Incidental Mutation 'R9545:Pnpt1'
| ID |
720070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpt1
|
| Ensembl Gene |
ENSMUSG00000020464 |
| Gene Name |
polyribonucleotide nucleotidyltransferase 1 |
| Synonyms |
1200003F12Rik, polynucleotide phosphorylase, PNPase |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29080744-29111828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29106840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 637
(V637A)
|
| 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: V637A
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020756
Gene: ENSMUSG00000020464
AA Change: V637A
| 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 |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,416,538 (GRCm39) |
L4100Q |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,403,716 (GRCm39) |
P652T |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,582,338 (GRCm39) |
I228N |
possibly damaging |
Het |
| Ap5m1 |
C |
G |
14: 49,311,271 (GRCm39) |
Q114E |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,033,890 (GRCm39) |
T201I |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,696,233 (GRCm39) |
V14I |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,464 (GRCm39) |
N258S |
probably benign |
Het |
| Atxn1l |
C |
T |
8: 110,458,688 (GRCm39) |
V525M |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,644,804 (GRCm39) |
V208A |
probably benign |
Het |
| Bet1 |
A |
T |
6: 4,077,973 (GRCm39) |
S89T |
probably damaging |
Het |
| Cdhr1 |
T |
G |
14: 36,817,016 (GRCm39) |
N115T |
possibly damaging |
Het |
| Cstf1 |
C |
T |
2: 172,212,885 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
G |
T |
12: 28,602,295 (GRCm39) |
T3K |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,519,120 (GRCm39) |
E129K |
possibly damaging |
Het |
| Dgkg |
T |
C |
16: 22,385,168 (GRCm39) |
E446G |
possibly damaging |
Het |
| Dolk |
A |
G |
2: 30,176,016 (GRCm39) |
S10P |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,800,977 (GRCm39) |
T406A |
probably benign |
Het |
| Gm8439 |
C |
T |
4: 120,445,957 (GRCm39) |
|
probably benign |
Het |
| Gna12 |
A |
G |
5: 140,746,575 (GRCm39) |
I290T |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,458,112 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Kcnc3 |
T |
C |
7: 44,245,357 (GRCm39) |
L549P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,164 (GRCm39) |
D582G |
probably damaging |
Het |
| Lhfpl5 |
C |
A |
17: 28,799,079 (GRCm39) |
A196D |
probably damaging |
Het |
| Lipm |
T |
C |
19: 34,090,392 (GRCm39) |
M191T |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,483,329 (GRCm39) |
Y459H |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,286 (GRCm39) |
K287N |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmp23 |
T |
A |
4: 155,735,980 (GRCm39) |
Q224L |
probably benign |
Het |
| Ms4a13 |
C |
G |
19: 11,147,332 (GRCm39) |
S194T |
unknown |
Het |
| Ms4a2 |
A |
G |
19: 11,596,237 (GRCm39) |
F164S |
probably benign |
Het |
| Nudt15 |
A |
T |
14: 73,760,918 (GRCm39) |
C58S |
probably damaging |
Het |
| Or2w25 |
A |
G |
11: 59,504,275 (GRCm39) |
T162A |
probably benign |
Het |
| Or8h6 |
T |
C |
2: 86,703,615 (GRCm39) |
I151V |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,217 (GRCm39) |
H20R |
possibly damaging |
Het |
| Panx3 |
A |
G |
9: 37,575,437 (GRCm39) |
F142L |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,422,365 (GRCm39) |
Y255H |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,337,504 (GRCm39) |
L602P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,214 (GRCm39) |
N370D |
probably benign |
Het |
| Ppp2r5d |
A |
T |
17: 46,995,687 (GRCm39) |
I454N |
probably damaging |
Het |
| Pramel17 |
C |
A |
4: 101,693,097 (GRCm39) |
C301F |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,492,392 (GRCm39) |
V412A |
probably benign |
Het |
| Reep3 |
TTGACAGATTTCATG |
TTG |
10: 66,850,703 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skic3 |
T |
A |
13: 76,259,832 (GRCm39) |
V44D |
probably damaging |
Het |
| Spink5 |
G |
A |
18: 44,136,262 (GRCm39) |
V558I |
possibly damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,625 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
A |
2: 164,079,313 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,834 (GRCm39) |
N95K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,336,112 (GRCm39) |
V718A |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,878,458 (GRCm39) |
E632K |
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,843,638 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,618,511 (GRCm39) |
I1163T |
probably benign |
Het |
| Vav2 |
C |
T |
2: 27,173,351 (GRCm39) |
R491Q |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,399,050 (GRCm39) |
F40I |
probably damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,100,957 (GRCm39) |
I220R |
|
Het |
| Xrra1 |
T |
A |
7: 99,535,334 (GRCm39) |
V213D |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,051,415 (GRCm39) |
V550E |
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 |
|
R7492:Pnpt1
|
UTSW |
11 |
29,085,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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'- TGAGCAGTTCCCGTCACTAC -3'
(R):5'- CCTGATTTCAGTTATTGTCGCG -3'
Sequencing Primer
(F):5'- GTCACTACGGGACTAACATTAAGC -3'
(R):5'- CAGTTATTGTCGCGGTATAAACTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation