Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Enpp5'

523809

Institutional Source

Beutler Lab

Gene Symbol

Enpp5

Ensembl Gene

ENSMUSG00000023960

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 5

Synonyms

D17Abb1e

MMRRC Submission

044637-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6505 (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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,220,772 (GRCm39)	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,285,115 (GRCm39)	A8V	probably benign	Het
Ago1	G	A	4: 126,357,628 (GRCm39)	P16S	probably benign	Het
Ak5	C	T	3: 152,187,306 (GRCm39)	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,660,068 (GRCm39)	Y498C	probably damaging	Het
Alox12	T	A	11: 70,141,030 (GRCm39)	D335V	probably damaging	Het
Alx4	A	T	2: 93,498,904 (GRCm39)	Y212F	probably damaging	Het
Asb16	A	G	11: 102,167,303 (GRCm39)	E223G	probably damaging	Het
Atg9b	C	T	5: 24,595,575 (GRCm39)	V235M	probably damaging	Het
BB014433	A	G	8: 15,092,304 (GRCm39)	V183A	probably benign	Het
Brca1	T	A	11: 101,414,367 (GRCm39)	M1256L	probably benign	Het
Bst1	A	G	5: 43,977,932 (GRCm39)	I94V	probably benign	Het
C3ar1	A	G	6: 122,827,599 (GRCm39)	L206P	probably benign	Het
Cabs1	T	A	5: 88,128,522 (GRCm39)	M391K	possibly damaging	Het
Cars1	C	T	7: 143,118,744 (GRCm39)	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,760,592 (GRCm39)	Y73*	probably null	Het
Cd177	A	C	7: 24,443,671 (GRCm39)	L809W	probably benign	Het
Cemip	C	A	7: 83,600,805 (GRCm39)	G939*	probably null	Het
Clca3b	T	A	3: 144,531,020 (GRCm39)	I777F	probably benign	Het
Cma2	T	C	14: 56,211,236 (GRCm39)	I176T	probably damaging	Het
Col12a1	T	A	9: 79,554,887 (GRCm39)	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,262,805 (GRCm39)	N860S	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dennd4b	A	G	3: 90,174,918 (GRCm39)	E50G	probably damaging	Het
Dis3l	A	T	9: 64,214,795 (GRCm39)	S925T	probably benign	Het
Disp1	T	C	1: 182,868,076 (GRCm39)	N1448S	probably benign	Het
Dpp10	T	C	1: 123,264,580 (GRCm39)	I747M	probably damaging	Het
Ephx4	A	T	5: 107,551,522 (GRCm39)	K36*	probably null	Het
Fam135a	C	T	1: 24,053,953 (GRCm39)	V1195I	probably damaging	Het
Fap	A	T	2: 62,376,947 (GRCm39)	Y234*	probably null	Het
Fem1c	A	T	18: 46,638,942 (GRCm39)	N353K	possibly damaging	Het
Furin	C	A	7: 80,043,365 (GRCm39)	R282L	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,568,828 (GRCm39)	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,031,379 (GRCm39)	T15S	probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Il18r1	A	T	1: 40,528,867 (GRCm39)	I304L	probably benign	Het
Ino80	A	T	2: 119,281,922 (GRCm39)	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,395,507 (GRCm39)	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,236,744 (GRCm39)	M435T	probably benign	Het
Kcnh4	T	C	11: 100,647,911 (GRCm39)	N151D	probably benign	Het
Lama3	T	C	18: 12,628,405 (GRCm39)	M1499T	probably benign	Het
Lamb1	A	T	12: 31,373,461 (GRCm39)	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,664,211 (GRCm39)	R239*	probably null	Het
Map2k4	A	T	11: 65,584,355 (GRCm39)	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,873,768 (GRCm39)	F784S	probably damaging	Het
Mrgpra9	T	A	7: 46,884,884 (GRCm39)	N260I	probably benign	Het
Mrnip	C	A	11: 50,090,679 (GRCm39)	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,808,501 (GRCm39)	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,269,184 (GRCm39)	I406T	possibly damaging	Het
Neto1	A	G	18: 86,516,699 (GRCm39)	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,104,025 (GRCm39)	D541G	probably damaging	Het
Nuak2	C	A	1: 132,244,132 (GRCm39)	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,582,439 (GRCm39)	T118A	probably benign	Het
Or11i1	T	G	3: 106,729,638 (GRCm39)	N79T	possibly damaging	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or51af1	T	A	7: 103,141,858 (GRCm39)	T76S	probably damaging	Het
Or52e19	C	A	7: 102,959,000 (GRCm39)	A24D	probably benign	Het
Or5d16	A	T	2: 87,773,518 (GRCm39)	Y151*	probably null	Het
Or5p59	T	C	7: 107,702,774 (GRCm39)	V86A	probably benign	Het
Or6d13	C	T	6: 116,517,561 (GRCm39)	T49M	probably benign	Het
Or7a40	A	T	16: 16,491,784 (GRCm39)	D20E	probably benign	Het
Or7g29	T	C	9: 19,286,237 (GRCm39)	*313W	probably null	Het
Pcdhb5	T	A	18: 37,453,933 (GRCm39)	H104Q	probably benign	Het
Phf11a	T	C	14: 59,514,986 (GRCm39)	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,383,615 (GRCm39)	T478I	probably benign	Het
Prkacb	T	A	3: 146,438,401 (GRCm39)	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,957,776 (GRCm39)	D221E	probably damaging	Het
Prr11	T	A	11: 86,996,950 (GRCm39)	K5*	probably null	Het
Prrc2b	G	A	2: 32,112,332 (GRCm39)	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,378,845 (GRCm39)	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,822,147 (GRCm39)	Q233*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sash1	C	G	10: 8,605,291 (GRCm39)	G1033A	probably benign	Het
Sncaip	C	A	18: 53,039,609 (GRCm39)	S189*	probably null	Het
Sorl1	T	C	9: 41,982,530 (GRCm39)	Y350C	probably damaging	Het
Speg	T	C	1: 75,383,328 (GRCm39)	V1141A	possibly damaging	Het
Speg	C	A	1: 75,406,167 (GRCm39)	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 59,994,144 (GRCm39)	D224V	probably benign	Het
Tg	G	A	15: 66,631,407 (GRCm39)	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,861,502 (GRCm39)	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,920 (GRCm39)	C278Y	probably damaging	Het
Togaram1	T	C	12: 65,013,364 (GRCm39)	I205T	possibly damaging	Het
Usp19	T	A	9: 108,374,082 (GRCm39)	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,489,824 (GRCm39)	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,364,983 (GRCm39)	S475P	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
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'- GCCTGTAAGAAAGACGGGTATC -3'
(R):5'- CCTGGTTTGTCACTCCCAAG -3'

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

Posted On

2018-06-22