Incidental Mutation 'R5539:Pan2'
| ID |
435832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| MMRRC Submission |
043097-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5539 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128144002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 99
(D99E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000218315]
[ENSMUST00000219721]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005825
AA Change: D117E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: D117E
| 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 |
probably benign
Transcript: ENSMUST00000218315
AA Change: D117E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219721
AA Change: D99E
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219801
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,917 (GRCm39) |
S44C |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,963,557 (GRCm39) |
I846V |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,111,932 (GRCm39) |
L144H |
probably benign |
Het |
| Ccdc141 |
A |
T |
2: 76,845,437 (GRCm39) |
I1210N |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,191,587 (GRCm39) |
T330A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,486 (GRCm39) |
K2444E |
probably benign |
Het |
| Dnajc3 |
G |
A |
14: 119,208,159 (GRCm39) |
V265M |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,753 (GRCm39) |
Y2222N |
unknown |
Het |
| Flnc |
G |
T |
6: 29,446,229 (GRCm39) |
G882V |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,032,514 (GRCm39) |
V39D |
probably damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,281,758 (GRCm39) |
H371L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,030,438 (GRCm39) |
H33L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,646 (GRCm39) |
|
noncoding transcript |
Het |
| Kri1 |
G |
A |
9: 21,190,668 (GRCm39) |
Q280* |
probably null |
Het |
| Lcp1 |
T |
C |
14: 75,466,738 (GRCm39) |
V615A |
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,027,149 (GRCm39) |
Y407C |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,164,317 (GRCm39) |
V416A |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,044,898 (GRCm39) |
R1607C |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,056,525 (GRCm39) |
|
probably null |
Het |
| Ntf5 |
G |
T |
7: 45,065,354 (GRCm39) |
R162L |
probably benign |
Het |
| Nxpe3 |
A |
G |
16: 55,711,034 (GRCm39) |
W2R |
possibly damaging |
Het |
| Or10d1c |
T |
C |
9: 38,893,573 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or14j4 |
T |
A |
17: 37,921,646 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
G |
A |
9: 18,666,134 (GRCm39) |
R266C |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,433 (GRCm39) |
C115S |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,797 (GRCm39) |
H776R |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,264 (GRCm39) |
H1342R |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,394,464 (GRCm39) |
T1800A |
probably benign |
Het |
| Prss40 |
T |
C |
1: 34,591,760 (GRCm39) |
*148W |
probably null |
Het |
| Pygo1 |
C |
T |
9: 72,852,061 (GRCm39) |
P83S |
probably damaging |
Het |
| Raf1 |
G |
T |
6: 115,596,317 (GRCm39) |
S619R |
probably damaging |
Het |
| Rtf1 |
A |
G |
2: 119,560,405 (GRCm39) |
M596V |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,829,126 (GRCm39) |
D578E |
possibly damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,153,737 (GRCm39) |
V18A |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,070,783 (GRCm39) |
I977K |
probably benign |
Het |
| Tor2a |
T |
C |
2: 32,650,672 (GRCm39) |
I222T |
probably damaging |
Het |
| Trim23 |
T |
C |
13: 104,334,541 (GRCm39) |
V347A |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,851,386 (GRCm39) |
S893P |
probably damaging |
Het |
| Trmt10c |
G |
A |
16: 55,855,324 (GRCm39) |
P104S |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,850,877 (GRCm39) |
Y1765F |
probably damaging |
Het |
| Zfp951 |
C |
T |
5: 104,962,712 (GRCm39) |
E285K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACTGGTCCCTAGCCATAC -3'
(R):5'- TTTTCATCCAGCCTGCGTGAG -3'
Sequencing Primer
(F):5'- CGCCTCTGTTGTCTAGACAGAAAG -3'
(R):5'- TCCAGCCTGCGTGAGAAGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation