100a14	A	T	3: 90,435,069 (GRCm39)	K27*	probably null	Het
Scai	C	T	2: 38,996,948 (GRCm39)	G282D	possibly damaging	Het
Sclt1	A	T	3: 41,672,195 (GRCm39)	I132N	probably benign	Het
Serpinf1	T	A	11: 75,308,811 (GRCm39)	Q2L	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc16a10	C	G	10: 39,913,255 (GRCm39)	E484D	probably benign	Het
Slc1a5	T	A	7: 16,531,463 (GRCm39)	D489E	probably damaging	Het
Slx4	C	T	16: 3,808,650 (GRCm39)	R430H	probably benign	Het
Teddm1b	A	T	1: 153,750,679 (GRCm39)	I163F	probably damaging	Het
Tmem171	A	T	13: 98,828,744 (GRCm39)	C135*	probably null	Het
Tmem82	C	T	4: 141,342,284 (GRCm39)	R306H	possibly damaging	Het
Tmem94	T	A	11: 115,681,781 (GRCm39)		probably null	Het
Trpm2	A	C	10: 77,759,848 (GRCm39)	L1096R	probably damaging	Het
Trrap	T	A	5: 144,730,859 (GRCm39)	L780Q	probably damaging	Het
Txlnb	A	G	10: 17,718,732 (GRCm39)	D521G	probably benign	Het
Usp7	T	C	16: 8,534,390 (GRCm39)	D59G	probably benign	Het
Vcan	G	A	13: 89,873,710 (GRCm39)	T48I	probably damaging	Het
Vmn1r45	A	G	6: 89,910,316 (GRCm39)	L218P	probably damaging	Het
Wdr25	A	T	12: 108,990,922 (GRCm39)	T370S	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
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'- GCCTGTAAGAAAGACGGGTATC -3'
(R):5'- ACTCTGTGTGTAAGGAATTGGC -3'

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

Posted On

2019-06-26