Mutagenetix > Incidental Mutations

Incidental Mutation 'R6605:Pnpt1'

525618

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 #

R6605 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29130744-29161828 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29138567 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 277 (F277I)

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

possibly damaging
Transcript: ENSMUST00000020756
AA Change: F277I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020756
Gene: ENSMUSG00000020464
AA Change: F277I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154924

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

92% (35/38)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,296,037	S380T	probably benign	Het
Abcc6	T	A	7: 45,981,057	I1260F	probably damaging	Het
Acat2	A	G	17: 12,943,887	V358A	probably benign	Het
Adgrv1	G	A	13: 81,487,962	A3476V	possibly damaging	Het
Akap13	A	G	7: 75,579,768	N150D	probably damaging	Het
Asb2	G	T	12: 103,345,684	Q60K	probably benign	Het
Asxl3	A	T	18: 22,517,077	R708*	probably null	Het
Cd79b	C	T	11: 106,312,713	G116D	probably damaging	Het
Copg2	A	G	6: 30,858,822	F218S	probably benign	Het
Defa5	A	C	8: 21,297,588	E50D	possibly damaging	Het
Eva1c	T	A	16: 90,866,348	V91D	probably damaging	Het
Fosb	T	C	7: 19,309,358	Y25C	probably damaging	Het
Gm11639	T	A	11: 104,999,281		probably null	Het
Gm5141	G	A	13: 62,774,387	H323Y	probably damaging	Het
Gpr19	T	C	6: 134,870,435	N58S	probably benign	Het
Gpr26	G	A	7: 131,984,164	A288T	possibly damaging	Het
Gucy2g	T	A	19: 55,241,028	Q70L	probably damaging	Het
Ifit2	C	T	19: 34,573,497	R146*	probably null	Het
Lgr5	A	C	10: 115,457,867	N408K	possibly damaging	Het
Lrp1	G	A	10: 127,560,136	H2422Y	probably damaging	Het
Mief1	T	A	15: 80,248,491	Y191*	probably null	Het
Npr3	C	G	15: 11,905,432	A70P	probably damaging	Het
Olfr10	A	T	11: 49,317,714	H56L	probably damaging	Het
Pcnt	A	G	10: 76,429,198		probably null	Het
Pnlip	A	T	19: 58,671,742	D29V	probably benign	Het
Pou2f2	A	C	7: 25,093,581	V441G	probably damaging	Het
Prdm4	A	G	10: 85,904,138	V459A	probably benign	Het
Ptprs	A	T	17: 56,422,195	V855E	probably damaging	Het
Rflna	A	G	5: 125,011,288	T100A	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Syn3	A	G	10: 86,057,564	S472P	unknown	Het
Taar8a	A	T	10: 24,076,776	I93F	possibly damaging	Het
Taok2	T	A	7: 126,878,758	D207V	probably damaging	Het
Tpst2	A	T	5: 112,276,734		probably benign	Homo
Trdv2-1	A	G	14: 53,946,542	N77S	possibly damaging	Het
Wdr17	A	C	8: 54,681,524	V18G	probably benign	Het
Zbtb17	T	C	4: 141,464,950	V402A	probably damaging	Het
Zfp772	T	C	7: 7,205,548	E99G	possibly damaging	Het
Zw10	A	G	9: 49,069,626	D442G	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	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
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
R7497:Pnpt1	UTSW	11	29130860	missense	probably benign	0.00
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
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'- CTACATCGGTGAAAGGTTCTAAAAC -3'
(R):5'- GACTTGGTTTATGCTATAACTGGCC -3'

Sequencing Primer
(F):5'- CGGTGAAAGGTTCTAAAACAATAACC -3'
(R):5'- GGTTTATGCTATAACTGGCCTTCAAC -3'

Posted On

2018-06-22