Incidental Mutation 'IGL03372:Pan2'
| ID |
420332 |
| 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 # |
IGL03372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128150996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 771
(L771Q)
|
| 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: L789Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: L789Q
| 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
AA Change: L789Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219721
AA Change: L771Q
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,911,362 (GRCm39) |
A1161V |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,350 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
T |
2: 153,242,333 (GRCm39) |
N961I |
probably damaging |
Het |
| Bcl2l10 |
A |
G |
9: 75,255,329 (GRCm39) |
I49V |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,962,578 (GRCm39) |
|
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,597 (GRCm39) |
M54V |
probably benign |
Het |
| Cep72 |
A |
C |
13: 74,191,637 (GRCm39) |
L200V |
possibly damaging |
Het |
| Clic4 |
T |
C |
4: 134,945,925 (GRCm39) |
D164G |
probably damaging |
Het |
| Col5a3 |
G |
A |
9: 20,686,624 (GRCm39) |
P1334S |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,459,030 (GRCm39) |
L293P |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,479,109 (GRCm39) |
S140T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,052,833 (GRCm39) |
M2897K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,952,666 (GRCm39) |
E721G |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,218,109 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,943,283 (GRCm39) |
K725N |
possibly damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,909 (GRCm39) |
I308V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,432,674 (GRCm39) |
|
probably benign |
Het |
| Gm10109 |
A |
T |
7: 43,871,126 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,245,519 (GRCm39) |
V405I |
probably damaging |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,077 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,691 (GRCm39) |
I63T |
possibly damaging |
Het |
| Kcmf1 |
A |
C |
6: 72,826,546 (GRCm39) |
L161R |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,670,044 (GRCm39) |
V80L |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,774 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,840,783 (GRCm39) |
I575N |
possibly damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,077 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
A |
T |
3: 40,978,962 (GRCm39) |
H6L |
possibly damaging |
Het |
| Map4k2 |
T |
A |
19: 6,392,279 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,759,154 (GRCm39) |
H146R |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,631,813 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,170,113 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,131,654 (GRCm39) |
S514N |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,641 (GRCm39) |
I1610K |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,584,473 (GRCm39) |
L2095P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,963,588 (GRCm39) |
N115S |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,577 (GRCm39) |
Y218H |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,812,519 (GRCm39) |
I276R |
possibly damaging |
Het |
| P2rx6 |
G |
A |
16: 17,385,356 (GRCm39) |
E150K |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,806,976 (GRCm39) |
N1087K |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,453,713 (GRCm39) |
R31L |
probably benign |
Het |
| Proser3 |
A |
C |
7: 30,242,993 (GRCm39) |
S195A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,586,121 (GRCm39) |
K292E |
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,438,781 (GRCm39) |
R394H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,314 (GRCm39) |
I649T |
probably damaging |
Het |
| Skint3 |
G |
A |
4: 112,113,103 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,304,285 (GRCm39) |
L576Q |
probably damaging |
Het |
| Snx2 |
A |
G |
18: 53,349,463 (GRCm39) |
D408G |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,069 (GRCm39) |
V203A |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,936,459 (GRCm39) |
V1530M |
probably damaging |
Het |
| Tsc2 |
A |
C |
17: 24,838,444 (GRCm39) |
L515R |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,108,353 (GRCm39) |
M500K |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,496 (GRCm39) |
D76G |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,855 (GRCm39) |
D127G |
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 |
|
|
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 |
Incidental Mutation