Mutagenetix > Incidental Mutations

Incidental Mutation 'R7096:Pnpt1'

550499

Institutional Source

Beutler Lab

Gene Symbol

Pnpt1

Ensembl Gene

ENSMUSG00000020464

Gene Name

polyribonucleotide nucleotidyltransferase 1

Synonyms

PNPase, polynucleotide phosphorylase, 1200003F12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29130744-29161828 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29154867 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 597 (R597Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020756]

PDB Structure

Solution structure of the alpha-helical domain from mouse hypothetical PNPase [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000020756
AA Change: R597Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020756
Gene: ENSMUSG00000020464
AA Change: R597Q

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
Pfam:RNase_PH	52	183	1.9e-16	PFAM
Pfam:RNase_PH_C	186	251	3.8e-13	PFAM
Pfam:PNPase	282	363	3.7e-9	PFAM
Pfam:RNase_PH	366	501	3.4e-22	PFAM
Pfam:RNase_PH_C	504	581	7.1e-6	PFAM
KH	604	669	8e-7	SMART
S1	677	750	2.15e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,933,870	M383R	probably damaging	Het
Acd	T	A	8: 105,698,489	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,428,189		probably null	Het
Alg10b	C	T	15: 90,227,361	T136I	probably benign	Het
Ankrd42	T	A	7: 92,591,832	K440*	probably null	Het
Apc	T	A	18: 34,315,957	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,184,028	Y447C	probably damaging	Het
AW146154	G	A	7: 41,481,443	A83V	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Barhl1	T	G	2: 28,909,714	I300L	probably benign	Het
Brd1	C	A	15: 88,713,935	R536L	probably damaging	Het
Brms1	T	A	19: 5,046,680	I130N	probably damaging	Het
Ccdc68	A	G	18: 69,940,170	H63R	probably damaging	Het
Ccl28	A	G	13: 119,650,893	I74V	probably benign	Het
Cd300ld	T	A	11: 114,987,495	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,033,184	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,661,358	R133Q	probably benign	Het
Coq2	A	G	5: 100,663,720		probably benign	Het
Coq6	T	C	12: 84,361,821		probably null	Het
Csmd2	C	T	4: 128,462,726	S1608L		Het
Cyp11b2	T	A	15: 74,855,988	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,405,261	T217A	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,483,440	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,657,078	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,715,425	E183V	probably damaging	Het
Elovl6	A	G	3: 129,605,106	N52S	probably benign	Het
Eps8l1	G	T	7: 4,474,191	A455S	probably benign	Het
Gpat2	A	G	2: 127,428,289	N74S	probably benign	Het
Gstk1	C	A	6: 42,249,473	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,696,559		probably null	Het
Gucy2c	T	C	6: 136,728,341	D532G	probably benign	Het
Hoxc12	T	A	15: 102,937,038	N62K	possibly damaging	Het
Hsdl1	C	A	8: 119,566,325	A124S	possibly damaging	Het
Il11	T	C	7: 4,775,996	Y45C	probably damaging	Het
Lcat	C	T	8: 105,939,677	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,501,373	F72L	probably benign	Het
Map10	T	C	8: 125,671,923	L685P	probably damaging	Het
Me2	A	G	18: 73,794,890	V174A	probably benign	Het
Med13l	C	A	5: 118,721,926	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,947,775	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,891,769	I33N	probably damaging	Het
Myo15b	T	A	11: 115,891,498		probably null	Het
Myof	C	A	19: 37,936,200	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,825,690	T675M	probably damaging	Het
Olfr385	T	A	11: 73,589,637	M34L	probably benign	Het
Olfr485	C	A	7: 108,159,641	M77I	probably benign	Het
Olfr768	T	C	10: 129,093,846	I43V	probably damaging	Het
Padi3	T	C	4: 140,800,124	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,672,615	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,397,503	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,129,261	G639S	possibly damaging	Het
Piwil4	T	A	9: 14,736,816	K156*	probably null	Het
Pkmyt1	T	A	17: 23,734,113	H214Q	probably damaging	Het
Poteg	C	A	8: 27,473,567	A344E	probably benign	Het
Rad21l	A	G	2: 151,667,920	M87T	probably benign	Het
Ranbp17	T	C	11: 33,474,896	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,392,231	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,774,269	R871L	probably damaging	Het
Rnf135	T	C	11: 80,189,225	V114A	probably benign	Het
Skiv2l	T	A	17: 34,841,470	H849L	probably benign	Het
Snai2	A	G	16: 14,707,164	H178R	possibly damaging	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Taar1	A	T	10: 23,920,911	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,487,589	D625E		Het
Tlr6	A	G	5: 64,953,776	V596A	probably benign	Het
Trak2	T	G	1: 58,903,590	N886H	probably damaging	Het
Tsga10	T	A	1: 37,840,614	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,035,026	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,462,500	L814S	probably damaging	Het
Zbbx	T	C	3: 75,081,737	D353G	probably benign	Het

Other mutations in Pnpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Pnpt1	APN	11	29154217	critical splice donor site	probably null
IGL00920:Pnpt1	APN	11	29157087	splice site	probably benign
IGL01358:Pnpt1	APN	11	29138425	missense	possibly damaging	0.95
IGL01454:Pnpt1	APN	11	29137142	missense	probably benign	0.19
IGL01622:Pnpt1	APN	11	29148272	splice site	probably benign
IGL01623:Pnpt1	APN	11	29148272	splice site	probably benign
IGL01674:Pnpt1	APN	11	29155787	missense	probably benign	0.00
IGL01802:Pnpt1	APN	11	29154306	missense	probably damaging	1.00
IGL02222:Pnpt1	APN	11	29159327	missense	possibly damaging	0.71
IGL02222:Pnpt1	APN	11	29130842	missense	probably benign	0.00
IGL02616:Pnpt1	APN	11	29135505	splice site	probably benign
IGL02859:Pnpt1	APN	11	29138162	missense	probably damaging	1.00
IGL02965:Pnpt1	APN	11	29156939	missense	probably damaging	0.98
IGL03121:Pnpt1	APN	11	29132845	missense	probably benign	0.03
PIT4651001:Pnpt1	UTSW	11	29156945	critical splice donor site	probably null
R1023:Pnpt1	UTSW	11	29141328	splice site	probably benign
R1477:Pnpt1	UTSW	11	29137102	missense	probably benign	0.14
R1524:Pnpt1	UTSW	11	29130776	missense	unknown
R1769:Pnpt1	UTSW	11	29154159	missense	probably benign	0.22
R1839:Pnpt1	UTSW	11	29154342	missense	possibly damaging	0.82
R1975:Pnpt1	UTSW	11	29141256	missense	probably benign	0.16
R1977:Pnpt1	UTSW	11	29141256	missense	probably benign	0.16
R1996:Pnpt1	UTSW	11	29141679	missense	probably benign	0.01
R3771:Pnpt1	UTSW	11	29138174	missense	probably benign	0.05
R4346:Pnpt1	UTSW	11	29145478	missense	probably damaging	1.00
R4423:Pnpt1	UTSW	11	29153375	intron	probably null
R5354:Pnpt1	UTSW	11	29154166	missense	probably damaging	1.00
R5503:Pnpt1	UTSW	11	29138156	missense	probably damaging	1.00
R5514:Pnpt1	UTSW	11	29153246	missense	possibly damaging	0.82
R5908:Pnpt1	UTSW	11	29130887	missense	probably benign	0.00
R6225:Pnpt1	UTSW	11	29145469	missense	probably benign	0.38
R6605:Pnpt1	UTSW	11	29138567	missense	possibly damaging	0.69
R7214:Pnpt1	UTSW	11	29137285	missense	probably damaging	1.00
R7365:Pnpt1	UTSW	11	29161334	missense	probably damaging	1.00
R7492:Pnpt1	UTSW	11	29135522	missense	probably benign	0.01
R7497:Pnpt1	UTSW	11	29130860	missense	probably benign	0.00
R7686:Pnpt1	UTSW	11	29157070	missense	probably damaging	0.97
Z1176:Pnpt1	UTSW	11	29145475	missense	probably benign	0.00
Z1176:Pnpt1	UTSW	11	29145477	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CTGAGTCAGTCTGGAGAAGTAAGTG -3'
(R):5'- TGCTCTTCTTTCAATACACACAATG -3'

Sequencing Primer
(F):5'- GTCTGGAGAAGTAAGTGAGGAATAG -3'
(R):5'- TAGCCTAAGTTCAGTCCCCAGG -3'

Posted On

2019-05-15