Incidental Mutation 'IGL02219:Pan2'
| ID |
285068 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128156221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1133
(E1133K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000026446]
[ENSMUST00000218315]
[ENSMUST00000219037]
[ENSMUST00000219721]
[ENSMUST00000219836]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005825
AA Change: E1160K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: E1160K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
79 |
N/A |
INTRINSIC |
|
SCOP:d1tbga_
|
151 |
357 |
4e-11 |
SMART |
|
Blast:WD40
|
225 |
271 |
4e-11 |
BLAST |
|
low complexity region
|
412 |
425 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
515 |
920 |
2.6e-15 |
PFAM |
|
Pfam:UCH_1
|
516 |
897 |
9.7e-70 |
PFAM |
|
low complexity region
|
938 |
949 |
N/A |
INTRINSIC |
|
EXOIII
|
972 |
1155 |
1.68e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026446
|
| SMART Domains |
Protein: ENSMUSP00000026446
Gene: ENSMUSG00000025381
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:DUF3456
|
27 |
171 |
1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218315
AA Change: E1151K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219721
AA Change: E1133K
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220391
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
A |
T |
1: 192,515,691 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb10 |
G |
A |
8: 124,681,166 (GRCm39) |
H677Y |
probably benign |
Het |
| Ager |
T |
C |
17: 34,819,094 (GRCm39) |
V314A |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,586,683 (GRCm39) |
M158V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,107,298 (GRCm39) |
Q741* |
probably null |
Het |
| Atp1a2 |
A |
T |
1: 172,107,285 (GRCm39) |
M745K |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,656 (GRCm39) |
S577P |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,926,872 (GRCm39) |
L497P |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,780,773 (GRCm39) |
I1219N |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,083,255 (GRCm39) |
Y153N |
probably damaging |
Het |
| Cep250 |
T |
G |
2: 155,833,514 (GRCm39) |
V1812G |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,556,643 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
A |
9: 78,324,001 (GRCm39) |
M444K |
probably damaging |
Het |
| Dnm1 |
A |
T |
2: 32,213,462 (GRCm39) |
M506K |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,125,145 (GRCm39) |
H352Q |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,060 (GRCm39) |
Y1675H |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,174 (GRCm39) |
T1498A |
probably benign |
Het |
| Gcn1 |
A |
T |
5: 115,751,826 (GRCm39) |
Q2067L |
possibly damaging |
Het |
| Get4 |
G |
T |
5: 139,249,384 (GRCm39) |
|
probably null |
Het |
| Gm6370 |
G |
A |
5: 146,430,453 (GRCm39) |
A213T |
possibly damaging |
Het |
| Gpr135 |
T |
C |
12: 72,117,047 (GRCm39) |
Y240C |
probably damaging |
Het |
| Gstm5 |
T |
A |
3: 107,805,347 (GRCm39) |
L145Q |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,986 (GRCm39) |
Y355H |
probably damaging |
Het |
| Hsf2 |
A |
C |
10: 57,372,370 (GRCm39) |
K108Q |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,577,718 (GRCm39) |
N694S |
probably benign |
Het |
| Lrpap1 |
G |
A |
5: 35,253,411 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,532 (GRCm39) |
T1162A |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,540 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,477 (GRCm39) |
Y90C |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,951,368 (GRCm39) |
|
probably null |
Het |
| Nup88 |
C |
T |
11: 70,860,518 (GRCm39) |
G87D |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,317 (GRCm39) |
Y258C |
possibly damaging |
Het |
| Or7d9 |
A |
T |
9: 20,197,756 (GRCm39) |
T254S |
probably benign |
Het |
| Or9i1 |
C |
T |
19: 13,839,187 (GRCm39) |
T10M |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,635,045 (GRCm39) |
S307P |
probably damaging |
Het |
| Pdgfa |
C |
T |
5: 138,971,950 (GRCm39) |
V150I |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,875,022 (GRCm39) |
C83R |
probably damaging |
Het |
| Pla2g2c |
A |
G |
4: 138,463,319 (GRCm39) |
Y71C |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,797,107 (GRCm39) |
Q218L |
probably damaging |
Het |
| Prl8a9 |
C |
T |
13: 27,743,353 (GRCm39) |
V151I |
possibly damaging |
Het |
| Prop1 |
T |
C |
11: 50,842,911 (GRCm39) |
D92G |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,703,644 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,637,013 (GRCm39) |
C400R |
possibly damaging |
Het |
| Scrib |
T |
A |
15: 75,936,885 (GRCm39) |
K383* |
probably null |
Het |
| Slc44a5 |
T |
C |
3: 153,944,796 (GRCm39) |
Y138H |
possibly damaging |
Het |
| Stra6 |
G |
A |
9: 58,047,752 (GRCm39) |
V108M |
probably benign |
Het |
| Tspan10 |
G |
T |
11: 120,337,198 (GRCm39) |
A323S |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,495,687 (GRCm39) |
V347D |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 87,983,780 (GRCm39) |
L193F |
probably benign |
Het |
| Vps13d |
G |
T |
4: 144,894,716 (GRCm39) |
H457N |
probably benign |
Het |
| Vrtn |
A |
G |
12: 84,695,607 (GRCm39) |
Y119C |
probably damaging |
Het |
| Xpnpep3 |
T |
C |
15: 81,311,657 (GRCm39) |
F121S |
probably damaging |
Het |
|
| Other mutations in Pan2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Pan2
|
APN |
10 |
128,148,795 (GRCm39) |
nonsense |
probably null |
|
|
IGL02183:Pan2
|
APN |
10 |
128,144,944 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02514:Pan2
|
APN |
10 |
128,146,610 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02552:Pan2
|
APN |
10 |
128,154,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02623:Pan2
|
APN |
10 |
128,148,768 (GRCm39) |
missense |
probably benign |
|
|
IGL02860:Pan2
|
APN |
10 |
128,146,604 (GRCm39) |
nonsense |
probably null |
|
|
IGL03104:Pan2
|
APN |
10 |
128,151,532 (GRCm39) |
splice site |
probably benign |
|
|
IGL03372:Pan2
|
APN |
10 |
128,150,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0541:Pan2
|
UTSW |
10 |
128,144,091 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0585:Pan2
|
UTSW |
10 |
128,146,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1079:Pan2
|
UTSW |
10 |
128,154,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1650:Pan2
|
UTSW |
10 |
128,153,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Pan2
|
UTSW |
10 |
128,140,247 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1867:Pan2
|
UTSW |
10 |
128,149,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Pan2
|
UTSW |
10 |
128,144,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1975:Pan2
|
UTSW |
10 |
128,156,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1976:Pan2
|
UTSW |
10 |
128,156,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1977:Pan2
|
UTSW |
10 |
128,156,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2136:Pan2
|
UTSW |
10 |
128,149,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2162:Pan2
|
UTSW |
10 |
128,140,091 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2512:Pan2
|
UTSW |
10 |
128,140,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Pan2
|
UTSW |
10 |
128,149,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2900:Pan2
|
UTSW |
10 |
128,144,211 (GRCm39) |
missense |
probably benign |
|
|
R3957:Pan2
|
UTSW |
10 |
128,151,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4571:Pan2
|
UTSW |
10 |
128,144,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5112:Pan2
|
UTSW |
10 |
128,151,464 (GRCm39) |
nonsense |
probably null |
|
|
R5120:Pan2
|
UTSW |
10 |
128,150,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5183:Pan2
|
UTSW |
10 |
128,153,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5325:Pan2
|
UTSW |
10 |
128,153,503 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5539:Pan2
|
UTSW |
10 |
128,144,002 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5642:Pan2
|
UTSW |
10 |
128,143,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5740:Pan2
|
UTSW |
10 |
128,144,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Pan2
|
UTSW |
10 |
128,156,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6766:Pan2
|
UTSW |
10 |
128,150,381 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6902:Pan2
|
UTSW |
10 |
128,151,506 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6946:Pan2
|
UTSW |
10 |
128,151,506 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7206:Pan2
|
UTSW |
10 |
128,150,414 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Pan2
|
UTSW |
10 |
128,144,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7715:Pan2
|
UTSW |
10 |
128,153,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7794:Pan2
|
UTSW |
10 |
128,152,396 (GRCm39) |
splice site |
probably null |
|
|
R8286:Pan2
|
UTSW |
10 |
128,154,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Pan2
|
UTSW |
10 |
128,153,810 (GRCm39) |
nonsense |
probably null |
|
|
R9057:Pan2
|
UTSW |
10 |
128,156,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Pan2
|
UTSW |
10 |
128,151,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9073:Pan2
|
UTSW |
10 |
128,151,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9077:Pan2
|
UTSW |
10 |
128,148,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Pan2
|
UTSW |
10 |
128,140,135 (GRCm39) |
missense |
probably benign |
|
|
R9787:Pan2
|
UTSW |
10 |
128,144,223 (GRCm39) |
missense |
probably benign |
0.05 |
|
RF005:Pan2
|
UTSW |
10 |
128,151,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF024:Pan2
|
UTSW |
10 |
128,151,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pan2
|
UTSW |
10 |
128,150,368 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Pan2
|
UTSW |
10 |
128,140,279 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation