Incidental Mutation 'IGL02514:Pan2'
| ID |
296672 |
| 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 # |
IGL02514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128146610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 416
(M416L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000218315]
[ENSMUST00000219721]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005825
AA Change: M434L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: M434L
| 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 |
noncoding transcript
Transcript: ENSMUST00000218137
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218315
AA Change: M434L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219721
AA Change: M416L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219801
|
| 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 |
|---|
| 2310009B15Rik |
A |
T |
1: 138,779,909 (GRCm39) |
C114* |
probably null |
Het |
| 4933421I07Rik |
A |
G |
7: 42,096,981 (GRCm39) |
M110T |
probably damaging |
Het |
| Amer1 |
A |
G |
X: 94,470,117 (GRCm39) |
V667A |
possibly damaging |
Het |
| Casr |
C |
T |
16: 36,320,687 (GRCm39) |
G487E |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,271 (GRCm39) |
G552D |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,826 (GRCm39) |
V2208A |
probably benign |
Het |
| Cibar1 |
T |
G |
4: 12,164,080 (GRCm39) |
|
probably benign |
Het |
| Clca4a |
G |
A |
3: 144,660,832 (GRCm39) |
S664F |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,556,199 (GRCm39) |
S40T |
unknown |
Het |
| Dhodh |
G |
A |
8: 110,332,896 (GRCm39) |
R58* |
probably null |
Het |
| Dhx36 |
A |
G |
3: 62,408,319 (GRCm39) |
L173S |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,159,872 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,565,470 (GRCm39) |
D2546G |
probably damaging |
Het |
| Eef2 |
T |
G |
10: 81,015,427 (GRCm39) |
I316S |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,917,143 (GRCm39) |
D139G |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,755,512 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,505 (GRCm39) |
I357N |
possibly damaging |
Het |
| Elovl2 |
G |
A |
13: 41,348,247 (GRCm39) |
T44M |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,128,463 (GRCm39) |
C553* |
probably null |
Het |
| Fip1l1 |
T |
C |
5: 74,731,813 (GRCm39) |
V310A |
probably damaging |
Het |
| Gast |
A |
G |
11: 100,227,718 (GRCm39) |
D100G |
probably benign |
Het |
| Gk |
G |
A |
X: 84,756,970 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,841,305 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,296,887 (GRCm39) |
T4355K |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,035 (GRCm39) |
V639A |
possibly damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,865,929 (GRCm39) |
M1271V |
probably damaging |
Het |
| Msantd1 |
T |
A |
5: 35,078,887 (GRCm39) |
S141T |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,743,650 (GRCm39) |
I237T |
probably damaging |
Het |
| Or10ag59 |
G |
A |
2: 87,405,537 (GRCm39) |
M36I |
probably benign |
Het |
| Or13a21 |
A |
T |
7: 139,999,507 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,469 (GRCm39) |
F28S |
probably damaging |
Het |
| Or4k40 |
A |
C |
2: 111,251,117 (GRCm39) |
Y60D |
probably damaging |
Het |
| Pank4 |
T |
C |
4: 155,054,922 (GRCm39) |
F209L |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,044 (GRCm39) |
I141L |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,223,236 (GRCm39) |
Y422H |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,719,772 (GRCm39) |
K198E |
probably benign |
Het |
| Prdm4 |
A |
T |
10: 85,743,781 (GRCm39) |
I158N |
probably damaging |
Het |
| Prl |
T |
G |
13: 27,243,377 (GRCm39) |
L14R |
probably damaging |
Het |
| Rabl6 |
C |
A |
2: 25,498,188 (GRCm39) |
A23S |
probably damaging |
Het |
| Rbm15b |
T |
A |
9: 106,762,176 (GRCm39) |
H664L |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,125,471 (GRCm39) |
H618Q |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,724,452 (GRCm39) |
K140R |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,402,993 (GRCm39) |
S145P |
possibly damaging |
Het |
| Snx31 |
T |
C |
15: 36,525,728 (GRCm39) |
T324A |
probably damaging |
Het |
| Spatc1l |
T |
C |
10: 76,405,490 (GRCm39) |
|
probably benign |
Het |
| Taar7b |
A |
G |
10: 23,876,882 (GRCm39) |
N349S |
probably benign |
Het |
| Tbx19 |
T |
C |
1: 164,981,273 (GRCm39) |
I74V |
probably benign |
Het |
| Tmtc2 |
G |
A |
10: 105,025,960 (GRCm39) |
T836I |
possibly damaging |
Het |
| Vmn2r72 |
C |
A |
7: 85,387,907 (GRCm39) |
M552I |
possibly damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,338 (GRCm39) |
T199A |
probably benign |
Het |
| Washc4 |
A |
T |
10: 83,405,947 (GRCm39) |
E481V |
probably damaging |
Het |
| Zc3h15 |
T |
A |
2: 83,483,725 (GRCm39) |
N33K |
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 |
|
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