Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Pnpt1'

580858

Institutional Source

Beutler Lab

Gene Symbol

Pnpt1

Ensembl Gene

ENSMUSG00000020464

Gene Name

polyribonucleotide nucleotidyltransferase 1

Synonyms

1200003F12Rik, polynucleotide phosphorylase, PNPase

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29080744-29111828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29085522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 138 (I138V)

Ref Sequence

ENSEMBL: ENSMUSP00000020756 (fasta)

Gene Model

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

AlphaFold

Q8K1R3

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020756
AA Change: I138V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020756
Gene: ENSMUSG00000020464
AA Change: I138V

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: 99.0%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Cntn1	A	C	15: 92,212,423 (GRCm39)	T862P	probably benign	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or10al6	A	T	17: 38,082,571 (GRCm39)	Q9L	possibly damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,556,497 (GRCm39)	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prkd3	A	T	17: 79,269,974 (GRCm39)	C562*	probably null	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc2a4	G	A	11: 69,837,202 (GRCm39)	T78I	probably benign	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,719,922 (GRCm39)	H831L	probably benign	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het

Other mutations in Pnpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Pnpt1	APN	11	29,104,217 (GRCm39)	critical splice donor site	probably null
IGL00920:Pnpt1	APN	11	29,107,087 (GRCm39)	splice site	probably benign
IGL01358:Pnpt1	APN	11	29,088,425 (GRCm39)	missense	possibly damaging	0.95
IGL01454:Pnpt1	APN	11	29,087,142 (GRCm39)	missense	probably benign	0.19
IGL01622:Pnpt1	APN	11	29,098,272 (GRCm39)	splice site	probably benign
IGL01623:Pnpt1	APN	11	29,098,272 (GRCm39)	splice site	probably benign
IGL01674:Pnpt1	APN	11	29,105,787 (GRCm39)	missense	probably benign	0.00
IGL01802:Pnpt1	APN	11	29,104,306 (GRCm39)	missense	probably damaging	1.00
IGL02222:Pnpt1	APN	11	29,080,842 (GRCm39)	missense	probably benign	0.00
IGL02222:Pnpt1	APN	11	29,109,327 (GRCm39)	missense	possibly damaging	0.71
IGL02616:Pnpt1	APN	11	29,085,505 (GRCm39)	splice site	probably benign
IGL02859:Pnpt1	APN	11	29,088,162 (GRCm39)	missense	probably damaging	1.00
IGL02965:Pnpt1	APN	11	29,106,939 (GRCm39)	missense	probably damaging	0.98
IGL03121:Pnpt1	APN	11	29,082,845 (GRCm39)	missense	probably benign	0.03
PIT4651001:Pnpt1	UTSW	11	29,106,945 (GRCm39)	critical splice donor site	probably null
R1023:Pnpt1	UTSW	11	29,091,328 (GRCm39)	splice site	probably benign
R1477:Pnpt1	UTSW	11	29,087,102 (GRCm39)	missense	probably benign	0.14
R1524:Pnpt1	UTSW	11	29,080,776 (GRCm39)	missense	unknown
R1769:Pnpt1	UTSW	11	29,104,159 (GRCm39)	missense	probably benign	0.22
R1839:Pnpt1	UTSW	11	29,104,342 (GRCm39)	missense	possibly damaging	0.82
R1975:Pnpt1	UTSW	11	29,091,256 (GRCm39)	missense	probably benign	0.16
R1977:Pnpt1	UTSW	11	29,091,256 (GRCm39)	missense	probably benign	0.16
R1996:Pnpt1	UTSW	11	29,091,679 (GRCm39)	missense	probably benign	0.01
R3771:Pnpt1	UTSW	11	29,088,174 (GRCm39)	missense	probably benign	0.05
R4346:Pnpt1	UTSW	11	29,095,478 (GRCm39)	missense	probably damaging	1.00
R4423:Pnpt1	UTSW	11	29,103,375 (GRCm39)	splice site	probably null
R5354:Pnpt1	UTSW	11	29,104,166 (GRCm39)	missense	probably damaging	1.00
R5503:Pnpt1	UTSW	11	29,088,156 (GRCm39)	missense	probably damaging	1.00
R5514:Pnpt1	UTSW	11	29,103,246 (GRCm39)	missense	possibly damaging	0.82
R5908:Pnpt1	UTSW	11	29,080,887 (GRCm39)	missense	probably benign	0.00
R6225:Pnpt1	UTSW	11	29,095,469 (GRCm39)	missense	probably benign	0.38
R6605:Pnpt1	UTSW	11	29,088,567 (GRCm39)	missense	possibly damaging	0.69
R7096:Pnpt1	UTSW	11	29,104,867 (GRCm39)	missense	probably benign	0.03
R7214:Pnpt1	UTSW	11	29,087,285 (GRCm39)	missense	probably damaging	1.00
R7365:Pnpt1	UTSW	11	29,111,334 (GRCm39)	missense	probably damaging	1.00
R7497:Pnpt1	UTSW	11	29,080,860 (GRCm39)	missense	probably benign	0.00
R7686:Pnpt1	UTSW	11	29,107,070 (GRCm39)	missense	probably damaging	0.97
R8166:Pnpt1	UTSW	11	29,106,875 (GRCm39)	missense	probably benign
R8309:Pnpt1	UTSW	11	29,103,277 (GRCm39)	missense	probably benign	0.01
R8389:Pnpt1	UTSW	11	29,080,758 (GRCm39)	start codon destroyed	unknown
R8542:Pnpt1	UTSW	11	29,082,773 (GRCm39)	splice site	probably null
R8737:Pnpt1	UTSW	11	29,104,815 (GRCm39)	critical splice acceptor site	probably null
R8876:Pnpt1	UTSW	11	29,096,769 (GRCm39)	intron	probably benign
R9308:Pnpt1	UTSW	11	29,097,535 (GRCm39)	critical splice donor site	probably null
R9545:Pnpt1	UTSW	11	29,106,840 (GRCm39)	missense	probably benign	0.13
Z1176:Pnpt1	UTSW	11	29,095,477 (GRCm39)	missense	possibly damaging	0.80
Z1176:Pnpt1	UTSW	11	29,095,475 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGACATCTGCAAATACTGTGGG -3'
(R):5'- GGTGTCAGCACAAAATGATACC -3'

Sequencing Primer
(F):5'- GCAAATACTGTGGGATCATTTATAGC -3'
(R):5'- GCACAAAATGATACCAATCACATGG -3'

Posted On

2019-10-17