Incidental Mutation 'IGL02552:Pan2'
| ID |
298136 |
| 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 # |
IGL02552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 128154896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 1112
(W1112L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000026446]
[ENSMUST00000218315]
[ENSMUST00000219037]
[ENSMUST00000219721]
[ENSMUST00000219836]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005825
AA Change: W1121L
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: W1121L
| 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 damaging
Transcript: ENSMUST00000218315
AA Change: W1112L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000219721
AA Change: W1094L
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,208,145 (GRCm39) |
L178S |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,333,906 (GRCm39) |
Y1199H |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,446,035 (GRCm39) |
M977K |
possibly damaging |
Het |
| Arhgap30 |
T |
A |
1: 171,235,324 (GRCm39) |
L566Q |
probably damaging |
Het |
| Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,332,965 (GRCm39) |
S349F |
possibly damaging |
Het |
| Bard1 |
T |
C |
1: 71,104,815 (GRCm39) |
|
probably benign |
Het |
| Batf2 |
T |
A |
19: 6,221,537 (GRCm39) |
Y116N |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,642,605 (GRCm39) |
L10* |
probably null |
Het |
| Cbx6 |
T |
C |
15: 79,713,094 (GRCm39) |
H111R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,679,076 (GRCm39) |
N242I |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,525,012 (GRCm39) |
Q184* |
probably null |
Het |
| Chd2 |
C |
A |
7: 73,097,068 (GRCm39) |
|
probably benign |
Het |
| Cmtm6 |
G |
A |
9: 114,566,374 (GRCm39) |
V88M |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,179,962 (GRCm39) |
S1151R |
possibly damaging |
Het |
| Csta2 |
A |
G |
16: 36,073,459 (GRCm39) |
E15G |
probably damaging |
Het |
| Degs1l |
T |
A |
1: 180,882,463 (GRCm39) |
V75E |
possibly damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,988,061 (GRCm39) |
D6G |
probably damaging |
Het |
| Eif3a |
G |
A |
19: 60,751,664 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,254,633 (GRCm39) |
C210F |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,286 (GRCm39) |
D1380E |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,304,375 (GRCm39) |
K588N |
probably damaging |
Het |
| Gm18856 |
G |
A |
13: 14,139,805 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
G |
T |
6: 25,688,686 (GRCm39) |
T137K |
probably benign |
Het |
| Gzmc |
T |
C |
14: 56,472,039 (GRCm39) |
M1V |
probably null |
Het |
| Htr5a |
T |
C |
5: 28,047,958 (GRCm39) |
V171A |
probably benign |
Het |
| Ints6l |
T |
C |
X: 55,500,557 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,436,327 (GRCm39) |
|
probably null |
Het |
| Krt35 |
C |
T |
11: 99,983,899 (GRCm39) |
G367D |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,063,057 (GRCm39) |
V668I |
possibly damaging |
Het |
| Nlrp1b |
C |
T |
11: 71,072,878 (GRCm39) |
V322I |
possibly damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,823 (GRCm39) |
N228D |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,655,994 (GRCm39) |
R496W |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,903 (GRCm39) |
V250A |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,671,463 (GRCm39) |
G21W |
probably damaging |
Het |
| Pah |
C |
T |
10: 87,414,707 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
G |
A |
2: 29,970,879 (GRCm39) |
R209Q |
probably damaging |
Het |
| Plaa |
C |
T |
4: 94,470,717 (GRCm39) |
|
probably null |
Het |
| Qprt |
C |
T |
7: 126,708,027 (GRCm39) |
A135T |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,582,204 (GRCm39) |
S108A |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,795,117 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,125,235 (GRCm39) |
C368S |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,908,486 (GRCm39) |
I1734N |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,669,031 (GRCm39) |
L170F |
probably damaging |
Het |
| Tesmin |
C |
T |
19: 3,452,483 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,949,530 (GRCm39) |
C1697* |
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,785,690 (GRCm39) |
S587P |
probably benign |
Het |
| Tmem208 |
G |
A |
8: 106,055,329 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,121,623 (GRCm39) |
Q224R |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,682,699 (GRCm39) |
D390V |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,858,589 (GRCm39) |
I807V |
probably benign |
Het |
| Utp18 |
C |
A |
11: 93,759,160 (GRCm39) |
C438F |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,899,707 (GRCm39) |
K191E |
possibly damaging |
Het |
| Wdr27 |
A |
G |
17: 15,146,453 (GRCm39) |
S181P |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
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 |
|
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 |
|
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