Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Prune1'

485756

Institutional Source

Beutler Lab

Gene Symbol

Prune1

Ensembl Gene

ENSMUSG00000015711

Gene Name

prune exopolyphosphatase

Synonyms

Prune, 9230112O05Rik, Prune-M1

MMRRC Submission

044269-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95160985-95189387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95169554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 216 (D216G)

Ref Sequence

ENSEMBL: ENSMUSP00000015855 (fasta)

Gene Model

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

AlphaFold

Q8BIW1

Predicted Effect

probably benign
Transcript: ENSMUST00000015855
AA Change: D216G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711
AA Change: D216G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148959

Meta Mutation Damage Score

0.1278

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,750 (GRCm39)	*301W	probably null	Het
Abat	A	G	16: 8,423,414 (GRCm39)	I236V	probably benign	Het
Abca8a	T	C	11: 109,961,249 (GRCm39)	T558A	probably benign	Het
Ace3	A	C	11: 105,885,764 (GRCm39)	M57L	probably benign	Het
Adgrg1	T	C	8: 95,729,129 (GRCm39)	S18P	probably benign	Het
Ahi1	A	G	10: 20,934,064 (GRCm39)	D60G	probably benign	Het
Ap4e1	T	A	2: 126,870,080 (GRCm39)		probably null	Het
Arnt2	C	A	7: 84,010,773 (GRCm39)	K34N	probably damaging	Het
Ascc3	T	A	10: 50,494,021 (GRCm39)	M152K	probably benign	Het
AW551984	A	T	9: 39,505,051 (GRCm39)	F480L	probably benign	Het
Blvrb	G	A	7: 27,158,773 (GRCm39)	A58T	possibly damaging	Het
Bpifa1	C	T	2: 153,985,892 (GRCm39)	T69I	probably benign	Het
Cacna1g	T	A	11: 94,320,997 (GRCm39)	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,880 (GRCm39)	I361V	probably benign	Het
Clca4b	T	A	3: 144,631,927 (GRCm39)	I193F	possibly damaging	Het
Crb1	A	T	1: 139,176,686 (GRCm39)	Y371*	probably null	Het
Cul9	T	C	17: 46,832,854 (GRCm39)	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,332,877 (GRCm39)	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,086,637 (GRCm39)	S780T	probably benign	Het
Fzd5	G	T	1: 64,774,815 (GRCm39)	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695 (GRCm39)	S340P	probably damaging	Het
Galnt7	T	C	8: 57,979,200 (GRCm39)	D641G	probably damaging	Het
Gm7133	A	G	1: 97,110,948 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,120,602 (GRCm39)	L774P	possibly damaging	Het
Itch	T	A	2: 155,015,985 (GRCm39)	S157T	probably benign	Het
Itgam	A	C	7: 127,684,824 (GRCm39)	D398A	probably damaging	Het
Kalrn	G	T	16: 33,805,561 (GRCm39)	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,468,875 (GRCm39)	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,758,573 (GRCm39)		probably benign	Het
Krt1c	G	C	15: 101,724,349 (GRCm39)	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,342,441 (GRCm39)	N1645D	probably damaging	Het
Naf1	T	A	8: 67,336,096 (GRCm39)	I341K	probably damaging	Het
Nbea	G	T	3: 55,937,317 (GRCm39)	H765N	probably damaging	Het
Ncapd3	A	G	9: 26,975,278 (GRCm39)	I776V	probably benign	Het
Neo1	A	T	9: 58,824,291 (GRCm39)	D712E	probably benign	Het
Neu1	G	A	17: 35,153,730 (GRCm39)	V385I	probably benign	Het
Or14j3	C	A	17: 37,900,817 (GRCm39)	R142S	probably benign	Het
Or51a6	C	A	7: 102,604,011 (GRCm39)	G273C	probably damaging	Het
Or51a6	A	G	7: 102,604,737 (GRCm39)	Y24H	probably benign	Het
Pgghg	A	C	7: 140,523,308 (GRCm39)	T196P	possibly damaging	Het
Pira2	A	T	7: 3,845,445 (GRCm39)	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,809,107 (GRCm39)	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509 (GRCm39)	N21K	probably damaging	Het
Ptpn23	G	T	9: 110,216,893 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,301,351 (GRCm39)	M668K	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpsa	G	T	9: 119,960,102 (GRCm39)	V222L	probably benign	Het
Septin2	A	G	1: 93,425,098 (GRCm39)	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,445,384 (GRCm39)	D260V	probably damaging	Het
Srrm2	G	T	17: 24,039,330 (GRCm39)	M2087I	possibly damaging	Het
Tg	T	C	15: 66,700,306 (GRCm39)	L88P	probably damaging	Het
Tns1	A	G	1: 73,991,578 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,224,160 (GRCm39)	D1429V	probably benign	Het
Tprg1	A	G	16: 25,241,151 (GRCm39)		probably null	Het
Trit1	T	C	4: 122,933,261 (GRCm39)	I66T	possibly damaging	Het
Usf3	A	T	16: 44,037,670 (GRCm39)	I717L	probably damaging	Het

Other mutations in Prune1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Prune1	APN	3	95,172,868 (GRCm39)	missense	probably damaging	1.00
IGL02186:Prune1	APN	3	95,166,548 (GRCm39)	splice site	probably benign
IGL02659:Prune1	APN	3	95,162,711 (GRCm39)	missense	possibly damaging	0.95
R0039:Prune1	UTSW	3	95,169,678 (GRCm39)	missense	probably damaging	1.00
R0194:Prune1	UTSW	3	95,169,671 (GRCm39)	missense	probably damaging	0.98
R1791:Prune1	UTSW	3	95,175,553 (GRCm39)	missense	possibly damaging	0.91
R2072:Prune1	UTSW	3	95,162,719 (GRCm39)	missense	probably benign
R2513:Prune1	UTSW	3	95,165,430 (GRCm39)	missense	probably benign	0.04
R3814:Prune1	UTSW	3	95,172,750 (GRCm39)	missense	probably damaging	1.00
R4050:Prune1	UTSW	3	95,169,542 (GRCm39)	missense	possibly damaging	0.51
R4455:Prune1	UTSW	3	95,189,207 (GRCm39)	splice site	probably null
R4589:Prune1	UTSW	3	95,169,642 (GRCm39)	missense	possibly damaging	0.50
R5664:Prune1	UTSW	3	95,165,489 (GRCm39)	missense	probably damaging	1.00
R6773:Prune1	UTSW	3	95,171,082 (GRCm39)	missense	probably damaging	1.00
R7285:Prune1	UTSW	3	95,162,357 (GRCm39)	missense	probably damaging	1.00
R7459:Prune1	UTSW	3	95,189,021 (GRCm39)	unclassified	probably benign
R7635:Prune1	UTSW	3	95,162,596 (GRCm39)	missense	probably damaging	1.00
R8367:Prune1	UTSW	3	95,172,837 (GRCm39)	missense	probably benign	0.01
R9000:Prune1	UTSW	3	95,162,635 (GRCm39)	missense	probably benign	0.00
Z1176:Prune1	UTSW	3	95,162,311 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGGCTCAGGATGGAATGAC -3'
(R):5'- TTCTCTTAGGACATGGTCAATCC -3'

Sequencing Primer
(F):5'- CATAACATGACTCATCTGTTCGTGAG -3'
(R):5'- GTGAGTGGAGGGTTCACTCACAC -3'

Posted On

2017-08-16