Incidental Mutation 'IGL03104:Pan2'
ID |
418894 |
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 # |
IGL03104
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 128151532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000218315]
[ENSMUST00000219721]
|
AlphaFold |
Q8BGF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005825
|
SMART Domains |
Protein: ENSMUSP00000005825 Gene: ENSMUSG00000005682
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: ENSMUST00000218315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219721
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
C |
A |
1: 58,321,918 (GRCm39) |
T70K |
probably benign |
Het |
Armt1 |
T |
A |
10: 4,389,615 (GRCm39) |
Y91N |
possibly damaging |
Het |
Atp1a2 |
A |
G |
1: 172,120,934 (GRCm39) |
L46S |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,941,743 (GRCm39) |
S1488P |
probably damaging |
Het |
Coro7 |
T |
A |
16: 4,446,990 (GRCm39) |
E793V |
probably damaging |
Het |
Ctnnbl1 |
G |
T |
2: 157,732,885 (GRCm39) |
R555L |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,743,666 (GRCm39) |
C268R |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,847,260 (GRCm39) |
M1684K |
possibly damaging |
Het |
Dock8 |
T |
A |
19: 25,178,384 (GRCm39) |
C2092* |
probably null |
Het |
Dtx1 |
T |
A |
5: 120,833,030 (GRCm39) |
Q136L |
possibly damaging |
Het |
Egln3 |
C |
T |
12: 54,249,981 (GRCm39) |
|
probably benign |
Het |
Eml5 |
A |
T |
12: 98,827,504 (GRCm39) |
Y575* |
probably null |
Het |
Entpd5 |
A |
T |
12: 84,431,022 (GRCm39) |
V310E |
probably damaging |
Het |
Fkbp5 |
A |
G |
17: 28,634,946 (GRCm39) |
F188L |
probably damaging |
Het |
Frrs1 |
T |
C |
3: 116,675,431 (GRCm39) |
S120P |
probably benign |
Het |
Gadl1 |
T |
C |
9: 115,903,108 (GRCm39) |
I479T |
possibly damaging |
Het |
Gfra2 |
A |
T |
14: 71,205,725 (GRCm39) |
M106L |
probably benign |
Het |
Gm17455 |
T |
A |
10: 60,239,060 (GRCm39) |
C108* |
probably null |
Het |
Grhpr |
A |
G |
4: 44,983,867 (GRCm39) |
|
probably benign |
Het |
Hsp90ab1 |
G |
A |
17: 45,882,449 (GRCm39) |
R82C |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,226,905 (GRCm39) |
Y2256C |
probably damaging |
Het |
Ivd |
A |
T |
2: 118,703,384 (GRCm39) |
I160F |
probably benign |
Het |
Krtap5-5 |
A |
G |
7: 141,783,450 (GRCm39) |
C67R |
unknown |
Het |
Lhx4 |
A |
T |
1: 155,580,967 (GRCm39) |
V186E |
probably damaging |
Het |
Lrrk2 |
T |
C |
15: 91,631,958 (GRCm39) |
I1294T |
possibly damaging |
Het |
Map3k5 |
C |
T |
10: 20,007,801 (GRCm39) |
S1202L |
probably benign |
Het |
Mdfic |
T |
A |
6: 15,770,319 (GRCm39) |
N108K |
probably damaging |
Het |
Mov10 |
G |
A |
3: 104,704,623 (GRCm39) |
R763W |
probably damaging |
Het |
Mto1 |
T |
C |
9: 78,356,802 (GRCm39) |
S106P |
probably damaging |
Het |
Naca |
C |
T |
10: 127,876,233 (GRCm39) |
|
probably benign |
Het |
Or10j27 |
A |
G |
1: 172,958,526 (GRCm39) |
V86A |
probably benign |
Het |
Or8s10 |
A |
G |
15: 98,336,127 (GRCm39) |
Y259C |
possibly damaging |
Het |
Pold1 |
T |
C |
7: 44,190,004 (GRCm39) |
Y394C |
probably damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,388,904 (GRCm39) |
S377T |
probably benign |
Het |
Sirpd |
G |
T |
3: 15,397,283 (GRCm39) |
|
probably benign |
Het |
Slc36a3 |
A |
G |
11: 55,015,946 (GRCm39) |
S403P |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,297,231 (GRCm39) |
T480A |
probably damaging |
Het |
Slu7 |
G |
A |
11: 43,332,883 (GRCm39) |
V315I |
probably benign |
Het |
St6galnac3 |
T |
C |
3: 152,911,115 (GRCm39) |
E282G |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,509,685 (GRCm39) |
V855A |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,962,717 (GRCm39) |
D350G |
probably benign |
Het |
Vmn1r53 |
T |
A |
6: 90,200,944 (GRCm39) |
K127* |
probably null |
Het |
Vmn1r72 |
T |
G |
7: 11,403,812 (GRCm39) |
H212P |
probably damaging |
Het |
Vmn2r86 |
T |
A |
10: 130,282,501 (GRCm39) |
Q705L |
probably damaging |
Het |
Vps33b |
C |
T |
7: 79,925,831 (GRCm39) |
R93C |
probably damaging |
Het |
Wdr91 |
T |
A |
6: 34,882,491 (GRCm39) |
E219D |
probably benign |
Het |
Zan |
G |
A |
5: 137,461,762 (GRCm39) |
T1139I |
unknown |
Het |
Zc3hav1 |
T |
A |
6: 38,317,278 (GRCm39) |
K107N |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,187,784 (GRCm39) |
E1150G |
possibly 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 |
IGL02219:Pan2
|
APN |
10 |
128,156,221 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
|
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 |
2016-08-02 |