Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Prune1'

444240

Institutional Source

Beutler Lab

Gene Symbol

Prune1

Ensembl Gene

ENSMUSG00000015711

Gene Name

prune exopolyphosphatase

Synonyms

9230112O05Rik, Prune-M1, Prune

MMRRC Submission

043307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95253674-95282076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95258178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 261 (L261Q)

Ref Sequence

ENSEMBL: ENSMUSP00000015855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015855]

AlphaFold

Q8BIW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000015855
AA Change: L261Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711
AA Change: L261Q

Domain	Start	End	E-Value	Type
Pfam:DHH	19	181	2.5e-10	PFAM
DHHA2	215	359	1.88e-33	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a flattened pancake appearance at E9. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,994		probably null	Het
1810032O08Rik	A	T	11: 116,672,664	T27S	possibly damaging	Het
4930432K21Rik	A	T	8: 84,166,659	I152F	probably benign	Het
9430015G10Rik	T	A	4: 156,123,559	L112H	probably damaging	Het
Acaca	T	C	11: 84,243,384	L441P	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,438,657	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,107,620	T373A	probably damaging	Het
Atr	C	A	9: 95,905,813	N1486K	probably benign	Het
Avl9	T	C	6: 56,753,839	S583P	probably damaging	Het
Bptf	A	T	11: 107,073,699	D1493E	probably benign	Het
C2cd2l	T	C	9: 44,313,772	E548G	probably damaging	Het
Capn3	G	A	2: 120,477,025	R15Q	probably benign	Het
Ccl3	A	G	11: 83,649,213	F22S	probably benign	Het
Clcf1	T	C	19: 4,222,096	F69S	probably damaging	Het
Col13a1	T	C	10: 61,851,116	E170G	probably damaging	Het
Dhx29	T	A	13: 112,946,879	F489L	probably damaging	Het
Dhx8	A	T	11: 101,740,751	N390I	probably damaging	Het
Dkk1	T	A	19: 30,548,789	Y135F	probably benign	Het
Edil3	G	T	13: 89,319,713	V446F	probably damaging	Het
Epha5	T	A	5: 84,331,866	E93V	probably damaging	Het
Epsti1	C	T	14: 77,963,664	T196I	possibly damaging	Het
Fras1	T	C	5: 96,728,535	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,652,490	V1532A	probably benign	Het
Fsip2	T	A	2: 82,988,095	M4724K	probably benign	Het
Gcat	T	A	15: 79,043,073	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,702,275	K276E	probably benign	Het
Gjb5	T	A	4: 127,355,929	I141F	probably benign	Het
Glt6d1	T	C	2: 25,814,180	I7V	probably benign	Het
Gm37596	A	G	3: 93,692,687	F125S	probably benign	Het
Gm5771	C	T	6: 41,394,671	P17L	probably benign	Het
Gm6169	C	A	13: 97,099,121	L39F	probably damaging	Het
Gtf2h5	G	A	17: 6,084,524	G30R	probably damaging	Het
Herc6	C	A	6: 57,618,684	T449K	probably benign	Het
Hpn	A	T	7: 31,099,262	Y132N	probably damaging	Het
Hpx	A	T	7: 105,595,148	M190K	probably benign	Het
Inf2	A	G	12: 112,611,728	H1151R	unknown	Het
Krt74	A	G	15: 101,760,579		noncoding transcript	Het
Loxl3	G	A	6: 83,049,882	S564N	probably benign	Het
Map7	T	A	10: 20,267,359	V418E	unknown	Het
Mrpl37	T	C	4: 107,064,391	N214D	probably benign	Het
Mthfr	T	C	4: 148,055,466	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,359,882	D2099G	probably benign	Het
Nktr	T	A	9: 121,749,417	C825*	probably null	Het
Nomo1	A	G	7: 46,076,157	E1029G	probably benign	Het
Nup133	T	C	8: 123,906,281	D1037G	probably benign	Het
Olfr1271	A	G	2: 90,265,615	F272L	probably damaging	Het
Olfr153	T	C	2: 87,532,834	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,448,996	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,737,007	L38P	probably damaging	Het
Pkd1	A	T	17: 24,569,371	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,537,478	T1070A	probably damaging	Het
Ppl	T	C	16: 5,106,055	D185G	probably benign	Het
Qser1	A	T	2: 104,778,196	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,654,467	C8G	probably damaging	Het
Sla2	A	T	2: 156,874,999	D180E	probably benign	Het
Slc4a4	C	T	5: 89,028,244	L25F	probably damaging	Het
Tbx3	A	G	5: 119,678,731	K311R	possibly damaging	Het
Thbs2	A	T	17: 14,689,837	C167S	probably damaging	Het
Trak1	T	A	9: 121,472,307	C710S	possibly damaging	Het
Tsks	G	A	7: 44,953,784	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,746,379	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,592,765	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,713,074	T303M	probably damaging	Het
Vmn2r68	A	T	7: 85,233,770	M258K	probably benign	Het
Vmn2r76	A	G	7: 86,245,994		probably null	Het
Wap	A	G	11: 6,638,609	I5T	possibly damaging	Het
Zfp235	A	C	7: 24,142,151	H665P	probably damaging	Het

Other mutations in Prune1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Prune1	APN	3	95265557	missense	probably damaging	1.00
IGL02186:Prune1	APN	3	95259237	splice site	probably benign
IGL02659:Prune1	APN	3	95255400	missense	possibly damaging	0.95
R0039:Prune1	UTSW	3	95262367	missense	probably damaging	1.00
R0194:Prune1	UTSW	3	95262360	missense	probably damaging	0.98
R1791:Prune1	UTSW	3	95268242	missense	possibly damaging	0.91
R2072:Prune1	UTSW	3	95255408	missense	probably benign
R2513:Prune1	UTSW	3	95258119	missense	probably benign	0.04
R3814:Prune1	UTSW	3	95265439	missense	probably damaging	1.00
R4050:Prune1	UTSW	3	95262231	missense	possibly damaging	0.51
R4455:Prune1	UTSW	3	95281896	splice site	probably null
R4589:Prune1	UTSW	3	95262331	missense	possibly damaging	0.50
R6122:Prune1	UTSW	3	95262243	missense	probably benign	0.00
R6773:Prune1	UTSW	3	95263771	missense	probably damaging	1.00
R7285:Prune1	UTSW	3	95255046	missense	probably damaging	1.00
R7459:Prune1	UTSW	3	95281710	unclassified	probably benign
R7635:Prune1	UTSW	3	95255285	missense	probably damaging	1.00
R8367:Prune1	UTSW	3	95265526	missense	probably benign	0.01
R9000:Prune1	UTSW	3	95255324	missense	probably benign	0.00
Z1176:Prune1	UTSW	3	95255000	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TACCCAGGGTTTGTTGCAGC -3'
(R):5'- CTTAATTGAAAGCCTGTATTCTCCC -3'

Sequencing Primer
(F):5'- TTCAGAACTGTCACCCTCGGAG -3'
(R):5'- ATTGAAAGCCTGTATTCTCCCTATTC -3'

Posted On

2016-11-09