Incidental Mutation 'R2900:Pan2'
ID |
261446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pan2
|
Ensembl Gene |
ENSMUSG00000005682 |
Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
Synonyms |
Usp52, 1200014O24Rik |
MMRRC Submission |
040488-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2900 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128144211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 135
(D135E)
|
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: D153E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000005825 Gene: ENSMUSG00000005682 AA Change: D153E
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: D153E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219721
AA Change: D135E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219801
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak9 |
C |
T |
10: 41,300,751 (GRCm39) |
H1654Y |
unknown |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Cmtm1 |
A |
G |
8: 105,036,176 (GRCm39) |
V151A |
possibly damaging |
Het |
Coro6 |
A |
G |
11: 77,358,639 (GRCm39) |
I233V |
probably benign |
Het |
Cyp26b1 |
C |
T |
6: 84,553,623 (GRCm39) |
R252H |
possibly damaging |
Het |
Dcdc2a |
C |
A |
13: 25,304,481 (GRCm39) |
D351E |
probably benign |
Het |
Flnc |
T |
C |
6: 29,448,584 (GRCm39) |
F1274S |
probably damaging |
Het |
Fut7 |
A |
G |
2: 25,313,923 (GRCm39) |
K33E |
probably benign |
Het |
Gpsm1 |
G |
T |
2: 26,235,174 (GRCm39) |
V480L |
probably benign |
Het |
Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
Ighv1-4 |
A |
G |
12: 114,450,788 (GRCm39) |
S107P |
probably benign |
Het |
Itsn2 |
T |
C |
12: 4,680,713 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
Ms4a6d |
C |
T |
19: 11,567,508 (GRCm39) |
G23D |
probably damaging |
Het |
Pdlim1 |
C |
T |
19: 40,211,519 (GRCm39) |
C258Y |
probably damaging |
Het |
Ppp6r2 |
C |
A |
15: 89,166,198 (GRCm39) |
P734H |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Stat5a |
G |
A |
11: 100,764,957 (GRCm39) |
V227M |
probably benign |
Het |
Strip2 |
A |
T |
6: 29,939,034 (GRCm39) |
|
probably null |
Het |
Syn2 |
C |
T |
6: 115,214,295 (GRCm39) |
T173I |
possibly damaging |
Het |
Thbd |
C |
A |
2: 148,248,134 (GRCm39) |
*578L |
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,754,786 (GRCm39) |
I286T |
probably benign |
Het |
Zfp566 |
T |
C |
7: 29,777,668 (GRCm39) |
D171G |
possibly damaging |
Het |
Zfp938 |
T |
C |
10: 82,061,340 (GRCm39) |
R427G |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCTTTCAGGTCAATGGTGG -3'
(R):5'- ACCATGACTTCAGGTCCCAC -3'
Sequencing Primer
(F):5'- TTCGGCAAATCCAGAGCCTG -3'
(R):5'- ACAAGGGTCTTTCCTGGACAC -3'
|
Posted On |
2015-01-23 |