Mutagenetix > Incidental Mutations

Incidental Mutation 'R7497:Pnpt1'

581154

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 #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29130744-29161828 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29130860 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 35 (M35L)

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: M35L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020756
Gene: ENSMUSG00000020464
AA Change: M35L

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: 99.1%

Validation Efficiency

100% (70/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,191,176	I145F	probably benign	Het
Acvr2b	T	A	9: 119,433,286	V455E	probably benign	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Agap2	T	C	10: 127,090,965	V977A	probably damaging	Het
Als2cr12	T	A	1: 58,678,308	D148V	probably damaging	Het
Aph1b	A	C	9: 66,794,119	S79A	probably damaging	Het
Atm	G	A	9: 53,511,891	S645L	probably benign	Het
Ccdc173	A	C	2: 69,758,448	N439K	probably benign	Het
Cdh11	T	C	8: 102,673,824	R171G	probably benign	Het
Ces2f	T	A	8: 104,954,698	D556E	probably benign	Het
Cyp26b1	C	A	6: 84,576,982	V218L	possibly damaging	Het
D11Wsu47e	T	A	11: 113,692,397	W517R	probably damaging	Het
Diaph1	T	C	18: 37,895,300		probably null	Het
Dock1	A	G	7: 134,765,274	I482V	probably benign	Het
Dok4	A	T	8: 94,867,425	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,059,047	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,230,736	V157E	probably damaging	Het
Eif2a	C	A	3: 58,548,681	P367Q	probably damaging	Het
Elp2	C	T	18: 24,611,928	R102C	probably damaging	Het
Erich2	T	C	2: 70,534,322	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Gadl1	A	T	9: 116,074,087	I495L	probably benign	Het
Gcnt4	A	G	13: 96,946,960	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,643,580	K21E	unknown	Het
Gm11639	T	C	11: 104,762,690		probably null	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Gp2	C	T	7: 119,454,606	C44Y	probably damaging	Het
Hcar2	C	T	5: 123,865,186	V85I	probably benign	Het
Hira	T	C	16: 18,952,079	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,513,536	T49S	probably damaging	Het
Ints1	C	T	5: 139,768,976	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,324,376	L909R	probably damaging	Het
Klkb1	T	A	8: 45,294,790		probably benign	Het
Krit1	A	G	5: 3,812,349	H168R	possibly damaging	Het
Map3k21	A	T	8: 125,927,601	E386D	probably damaging	Het
Muc16	C	T	9: 18,645,089	E3303K	unknown	Het
Muc5b	T	G	7: 141,861,513	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,197,701	L189P		Het
Nlrc5	T	C	8: 94,521,970	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,082,818	K402R	probably benign	Het
Olfr1272	T	A	2: 90,281,754	T274S	possibly damaging	Het
Olfr52	T	C	2: 86,182,073	I13V	probably benign	Het
Olfr601	T	C	7: 103,359,012	M61V	probably damaging	Het
Olfr727	T	A	14: 50,127,495	L306Q	probably benign	Het
Pnmal2	A	G	7: 16,944,949		probably benign	Het
Postn	A	G	3: 54,362,670	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775	D110A	probably damaging	Het
Pptc7	G	A	5: 122,284,879	V71M	possibly damaging	Het
Prdm11	T	A	2: 93,012,707	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,279,498	L613P	probably damaging	Het
Ryr3	T	C	2: 112,730,473	D2981G	probably benign	Het
Sbf2	C	A	7: 110,614,716	E16*	probably null	Het
Scara3	T	C	14: 65,931,202	E322G	probably damaging	Het
Sema5b	T	A	16: 35,661,330	C893S	probably damaging	Het
Setdb1	T	C	3: 95,341,828	D323G	probably damaging	Het
Slc19a3	T	C	1: 83,013,928	Y453C	probably damaging	Het
Snx5	T	C	2: 144,257,974	K137E	probably damaging	Het
Taar8c	G	A	10: 24,101,218	T232I	probably benign	Het
Taok2	G	A	7: 126,874,878	T352I	probably damaging	Het
Ttc3	C	A	16: 94,418,682	R489S	possibly damaging	Het
Usp12	A	T	5: 146,752,454		probably null	Het
Usp16	T	A	16: 87,466,286	C125*	probably null	Het
Vmn2r106	C	T	17: 20,267,939	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,697	I2832K	probably benign	Het
Vps13c	A	G	9: 67,840,479	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,026,193	I335K	probably benign	Het
Zfp788	A	T	7: 41,648,851	I304F	possibly damaging	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	splice site	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
R7096:Pnpt1	UTSW	11	29154867	missense	probably benign	0.03
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
R7686:Pnpt1	UTSW	11	29157070	missense	probably damaging	0.97
R8166:Pnpt1	UTSW	11	29156875	missense	probably benign
R8309:Pnpt1	UTSW	11	29153277	missense	probably benign	0.01
R8389:Pnpt1	UTSW	11	29130758	start codon destroyed	unknown
R8542:Pnpt1	UTSW	11	29132773	splice site	probably null
R8737:Pnpt1	UTSW	11	29154815	critical splice acceptor site	probably null
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'- ATTGCTTTCCCGGCAGTTTG -3'
(R):5'- CTCGACCTTAGGTTTGGAGTAGAG -3'

Sequencing Primer
(F):5'- TTTGCAGGCTCCACGGAAAC -3'
(R):5'- GAACTTAAGAGACTTAGGCTGCTTG -3'

Posted On

2019-10-17