Incidental Mutation 'R9057:Pan2'
| ID |
688756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| MMRRC Submission |
068883-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128156141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1133
(H1133L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000026446]
[ENSMUST00000218315]
[ENSMUST00000219037]
[ENSMUST00000219721]
[ENSMUST00000219836]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005825
AA Change: H1133L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: H1133L
| 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: H1124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219037
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219721
AA Change: H1106L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219836
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,782 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
A |
2: 25,331,584 (GRCm39) |
D1324N |
probably benign |
Het |
| Acat1 |
C |
T |
9: 53,503,300 (GRCm39) |
G180R |
probably damaging |
Het |
| AI837181 |
A |
C |
19: 5,476,730 (GRCm39) |
T298P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,586,814 (GRCm39) |
D556E |
unknown |
Het |
| Ankle1 |
T |
A |
8: 71,858,961 (GRCm39) |
W65R |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,203,654 (GRCm39) |
N234S |
probably benign |
Het |
| Asb7 |
T |
A |
7: 66,309,395 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,068,102 (GRCm39) |
C1033* |
probably null |
Het |
| B4galnt1 |
A |
G |
10: 127,006,999 (GRCm39) |
D452G |
probably damaging |
Het |
| B4gat1 |
G |
T |
19: 5,089,056 (GRCm39) |
A18S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,069,807 (GRCm39) |
Y724H |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,306 (GRCm39) |
M1383K |
possibly damaging |
Het |
| Cenpt |
C |
A |
8: 106,576,405 (GRCm39) |
*43L |
probably null |
Het |
| Ces2f |
C |
A |
8: 105,674,744 (GRCm39) |
H49N |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,637,522 (GRCm39) |
D1245E |
probably damaging |
Het |
| Col19a1 |
G |
T |
1: 24,549,962 (GRCm39) |
H312N |
unknown |
Het |
| Cyb5d2 |
C |
T |
11: 72,679,924 (GRCm39) |
E124K |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,391,014 (GRCm39) |
A3291V |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,779,186 (GRCm39) |
D226E |
probably damaging |
Het |
| Ggt6 |
C |
T |
11: 72,328,067 (GRCm39) |
T189M |
probably damaging |
Het |
| Gm5592 |
C |
A |
7: 40,938,887 (GRCm39) |
S723Y |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,332,465 (GRCm39) |
T133M |
probably damaging |
Het |
| Heatr5a |
C |
T |
12: 51,986,420 (GRCm39) |
E598K |
probably damaging |
Het |
| Hfe |
T |
A |
13: 23,889,658 (GRCm39) |
I330F |
possibly damaging |
Het |
| Htt |
A |
G |
5: 35,009,454 (GRCm39) |
I1478M |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,833,186 (GRCm39) |
F449L |
probably damaging |
Het |
| Ints4 |
T |
C |
7: 97,158,987 (GRCm39) |
V453A |
possibly damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,740 (GRCm39) |
|
probably null |
Het |
| Klrh1 |
T |
A |
6: 129,752,803 (GRCm39) |
M1L |
probably benign |
Het |
| Kpna4 |
G |
A |
3: 69,002,018 (GRCm39) |
T248M |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,874,977 (GRCm39) |
I372V |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,795,728 (GRCm39) |
D696E |
possibly damaging |
Het |
| Mpzl3 |
G |
A |
9: 44,979,592 (GRCm39) |
R181Q |
probably damaging |
Het |
| Mup12 |
A |
T |
4: 60,696,779 (GRCm39) |
I33N |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,656,011 (GRCm39) |
I502V |
possibly damaging |
Het |
| Nacad |
C |
A |
11: 6,550,876 (GRCm39) |
V772F |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,456,218 (GRCm39) |
T2417N |
probably benign |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Or2ag17 |
A |
T |
7: 106,389,296 (GRCm39) |
V304D |
probably damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,148 (GRCm39) |
E68G |
probably damaging |
Het |
| Pgk2 |
A |
G |
17: 40,518,735 (GRCm39) |
V231A |
possibly damaging |
Het |
| Psmd12 |
G |
A |
11: 107,377,328 (GRCm39) |
R129Q |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,072,021 (GRCm39) |
R139C |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,446,246 (GRCm39) |
Q158H |
|
Het |
| Scd3 |
C |
T |
19: 44,224,340 (GRCm39) |
P191L |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,111,890 (GRCm39) |
S262I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,794,209 (GRCm39) |
T526A |
probably benign |
Het |
| Slc26a3 |
A |
T |
12: 31,520,958 (GRCm39) |
T721S |
probably benign |
Het |
| Slc8a1 |
A |
C |
17: 81,955,479 (GRCm39) |
S520A |
probably benign |
Het |
| Sp9 |
A |
T |
2: 73,103,613 (GRCm39) |
S56C |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,095,547 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,167 (GRCm39) |
L255R |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,528,026 (GRCm39) |
I156T |
probably damaging |
Het |
| Tnrc6b |
G |
A |
15: 80,763,349 (GRCm39) |
A284T |
probably benign |
Het |
| Trappc14 |
A |
T |
5: 138,260,949 (GRCm39) |
V232E |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,575,874 (GRCm39) |
L919H |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,828,209 (GRCm39) |
H1454Q |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,027,702 (GRCm39) |
D537E |
probably benign |
Het |
| Wnt16 |
T |
A |
6: 22,288,823 (GRCm39) |
C47S |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,310,027 (GRCm39) |
E840K |
possibly damaging |
Het |
| Zfp61 |
A |
T |
7: 23,990,702 (GRCm39) |
V483E |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,793 (GRCm39) |
S179T |
probably benign |
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 |
|
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 |
|
|
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'- GGAGATACTGTCTTAACAACGATAGC -3'
(R):5'- ACTCTTGGGACTTGTCTGGC -3'
Sequencing Primer
(F):5'- AACCGTGTGTAACCTCAGTTCAGG -3'
(R):5'- TCTGGCTTTCAGGCTCAGGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation